Mutagenetix > Incidental Mutation

Incidental Mutation 'I2289:Csmd1'

603

Institutional Source

Beutler Lab

Gene Symbol

Csmd1

Ensembl Gene

ENSMUSG00000060924

Gene Name

CUB and Sushi multiple domains 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

I2289 (G3) of strain 633

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15942537-17585602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15962381 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Isoleucine to Lysine at position 3271 (I3271K)

Ref Sequence

ENSEMBL: ENSMUSP00000080751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082104]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082104
AA Change: I3271K

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080751
Gene: ENSMUSG00000060924
AA Change: I3271K

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
CUB	32	140	1.46e-26	SMART
CCP	145	202	1.01e-11	SMART
CUB	208	312	1.05e-27	SMART
CCP	349	406	1.28e-8	SMART
CUB	411	522	2.34e-25	SMART
CCP	527	580	1.22e-14	SMART
CUB	584	692	1.61e-37	SMART
CCP	697	754	4.41e-12	SMART
CUB	758	866	6.55e-38	SMART
CCP	873	926	2.53e-12	SMART
CUB	930	1040	8.94e-22	SMART
CCP	1045	1100	7.06e-11	SMART
CUB	1104	1212	3.14e-26	SMART
CCP	1217	1273	1.18e-12	SMART
CUB	1277	1386	9.72e-32	SMART
CCP	1391	1447	2.06e-12	SMART
CUB	1451	1559	1.68e-35	SMART
CCP	1564	1621	2.53e-12	SMART
CUB	1625	1733	4.24e-14	SMART
CCP	1741	1798	9.46e-12	SMART
CUB	1802	1910	4.23e-32	SMART
CCP	1915	1970	8.23e-12	SMART
CUB	1974	2082	8.59e-33	SMART
CCP	2087	2142	6.09e-15	SMART
CUB	2146	2253	2.36e-30	SMART
CCP	2258	2315	1.1e-12	SMART
CUB	2320	2430	4.3e-24	SMART
CCP	2432	2490	2.94e-8	SMART
CCP	2495	2552	2.03e-11	SMART
CCP	2557	2617	1.22e-5	SMART
CCP	2622	2675	2.72e-12	SMART
CCP	2680	2733	5.86e-17	SMART
CCP	2738	2791	6.09e-15	SMART
CCP	2796	2854	9.1e-14	SMART
CCP	2859	2912	3.96e-14	SMART
CCP	2920	2973	4.41e-12	SMART
CCP	2978	3032	2.94e-8	SMART
CCP	3037	3092	6.59e-11	SMART
CCP	3097	3150	4.12e-12	SMART
CCP	3155	3208	7.92e-14	SMART
CCP	3216	3270	2.8e-14	SMART
CCP	3275	3330	3.78e-11	SMART
transmembrane domain	3487	3509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125551

Meta Mutation Damage Score

0.5652

Coding Region Coverage

1x: 87.8%
3x: 75.8%

Het Detection Efficiency

55.8%

Validation Efficiency

88% (46/52)

MGI Phenotype

PHENOTYPE: Mice exhibit normal pre-pulse inhibition, social interaction, sucrose preference and d-amphetamine sensitivity. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,071,894 (GRCm39)	L146Q	probably benign	Homo
Adgrv1	A	G	13: 81,585,643 (GRCm39)	L4607P	probably damaging	Het
Amelx	A	G	X: 167,961,009 (GRCm39)		probably null	Homo
Ankfy1	A	G	11: 72,621,311 (GRCm39)	K199R	probably benign	Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Bank1	T	A	3: 135,760,179 (GRCm39)	D782V	probably damaging	Homo
Fat1	A	G	8: 45,478,033 (GRCm39)	I2360V	probably benign	Homo
Gldc	G	A	19: 30,124,576 (GRCm39)	R241*	probably null	Het
Golgb1	A	G	16: 36,718,904 (GRCm39)	H270R	probably benign	Het
Heg1	T	C	16: 33,583,829 (GRCm39)	I1212T	probably damaging	Het
Hes1	T	A	16: 29,884,699 (GRCm39)	S53R	probably damaging	Het
Ibsp	G	A	5: 104,450,353 (GRCm39)	R57Q	possibly damaging	Homo
Lrp1b	A	T	2: 41,012,944 (GRCm39)	I2001K	probably damaging	Het
Nf1	G	A	11: 79,438,602 (GRCm39)	R2181H	probably damaging	Het
Nrcam	C	A	12: 44,611,098 (GRCm39)	H567Q	probably benign	Homo
Or51a10	T	C	7: 103,698,961 (GRCm39)	Y200C	probably damaging	Homo
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Rraga	T	C	4: 86,494,522 (GRCm39)	F123L	probably damaging	Het
Spam1	A	G	6: 24,796,477 (GRCm39)	I143V	probably benign	Het
Synj2	A	G	17: 6,072,542 (GRCm39)		probably benign	Homo
T	A	T	17: 8,657,474 (GRCm39)	T112S	probably benign	Homo

Other mutations in Csmd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Csmd1	APN	8	16,059,297 (GRCm39)	splice site	probably benign
IGL00433:Csmd1	APN	8	16,281,387 (GRCm39)	missense	probably damaging	1.00
IGL00500:Csmd1	APN	8	15,971,139 (GRCm39)	missense	probably damaging	1.00
IGL00666:Csmd1	APN	8	16,240,004 (GRCm39)	missense	probably damaging	1.00
IGL00913:Csmd1	APN	8	16,121,301 (GRCm39)	missense	probably benign	0.00
IGL01012:Csmd1	APN	8	15,967,341 (GRCm39)	missense	probably benign	0.00
IGL01123:Csmd1	APN	8	17,584,944 (GRCm39)	missense	possibly damaging	0.96
IGL01348:Csmd1	APN	8	15,960,596 (GRCm39)	missense	probably damaging	0.99
IGL01444:Csmd1	APN	8	16,250,069 (GRCm39)	missense	probably benign	0.00
IGL01530:Csmd1	APN	8	15,953,195 (GRCm39)	missense	probably damaging	0.99
IGL01548:Csmd1	APN	8	16,338,660 (GRCm39)	nonsense	probably null
IGL01814:Csmd1	APN	8	16,551,389 (GRCm39)	missense	probably damaging	1.00
IGL01889:Csmd1	APN	8	16,048,857 (GRCm39)	missense	probably damaging	1.00
IGL02055:Csmd1	APN	8	16,119,015 (GRCm39)	missense	probably damaging	0.99
IGL02066:Csmd1	APN	8	15,976,594 (GRCm39)	missense	probably damaging	1.00
IGL02097:Csmd1	APN	8	16,261,773 (GRCm39)	missense	probably null	0.17
IGL02112:Csmd1	APN	8	16,131,719 (GRCm39)	missense	probably benign	0.18
IGL02161:Csmd1	APN	8	16,408,426 (GRCm39)	missense	probably damaging	0.97
IGL02189:Csmd1	APN	8	16,321,620 (GRCm39)	missense	probably damaging	0.99
IGL02272:Csmd1	APN	8	16,249,907 (GRCm39)	missense	probably damaging	0.99
IGL02292:Csmd1	APN	8	16,261,884 (GRCm39)	missense	probably damaging	1.00
IGL02385:Csmd1	APN	8	15,953,275 (GRCm39)	missense	probably benign	0.08
IGL02424:Csmd1	APN	8	16,142,340 (GRCm39)	missense	probably benign	0.22
IGL02492:Csmd1	APN	8	16,052,597 (GRCm39)	missense	probably benign	0.13
IGL02507:Csmd1	APN	8	17,584,992 (GRCm39)	utr 5 prime	probably benign
IGL02513:Csmd1	APN	8	16,049,869 (GRCm39)	splice site	probably benign
IGL02727:Csmd1	APN	8	16,281,341 (GRCm39)	missense	probably damaging	1.00
IGL02728:Csmd1	APN	8	16,049,779 (GRCm39)	critical splice donor site	probably null
IGL02852:Csmd1	APN	8	15,945,728 (GRCm39)	missense	probably damaging	0.99
IGL02935:Csmd1	APN	8	16,273,348 (GRCm39)	missense	probably damaging	1.00
IGL02945:Csmd1	APN	8	16,321,584 (GRCm39)	missense	possibly damaging	0.92
IGL02959:Csmd1	APN	8	15,960,465 (GRCm39)	missense	probably damaging	0.99
IGL03113:Csmd1	APN	8	16,078,712 (GRCm39)	missense	probably benign
IGL03129:Csmd1	APN	8	16,011,521 (GRCm39)	missense	probably damaging	0.99
IGL03131:Csmd1	APN	8	16,138,231 (GRCm39)	missense	probably damaging	1.00
IGL03275:Csmd1	APN	8	16,207,106 (GRCm39)	missense	probably benign	0.00
IGL03297:Csmd1	APN	8	16,059,432 (GRCm39)	nonsense	probably null
ikura	UTSW	8	16,281,285 (GRCm39)	missense	probably damaging	1.00
IGL03055:Csmd1	UTSW	8	16,145,515 (GRCm39)	missense	probably damaging	1.00
IGL03097:Csmd1	UTSW	8	15,995,127 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Csmd1	UTSW	8	16,120,327 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Csmd1	UTSW	8	15,945,728 (GRCm39)	missense	probably damaging	0.99
PIT4520001:Csmd1	UTSW	8	15,956,023 (GRCm39)	missense	probably benign	0.01
R0037:Csmd1	UTSW	8	15,967,248 (GRCm39)	missense	probably damaging	0.97
R0095:Csmd1	UTSW	8	16,283,065 (GRCm39)	missense	probably damaging	1.00
R0113:Csmd1	UTSW	8	16,034,849 (GRCm39)	missense	probably damaging	1.00
R0129:Csmd1	UTSW	8	16,129,956 (GRCm39)	missense	possibly damaging	0.95
R0144:Csmd1	UTSW	8	16,441,838 (GRCm39)	missense	probably benign	0.16
R0166:Csmd1	UTSW	8	16,283,036 (GRCm39)	missense	probably benign	0.29
R0227:Csmd1	UTSW	8	16,441,836 (GRCm39)	missense	probably benign	0.05
R0279:Csmd1	UTSW	8	16,273,249 (GRCm39)	missense	probably damaging	0.99
R0280:Csmd1	UTSW	8	16,321,616 (GRCm39)	missense	probably damaging	1.00
R0312:Csmd1	UTSW	8	16,034,760 (GRCm39)	missense	probably damaging	1.00
R0355:Csmd1	UTSW	8	15,968,330 (GRCm39)	missense	probably damaging	0.97
R0367:Csmd1	UTSW	8	15,967,270 (GRCm39)	missense	probably damaging	1.00
R0395:Csmd1	UTSW	8	16,396,652 (GRCm39)	missense	probably damaging	0.99
R0413:Csmd1	UTSW	8	16,760,530 (GRCm39)	missense	probably damaging	0.97
R0457:Csmd1	UTSW	8	16,551,407 (GRCm39)	critical splice acceptor site	probably null
R0463:Csmd1	UTSW	8	15,971,759 (GRCm39)	missense	probably damaging	0.99
R0482:Csmd1	UTSW	8	16,283,115 (GRCm39)	missense	probably damaging	1.00
R0501:Csmd1	UTSW	8	17,077,339 (GRCm39)	missense	probably damaging	0.97
R0505:Csmd1	UTSW	8	16,042,758 (GRCm39)	missense	probably damaging	1.00
R0507:Csmd1	UTSW	8	16,235,358 (GRCm39)	splice site	probably benign
R0511:Csmd1	UTSW	8	15,982,529 (GRCm39)	missense	possibly damaging	0.80
R0555:Csmd1	UTSW	8	16,235,287 (GRCm39)	missense	probably benign
R0580:Csmd1	UTSW	8	15,960,528 (GRCm39)	missense	probably damaging	1.00
R0610:Csmd1	UTSW	8	15,968,208 (GRCm39)	missense	possibly damaging	0.95
R0634:Csmd1	UTSW	8	16,276,405 (GRCm39)	missense	probably damaging	1.00
R0666:Csmd1	UTSW	8	16,119,063 (GRCm39)	missense	possibly damaging	0.88
R0674:Csmd1	UTSW	8	16,050,550 (GRCm39)	missense	probably benign	0.03
R0675:Csmd1	UTSW	8	16,208,145 (GRCm39)	missense	probably benign	0.01
R0763:Csmd1	UTSW	8	17,077,300 (GRCm39)	missense	possibly damaging	0.67
R0781:Csmd1	UTSW	8	15,971,174 (GRCm39)	missense	probably benign	0.35
R0862:Csmd1	UTSW	8	16,240,040 (GRCm39)	missense	probably damaging	0.99
R0864:Csmd1	UTSW	8	16,240,040 (GRCm39)	missense	probably damaging	0.99
R0925:Csmd1	UTSW	8	16,760,634 (GRCm39)	missense	probably benign	0.29
R0926:Csmd1	UTSW	8	16,083,590 (GRCm39)	splice site	probably null
R1005:Csmd1	UTSW	8	16,338,707 (GRCm39)	missense	probably damaging	0.99
R1073:Csmd1	UTSW	8	16,408,477 (GRCm39)	splice site	probably benign
R1185:Csmd1	UTSW	8	16,408,362 (GRCm39)	missense	probably damaging	0.96
R1185:Csmd1	UTSW	8	16,408,362 (GRCm39)	missense	probably damaging	0.96
R1185:Csmd1	UTSW	8	16,408,362 (GRCm39)	missense	probably damaging	0.96
R1256:Csmd1	UTSW	8	16,129,978 (GRCm39)	missense	probably damaging	1.00
R1294:Csmd1	UTSW	8	16,748,052 (GRCm39)	missense	probably damaging	0.99
R1375:Csmd1	UTSW	8	16,513,095 (GRCm39)	splice site	probably null
R1447:Csmd1	UTSW	8	15,975,306 (GRCm39)	nonsense	probably null
R1450:Csmd1	UTSW	8	15,995,180 (GRCm39)	critical splice acceptor site	probably null
R1470:Csmd1	UTSW	8	16,207,218 (GRCm39)	splice site	probably benign
R1580:Csmd1	UTSW	8	15,975,299 (GRCm39)	missense	probably damaging	1.00
R1591:Csmd1	UTSW	8	15,950,710 (GRCm39)	missense	probably damaging	0.99
R1658:Csmd1	UTSW	8	16,131,739 (GRCm39)	missense	possibly damaging	0.69
R1678:Csmd1	UTSW	8	15,968,252 (GRCm39)	missense	possibly damaging	0.58
R1717:Csmd1	UTSW	8	17,266,708 (GRCm39)	missense	possibly damaging	0.58
R1735:Csmd1	UTSW	8	15,982,610 (GRCm39)	missense	probably damaging	0.99
R1750:Csmd1	UTSW	8	15,967,303 (GRCm39)	missense	probably damaging	0.99
R1753:Csmd1	UTSW	8	16,207,134 (GRCm39)	nonsense	probably null
R1822:Csmd1	UTSW	8	16,273,340 (GRCm39)	missense	probably damaging	1.00
R1875:Csmd1	UTSW	8	15,979,101 (GRCm39)	missense	probably damaging	0.99
R1909:Csmd1	UTSW	8	15,956,116 (GRCm39)	missense	probably damaging	1.00
R1912:Csmd1	UTSW	8	16,284,012 (GRCm39)	critical splice donor site	probably null
R1993:Csmd1	UTSW	8	16,396,698 (GRCm39)	missense	probably damaging	0.99
R2067:Csmd1	UTSW	8	15,950,782 (GRCm39)	missense	probably benign
R2094:Csmd1	UTSW	8	16,129,992 (GRCm39)	missense	probably damaging	0.99
R2119:Csmd1	UTSW	8	17,266,749 (GRCm39)	missense	probably damaging	0.98
R2127:Csmd1	UTSW	8	15,967,392 (GRCm39)	missense	probably damaging	1.00
R2138:Csmd1	UTSW	8	15,979,088 (GRCm39)	missense	probably damaging	0.96
R2216:Csmd1	UTSW	8	17,077,355 (GRCm39)	critical splice acceptor site	probably null
R2220:Csmd1	UTSW	8	16,042,641 (GRCm39)	missense	possibly damaging	0.94
R2380:Csmd1	UTSW	8	16,240,101 (GRCm39)	missense	probably damaging	1.00
R2471:Csmd1	UTSW	8	16,261,776 (GRCm39)	missense	probably damaging	1.00
R2984:Csmd1	UTSW	8	16,003,782 (GRCm39)	missense	probably damaging	1.00
R3001:Csmd1	UTSW	8	16,246,184 (GRCm39)	missense	probably damaging	0.98
R3002:Csmd1	UTSW	8	16,246,184 (GRCm39)	missense	probably damaging	0.98
R3003:Csmd1	UTSW	8	16,246,184 (GRCm39)	missense	probably damaging	0.98
R3103:Csmd1	UTSW	8	15,967,405 (GRCm39)	missense	probably damaging	1.00
R3104:Csmd1	UTSW	8	17,077,247 (GRCm39)	missense	probably damaging	1.00
R3620:Csmd1	UTSW	8	16,042,684 (GRCm39)	missense	probably benign	0.29
R3621:Csmd1	UTSW	8	16,042,684 (GRCm39)	missense	probably benign	0.29
R3748:Csmd1	UTSW	8	15,956,071 (GRCm39)	missense	probably damaging	0.99
R3780:Csmd1	UTSW	8	16,252,000 (GRCm39)	missense	probably damaging	1.00
R3815:Csmd1	UTSW	8	16,052,522 (GRCm39)	missense	probably damaging	1.00
R3816:Csmd1	UTSW	8	16,052,522 (GRCm39)	missense	probably damaging	1.00
R3818:Csmd1	UTSW	8	16,052,522 (GRCm39)	missense	probably damaging	1.00
R3819:Csmd1	UTSW	8	16,052,522 (GRCm39)	missense	probably damaging	1.00
R3850:Csmd1	UTSW	8	16,129,936 (GRCm39)	missense	probably benign	0.00
R3945:Csmd1	UTSW	8	15,960,619 (GRCm39)	splice site	probably null
R3980:Csmd1	UTSW	8	15,956,056 (GRCm39)	nonsense	probably null
R4061:Csmd1	UTSW	8	15,995,158 (GRCm39)	missense	probably benign	0.00
R4086:Csmd1	UTSW	8	16,042,738 (GRCm39)	missense	probably damaging	0.99
R4087:Csmd1	UTSW	8	16,042,738 (GRCm39)	missense	probably damaging	0.99
R4089:Csmd1	UTSW	8	16,042,738 (GRCm39)	missense	probably damaging	0.99
R4183:Csmd1	UTSW	8	15,960,464 (GRCm39)	missense	probably damaging	0.99
R4226:Csmd1	UTSW	8	16,050,490 (GRCm39)	missense	probably damaging	0.99
R4454:Csmd1	UTSW	8	15,995,011 (GRCm39)	missense	probably damaging	0.99
R4533:Csmd1	UTSW	8	15,981,037 (GRCm39)	splice site	probably null
R4544:Csmd1	UTSW	8	16,760,652 (GRCm39)	missense	possibly damaging	0.93
R4547:Csmd1	UTSW	8	16,441,811 (GRCm39)	missense	possibly damaging	0.48
R4612:Csmd1	UTSW	8	15,971,908 (GRCm39)	splice site	probably null
R4620:Csmd1	UTSW	8	16,052,694 (GRCm39)	critical splice acceptor site	probably null
R4627:Csmd1	UTSW	8	16,747,933 (GRCm39)	missense	probably benign	0.00
R4633:Csmd1	UTSW	8	16,052,620 (GRCm39)	missense	probably damaging	0.99
R4646:Csmd1	UTSW	8	15,982,511 (GRCm39)	missense	possibly damaging	0.87
R4648:Csmd1	UTSW	8	16,048,788 (GRCm39)	nonsense	probably null
R4668:Csmd1	UTSW	8	16,073,905 (GRCm39)	missense	possibly damaging	0.50
R4709:Csmd1	UTSW	8	16,760,522 (GRCm39)	critical splice donor site	probably null
R4709:Csmd1	UTSW	8	16,073,905 (GRCm39)	missense	possibly damaging	0.96
R4741:Csmd1	UTSW	8	15,960,447 (GRCm39)	missense	probably damaging	0.99
R4774:Csmd1	UTSW	8	16,059,369 (GRCm39)	missense	probably benign	0.11
R4793:Csmd1	UTSW	8	16,138,277 (GRCm39)	missense	probably damaging	1.00
R4829:Csmd1	UTSW	8	16,177,310 (GRCm39)	missense	probably damaging	1.00
R4888:Csmd1	UTSW	8	15,945,674 (GRCm39)	utr 3 prime	probably benign
R4896:Csmd1	UTSW	8	16,059,439 (GRCm39)	missense	probably benign	0.00
R4932:Csmd1	UTSW	8	16,073,779 (GRCm39)	missense	probably damaging	0.99
R4944:Csmd1	UTSW	8	16,048,772 (GRCm39)	missense	probably damaging	1.00
R4953:Csmd1	UTSW	8	16,249,931 (GRCm39)	missense	probably damaging	0.99
R4996:Csmd1	UTSW	8	15,960,452 (GRCm39)	missense	probably damaging	0.97
R5028:Csmd1	UTSW	8	16,039,090 (GRCm39)	missense	probably damaging	1.00
R5146:Csmd1	UTSW	8	16,246,204 (GRCm39)	missense	probably damaging	1.00
R5272:Csmd1	UTSW	8	16,249,958 (GRCm39)	missense	probably damaging	0.99
R5327:Csmd1	UTSW	8	17,266,728 (GRCm39)	missense	possibly damaging	0.94
R5399:Csmd1	UTSW	8	16,760,613 (GRCm39)	missense	probably damaging	1.00
R5411:Csmd1	UTSW	8	15,960,471 (GRCm39)	missense	probably damaging	1.00
R5462:Csmd1	UTSW	8	16,011,486 (GRCm39)	missense	probably benign	0.12
R5463:Csmd1	UTSW	8	16,034,860 (GRCm39)	missense	probably benign	0.34
R5497:Csmd1	UTSW	8	16,135,195 (GRCm39)	missense	probably benign	0.20
R5536:Csmd1	UTSW	8	16,338,674 (GRCm39)	missense	probably damaging	0.99
R5711:Csmd1	UTSW	8	16,003,703 (GRCm39)	missense	probably damaging	1.00
R5730:Csmd1	UTSW	8	16,235,206 (GRCm39)	nonsense	probably null
R5788:Csmd1	UTSW	8	16,251,980 (GRCm39)	missense	probably damaging	1.00
R5941:Csmd1	UTSW	8	15,982,471 (GRCm39)	missense	probably damaging	0.99
R5960:Csmd1	UTSW	8	16,121,430 (GRCm39)	missense	possibly damaging	0.68
R5961:Csmd1	UTSW	8	16,120,366 (GRCm39)	missense	probably damaging	0.99
R5969:Csmd1	UTSW	8	16,121,367 (GRCm39)	missense	probably benign	0.00
R5998:Csmd1	UTSW	8	15,960,443 (GRCm39)	missense	probably damaging	1.00
R6062:Csmd1	UTSW	8	16,142,319 (GRCm39)	missense	possibly damaging	0.68
R6109:Csmd1	UTSW	8	16,249,874 (GRCm39)	missense	possibly damaging	0.93
R6116:Csmd1	UTSW	8	16,261,864 (GRCm39)	missense	probably damaging	1.00
R6143:Csmd1	UTSW	8	16,138,315 (GRCm39)	missense	probably damaging	1.00
R6155:Csmd1	UTSW	8	15,953,231 (GRCm39)	missense	probably benign	0.01
R6197:Csmd1	UTSW	8	15,976,611 (GRCm39)	missense	probably benign	0.32
R6247:Csmd1	UTSW	8	16,246,249 (GRCm39)	missense	possibly damaging	0.91
R6304:Csmd1	UTSW	8	16,108,688 (GRCm39)	missense	probably damaging	1.00
R6317:Csmd1	UTSW	8	16,760,658 (GRCm39)	missense	possibly damaging	0.89
R6318:Csmd1	UTSW	8	15,953,212 (GRCm39)	missense	probably damaging	1.00
R6338:Csmd1	UTSW	8	15,982,492 (GRCm39)	missense	possibly damaging	0.75
R6369:Csmd1	UTSW	8	17,585,020 (GRCm39)	start gained	probably benign
R6447:Csmd1	UTSW	8	15,960,527 (GRCm39)	missense	probably damaging	1.00
R6454:Csmd1	UTSW	8	15,971,150 (GRCm39)	missense	probably damaging	0.99
R6494:Csmd1	UTSW	8	16,261,709 (GRCm39)	splice site	probably null
R6614:Csmd1	UTSW	8	17,266,803 (GRCm39)	missense	probably damaging	1.00
R6736:Csmd1	UTSW	8	16,052,626 (GRCm39)	missense	probably damaging	0.99
R6769:Csmd1	UTSW	8	16,121,408 (GRCm39)	missense	possibly damaging	0.80
R6771:Csmd1	UTSW	8	16,121,408 (GRCm39)	missense	possibly damaging	0.80
R6804:Csmd1	UTSW	8	16,087,260 (GRCm39)	missense	probably damaging	1.00
R6818:Csmd1	UTSW	8	16,235,341 (GRCm39)	missense	probably damaging	1.00
R6863:Csmd1	UTSW	8	17,584,929 (GRCm39)	missense	possibly damaging	0.85
R6930:Csmd1	UTSW	8	16,142,409 (GRCm39)	missense	probably damaging	0.97
R6969:Csmd1	UTSW	8	17,266,805 (GRCm39)	missense	possibly damaging	0.94
R7112:Csmd1	UTSW	8	16,151,142 (GRCm39)	missense	probably damaging	1.00
R7124:Csmd1	UTSW	8	15,953,202 (GRCm39)	missense	probably damaging	1.00
R7167:Csmd1	UTSW	8	15,976,524 (GRCm39)	missense	probably benign
R7243:Csmd1	UTSW	8	15,965,357 (GRCm39)	missense	probably damaging	1.00
R7260:Csmd1	UTSW	8	16,050,574 (GRCm39)	missense	probably damaging	1.00
R7271:Csmd1	UTSW	8	17,077,295 (GRCm39)	missense	probably damaging	0.99
R7324:Csmd1	UTSW	8	16,108,721 (GRCm39)	missense	probably damaging	1.00
R7325:Csmd1	UTSW	8	16,108,721 (GRCm39)	missense	probably damaging	1.00
R7327:Csmd1	UTSW	8	16,108,721 (GRCm39)	missense	probably damaging	1.00
R7373:Csmd1	UTSW	8	16,042,713 (GRCm39)	missense	probably damaging	1.00
R7406:Csmd1	UTSW	8	16,338,707 (GRCm39)	missense	probably damaging	0.99
R7427:Csmd1	UTSW	8	16,073,864 (GRCm39)	missense	possibly damaging	0.91
R7428:Csmd1	UTSW	8	16,073,864 (GRCm39)	missense	possibly damaging	0.91
R7445:Csmd1	UTSW	8	16,208,268 (GRCm39)	missense	possibly damaging	0.61
R7458:Csmd1	UTSW	8	16,003,738 (GRCm39)	missense	probably damaging	1.00
R7476:Csmd1	UTSW	8	15,945,731 (GRCm39)	missense	probably damaging	1.00
R7527:Csmd1	UTSW	8	16,261,732 (GRCm39)	missense	probably damaging	1.00
R7544:Csmd1	UTSW	8	16,142,310 (GRCm39)	missense	probably damaging	1.00
R7583:Csmd1	UTSW	8	16,048,833 (GRCm39)	missense	probably damaging	0.96
R7603:Csmd1	UTSW	8	16,338,696 (GRCm39)	missense	probably damaging	1.00
R7607:Csmd1	UTSW	8	15,968,331 (GRCm39)	missense	possibly damaging	0.94
R7642:Csmd1	UTSW	8	16,135,192 (GRCm39)	missense	probably damaging	0.99
R7669:Csmd1	UTSW	8	15,967,273 (GRCm39)	missense	probably damaging	1.00
R7720:Csmd1	UTSW	8	15,981,108 (GRCm39)	missense	probably damaging	1.00
R7728:Csmd1	UTSW	8	16,281,285 (GRCm39)	missense	probably damaging	1.00
R7738:Csmd1	UTSW	8	16,151,004 (GRCm39)	missense	probably damaging	1.00
R7745:Csmd1	UTSW	8	15,982,461 (GRCm39)	critical splice donor site	probably null
R7879:Csmd1	UTSW	8	16,441,820 (GRCm39)	missense	probably benign	0.28
R7884:Csmd1	UTSW	8	16,011,418 (GRCm39)	missense	probably damaging	1.00
R7897:Csmd1	UTSW	8	17,584,935 (GRCm39)	missense	possibly damaging	0.96
R8111:Csmd1	UTSW	8	15,967,306 (GRCm39)	missense	probably benign
R8119:Csmd1	UTSW	8	17,077,310 (GRCm39)	missense	probably damaging	0.99
R8134:Csmd1	UTSW	8	15,982,550 (GRCm39)	missense	probably damaging	0.99
R8187:Csmd1	UTSW	8	16,177,188 (GRCm39)	missense	probably damaging	0.99
R8196:Csmd1	UTSW	8	16,059,468 (GRCm39)	missense	probably benign	0.18
R8231:Csmd1	UTSW	8	16,747,939 (GRCm39)	missense	possibly damaging	0.82
R8242:Csmd1	UTSW	8	16,760,670 (GRCm39)	missense	probably benign	0.42
R8274:Csmd1	UTSW	8	15,960,453 (GRCm39)	missense	possibly damaging	0.93
R8286:Csmd1	UTSW	8	16,039,188 (GRCm39)	missense	probably benign	0.18
R8289:Csmd1	UTSW	8	16,108,716 (GRCm39)	missense	probably damaging	0.99
R8314:Csmd1	UTSW	8	16,208,258 (GRCm39)	missense	probably benign
R8323:Csmd1	UTSW	8	17,266,751 (GRCm39)	nonsense	probably null
R8387:Csmd1	UTSW	8	16,050,484 (GRCm39)	missense	possibly damaging	0.94
R8413:Csmd1	UTSW	8	15,950,676 (GRCm39)	missense	probably damaging	0.98
R8672:Csmd1	UTSW	8	15,976,598 (GRCm39)	missense	probably benign	0.01
R8765:Csmd1	UTSW	8	16,760,627 (GRCm39)	nonsense	probably null
R8789:Csmd1	UTSW	8	17,266,722 (GRCm39)	missense	probably damaging	0.99
R8828:Csmd1	UTSW	8	16,048,794 (GRCm39)	missense	probably benign	0.00
R8858:Csmd1	UTSW	8	16,120,318 (GRCm39)	missense	probably benign	0.10
R8878:Csmd1	UTSW	8	15,960,528 (GRCm39)	missense	probably damaging	1.00
R8911:Csmd1	UTSW	8	16,748,019 (GRCm39)	missense	probably damaging	0.99
R8966:Csmd1	UTSW	8	16,250,059 (GRCm39)	missense	probably damaging	1.00
R8978:Csmd1	UTSW	8	15,971,056 (GRCm39)	missense	probably benign	0.37
R8996:Csmd1	UTSW	8	15,971,105 (GRCm39)	missense	possibly damaging	0.54
R9045:Csmd1	UTSW	8	16,284,088 (GRCm39)	missense	probably damaging	0.99
R9084:Csmd1	UTSW	8	16,138,325 (GRCm39)	missense	probably benign
R9124:Csmd1	UTSW	8	16,034,806 (GRCm39)	missense	probably damaging	0.99
R9127:Csmd1	UTSW	8	16,273,286 (GRCm39)	missense	probably benign	0.31
R9146:Csmd1	UTSW	8	16,048,832 (GRCm39)	missense	probably benign	0.00
R9198:Csmd1	UTSW	8	15,962,430 (GRCm39)	missense	probably damaging	1.00
R9285:Csmd1	UTSW	8	15,956,088 (GRCm39)	missense	probably damaging	1.00
R9303:Csmd1	UTSW	8	16,011,532 (GRCm39)	missense	probably benign	0.31
R9305:Csmd1	UTSW	8	16,011,532 (GRCm39)	missense	probably benign	0.31
R9326:Csmd1	UTSW	8	16,049,803 (GRCm39)	missense	probably benign	0.21
R9356:Csmd1	UTSW	8	16,252,069 (GRCm39)	missense	probably damaging	1.00
R9385:Csmd1	UTSW	8	16,034,756 (GRCm39)	missense	probably benign	0.19
R9444:Csmd1	UTSW	8	16,208,250 (GRCm39)	missense	probably benign	0.30
R9476:Csmd1	UTSW	8	15,981,215 (GRCm39)	critical splice acceptor site	probably null
R9506:Csmd1	UTSW	8	16,250,023 (GRCm39)	missense	probably damaging	1.00
R9614:Csmd1	UTSW	8	16,208,239 (GRCm39)	missense	probably benign	0.00
R9668:Csmd1	UTSW	8	16,261,772 (GRCm39)	missense	probably benign	0.00
X0011:Csmd1	UTSW	8	16,246,277 (GRCm39)	missense	probably damaging	1.00
X0021:Csmd1	UTSW	8	16,235,270 (GRCm39)	missense	probably damaging	1.00
X0024:Csmd1	UTSW	8	16,087,232 (GRCm39)	missense	probably damaging	0.99
X0028:Csmd1	UTSW	8	15,965,333 (GRCm39)	missense	possibly damaging	0.79
Z1088:Csmd1	UTSW	8	16,239,992 (GRCm39)	missense	possibly damaging	0.50
Z1088:Csmd1	UTSW	8	16,142,272 (GRCm39)	missense	probably damaging	1.00
Z1088:Csmd1	UTSW	8	15,971,875 (GRCm39)	missense	possibly damaging	0.91
Z1088:Csmd1	UTSW	8	16,396,631 (GRCm39)	missense	probably damaging	0.99
Z1088:Csmd1	UTSW	8	16,250,072 (GRCm39)	missense	probably damaging	0.97
Z1176:Csmd1	UTSW	8	16,087,212 (GRCm39)	missense	probably damaging	1.00
Z1176:Csmd1	UTSW	8	16,048,814 (GRCm39)	missense	probably damaging	1.00
Z1177:Csmd1	UTSW	8	16,250,033 (GRCm39)	missense	probably damaging	1.00
Z1177:Csmd1	UTSW	8	16,034,708 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 10222 of the Csmd1 transcript in exon 63 of 70 exons using Genbank record NM_053171.2. Multiple transcripts of the Csmd1 gene are displayed on Ensembl and Vega. The mutated nucleotide causes an isoleucine to lysine substitution at amino acid 3271 of the encoded protein (amino acid 2993 for the Ensembl record). The mutation has been confirmed by DNA sequencing using the Sanger method.

Protein Function and Prediction

The Csmd1 gene encodes a 3564 amino acid single-pass type I membrane protein that belongs to the CSMD (CUB and Sushi domain containing protein) family. Three isoforms of the protein are displayed on Uniprot. The second isoform replaces amino acids 3332-3347 with an isoleucine and the third isoform is missing residues 102-3564. CSMD1 contains 14 CUB domains and 28 Sushi domains (Uniprot Q923L3). Sushi domains are also known as complement control protein (CCP) modules and are present in many complement and adhesion proteins. CUB domains are structural motifs of approximately 110 residues found almost exclusively in extracellular and plasma membrane-associated proteins, many of which are developmentally regulated. CSMD1 is proposed to be an important regulator of complement activation and inflammation in the developing central nervous system.

The I3271K alteration occurs in the 27th Sushi domain.

Posted On

2011-03-04