Mutagenetix > Incidental Mutation

Incidental Mutation 'R5322:Cachd1'

404889

Institutional Source

Beutler Lab

Gene Symbol

Cachd1

Ensembl Gene

ENSMUSG00000028532

Gene Name

cache domain containing 1

Synonyms

Vwcd1, 1190007F10Rik, B430218L07Rik

MMRRC Submission

042905-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R5322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100633870-100861741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100809319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 268 (I268T)

Ref Sequence

ENSEMBL: ENSMUSP00000095568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030257] [ENSMUST00000097955]

AlphaFold

Q6PDJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030257
AA Change: I268T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030257
Gene: ENSMUSG00000028532
AA Change: I268T

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
Pfam:VWA_N	103	218	9.4e-22	PFAM
VWA	240	438	2.8e-1	SMART
Pfam:Cache_1	467	543	2.4e-12	PFAM
Pfam:Cache_1	786	871	1.5e-7	PFAM
low complexity region	981	996	N/A	INTRINSIC
transmembrane domain	1109	1131	N/A	INTRINSIC
low complexity region	1159	1173	N/A	INTRINSIC
low complexity region	1240	1246	N/A	INTRINSIC
low complexity region	1260	1274	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097955
AA Change: I268T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095568
Gene: ENSMUSG00000028532
AA Change: I268T

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
Pfam:VWA_N	103	218	6.7e-32	PFAM
VWA	240	438	2.8e-1	SMART
Pfam:Cache_1	467	543	1.7e-12	PFAM
low complexity region	801	818	N/A	INTRINSIC
low complexity region	981	996	N/A	INTRINSIC
transmembrane domain	1109	1131	N/A	INTRINSIC
low complexity region	1159	1173	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	T	5: 89,855,159 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,729,545 (GRCm39)		probably null	Het
Ankrd60	T	A	2: 173,410,610 (GRCm39)	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,086,890 (GRCm39)		probably null	Het
Arvcf	T	C	16: 18,215,508 (GRCm39)	M176T	probably benign	Het
Ccdc66	A	G	14: 27,204,484 (GRCm39)	S933P	probably damaging	Het
Cfi	C	T	3: 129,666,689 (GRCm39)	P471S	probably damaging	Het
Ckmt2	G	T	13: 92,009,891 (GRCm39)	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,085,078 (GRCm39)	D15E	probably damaging	Het
Copb2	A	T	9: 98,468,029 (GRCm39)	K680N	probably benign	Het
D2hgdh	T	C	1: 93,757,620 (GRCm39)		probably null	Het
Dcn	A	T	10: 97,353,464 (GRCm39)	T338S	probably benign	Het
Dipk2a	A	G	9: 94,402,615 (GRCm39)	I349T	probably benign	Het
Dnah10	G	A	5: 124,850,630 (GRCm39)	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,390 (GRCm39)	I3045V	probably benign	Het
Dock3	G	A	9: 106,779,028 (GRCm39)	T307I	probably benign	Het
Dock5	A	T	14: 68,007,715 (GRCm39)	I1498N	probably benign	Het
Emc1	A	T	4: 139,081,557 (GRCm39)	N62Y	probably damaging	Het
Enpp6	C	A	8: 47,521,950 (GRCm39)	H295N	probably benign	Het
Epha10	A	G	4: 124,779,541 (GRCm39)	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,172,387 (GRCm39)	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fignl1	A	T	11: 11,751,571 (GRCm39)	F495I	probably damaging	Het
Gm43302	C	T	5: 105,365,347 (GRCm39)	A554T	probably benign	Het
Gpr157	A	G	4: 150,183,309 (GRCm39)	N160D	probably benign	Het
Il1rn	G	A	2: 24,238,641 (GRCm39)		probably null	Het
Kctd13	T	A	7: 126,528,378 (GRCm39)	L51Q	probably damaging	Het
Kndc1	T	C	7: 139,516,722 (GRCm39)	F1561L	probably damaging	Het
Mast2	A	G	4: 116,190,608 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,792,975 (GRCm39)	H637R	probably damaging	Het
Moxd1	A	T	10: 24,120,151 (GRCm39)	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,423,119 (GRCm39)		probably null	Het
Myot	T	C	18: 44,487,216 (GRCm39)	F351S	probably benign	Het
N4bp2	T	A	5: 65,947,800 (GRCm39)	N143K	possibly damaging	Het
Or10ac1	T	C	6: 42,515,950 (GRCm39)	D2G	probably benign	Het
Or2ah1	T	A	2: 85,653,531 (GRCm39)	I72N	probably damaging	Het
Or51b6b	T	C	7: 103,309,879 (GRCm39)	I193V	possibly damaging	Het
Or52a20	T	A	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Or52n2	C	T	7: 104,542,371 (GRCm39)	V155I	probably benign	Het
Or8b3	A	T	9: 38,314,862 (GRCm39)	I228F	probably damaging	Het
Or8b52	T	A	9: 38,576,502 (GRCm39)	I213L	probably benign	Het
Patl1	C	T	19: 11,898,223 (GRCm39)	R134*	probably null	Het
Paxbp1	T	C	16: 90,812,050 (GRCm39)	I887V	probably benign	Het
Pi4kb	G	A	3: 94,901,560 (GRCm39)	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,438,686 (GRCm39)	E112G	probably benign	Het
Ppp2r2a	A	G	14: 67,276,322 (GRCm39)		probably null	Het
Rela	T	A	19: 5,695,408 (GRCm39)	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,101,985 (GRCm39)		probably benign	Het
Smco2	T	C	6: 146,772,785 (GRCm39)	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,682,347 (GRCm39)	I77F	possibly damaging	Het
Tex14	A	G	11: 87,402,298 (GRCm39)	I462V	probably benign	Het
Tmem260	C	T	14: 48,724,306 (GRCm39)	R385W	probably damaging	Het
Trrap	T	C	5: 144,781,034 (GRCm39)	V2974A	probably damaging	Het
Usp47	C	T	7: 111,652,476 (GRCm39)	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,616,481 (GRCm39)	N247S	probably benign	Het
Zeb2	A	C	2: 44,887,107 (GRCm39)	M582R	probably damaging	Het

Other mutations in Cachd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Cachd1	APN	4	100,824,163 (GRCm39)	missense	probably benign	0.05
IGL01531:Cachd1	APN	4	100,810,231 (GRCm39)	missense	probably benign	0.02
IGL01705:Cachd1	APN	4	100,840,736 (GRCm39)	missense	possibly damaging	0.46
IGL01843:Cachd1	APN	4	100,850,069 (GRCm39)	missense	probably damaging	0.98
IGL01938:Cachd1	APN	4	100,831,325 (GRCm39)	missense	possibly damaging	0.59
IGL02268:Cachd1	APN	4	100,809,294 (GRCm39)	missense	possibly damaging	0.75
IGL02934:Cachd1	APN	4	100,825,295 (GRCm39)	missense	probably damaging	0.98
IGL03019:Cachd1	APN	4	100,809,282 (GRCm39)	missense	probably damaging	0.98
IGL03084:Cachd1	APN	4	100,860,285 (GRCm39)	missense	probably damaging	0.99
R0366:Cachd1	UTSW	4	100,851,934 (GRCm39)	missense	possibly damaging	0.94
R0395:Cachd1	UTSW	4	100,810,402 (GRCm39)	missense	probably damaging	1.00
R0520:Cachd1	UTSW	4	100,754,900 (GRCm39)	missense	probably damaging	0.99
R0578:Cachd1	UTSW	4	100,852,039 (GRCm39)	splice site	probably benign
R0646:Cachd1	UTSW	4	100,845,418 (GRCm39)	missense	probably damaging	1.00
R0689:Cachd1	UTSW	4	100,832,073 (GRCm39)	missense	probably damaging	1.00
R0962:Cachd1	UTSW	4	100,840,498 (GRCm39)	splice site	probably benign
R1156:Cachd1	UTSW	4	100,845,816 (GRCm39)	missense	probably damaging	1.00
R1157:Cachd1	UTSW	4	100,832,037 (GRCm39)	missense	possibly damaging	0.77
R1314:Cachd1	UTSW	4	100,832,114 (GRCm39)	missense	probably damaging	1.00
R1482:Cachd1	UTSW	4	100,845,795 (GRCm39)	missense	possibly damaging	0.94
R1632:Cachd1	UTSW	4	100,824,169 (GRCm39)	missense	probably benign	0.02
R1774:Cachd1	UTSW	4	100,821,632 (GRCm39)	missense	probably damaging	1.00
R1774:Cachd1	UTSW	4	100,824,240 (GRCm39)	missense	probably benign	0.02
R1845:Cachd1	UTSW	4	100,634,555 (GRCm39)	missense	probably benign	0.01
R1869:Cachd1	UTSW	4	100,840,587 (GRCm39)	missense	probably damaging	1.00
R1912:Cachd1	UTSW	4	100,810,366 (GRCm39)	missense	probably damaging	0.99
R2069:Cachd1	UTSW	4	100,848,041 (GRCm39)	missense	probably damaging	1.00
R2082:Cachd1	UTSW	4	100,860,155 (GRCm39)	missense	probably damaging	1.00
R2267:Cachd1	UTSW	4	100,806,266 (GRCm39)	splice site	probably benign
R2517:Cachd1	UTSW	4	100,838,079 (GRCm39)	splice site	probably null
R2896:Cachd1	UTSW	4	100,828,100 (GRCm39)	missense	probably damaging	1.00
R3729:Cachd1	UTSW	4	100,832,077 (GRCm39)	nonsense	probably null
R3818:Cachd1	UTSW	4	100,848,062 (GRCm39)	missense	probably damaging	1.00
R3979:Cachd1	UTSW	4	100,828,085 (GRCm39)	missense	probably damaging	1.00
R4647:Cachd1	UTSW	4	100,810,327 (GRCm39)	nonsense	probably null
R4791:Cachd1	UTSW	4	100,775,282 (GRCm39)	missense	probably damaging	1.00
R5133:Cachd1	UTSW	4	100,851,935 (GRCm39)	missense	probably damaging	0.98
R5147:Cachd1	UTSW	4	100,821,688 (GRCm39)	missense	probably damaging	1.00
R5187:Cachd1	UTSW	4	100,823,397 (GRCm39)	missense	possibly damaging	0.94
R5335:Cachd1	UTSW	4	100,825,282 (GRCm39)	missense	possibly damaging	0.88
R5390:Cachd1	UTSW	4	100,838,203 (GRCm39)	missense	probably damaging	1.00
R5573:Cachd1	UTSW	4	100,831,276 (GRCm39)	missense	probably damaging	0.99
R5578:Cachd1	UTSW	4	100,722,203 (GRCm39)	missense	probably benign	0.31
R5905:Cachd1	UTSW	4	100,840,753 (GRCm39)	missense	probably damaging	0.99
R6003:Cachd1	UTSW	4	100,809,216 (GRCm39)	missense	possibly damaging	0.79
R6028:Cachd1	UTSW	4	100,840,753 (GRCm39)	missense	probably damaging	0.99
R6185:Cachd1	UTSW	4	100,838,228 (GRCm39)	nonsense	probably null
R6367:Cachd1	UTSW	4	100,860,167 (GRCm39)	missense	probably damaging	1.00
R6492:Cachd1	UTSW	4	100,809,315 (GRCm39)	missense	possibly damaging	0.89
R6591:Cachd1	UTSW	4	100,846,683 (GRCm39)	missense	probably benign
R6691:Cachd1	UTSW	4	100,846,683 (GRCm39)	missense	probably benign
R7129:Cachd1	UTSW	4	100,775,263 (GRCm39)	missense	probably null	0.99
R7187:Cachd1	UTSW	4	100,833,552 (GRCm39)	missense	possibly damaging	0.95
R7387:Cachd1	UTSW	4	100,634,375 (GRCm39)	missense	unknown
R7833:Cachd1	UTSW	4	100,832,012 (GRCm39)	missense	probably benign	0.09
R7835:Cachd1	UTSW	4	100,831,350 (GRCm39)	splice site	probably null
R7838:Cachd1	UTSW	4	100,824,211 (GRCm39)	missense	possibly damaging	0.71
R7867:Cachd1	UTSW	4	100,845,759 (GRCm39)	missense	probably damaging	0.97
R7882:Cachd1	UTSW	4	100,824,244 (GRCm39)	missense	probably benign	0.29
R7941:Cachd1	UTSW	4	100,845,370 (GRCm39)	missense	probably damaging	1.00
R7978:Cachd1	UTSW	4	100,832,060 (GRCm39)	missense	probably damaging	1.00
R8085:Cachd1	UTSW	4	100,845,361 (GRCm39)	missense	probably damaging	1.00
R8153:Cachd1	UTSW	4	100,845,835 (GRCm39)	critical splice donor site	probably null
R8174:Cachd1	UTSW	4	100,823,466 (GRCm39)	missense	probably damaging	0.99
R8219:Cachd1	UTSW	4	100,848,159 (GRCm39)	missense	probably benign	0.34
R8358:Cachd1	UTSW	4	100,816,668 (GRCm39)	missense	possibly damaging	0.94
R8376:Cachd1	UTSW	4	100,832,073 (GRCm39)	missense	probably damaging	0.99
R8686:Cachd1	UTSW	4	100,845,325 (GRCm39)	missense	probably damaging	0.99
R8747:Cachd1	UTSW	4	100,860,045 (GRCm39)	intron	probably benign
R8845:Cachd1	UTSW	4	100,810,343 (GRCm39)	missense	probably benign	0.36
R8864:Cachd1	UTSW	4	100,852,026 (GRCm39)	missense	probably damaging	0.99
R8869:Cachd1	UTSW	4	100,809,280 (GRCm39)	missense	probably benign	0.09
R8870:Cachd1	UTSW	4	100,754,978 (GRCm39)	missense	probably damaging	0.99
R8904:Cachd1	UTSW	4	100,810,363 (GRCm39)	missense	probably damaging	1.00
R8958:Cachd1	UTSW	4	100,851,283 (GRCm39)	missense	probably benign	0.11
R9061:Cachd1	UTSW	4	100,809,202 (GRCm39)	critical splice acceptor site	probably null
R9193:Cachd1	UTSW	4	100,634,339 (GRCm39)	missense	unknown
R9304:Cachd1	UTSW	4	100,824,179 (GRCm39)	missense	possibly damaging	0.81
R9358:Cachd1	UTSW	4	100,833,622 (GRCm39)	missense	probably damaging	0.99
R9373:Cachd1	UTSW	4	100,832,067 (GRCm39)	missense	possibly damaging	0.94
R9425:Cachd1	UTSW	4	100,832,057 (GRCm39)	missense	probably benign
R9632:Cachd1	UTSW	4	100,832,092 (GRCm39)	missense	probably benign	0.34
R9710:Cachd1	UTSW	4	100,832,092 (GRCm39)	missense	probably benign	0.34
R9751:Cachd1	UTSW	4	100,823,438 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCCAGTCTGAGCTCACTCTG -3'
(R):5'- CGTGATAGTTGTATGGGGCCAC -3'

Sequencing Primer
(F):5'- TGACTTGTACCATCCCCCAGAAG -3'
(R):5'- ACTGGCGCTCTCTGGTC -3'

Posted On

2016-07-22