Mutagenetix > Incidental Mutation

Incidental Mutation 'R4384:Dscam'

326137

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik

MMRRC Submission

042002-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96592079-97170752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96709216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 948 (I948F)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056102]

AlphaFold

Q9ERC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000056102
AA Change: I948F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: I948F

Domain	Start	End	E-Value	Type
IG_like	37	109	1.47e0	SMART
IG	130	218	8.33e-1	SMART
IGc2	237	300	8.7e-13	SMART
IGc2	326	392	1.24e-8	SMART
IGc2	419	491	1.1e-9	SMART
IGc2	516	582	1.99e-7	SMART
IGc2	608	676	1.84e-11	SMART
IGc2	702	773	6.01e-16	SMART
IG	794	883	1.73e-7	SMART
FN3	885	969	7.34e-9	SMART
FN3	985	1073	4.06e-11	SMART
FN3	1088	1174	7.23e-8	SMART
FN3	1189	1270	2.6e-9	SMART
IGc2	1301	1366	2.05e-9	SMART
FN3	1380	1460	7.17e-12	SMART
FN3	1477	1557	4.35e1	SMART
transmembrane domain	1595	1617	N/A	INTRINSIC
low complexity region	1799	1809	N/A	INTRINSIC

Meta Mutation Damage Score

0.2448

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

MGI Phenotype

Strain: 4830358; 3840666;5305025;3761008
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted(6) Gene trapped(1) Spontaneous(2)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,568 (GRCm38)	V27E	possibly damaging	Het
Adam23	T	C	1: 63,566,628 (GRCm38)	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,930,157 (GRCm38)	C132*	probably null	Het
Boc	A	T	16: 44,491,182 (GRCm38)	L726H	probably damaging	Het
Brip1	A	T	11: 86,148,429 (GRCm38)	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,988 (GRCm38)	Q654L	probably benign	Het
Calr3	T	A	8: 72,428,164 (GRCm38)	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,748,460 (GRCm38)	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 66,019,908 (GRCm38)	V119A	probably damaging	Het
Ddias	G	A	7: 92,858,223 (GRCm38)	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,811,450 (GRCm38)	Y763C	probably damaging	Het
E030018B13Rik	A	G	7: 63,919,393 (GRCm38)		probably benign	Het
E2f8	G	A	7: 48,867,099 (GRCm38)	T844I	possibly damaging	Het
Eps8	T	A	6: 137,499,592 (GRCm38)	H603L	probably benign	Het
Esrrg	G	A	1: 188,043,711 (GRCm38)	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,594,563 (GRCm38)	R467*	probably null	Het
Gad2	G	A	2: 22,685,410 (GRCm38)	V509I	probably benign	Het
Gpat4	A	G	8: 23,174,586 (GRCm38)	I446T	probably benign	Het
Klhl12	T	G	1: 134,487,654 (GRCm38)	D435E	probably damaging	Het
Luc7l	T	C	17: 26,279,962 (GRCm38)		probably benign	Het
Marchf2	C	A	17: 33,696,193 (GRCm38)	M142I	probably benign	Het
Marf1	T	A	16: 14,142,641 (GRCm38)	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,696,439 (GRCm38)	D114G	possibly damaging	Het
Med1	G	A	11: 98,152,862 (GRCm38)		probably benign	Het
Meikin	C	T	11: 54,417,787 (GRCm38)	Q404*	probably null	Het
Myh9	A	T	15: 77,791,712 (GRCm38)		probably benign	Het
Mylip	T	C	13: 45,389,958 (GRCm38)	M1T	probably null	Het
Ncapg2	T	C	12: 116,439,877 (GRCm38)		probably null	Het
Nmd3	T	C	3: 69,724,398 (GRCm38)		probably benign	Het
Nwd2	T	A	5: 63,806,571 (GRCm38)	L1166H	probably damaging	Het
Or1j13	A	G	2: 36,479,998 (GRCm38)	L44P	probably damaging	Het
Or8b48	T	C	9: 38,582,053 (GRCm38)	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,856,902 (GRCm38)	I71T	probably damaging	Het
Rwdd3	T	C	3: 121,158,757 (GRCm38)		probably benign	Het
Ryr2	T	C	13: 11,605,233 (GRCm38)	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,298,257 (GRCm38)	Q273R	probably benign	Het
Sdha	A	T	13: 74,326,985 (GRCm38)	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,702,883 (GRCm38)	L771P	probably damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,247,727 (GRCm38)	E624G	possibly damaging	Het
Tada3	G	T	6: 113,370,379 (GRCm38)	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,247,933 (GRCm38)	M130V	probably damaging	Het
Trpc1	C	A	9: 95,732,108 (GRCm38)	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,640,507 (GRCm38)	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,917,725 (GRCm38)	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,428,682 (GRCm38)	S80P	probably benign	Het
Usp54	A	T	14: 20,550,085 (GRCm38)		probably null	Het
Vmn2r27	A	G	6: 124,224,156 (GRCm38)	Y281H	probably benign	Het
Vwf	T	A	6: 125,655,116 (GRCm38)	I37N	unknown	Het
Zfp329	G	A	7: 12,811,657 (GRCm38)		probably benign	Het
Zfp616	G	T	11: 74,083,179 (GRCm38)	L91F	possibly damaging	Het

Other mutations in Dscam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dscam	APN	16	96,608,065 (GRCm38)	missense	possibly damaging	0.64
IGL00841:Dscam	APN	16	96,819,877 (GRCm38)	missense	probably damaging	1.00
IGL01289:Dscam	APN	16	96,643,882 (GRCm38)	nonsense	probably null
IGL01358:Dscam	APN	16	96,610,343 (GRCm38)	missense	possibly damaging	0.68
IGL01431:Dscam	APN	16	96,652,078 (GRCm38)	critical splice donor site	probably null
IGL01444:Dscam	APN	16	96,673,709 (GRCm38)	missense	possibly damaging	0.95
IGL01767:Dscam	APN	16	96,654,936 (GRCm38)	missense	probably damaging	1.00
IGL01866:Dscam	APN	16	96,685,350 (GRCm38)	missense	probably benign	0.06
IGL02020:Dscam	APN	16	96,716,069 (GRCm38)	missense	probably damaging	1.00
IGL02023:Dscam	APN	16	96,801,197 (GRCm38)	missense	probably benign	0.06
IGL02057:Dscam	APN	16	96,716,073 (GRCm38)	nonsense	probably null
IGL02389:Dscam	APN	16	96,640,897 (GRCm38)	missense	probably benign	0.27
IGL02409:Dscam	APN	16	96,819,888 (GRCm38)	missense	possibly damaging	0.46
IGL02694:Dscam	APN	16	96,593,276 (GRCm38)	missense	probably benign	0.00
IGL02899:Dscam	APN	16	96,709,247 (GRCm38)	missense	probably damaging	0.98
IGL02956:Dscam	APN	16	96,801,272 (GRCm38)	missense	probably damaging	0.98
IGL03035:Dscam	APN	16	96,819,970 (GRCm38)	missense	possibly damaging	0.94
IGL03191:Dscam	APN	16	96,820,769 (GRCm38)	missense	probably benign	0.36
growler	UTSW	16	96,820,997 (GRCm38)	missense	probably damaging	0.99
Twostep	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
F6893:Dscam	UTSW	16	97,056,460 (GRCm38)	missense	possibly damaging	0.78
K3955:Dscam	UTSW	16	96,673,687 (GRCm38)	missense	probably benign	0.00
R0024:Dscam	UTSW	16	96,593,385 (GRCm38)	nonsense	probably null
R0057:Dscam	UTSW	16	96,673,736 (GRCm38)	missense	probably damaging	1.00
R0057:Dscam	UTSW	16	96,673,736 (GRCm38)	missense	probably damaging	1.00
R0117:Dscam	UTSW	16	96,673,678 (GRCm38)	missense	probably benign	0.33
R0211:Dscam	UTSW	16	96,716,079 (GRCm38)	missense	possibly damaging	0.50
R0280:Dscam	UTSW	16	97,039,006 (GRCm38)	missense	possibly damaging	0.62
R0355:Dscam	UTSW	16	96,654,905 (GRCm38)	missense	probably benign	0.00
R0380:Dscam	UTSW	16	97,056,610 (GRCm38)	missense	probably damaging	1.00
R0445:Dscam	UTSW	16	96,772,503 (GRCm38)	missense	probably damaging	1.00
R0492:Dscam	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
R0534:Dscam	UTSW	16	96,652,172 (GRCm38)	missense	possibly damaging	0.67
R0593:Dscam	UTSW	16	96,772,408 (GRCm38)	missense	probably benign	0.19
R0707:Dscam	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
R0738:Dscam	UTSW	16	96,819,781 (GRCm38)	missense	possibly damaging	0.48
R1017:Dscam	UTSW	16	96,833,433 (GRCm38)	missense	probably damaging	1.00
R1377:Dscam	UTSW	16	96,772,494 (GRCm38)	missense	probably damaging	1.00
R1440:Dscam	UTSW	16	96,819,951 (GRCm38)	missense	probably damaging	1.00
R1442:Dscam	UTSW	16	96,608,074 (GRCm38)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,801,253 (GRCm38)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,801,253 (GRCm38)	missense	possibly damaging	0.94
R1478:Dscam	UTSW	16	96,790,910 (GRCm38)	missense	probably benign	0.15
R1530:Dscam	UTSW	16	96,819,874 (GRCm38)	missense	probably damaging	1.00
R1731:Dscam	UTSW	16	96,819,876 (GRCm38)	missense	probably damaging	1.00
R1765:Dscam	UTSW	16	96,685,379 (GRCm38)	missense	probably benign	0.00
R1824:Dscam	UTSW	16	96,825,581 (GRCm38)	missense	probably benign	0.00
R1933:Dscam	UTSW	16	96,593,214 (GRCm38)	missense	probably benign	0.00
R2005:Dscam	UTSW	16	97,038,920 (GRCm38)	missense	probably benign	0.02
R2006:Dscam	UTSW	16	96,819,912 (GRCm38)	missense	probably damaging	1.00
R2101:Dscam	UTSW	16	96,610,349 (GRCm38)	missense	probably benign	0.00
R2177:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	0.98
R2342:Dscam	UTSW	16	96,619,502 (GRCm38)	missense	probably damaging	1.00
R2851:Dscam	UTSW	16	96,622,715 (GRCm38)	missense	possibly damaging	0.94
R2929:Dscam	UTSW	16	96,685,412 (GRCm38)	missense	possibly damaging	0.76
R3055:Dscam	UTSW	16	96,801,355 (GRCm38)	missense	probably damaging	1.00
R3157:Dscam	UTSW	16	96,678,510 (GRCm38)	missense	probably benign	0.16
R3159:Dscam	UTSW	16	96,678,510 (GRCm38)	missense	probably benign	0.16
R3944:Dscam	UTSW	16	96,820,997 (GRCm38)	missense	probably damaging	0.99
R4080:Dscam	UTSW	16	96,683,772 (GRCm38)	missense	probably benign	0.01
R4285:Dscam	UTSW	16	96,709,109 (GRCm38)	critical splice donor site	probably null
R4460:Dscam	UTSW	16	96,610,319 (GRCm38)	missense	probably damaging	1.00
R4575:Dscam	UTSW	16	96,825,623 (GRCm38)	missense	possibly damaging	0.82
R4594:Dscam	UTSW	16	96,717,996 (GRCm38)	missense	possibly damaging	0.78
R4643:Dscam	UTSW	16	96,685,301 (GRCm38)	missense	probably damaging	0.96
R4698:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	1.00
R4716:Dscam	UTSW	16	96,619,571 (GRCm38)	missense	possibly damaging	0.80
R4743:Dscam	UTSW	16	96,830,056 (GRCm38)	missense	probably benign	0.00
R4766:Dscam	UTSW	16	96,643,988 (GRCm38)	missense	probably benign	0.02
R4899:Dscam	UTSW	16	96,683,818 (GRCm38)	missense	probably benign	0.01
R4987:Dscam	UTSW	16	96,697,521 (GRCm38)	missense	probably benign	0.00
R4990:Dscam	UTSW	16	96,825,515 (GRCm38)	missense	probably benign	0.12
R5123:Dscam	UTSW	16	96,772,437 (GRCm38)	missense	probably damaging	1.00
R5130:Dscam	UTSW	16	96,819,779 (GRCm38)	missense	probably benign	0.00
R5328:Dscam	UTSW	16	96,673,678 (GRCm38)	missense	probably benign	0.33
R5666:Dscam	UTSW	16	96,718,164 (GRCm38)	missense	probably benign	0.23
R5670:Dscam	UTSW	16	96,718,164 (GRCm38)	missense	probably benign	0.23
R5678:Dscam	UTSW	16	96,790,900 (GRCm38)	missense	probably benign	0.16
R5827:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R5907:Dscam	UTSW	16	96,820,920 (GRCm38)	missense	probably damaging	0.97
R6032:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R6032:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R6103:Dscam	UTSW	16	96,825,581 (GRCm38)	missense	probably benign
R6240:Dscam	UTSW	16	96,619,502 (GRCm38)	missense	probably damaging	1.00
R6257:Dscam	UTSW	16	96,673,714 (GRCm38)	missense	possibly damaging	0.94
R6361:Dscam	UTSW	16	96,622,811 (GRCm38)	missense	probably benign	0.08
R6405:Dscam	UTSW	16	96,678,425 (GRCm38)	missense	probably damaging	1.00
R6444:Dscam	UTSW	16	96,619,644 (GRCm38)	missense	probably damaging	1.00
R6560:Dscam	UTSW	16	96,825,735 (GRCm38)	missense	probably benign	0.00
R6598:Dscam	UTSW	16	96,819,784 (GRCm38)	missense	probably damaging	1.00
R6622:Dscam	UTSW	16	96,645,073 (GRCm38)	missense	probably benign	0.06
R6792:Dscam	UTSW	16	96,648,237 (GRCm38)	missense	probably damaging	1.00
R6792:Dscam	UTSW	16	96,593,255 (GRCm38)	missense	probably damaging	0.96
R6827:Dscam	UTSW	16	97,038,991 (GRCm38)	missense	probably damaging	1.00
R6868:Dscam	UTSW	16	96,829,940 (GRCm38)	missense	probably damaging	1.00
R6898:Dscam	UTSW	16	96,829,900 (GRCm38)	missense	probably benign	0.02
R6903:Dscam	UTSW	16	96,820,788 (GRCm38)	missense	probably damaging	1.00
R7051:Dscam	UTSW	16	96,819,786 (GRCm38)	missense	probably benign	0.01
R7146:Dscam	UTSW	16	96,829,917 (GRCm38)	nonsense	probably null
R7180:Dscam	UTSW	16	96,825,564 (GRCm38)	missense	probably damaging	0.97
R7209:Dscam	UTSW	16	96,650,344 (GRCm38)	splice site	probably null
R7247:Dscam	UTSW	16	96,820,808 (GRCm38)	missense	probably damaging	0.99
R7269:Dscam	UTSW	16	96,678,401 (GRCm38)	missense	probably benign	0.00
R7301:Dscam	UTSW	16	97,056,532 (GRCm38)	missense	probably benign	0.01
R7328:Dscam	UTSW	16	96,645,035 (GRCm38)	nonsense	probably null
R7368:Dscam	UTSW	16	96,643,931 (GRCm38)	missense	probably benign	0.00
R7425:Dscam	UTSW	16	96,629,398 (GRCm38)	missense	probably damaging	1.00
R7474:Dscam	UTSW	16	96,819,889 (GRCm38)	missense	possibly damaging	0.88
R7536:Dscam	UTSW	16	96,641,026 (GRCm38)	splice site	probably null
R7624:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	1.00
R7766:Dscam	UTSW	16	96,790,901 (GRCm38)	missense	probably benign	0.31
R7817:Dscam	UTSW	16	96,640,864 (GRCm38)	missense	probably benign
R7843:Dscam	UTSW	16	96,825,630 (GRCm38)	missense	probably damaging	0.99
R7911:Dscam	UTSW	16	96,643,922 (GRCm38)	missense	probably benign	0.01
R8108:Dscam	UTSW	16	96,643,879 (GRCm38)	missense	probably benign	0.01
R8128:Dscam	UTSW	16	96,801,174 (GRCm38)	splice site	probably null
R8770:Dscam	UTSW	16	96,654,906 (GRCm38)	missense	possibly damaging	0.50
R8876:Dscam	UTSW	16	96,619,628 (GRCm38)	missense	probably damaging	0.96
R9005:Dscam	UTSW	16	96,801,380 (GRCm38)	missense	probably damaging	1.00
R9009:Dscam	UTSW	16	97,038,916 (GRCm38)	missense	probably benign	0.10
R9168:Dscam	UTSW	16	96,619,568 (GRCm38)	missense	possibly damaging	0.82
R9176:Dscam	UTSW	16	96,685,353 (GRCm38)	missense	probably benign	0.37
R9244:Dscam	UTSW	16	96,685,229 (GRCm38)	missense	possibly damaging	0.62
R9339:Dscam	UTSW	16	96,716,063 (GRCm38)	missense	possibly damaging	0.89
R9374:Dscam	UTSW	16	97,056,657 (GRCm38)	missense	probably benign	0.19
R9385:Dscam	UTSW	16	97,039,003 (GRCm38)	missense	probably benign
R9674:Dscam	UTSW	16	96,640,836 (GRCm38)	missense	probably benign	0.03
X0025:Dscam	UTSW	16	96,709,161 (GRCm38)	missense	probably damaging	1.00
Z1088:Dscam	UTSW	16	96,772,561 (GRCm38)	missense	probably benign	0.01
Z1177:Dscam	UTSW	16	96,608,189 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCATTTCTATAGGCCATGGGG -3'
(R):5'- GACCAGTTCAGACAAGAAGCTG -3'

Sequencing Primer
(F):5'- GGGGAAAGGTCTAATTCTAAGTGTC -3'
(R):5'- GCTGGAAACATTGTATTGAGATTTCG -3'

Posted On

2015-07-06