Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01444:Dscam'

84361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik

Accession Numbers

Genbank: NM_031174; MGI: 1196281

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

96592079-97170752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96673709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1218 (I1218F)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056102
AA Change: I1218F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: I1218F

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

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	G	11: 23,620,225 (GRCm38)		probably benign	Het
Adad1	A	T	3: 37,092,034 (GRCm38)	N517I	probably damaging	Het
Adam25	G	A	8: 40,754,921 (GRCm38)	R408H	probably benign	Het
Ang	C	A	14: 51,101,667 (GRCm38)	Y88*	probably null	Het
Ankrd42	T	C	7: 92,610,585 (GRCm38)	T327A	probably damaging	Het
Birc6	A	G	17: 74,631,687 (GRCm38)	D2696G	probably damaging	Het
Chd3	G	A	11: 69,348,742 (GRCm38)	T1717M	probably benign	Het
Csmd1	T	A	8: 16,200,055 (GRCm38)	M970L	probably benign	Het
Dhx32	T	C	7: 133,748,977 (GRCm38)	I121M	possibly damaging	Het
Dnah11	G	A	12: 118,020,232 (GRCm38)	S2506F	possibly damaging	Het
Duox1	T	C	2: 122,340,090 (GRCm38)	L1197P	probably damaging	Het
Eps8l2	T	C	7: 141,361,375 (GRCm38)		probably benign	Het
Exoc3	T	C	13: 74,206,935 (GRCm38)	K49R	probably damaging	Het
Exoc8	T	A	8: 124,895,841 (GRCm38)	T596S	possibly damaging	Het
F13a1	C	T	13: 36,918,577 (GRCm38)	G391R	probably null	Het
Fam35a	C	A	14: 34,237,557 (GRCm38)	V823F	probably damaging	Het
Fat3	A	T	9: 15,998,848 (GRCm38)	S1953T	probably damaging	Het
Gls2	C	A	10: 128,201,347 (GRCm38)	N252K	probably damaging	Het
Gm5346	A	T	8: 43,626,433 (GRCm38)	D251E	probably benign	Het
Haus2	G	A	2: 120,615,942 (GRCm38)	R115K	probably benign	Het
Ift122	A	G	6: 115,884,379 (GRCm38)	K262E	probably benign	Het
Islr2	C	T	9: 58,198,378 (GRCm38)	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,443,716 (GRCm38)	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,216,169 (GRCm38)	R354W	probably damaging	Het
Olfr776	T	A	10: 129,261,335 (GRCm38)	C125S	probably damaging	Het
Pcolce	A	T	5: 137,607,476 (GRCm38)	S200R	probably damaging	Het
Plec	A	G	15: 76,179,297 (GRCm38)	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,780,372 (GRCm38)	D74E	probably benign	Het
Ptk7	A	G	17: 46,565,387 (GRCm38)	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,475,300 (GRCm38)	Y887H	possibly damaging	Het
Sez6l2	G	A	7: 126,961,883 (GRCm38)	E447K	possibly damaging	Het
Snrnp70	C	T	7: 45,387,236 (GRCm38)		probably null	Het
Timm10	T	A	2: 84,829,864 (GRCm38)	V49E	probably damaging	Het
Tox2	T	C	2: 163,225,466 (GRCm38)		probably benign	Het
Usp20	T	A	2: 30,998,789 (GRCm38)	M1K	probably null	Het
Usp32	A	C	11: 85,059,164 (GRCm38)	L223V	probably damaging	Het
Zeb1	T	C	18: 5,767,138 (GRCm38)	S550P	probably benign	Het
Zeb1	G	T	18: 5,767,906 (GRCm38)	A806S	probably 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
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
R4384:Dscam	UTSW	16	96,709,216 (GRCm38)	missense	probably damaging	0.99
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

Posted On

2013-11-11