Incidental Mutation 'IGL01444:Dscam'
ID 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 16
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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