Incidental Mutation 'IGL03008:Dab1'
ID 407642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dab1
Ensembl Gene ENSMUSG00000028519
Gene Name disabled 1
Synonyms C630028C02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # IGL03008
Quality Score
Status
Chromosome 4
Chromosomal Location 103476556-104602041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104584777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 306 (V306F)
Ref Sequence ENSEMBL: ENSMUSP00000102443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106830] [ENSMUST00000146078]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000106830
AA Change: V306F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519
AA Change: V306F

DomainStartEndE-ValueType
PTB 37 171 3.51e-36 SMART
low complexity region 254 267 N/A INTRINSIC
low complexity region 470 487 N/A INTRINSIC
low complexity region 490 501 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146078
SMART Domains Protein: ENSMUSP00000125033
Gene: ENSMUSG00000028519

DomainStartEndE-ValueType
PTB 37 171 3.51e-36 SMART
low complexity region 235 242 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous null display unstable gait and whole-body tremor with a hypoplastic cerebellum devoid of folia, a probable consequence of defective neuronal migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
Ankrd34c C T 9: 89,612,337 (GRCm39) M1I probably null Het
Ankrd44 T C 1: 54,805,968 (GRCm39) H146R probably damaging Het
Bst1 A G 5: 43,983,604 (GRCm39) probably null Het
Btbd8 T G 5: 107,639,464 (GRCm39) probably null Het
Cdh12 A T 15: 21,480,416 (GRCm39) I211F probably damaging Het
Cenpj G T 14: 56,764,406 (GRCm39) D1335E probably benign Het
Clpx G A 9: 65,230,057 (GRCm39) V502I possibly damaging Het
Cntnap4 T C 8: 113,500,222 (GRCm39) S505P probably benign Het
Cog2 T C 8: 125,262,131 (GRCm39) probably benign Het
Cped1 A G 6: 22,233,601 (GRCm39) Q819R probably benign Het
Cspg4 A G 9: 56,805,759 (GRCm39) E2190G possibly damaging Het
Ctsa G A 2: 164,679,368 (GRCm39) R359Q probably damaging Het
Cul9 A G 17: 46,813,623 (GRCm39) probably benign Het
Dysf A G 6: 84,050,876 (GRCm39) I438V probably benign Het
Eif4g3 G T 4: 137,847,699 (GRCm39) G380W probably damaging Het
Exd1 T A 2: 119,350,862 (GRCm39) K466N probably benign Het
Eya3 A C 4: 132,434,294 (GRCm39) D325A probably damaging Het
Fmn1 A G 2: 113,195,445 (GRCm39) T382A unknown Het
Fry T A 5: 150,269,021 (GRCm39) D106E possibly damaging Het
Gm21957 T A 7: 124,818,733 (GRCm39) noncoding transcript Het
Gm44511 A G 6: 128,761,059 (GRCm39) probably benign Het
Itga4 A G 2: 79,155,982 (GRCm39) I983V probably benign Het
Lrpprc A T 17: 85,058,675 (GRCm39) D5E probably benign Het
Lrrc37 T C 11: 103,511,293 (GRCm39) E225G unknown Het
Ltbp4 G T 7: 27,023,789 (GRCm39) N747K probably damaging Het
Minar1 A G 9: 89,478,731 (GRCm39) Y772H probably damaging Het
Mlh3 T C 12: 85,287,625 (GRCm39) Q1308R probably benign Het
Mtfr2 T A 10: 20,229,185 (GRCm39) C63S possibly damaging Het
Myh11 T A 16: 14,022,617 (GRCm39) M1661L probably benign Het
Myo1c T C 11: 75,549,240 (GRCm39) M137T probably benign Het
Myocd A C 11: 65,078,392 (GRCm39) L340V probably damaging Het
Napsa A T 7: 44,235,220 (GRCm39) Q335L possibly damaging Het
Nlrp4b C A 7: 10,448,516 (GRCm39) Q240K probably benign Het
Npepps A C 11: 97,128,984 (GRCm39) F400C probably damaging Het
Nxpe4 A T 9: 48,304,738 (GRCm39) E275V probably benign Het
Ofd1 T C X: 165,192,530 (GRCm39) D501G probably benign Het
Or13a19 T C 7: 139,903,445 (GRCm39) Y278H probably damaging Het
Or4f6 A G 2: 111,838,868 (GRCm39) I221T possibly damaging Het
Or5p79 T G 7: 108,221,490 (GRCm39) L157R probably damaging Het
Or8k41 A T 2: 86,313,678 (GRCm39) M136K probably damaging Het
P2ry1 A T 3: 60,910,947 (GRCm39) T29S probably benign Het
Papss1 T C 3: 131,290,860 (GRCm39) V201A possibly damaging Het
Paxip1 A G 5: 27,957,764 (GRCm39) V864A probably benign Het
Pcdhgc5 T A 18: 37,954,887 (GRCm39) H720Q probably benign Het
Pdxdc1 T C 16: 13,694,023 (GRCm39) N133S possibly damaging Het
Prkar1a T C 11: 109,544,690 (GRCm39) I27T probably damaging Het
Rnf10 G T 5: 115,389,355 (GRCm39) H271N possibly damaging Het
Scn9a A G 2: 66,392,855 (GRCm39) S246P probably damaging Het
Sertad2 G T 11: 20,597,798 (GRCm39) probably benign Het
Slc22a27 A G 19: 7,887,067 (GRCm39) I274T possibly damaging Het
Slc22a5 A T 11: 53,782,058 (GRCm39) V103E probably damaging Het
Slc5a9 A T 4: 111,748,138 (GRCm39) F225I probably benign Het
Slc6a3 G A 13: 73,706,404 (GRCm39) probably null Het
Smcr8 A G 11: 60,669,287 (GRCm39) E145G probably damaging Het
Spen A T 4: 141,203,448 (GRCm39) D1726E possibly damaging Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stag1 A T 9: 100,658,844 (GRCm39) N144Y probably damaging Het
Strada T C 11: 106,061,783 (GRCm39) H156R probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r138 A C 6: 40,590,116 (GRCm39) D43E probably damaging Het
Tdpoz3 A T 3: 93,733,642 (GRCm39) K106* probably null Het
Trbv13-1 A G 6: 41,093,229 (GRCm39) D54G probably damaging Het
Ttc39b A G 4: 83,165,932 (GRCm39) V218A probably benign Het
Ttn G A 2: 76,611,203 (GRCm39) T15697I probably damaging Het
Ugt2b38 G A 5: 87,560,282 (GRCm39) T344I probably benign Het
Vmn2r94 T C 17: 18,477,908 (GRCm39) M168V probably benign Het
Wdr11 T C 7: 129,208,715 (GRCm39) probably benign Het
Wipf2 T C 11: 98,783,554 (GRCm39) probably benign Het
Zranb2 T A 3: 157,252,302 (GRCm39) probably null Het
Other mutations in Dab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Dab1 APN 4 104,535,950 (GRCm39) missense possibly damaging 0.90
IGL00087:Dab1 APN 4 104,536,007 (GRCm39) missense probably damaging 1.00
IGL00328:Dab1 APN 4 104,545,635 (GRCm39) missense possibly damaging 0.55
IGL00756:Dab1 APN 4 104,585,075 (GRCm39) missense probably benign
IGL02074:Dab1 APN 4 104,585,051 (GRCm39) missense possibly damaging 0.90
IGL02286:Dab1 APN 4 104,537,267 (GRCm39) missense probably damaging 1.00
IGL02986:Dab1 APN 4 104,336,418 (GRCm39) missense probably benign 0.00
IGL03133:Dab1 APN 4 104,584,777 (GRCm39) missense probably benign 0.41
IGL03375:Dab1 APN 4 104,538,798 (GRCm39) missense possibly damaging 0.70
LCD18:Dab1 UTSW 4 103,903,769 (GRCm39) intron probably benign
R0027:Dab1 UTSW 4 104,561,396 (GRCm39) intron probably benign
R0466:Dab1 UTSW 4 104,577,747 (GRCm39) missense probably benign 0.15
R0838:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R0840:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1086:Dab1 UTSW 4 104,185,769 (GRCm39) intron probably benign
R1598:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1640:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1699:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1749:Dab1 UTSW 4 104,185,495 (GRCm39) intron probably benign
R1770:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1846:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1847:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1848:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1885:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R1986:Dab1 UTSW 4 104,470,412 (GRCm39) missense probably damaging 0.97
R1990:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2006:Dab1 UTSW 4 104,462,522 (GRCm39) missense probably damaging 1.00
R2030:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2032:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2034:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2061:Dab1 UTSW 4 104,535,938 (GRCm39) missense probably damaging 1.00
R2088:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2089:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2091:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2091:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2092:Dab1 UTSW 4 104,535,974 (GRCm39) missense probably damaging 1.00
R2193:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2194:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2361:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2362:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2391:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2424:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R2865:Dab1 UTSW 4 104,537,343 (GRCm39) missense probably benign
R3118:Dab1 UTSW 4 104,537,266 (GRCm39) critical splice acceptor site probably null
R3716:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R3718:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R3740:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R3742:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R3965:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4057:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4393:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4396:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4418:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4607:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4608:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4648:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4693:Dab1 UTSW 4 104,536,750 (GRCm39) missense probably damaging 1.00
R4701:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4730:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R4760:Dab1 UTSW 4 104,589,342 (GRCm39) missense probably damaging 1.00
R4927:Dab1 UTSW 4 104,561,449 (GRCm39) missense probably benign
R5173:Dab1 UTSW 4 104,545,645 (GRCm39) splice site probably null
R5503:Dab1 UTSW 4 104,369,461 (GRCm39) missense probably benign 0.01
R6199:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6200:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6207:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6224:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6227:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6228:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6229:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6246:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6247:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6248:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6249:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6250:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6258:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6259:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6260:Dab1 UTSW 4 104,588,948 (GRCm39) missense probably benign 0.29
R6505:Dab1 UTSW 4 104,369,461 (GRCm39) missense probably benign 0.01
R6817:Dab1 UTSW 4 104,536,743 (GRCm39) missense probably damaging 1.00
R7305:Dab1 UTSW 4 104,570,987 (GRCm39) missense
R7709:Dab1 UTSW 4 104,577,756 (GRCm39) nonsense probably null
R7894:Dab1 UTSW 4 104,589,335 (GRCm39) missense probably benign 0.03
R8142:Dab1 UTSW 4 104,535,921 (GRCm39) missense probably damaging 1.00
R8462:Dab1 UTSW 4 104,561,404 (GRCm39) missense probably benign 0.10
R8472:Dab1 UTSW 4 104,336,439 (GRCm39) missense possibly damaging 0.89
R9138:Dab1 UTSW 4 104,588,929 (GRCm39) nonsense probably null
R9311:Dab1 UTSW 4 104,369,463 (GRCm39) critical splice donor site probably null
RF017:Dab1 UTSW 4 104,570,849 (GRCm39) missense probably benign 0.01
Z1088:Dab1 UTSW 4 104,336,429 (GRCm39) missense probably damaging 0.99
Z1176:Dab1 UTSW 4 104,585,275 (GRCm39) missense probably benign 0.00
Z1177:Dab1 UTSW 4 104,584,937 (GRCm39) missense probably benign 0.05
Posted On 2016-08-02