Incidental Mutation 'R1990:Dab1'
ID 224868
Institutional Source Beutler Lab
Gene Symbol Dab1
Ensembl Gene ENSMUSG00000028519
Gene Name disabled 1
Synonyms C630028C02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R1990 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 103476556-104602041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104588948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 524 (A524V)
Ref Sequence ENSEMBL: ENSMUSP00000102443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106830] [ENSMUST00000146078]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000106830
AA Change: A524V

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519
AA Change: A524V

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
Meta Mutation Damage Score 0.2232 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,771,419 (GRCm39) R203* probably null Het
Acp6 T C 3: 97,083,054 (GRCm39) L355P probably damaging Het
Aebp2 T C 6: 140,579,464 (GRCm39) S234P probably damaging Het
Anapc7 A G 5: 122,577,567 (GRCm39) D374G probably benign Het
Apob A T 12: 8,051,039 (GRCm39) I1088F probably damaging Het
Arid4b T C 13: 14,307,021 (GRCm39) V92A probably damaging Het
Armc3 T C 2: 19,297,953 (GRCm39) Y575H probably damaging Het
Asxl2 G T 12: 3,534,558 (GRCm39) G252* probably null Het
Atl1 A T 12: 70,010,102 (GRCm39) K556M probably damaging Het
AU018091 A G 7: 3,212,104 (GRCm39) V206A probably benign Het
Bcas1 A T 2: 170,212,397 (GRCm39) D383E possibly damaging Het
Bmx A G X: 163,015,192 (GRCm39) W257R probably benign Het
Bpifb6 T C 2: 153,747,270 (GRCm39) probably null Het
Cacna1b G A 2: 24,622,318 (GRCm39) P222L probably damaging Het
Cand1 A G 10: 119,045,972 (GRCm39) S978P probably damaging Het
Cap2 T A 13: 46,791,357 (GRCm39) Y175N possibly damaging Het
Caps2 G A 10: 112,036,591 (GRCm39) A384T probably benign Het
Catsperg2 A T 7: 29,420,470 (GRCm39) Y223* probably null Het
Cd81 G T 7: 142,620,938 (GRCm39) G206* probably null Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdkn2aip G T 8: 48,165,211 (GRCm39) N167K probably benign Het
Ceacam14 T A 7: 17,549,290 (GRCm39) L227* probably null Het
Ceacam5 A T 7: 17,491,805 (GRCm39) D725V probably damaging Het
Cldn34a A T X: 151,346,841 (GRCm39) H171L probably benign Het
Col18a1 T C 10: 76,916,988 (GRCm39) I114V unknown Het
Cp A G 3: 20,033,177 (GRCm39) D667G probably damaging Het
Cr2 G A 1: 194,836,458 (GRCm39) P1278S possibly damaging Het
Crat A G 2: 30,295,060 (GRCm39) Y452H possibly damaging Het
Cyp4f13 T A 17: 33,144,542 (GRCm39) H318L probably damaging Het
Dmbt1 A G 7: 130,660,018 (GRCm39) N527S probably damaging Het
Fcgbpl1 A T 7: 27,853,785 (GRCm39) D1583V probably damaging Het
Fgb G T 3: 82,951,560 (GRCm39) Y256* probably null Het
Frmd3 T A 4: 74,105,676 (GRCm39) S441T probably damaging Het
Glp1r T A 17: 31,149,722 (GRCm39) C329S possibly damaging Het
Gm14190 G T 11: 99,581,431 (GRCm39) Q46K unknown Het
Golt1b T A 6: 142,338,080 (GRCm39) F17Y probably damaging Het
Gsdmc A G 15: 63,673,748 (GRCm39) I179T probably benign Het
Gsdmc2 T A 15: 63,700,086 (GRCm39) M229L probably benign Het
Gulp1 A C 1: 44,805,274 (GRCm39) N121T possibly damaging Het
Ift122 T A 6: 115,901,328 (GRCm39) F1037I probably damaging Het
Ildr1 A T 16: 36,536,568 (GRCm39) Y199F probably damaging Het
Ints2 T A 11: 86,139,760 (GRCm39) H278L possibly damaging Het
Invs T C 4: 48,392,599 (GRCm39) V271A possibly damaging Het
Kcnj2 T C 11: 110,963,709 (GRCm39) I367T probably benign Het
Kif21b T C 1: 136,089,508 (GRCm39) S1115P probably damaging Het
Lce1k A T 3: 92,714,125 (GRCm39) C20S unknown Het
Lcmt2 C A 2: 120,970,762 (GRCm39) R107L probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lrrc9 A C 12: 72,544,635 (GRCm39) R71S probably damaging Het
Mcc C A 18: 44,624,382 (GRCm39) E213* probably null Het
Mis18bp1 T C 12: 65,205,468 (GRCm39) T235A probably benign Het
Mta2 C T 19: 8,919,696 (GRCm39) probably benign Het
Nebl T A 2: 17,457,321 (GRCm39) I80F probably damaging Het
Nek10 A G 14: 14,860,764 (GRCm38) T467A probably benign Het
Nexn A T 3: 151,958,576 (GRCm39) F106I probably damaging Het
Nrdc T A 4: 108,896,972 (GRCm39) Y282* probably null Het
Nxf3 G A X: 134,976,583 (GRCm39) P380S possibly damaging Het
Oma1 C T 4: 103,178,971 (GRCm39) T208I probably damaging Het
Or1a1 T C 11: 74,086,989 (GRCm39) V220A probably damaging Het
Or4c31 A G 2: 88,291,686 (GRCm39) M1V probably null Het
Or4d10c C A 19: 12,065,620 (GRCm39) V179F probably damaging Het
Or4p21 A G 2: 88,277,033 (GRCm39) L83P probably damaging Het
Or51a42 A T 7: 103,708,335 (GRCm39) I158N possibly damaging Het
Or52l1 A T 7: 104,830,221 (GRCm39) C115S probably damaging Het
Or5p66 C A 7: 107,885,566 (GRCm39) G256* probably null Het
Or5p70 A G 7: 107,995,041 (GRCm39) Y238C probably benign Het
Panx2 A T 15: 88,953,941 (GRCm39) Y632F possibly damaging Het
Pdia4 T C 6: 47,773,589 (GRCm39) T587A probably benign Het
Piezo2 A T 18: 63,207,733 (GRCm39) L1426Q probably null Het
Pigk T A 3: 152,450,131 (GRCm39) Y212N probably damaging Het
Pramel22 T A 4: 143,380,838 (GRCm39) Y395F probably damaging Het
Prl3b1 C T 13: 27,429,775 (GRCm39) T71I possibly damaging Het
Rab3gap1 A G 1: 127,870,166 (GRCm39) E929G possibly damaging Het
Rabl3 T C 16: 37,384,079 (GRCm39) I162T probably benign Het
Rasgrf2 T A 13: 92,172,473 (GRCm39) T188S probably damaging Het
Slc12a2 A G 18: 58,043,358 (GRCm39) I601V possibly damaging Het
Slc25a42 A T 8: 70,644,519 (GRCm39) I60N probably benign Het
Slc2a3 C T 6: 122,713,694 (GRCm39) G173S probably damaging Het
Slc46a3 G A 5: 147,823,404 (GRCm39) T146M probably damaging Het
Specc1 C A 11: 61,920,120 (GRCm39) P7T possibly damaging Het
Sptbn4 T C 7: 27,123,235 (GRCm39) D229G probably benign Het
Sspo T C 6: 48,427,984 (GRCm39) I154T probably benign Het
Stx5a T C 19: 8,726,254 (GRCm39) probably null Het
Stxbp6 A T 12: 44,902,640 (GRCm39) C210* probably null Het
Tagap1 C T 17: 7,224,285 (GRCm39) R137Q probably benign Het
Tbc1d9 A G 8: 83,997,932 (GRCm39) Y1163C probably damaging Het
Tex14 T G 11: 87,440,296 (GRCm39) L1367R probably damaging Het
Tnnt3 C T 7: 142,065,262 (GRCm39) R131C possibly damaging Het
Tpx2 T A 2: 152,732,544 (GRCm39) M606K probably benign Het
Trim46 A T 3: 89,145,008 (GRCm39) Y489N probably damaging Het
Ttc28 C T 5: 111,424,188 (GRCm39) S1485L probably benign Het
Txnl1 T C 18: 63,812,585 (GRCm39) T70A probably benign Het
Unc80 T C 1: 66,731,708 (GRCm39) L3053P probably damaging Het
Wars1 G T 12: 108,854,359 (GRCm39) N18K possibly damaging Het
Wnt8a A G 18: 34,677,937 (GRCm39) D115G probably damaging Het
Xndc1 T A 7: 101,722,398 (GRCm39) V21E probably damaging Het
Zfp493 T A 13: 67,934,388 (GRCm39) C114S probably damaging 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
IGL03008:Dab1 APN 4 104,584,777 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ATGGGATATAAATGGCTGTGGC -3'
(R):5'- ACAGGAGGCTGAAACTTCCC -3'

Sequencing Primer
(F):5'- GGATATAAATGGCTGTGGCTTATATG -3'
(R):5'- TGAAACTTCCCCCAGAGGATG -3'
Posted On 2014-08-25