Incidental Mutation 'R7894:Dab1'
ID 609506
Institutional Source Beutler Lab
Gene Symbol Dab1
Ensembl Gene ENSMUSG00000028519
Gene Name disabled 1
Synonyms C630028C02Rik
MMRRC Submission 045946-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R7894 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 103476556-104602041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104589335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 547 (D547E)
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: D547E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519
AA Change: D547E

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 0.0719 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,997,415 (GRCm39) M1551T possibly damaging Het
Abcc9 A G 6: 142,539,733 (GRCm39) *1547Q probably null Het
Adamts20 A C 15: 94,249,641 (GRCm39) C459G probably damaging Het
Adamts5 C T 16: 85,674,808 (GRCm39) W452* probably null Het
Adcy8 G T 15: 64,792,054 (GRCm39) Q301K possibly damaging Het
Adgrv1 A C 13: 81,715,570 (GRCm39) C873G probably benign Het
Ak9 A G 10: 41,296,535 (GRCm39) D1427G unknown Het
Amy2a1 T A 3: 113,324,190 (GRCm39) M117L possibly damaging Het
Ap5z1 G T 5: 142,452,039 (GRCm39) R23L probably benign Het
Ap5z1 C T 5: 142,456,191 (GRCm39) Q337* probably null Het
Astn1 C A 1: 158,429,508 (GRCm39) Q759K probably damaging Het
Cd276 T A 9: 58,444,762 (GRCm39) T70S possibly damaging Het
Cd38 C T 5: 44,057,746 (GRCm39) T106I probably damaging Het
Cdon C G 9: 35,388,244 (GRCm39) R740G probably damaging Het
Clk2 C T 3: 89,076,201 (GRCm39) R124W possibly damaging Het
Cyp1b1 C T 17: 80,021,644 (GRCm39) V33M possibly damaging Het
Degs1 A T 1: 182,104,416 (GRCm39) Y290N probably damaging Het
Degs1 G C 1: 182,104,417 (GRCm39) H289Q probably benign Het
Dop1b T A 16: 93,607,092 (GRCm39) C2249S probably benign Het
Ecpas T C 4: 58,853,708 (GRCm39) N361S probably damaging Het
Ehd4 A C 2: 119,932,909 (GRCm39) Y172* probably null Het
Erc2 A G 14: 27,499,165 (GRCm39) D347G probably damaging Het
Espl1 T G 15: 102,212,460 (GRCm39) V522G probably damaging Het
Fabp9 T A 3: 10,262,227 (GRCm39) T10S probably benign Het
Fam193a T C 5: 34,597,877 (GRCm39) I558T possibly damaging Het
Fhod1 T C 8: 106,057,789 (GRCm39) E912G probably damaging Het
Gja1 T C 10: 56,264,645 (GRCm39) F335L possibly damaging Het
Gm29106 A G 1: 118,127,265 (GRCm39) H319R probably damaging Het
Hunk C T 16: 90,269,353 (GRCm39) S299F probably damaging Het
Hydin C T 8: 111,239,642 (GRCm39) T1974M possibly damaging Het
Ighv10-1 T A 12: 114,442,650 (GRCm39) T112S probably damaging Het
Ireb2 T A 9: 54,789,620 (GRCm39) V98E probably damaging Het
Irf4 A C 13: 30,937,435 (GRCm39) H167P probably benign Het
Irf6 C T 1: 192,845,021 (GRCm39) P164L probably benign Het
Josd1 A G 15: 79,561,451 (GRCm39) I119T probably damaging Het
Kcna5 G T 6: 126,512,011 (GRCm39) T39K probably damaging Het
Klhl24 A G 16: 19,941,750 (GRCm39) D566G probably damaging Het
Kmt2a T A 9: 44,761,154 (GRCm39) K232* probably null Het
Krt36 A G 11: 99,996,061 (GRCm39) L121P probably damaging Het
Lama3 A T 18: 12,595,864 (GRCm39) H931L probably benign Het
Lamp3 A T 16: 19,474,141 (GRCm39) I411N probably damaging Het
Lingo3 C T 10: 80,670,610 (GRCm39) W440* probably null Het
Mia2 T C 12: 59,236,433 (GRCm39) Y712H probably damaging Het
Mlh1 T A 9: 111,059,145 (GRCm39) probably null Het
Mta3 T A 17: 84,070,363 (GRCm39) S174T probably benign Het
Myo15a A G 11: 60,381,963 (GRCm39) T347A Het
Naaladl2 C T 3: 23,900,718 (GRCm39) R704H possibly damaging Het
Nfib T C 4: 82,246,030 (GRCm39) N394S probably benign Het
Nr2f2 A G 7: 70,009,681 (GRCm39) Y133H probably damaging Het
Or2ak7 C T 11: 58,575,500 (GRCm39) S267F possibly damaging Het
Or2i1 C T 17: 37,508,047 (GRCm39) E196K probably damaging Het
Or4c115 A G 2: 88,927,932 (GRCm39) V113A possibly damaging Het
Or4f61 A T 2: 111,922,822 (GRCm39) C75S probably benign Het
Or5p62 T A 7: 107,771,391 (GRCm39) M187L probably benign Het
Phgdh C A 3: 98,247,124 (GRCm39) V9L probably damaging Het
Pkd2 T A 5: 104,628,103 (GRCm39) D392E probably damaging Het
Plekhm3 A G 1: 64,960,874 (GRCm39) S461P probably benign Het
Prss39 A G 1: 34,539,308 (GRCm39) T183A probably benign Het
Pter T A 2: 12,999,566 (GRCm39) I235K probably damaging Het
Ptp4a3 T C 15: 73,628,756 (GRCm39) V172A probably benign Het
Rasa2 T C 9: 96,484,780 (GRCm39) N145D probably benign Het
Rasal2 A T 1: 157,071,218 (GRCm39) H45Q probably benign Het
Rbm43 A G 2: 51,815,909 (GRCm39) V104A probably damaging Het
Rhbdd2 C A 5: 135,667,969 (GRCm39) probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rimbp2 T A 5: 128,838,528 (GRCm39) N1023I probably damaging Het
Rtl1 A T 12: 109,561,031 (GRCm39) D269E possibly damaging Het
Sbp A G 17: 24,161,163 (GRCm39) probably benign Het
Sorbs1 T A 19: 40,316,020 (GRCm39) T374S probably benign Het
Tgs1 A T 4: 3,598,652 (GRCm39) K655I probably benign Het
Thsd1 A C 8: 22,749,585 (GRCm39) T819P probably damaging Het
Tmprss11c C T 5: 86,379,655 (GRCm39) V418M probably damaging Het
Top2a A T 11: 98,900,431 (GRCm39) D645E probably damaging Het
Top2b G A 14: 16,413,081 (GRCm38) V997I possibly damaging Het
Ttc34 A G 4: 154,943,840 (GRCm39) D118G probably damaging Het
Ttll5 A G 12: 85,935,948 (GRCm39) D353G probably damaging Het
Uba6 A T 5: 86,265,924 (GRCm39) Y994* probably null Het
Vinac1 A C 2: 128,879,049 (GRCm39) V959G unknown Het
Vmn1r189 A T 13: 22,285,906 (GRCm39) Y310* probably null Het
Vps13c T A 9: 67,834,265 (GRCm39) I1644N probably damaging Het
Zfp811 T C 17: 33,017,821 (GRCm39) D73G possibly damaging Het
Zfp951 A T 5: 104,962,838 (GRCm39) C243S probably benign 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
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
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'- TTAGGAGCTCTCGCATCTGG -3'
(R):5'- GCATTAGGAGCAATCACAGAC -3'

Sequencing Primer
(F):5'- CAGCCTCCTGTAAAATAACTGGTTGC -3'
(R):5'- CTTGCAGGTGAAGGAGAT -3'
Posted On 2019-12-20