Incidental Mutation 'R6249:Dab1'
ID 505833
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 # R6249 (G1)
Quality Score 225.009
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik A T 7: 115,702,505 (GRCm39) S90C probably damaging Het
Abca9 T C 11: 110,036,453 (GRCm39) D552G probably benign Het
Adgrb3 A G 1: 25,471,639 (GRCm39) L502P probably damaging Het
Agmo T C 12: 37,293,837 (GRCm39) probably null Het
Ank3 A G 10: 69,658,906 (GRCm39) probably null Het
Apol11b G T 15: 77,519,537 (GRCm39) T181K probably benign Het
Arap2 G T 5: 62,803,536 (GRCm39) H1244N probably damaging Het
Arid1b A T 17: 5,329,636 (GRCm39) M838L possibly damaging Het
Aste1 G A 9: 105,273,816 (GRCm39) V19I probably benign Het
B3gnt3 A T 8: 72,145,306 (GRCm39) M354K probably damaging Het
Calcr A T 6: 3,692,711 (GRCm39) M381K possibly damaging Het
Ccdc63 A C 5: 122,263,062 (GRCm39) L160W probably benign Het
Cerkl A G 2: 79,199,122 (GRCm39) L156P probably damaging Het
Csnk2a1-ps3 A G 1: 156,352,800 (GRCm39) M334V probably benign Het
Ddb1 C A 19: 10,583,084 (GRCm39) Y5* probably null Het
Fignl2 T C 15: 100,952,060 (GRCm39) E74G possibly damaging Het
Glb1l2 C T 9: 26,676,850 (GRCm39) probably benign Het
Gm16503 A G 4: 147,625,508 (GRCm39) M1V probably null Het
Gm2696 A C 10: 77,630,646 (GRCm39) probably benign Het
Gm45844 A G 7: 7,243,092 (GRCm39) S20P probably benign Het
Gm7579 C T 7: 141,765,743 (GRCm39) P50S unknown Het
Idh1 A G 1: 65,205,378 (GRCm39) S196P probably damaging Het
Il1rap T C 16: 26,511,598 (GRCm39) V214A possibly damaging Het
Kctd17 C G 15: 78,314,239 (GRCm39) probably null Het
Lama1 G T 17: 68,105,599 (GRCm39) V2036L probably benign Het
Lars1 G T 18: 42,390,271 (GRCm39) probably null Het
Mdn1 T A 4: 32,708,484 (GRCm39) V1670E possibly damaging Het
Mtmr7 A T 8: 41,034,524 (GRCm39) I266N probably damaging Het
Ncapd3 GGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTG 9: 26,999,349 (GRCm39) probably benign Het
Nckap5 T C 1: 125,952,667 (GRCm39) E1295G probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Or13p3 A G 4: 118,566,910 (GRCm39) Y102C probably damaging Het
Or2a5 G T 6: 42,874,238 (GRCm39) L284F probably damaging Het
Or2aj4 T A 16: 19,384,725 (GRCm39) N303Y probably damaging Het
Or51q1 A T 7: 103,628,818 (GRCm39) S140C possibly damaging Het
Or5h22 T C 16: 58,894,795 (GRCm39) Y216C probably damaging Het
Or8b44 T G 9: 38,410,880 (GRCm39) I305R unknown Het
Pcdha4 T A 18: 37,086,729 (GRCm39) V304E probably damaging Het
Pde6c T C 19: 38,147,008 (GRCm39) probably null Het
Pebp4 A T 14: 70,297,099 (GRCm39) T213S possibly damaging Het
Phf2 C A 13: 48,959,348 (GRCm39) R886L unknown Het
Pik3ca A T 3: 32,515,712 (GRCm39) H795L probably damaging Het
Pisd G T 5: 32,896,188 (GRCm39) T379N probably damaging Het
Pld2 T C 11: 70,446,196 (GRCm39) L732P probably damaging Het
Pskh1 A G 8: 106,639,617 (GRCm39) D99G possibly damaging Het
Rest A G 5: 77,429,071 (GRCm39) T497A probably benign Het
Rps24 C T 14: 24,543,530 (GRCm39) T108M possibly damaging Het
Rtel1 C T 2: 180,993,475 (GRCm39) R566C probably damaging Het
Scyl2 A G 10: 89,493,719 (GRCm39) S350P possibly damaging Het
Slc38a7 G T 8: 96,564,302 (GRCm39) probably null Het
Sox5 A G 6: 143,779,009 (GRCm39) I674T probably benign Het
Spata31f1a A T 4: 42,850,528 (GRCm39) W543R probably benign Het
Surf4 C A 2: 26,816,899 (GRCm39) E39D probably damaging Het
Tas2r144 T A 6: 42,192,291 (GRCm39) Y10* probably null Het
Thbs4 C T 13: 92,911,215 (GRCm39) G323R probably damaging Het
Top2b A G 14: 16,399,006 (GRCm38) Y542C probably damaging Het
Trim61 A G 8: 65,467,108 (GRCm39) V51A probably benign Het
Tyrp1 T A 4: 80,769,009 (GRCm39) I501N possibly damaging Het
U2surp C T 9: 95,382,869 (GRCm39) D32N probably benign Het
Ush1c T C 7: 45,864,383 (GRCm39) Y411C probably damaging Het
Vwa7 G A 17: 35,242,365 (GRCm39) V490I probably benign Het
Xylt1 G T 7: 117,266,528 (GRCm39) A849S probably benign Het
Ythdc1 T A 5: 86,979,815 (GRCm39) N599K possibly damaging Het
Zbtb38 T A 9: 96,568,045 (GRCm39) Y1013F probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zswim9 T C 7: 12,994,903 (GRCm39) S418G 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
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
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'- TTTACAGGAGGCTGAAACTTCC -3'

Sequencing Primer
(F):5'- GGATATAAATGGCTGTGGCTTATATG -3'
(R):5'- TGAAACTTCCCCCAGAGGATG -3'
Posted On 2018-02-28