Incidental Mutation 'R6258:Dab1'
ID 506461
Institutional Source Beutler Lab
Gene Symbol Dab1
Ensembl Gene ENSMUSG00000028519
Gene Name disabled 1
Synonyms C630028C02Rik
MMRRC Submission 044375-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R6258 (G1)
Quality Score 225.009
Status 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: 95.7%
Validation Efficiency 99% (74/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Alms1 A T 6: 85,605,717 (GRCm39) K2456* probably null Het
Alppl2 A T 1: 87,016,184 (GRCm39) M225K probably damaging Het
AU041133 A G 10: 81,986,992 (GRCm39) E215G probably damaging Het
Carmil3 T A 14: 55,737,889 (GRCm39) L815Q probably damaging Het
Casr A G 16: 36,337,971 (GRCm39) C60R probably damaging Het
Cdc7 A G 5: 107,117,093 (GRCm39) K84E probably damaging Het
Cdc73 G A 1: 143,567,211 (GRCm39) T104I probably benign Het
Clcc1 G A 3: 108,580,624 (GRCm39) V313I possibly damaging Het
Cntn3 A G 6: 102,254,178 (GRCm39) probably null Het
Crocc2 A G 1: 93,141,360 (GRCm39) K1171R possibly damaging Het
Ctsa T C 2: 164,676,281 (GRCm39) V86A probably damaging Het
Cyp2s1 ACAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAG 7: 25,515,867 (GRCm39) probably benign Het
Dnah17 C A 11: 118,017,148 (GRCm39) W197C probably damaging Het
Dnah17 A T 11: 118,017,150 (GRCm39) W197R probably damaging Het
Dnah17 C T 11: 118,017,149 (GRCm39) W197* probably null Het
Egflam T A 15: 7,263,773 (GRCm39) T726S probably damaging Het
Eml2 T G 7: 18,913,289 (GRCm39) probably null Het
Ercc6 T A 14: 32,279,813 (GRCm39) D609E probably benign Het
Erg C A 16: 95,181,100 (GRCm39) R147L probably damaging Het
Faiml T C 9: 99,114,513 (GRCm39) I125M possibly damaging Het
Fbxo41 A T 6: 85,455,537 (GRCm39) L549H probably damaging Het
Fbxw2 A T 2: 34,702,825 (GRCm39) probably null Het
Fgd6 T A 10: 93,880,161 (GRCm39) N338K probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm32742 T A 9: 51,068,862 (GRCm39) I200F probably damaging Het
Gm4924 T G 10: 82,213,307 (GRCm39) probably benign Het
Gm8369 G A 19: 11,488,973 (GRCm39) A87T possibly damaging Het
H2-M10.1 T A 17: 36,634,994 (GRCm39) I304F unknown Het
Ighv5-8 A G 12: 113,618,611 (GRCm39) T9A possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jakmip1 G T 5: 37,299,104 (GRCm39) E775* probably null Het
Klhl40 T C 9: 121,607,026 (GRCm39) F62S probably damaging Het
Krtcap3 A T 5: 31,409,572 (GRCm39) R84W probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lins1 T C 7: 66,360,496 (GRCm39) probably null Het
Magi3 A G 3: 103,996,912 (GRCm39) L211P probably damaging Het
Map2k5 T A 9: 63,124,647 (GRCm39) I359F probably benign Het
Map4k5 C A 12: 69,878,336 (GRCm39) R355L probably benign Het
Mef2c T A 13: 83,801,057 (GRCm39) D252E probably damaging Het
Methig1 T C 15: 100,251,422 (GRCm39) V111A possibly damaging Het
Mical3 A T 6: 120,985,991 (GRCm39) L150Q probably damaging Het
Nf1 A T 11: 79,456,581 (GRCm39) probably null Het
Nisch T A 14: 30,899,085 (GRCm39) probably benign Het
Or4f15 C T 2: 111,814,396 (GRCm39) V8I probably benign Het
Or5p61 T C 7: 107,758,181 (GRCm39) N300D probably damaging Het
Pcdhb12 T C 18: 37,569,892 (GRCm39) V346A probably benign Het
Pde7b T C 10: 20,316,546 (GRCm39) D168G possibly damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Pla2g4a A G 1: 149,733,238 (GRCm39) S504P probably benign Het
Plin2 G T 4: 86,575,526 (GRCm39) A341D probably damaging Het
Psma8 A G 18: 14,854,324 (GRCm39) D68G probably damaging Het
Rcor3 G A 1: 191,808,559 (GRCm39) H207Y probably benign Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Ryr3 A G 2: 112,490,449 (GRCm39) F3795S probably damaging Het
Samm50 C G 15: 84,084,512 (GRCm39) P150A probably damaging Het
Samm50 C A 15: 84,084,513 (GRCm39) P150H probably damaging Het
Slc28a2b A T 2: 122,353,963 (GRCm39) I530F probably damaging Het
Slc6a18 A T 13: 73,818,164 (GRCm39) C284* probably null Het
Smc3 T A 19: 53,616,162 (GRCm39) probably null Het
Snrnp200 G A 2: 127,060,343 (GRCm39) G529D possibly damaging Het
Sord T A 2: 122,089,613 (GRCm39) probably null Het
Spdl1 T A 11: 34,710,713 (GRCm39) N345I probably damaging Het
Sucnr1 T C 3: 59,993,778 (GRCm39) L102P probably damaging Het
Tbc1d9 T C 8: 83,937,145 (GRCm39) W76R probably damaging Het
Tcerg1 T A 18: 42,686,530 (GRCm39) Y696N probably damaging Het
Thsd7b A G 1: 129,595,655 (GRCm39) T492A probably benign Het
Trdmt1 T A 2: 13,524,870 (GRCm39) Q195L probably benign Het
Ubr3 A G 2: 69,813,208 (GRCm39) probably null Het
Ung A T 5: 114,275,361 (GRCm39) Y250F probably benign Het
Vezf1 A G 11: 87,972,326 (GRCm39) N229S probably damaging Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Wdr97 C A 15: 76,239,895 (GRCm39) S277* probably null Het
Zfp1007 T C 5: 109,824,433 (GRCm39) H339R probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zscan4-ps1 C A 7: 10,799,829 (GRCm39) E353D 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
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'- ATTTTACAGGAGGCTGAAACTTCC -3'

Sequencing Primer
(F):5'- GGATATAAATGGCTGTGGCTTATATG -3'
(R):5'- TGAAACTTCCCCCAGAGGATG -3'
Posted On 2018-03-15