Incidental Mutation 'R5173:Dab1'
ID 398877
Institutional Source Beutler Lab
Gene Symbol Dab1
Ensembl Gene ENSMUSG00000028519
Gene Name disabled 1
Synonyms C630028C02Rik
MMRRC Submission 042753-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R5173 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 103476556-104602041 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 104545645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000106830] [ENSMUST00000146078]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000106830
SMART Domains Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519

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
Predicted Effect probably null
Transcript: ENSMUST00000149672
SMART Domains Protein: ENSMUSP00000118532
Gene: ENSMUSG00000028519

DomainStartEndE-ValueType
PTB 16 150 3.51e-36 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (50/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 AC A 11: 9,632,032 (GRCm39) probably null Het
Abca6 A T 11: 110,082,546 (GRCm39) F1142L probably benign Het
Ap1g1 T A 8: 110,577,764 (GRCm39) probably null Het
Apob T C 12: 8,058,238 (GRCm39) V2207A probably benign Het
Cenpp CAAACCTGAAAA CAAA 13: 49,618,258 (GRCm39) probably null Het
Chd3 A G 11: 69,260,069 (GRCm39) probably benign Het
Coch C A 12: 51,643,290 (GRCm39) Y103* probably null Het
Cul3 A T 1: 80,259,133 (GRCm39) D382E possibly damaging Het
Cul5 T C 9: 53,554,034 (GRCm39) T291A probably benign Het
Dmtf1 A G 5: 9,190,356 (GRCm39) probably benign Het
Dpp4 T C 2: 62,217,474 (GRCm39) Y41C probably damaging Het
Eif2ak4 A G 2: 118,238,841 (GRCm39) I45M probably damaging Het
Epn3 T C 11: 94,386,923 (GRCm39) K149R probably damaging Het
Flnc A G 6: 29,455,537 (GRCm39) E2029G probably damaging Het
Gm5799 A G 14: 43,782,116 (GRCm39) N96S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Grik5 T C 7: 24,762,319 (GRCm39) H224R possibly damaging Het
Lpar6 A T 14: 73,476,537 (GRCm39) E166V probably benign Het
Mical1 T C 10: 41,360,985 (GRCm39) L683P probably damaging Het
Mis18bp1 T C 12: 65,196,149 (GRCm39) I538M possibly damaging Het
Mobp A G 9: 119,997,311 (GRCm39) R77G possibly damaging Het
Muc21 G T 17: 35,931,633 (GRCm39) probably benign Het
Mylk A G 16: 34,797,383 (GRCm39) H1614R probably benign Het
Or2y16 T C 11: 49,334,713 (GRCm39) F12L probably benign Het
Or4p18 G A 2: 88,233,266 (GRCm39) T4I probably benign Het
Or7c19 T C 8: 85,957,205 (GRCm39) L27P probably damaging Het
Osbpl1a C T 18: 12,895,697 (GRCm39) V390I probably benign Het
Pcdha7 C A 18: 37,107,705 (GRCm39) D243E probably benign Het
Pi4ka A T 16: 17,168,770 (GRCm39) N653K possibly damaging Het
Plin5 T G 17: 56,422,548 (GRCm39) probably null Het
Plod1 A G 4: 148,000,758 (GRCm39) probably benign Het
Psd3 T C 8: 68,149,641 (GRCm39) K372E probably damaging Het
Psmd11 C T 11: 80,351,566 (GRCm39) T263I probably benign Het
Ptprt A T 2: 161,769,676 (GRCm39) N396K probably benign Het
Rab39 T C 9: 53,597,800 (GRCm39) E155G probably damaging Het
Rimbp2 T C 5: 128,874,712 (GRCm39) D293G probably benign Het
Rnf220 T C 4: 117,146,471 (GRCm39) probably benign Het
Rnmt C T 18: 68,454,430 (GRCm39) probably benign Het
Slc10a1 T A 12: 81,002,802 (GRCm39) I279F probably damaging Het
Sp140l1 G A 1: 85,078,288 (GRCm39) R54* probably null Het
Taar6 A G 10: 23,861,250 (GRCm39) Y99H probably damaging Het
Tas2r144 T A 6: 42,193,048 (GRCm39) F263I probably benign Het
Tex15 T A 8: 34,061,768 (GRCm39) N399K possibly damaging Het
Tlr9 T A 9: 106,103,151 (GRCm39) V814D possibly damaging Het
Tmem53 T A 4: 117,122,908 (GRCm39) probably benign Het
Ubap2l T C 3: 89,928,337 (GRCm39) I511V possibly damaging Het
Vmn2r60 T C 7: 41,844,935 (GRCm39) M766T probably damaging Het
Zfp462 T C 4: 55,011,115 (GRCm39) V1027A 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
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'- TGAGTTGAAAGTGGAGCACC -3'
(R):5'- TCTCTACTCACAGGAACAAGAGG -3'

Sequencing Primer
(F):5'- GGAATCTATGAGTTCACCGCC -3'
(R):5'- GGAACAGTCCTTTGTCCCGATTG -3'
Posted On 2016-07-06