Incidental Mutation 'R6817:Dab1'
ID 537369
Institutional Source Beutler Lab
Gene Symbol Dab1
Ensembl Gene ENSMUSG00000028519
Gene Name disabled 1
Synonyms C630028C02Rik
MMRRC Submission 044929-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R6817 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 103476556-104602041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104536743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 178 (K178E)
Ref Sequence ENSEMBL: ENSMUSP00000102440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106826] [ENSMUST00000106827] [ENSMUST00000106830] [ENSMUST00000143644] [ENSMUST00000146078]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000106826
AA Change: K158E

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102439
Gene: ENSMUSG00000028519
AA Change: K158E

DomainStartEndE-ValueType
PTB 17 151 3.51e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106827
AA Change: K178E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102440
Gene: ENSMUSG00000028519
AA Change: K178E

DomainStartEndE-ValueType
PTB 37 171 3.51e-36 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106830
AA Change: K178E

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519
AA Change: K178E

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: ENSMUST00000143644
SMART Domains Protein: ENSMUSP00000118650
Gene: ENSMUSG00000028519

DomainStartEndE-ValueType
PTB 37 160 5.54e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000146078
AA Change: K178E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125033
Gene: ENSMUSG00000028519
AA Change: K178E

DomainStartEndE-ValueType
PTB 37 171 3.51e-36 SMART
low complexity region 235 242 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000118532
Gene: ENSMUSG00000028519
AA Change: K156E

DomainStartEndE-ValueType
PTB 16 150 3.51e-36 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
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
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Arhgap21 A C 2: 20,885,107 (GRCm39) L690R probably benign Het
Asxl3 A G 18: 22,656,637 (GRCm39) N1549S probably benign Het
Cast T C 13: 74,847,277 (GRCm39) T670A possibly damaging Het
Cd109 A G 9: 78,622,237 (GRCm39) D1409G probably benign Het
Cemip A G 7: 83,637,200 (GRCm39) F311S probably damaging Het
Cfap43 T A 19: 47,744,524 (GRCm39) I1210F possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cops5 G A 1: 10,100,829 (GRCm39) L256F probably benign Het
Cux1 T C 5: 136,402,027 (GRCm39) probably null Het
Ddc A G 11: 11,774,854 (GRCm39) Y346H probably damaging Het
Dlg2 T G 7: 91,614,872 (GRCm39) D225E probably benign Het
Dsg1b A T 18: 20,527,462 (GRCm39) I198F probably damaging Het
Ect2l T C 10: 18,049,807 (GRCm39) H155R probably benign Het
Epha2 A G 4: 141,036,305 (GRCm39) H247R probably damaging Het
Esrp1 A G 4: 11,357,552 (GRCm39) V355A probably damaging Het
Fam78b A G 1: 166,906,419 (GRCm39) M193V possibly damaging Het
Gdpd4 A G 7: 97,607,037 (GRCm39) T4A probably benign Het
Gm17175 T C 14: 51,810,478 (GRCm39) N50D possibly damaging Het
Kcnt2 A G 1: 140,173,931 (GRCm39) probably benign Het
Lpo T C 11: 87,700,067 (GRCm39) N525D probably benign Het
Lrrc41 G A 4: 115,946,502 (GRCm39) E406K possibly damaging Het
Lrrc59 G C 11: 94,520,891 (GRCm39) D21H probably damaging Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Mroh7 C T 4: 106,571,312 (GRCm39) A14T probably benign Het
Muc5b T C 7: 141,416,650 (GRCm39) S3199P probably benign Het
Muc6 T A 7: 141,237,326 (GRCm39) Y270F probably damaging Het
Myo18b T A 5: 112,978,104 (GRCm39) T1273S probably benign Het
Nos2 A T 11: 78,836,092 (GRCm39) E385V possibly damaging Het
Nsl1 T G 1: 190,795,471 (GRCm39) probably null Het
Nup93 T C 8: 95,041,310 (GRCm39) probably null Het
Or5d45 A T 2: 88,153,107 (GRCm39) M314K probably benign Het
Pcna-ps2 T G 19: 9,260,861 (GRCm39) M40R probably damaging Het
Pik3r5 A G 11: 68,377,407 (GRCm39) E148G probably damaging Het
Pirt A G 11: 66,816,737 (GRCm39) E16G probably damaging Het
Pkp4 T C 2: 59,148,944 (GRCm39) Y566H probably damaging Het
Psg17 A C 7: 18,548,565 (GRCm39) V402G probably damaging Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Rassf7 A G 7: 140,797,360 (GRCm39) E191G probably damaging Het
Rnf213 T C 11: 119,353,111 (GRCm39) probably null Het
Slc34a2 C T 5: 53,221,370 (GRCm39) T272I probably damaging Het
Sos2 T C 12: 69,664,935 (GRCm39) E332G probably benign Het
Spdye4c T C 2: 128,438,430 (GRCm39) Y263H probably damaging Het
Tmprss11f C T 5: 86,704,793 (GRCm39) V42I probably benign Het
Trpv5 T A 6: 41,634,941 (GRCm39) N463Y possibly damaging Het
Ush2a A T 1: 188,595,061 (GRCm39) Q3831L probably benign Het
Wdr41 C A 13: 95,133,812 (GRCm39) probably null Het
Zfand1 A G 3: 10,405,884 (GRCm39) C246R 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
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'- GAACTTTAGCCTAGAAGCAATTTGC -3'
(R):5'- TGGGTGTCTGAAATCTACCCAG -3'

Sequencing Primer
(F):5'- TTCAGTTTAATAGAAAAGGGAAGGGC -3'
(R):5'- GGTGTCTGAAATCTACCCAGGATCC -3'
Posted On 2018-10-18