Incidental Mutation 'R6259:Dab1'
ID |
506538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab1
|
Ensembl Gene |
ENSMUSG00000028519 |
Gene Name |
disabled 1 |
Synonyms |
C630028C02Rik |
MMRRC Submission |
044376-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.877)
|
Stock # |
R6259 (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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
PTB
|
37 |
171 |
3.51e-36 |
SMART |
low complexity region
|
235 |
242 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2232 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
C |
A |
12: 18,584,120 (GRCm39) |
N393K |
probably benign |
Het |
Acap3 |
A |
T |
4: 155,980,575 (GRCm39) |
I19F |
possibly damaging |
Het |
Acsbg3 |
A |
G |
17: 57,184,513 (GRCm39) |
Y96C |
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,696,641 (GRCm39) |
R172H |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,156,483 (GRCm39) |
F416L |
possibly damaging |
Het |
Amy1 |
T |
C |
3: 113,363,059 (GRCm39) |
D96G |
possibly damaging |
Het |
Ank2 |
A |
G |
3: 126,810,635 (GRCm39) |
S484P |
probably benign |
Het |
Arsa |
A |
G |
15: 89,359,724 (GRCm39) |
C68R |
probably damaging |
Het |
Asprv1 |
A |
G |
6: 86,605,361 (GRCm39) |
Y69C |
probably benign |
Het |
Ass1 |
A |
G |
2: 31,378,654 (GRCm39) |
E162G |
possibly damaging |
Het |
Atf7 |
G |
T |
15: 102,455,673 (GRCm39) |
N230K |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,092,065 (GRCm39) |
M367V |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,861,050 (GRCm39) |
Y179C |
probably damaging |
Het |
BC004004 |
A |
T |
17: 29,517,686 (GRCm39) |
Q300L |
possibly damaging |
Het |
Bglap3 |
A |
T |
3: 88,276,067 (GRCm39) |
I95N |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,616,630 (GRCm39) |
|
probably null |
Het |
Caskin2 |
C |
T |
11: 115,691,279 (GRCm39) |
G1141D |
probably damaging |
Het |
Clcn4 |
G |
A |
7: 7,294,529 (GRCm39) |
R351W |
possibly damaging |
Het |
Col11a1 |
T |
C |
3: 113,932,096 (GRCm39) |
C89R |
probably benign |
Het |
Csrp1 |
T |
G |
1: 135,667,252 (GRCm39) |
|
probably null |
Het |
Cwf19l2 |
T |
C |
9: 3,458,879 (GRCm39) |
I776T |
probably damaging |
Het |
Cyp2b19 |
A |
T |
7: 26,470,817 (GRCm39) |
Q486L |
possibly damaging |
Het |
Cyp2j9 |
T |
A |
4: 96,472,243 (GRCm39) |
Y165F |
probably benign |
Het |
Dennd1c |
G |
A |
17: 57,374,104 (GRCm39) |
R522C |
probably damaging |
Het |
Dmgdh |
T |
C |
13: 93,888,816 (GRCm39) |
V818A |
probably benign |
Het |
Dst |
T |
A |
1: 34,221,477 (GRCm39) |
V2427E |
probably benign |
Het |
Duox1 |
C |
T |
2: 122,175,264 (GRCm39) |
T1354M |
probably benign |
Het |
Ehbp1 |
A |
G |
11: 22,235,684 (GRCm39) |
|
probably benign |
Het |
Epc2 |
T |
A |
2: 49,378,866 (GRCm39) |
|
probably null |
Het |
Eya2 |
T |
C |
2: 165,558,019 (GRCm39) |
V205A |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,061,395 (GRCm39) |
H4326R |
probably benign |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
Hhip |
T |
A |
8: 80,699,033 (GRCm39) |
R678W |
probably damaging |
Het |
Il21r |
T |
A |
7: 125,229,891 (GRCm39) |
I266K |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,744,970 (GRCm39) |
S1689P |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,566,128 (GRCm39) |
E317G |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lratd1 |
T |
A |
12: 14,200,646 (GRCm39) |
D27V |
probably damaging |
Het |
Lrr1 |
A |
G |
12: 69,221,589 (GRCm39) |
N244D |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,586,450 (GRCm39) |
H422L |
probably benign |
Het |
Map4k5 |
A |
G |
12: 69,899,514 (GRCm39) |
S46P |
probably damaging |
Het |
Ngf |
A |
G |
3: 102,417,113 (GRCm39) |
|
probably benign |
Het |
Nploc4 |
T |
C |
11: 120,276,691 (GRCm39) |
I452V |
probably benign |
Het |
Oas1d |
T |
A |
5: 121,057,244 (GRCm39) |
Y283* |
probably null |
Het |
Or52h1 |
A |
T |
7: 103,829,261 (GRCm39) |
M118K |
possibly damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,264 (GRCm39) |
I18F |
probably benign |
Het |
Or5b109 |
A |
G |
19: 13,211,785 (GRCm39) |
H57R |
probably damaging |
Het |
Or5l13 |
T |
C |
2: 87,779,779 (GRCm39) |
N266S |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Peg3 |
A |
G |
7: 6,712,810 (GRCm39) |
V804A |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,250,749 (GRCm39) |
Y450F |
possibly damaging |
Het |
Pprc1 |
T |
A |
19: 46,052,849 (GRCm39) |
V789E |
probably damaging |
Het |
Prcc |
A |
G |
3: 87,769,454 (GRCm39) |
M436T |
possibly damaging |
Het |
Prepl |
A |
T |
17: 85,377,859 (GRCm39) |
V507D |
probably damaging |
Het |
Rag1 |
T |
A |
2: 101,474,797 (GRCm39) |
N115I |
possibly damaging |
Het |
Rap1gap |
T |
C |
4: 137,409,068 (GRCm39) |
|
probably null |
Het |
Reln |
A |
C |
5: 22,265,331 (GRCm39) |
F454V |
probably damaging |
Het |
Slc39a11 |
A |
T |
11: 113,354,780 (GRCm39) |
S150T |
probably benign |
Het |
Slc45a1 |
T |
A |
4: 150,722,817 (GRCm39) |
I356F |
possibly damaging |
Het |
Snrnp200 |
G |
A |
2: 127,060,343 (GRCm39) |
G529D |
possibly damaging |
Het |
Stkld1 |
A |
T |
2: 26,839,393 (GRCm39) |
D353V |
possibly damaging |
Het |
Susd2 |
T |
C |
10: 75,473,880 (GRCm39) |
S572G |
probably damaging |
Het |
Synrg |
T |
A |
11: 83,899,484 (GRCm39) |
D563E |
probably damaging |
Het |
Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
Tnfrsf8 |
A |
G |
4: 145,004,094 (GRCm39) |
|
probably null |
Het |
Trim26 |
C |
T |
17: 37,167,110 (GRCm39) |
A267V |
probably benign |
Het |
Trpm1 |
T |
G |
7: 63,918,226 (GRCm39) |
F522C |
possibly damaging |
Het |
Uggt1 |
T |
C |
1: 36,273,997 (GRCm39) |
I29V |
probably benign |
Het |
Unc5d |
C |
T |
8: 29,156,820 (GRCm39) |
M808I |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,683,371 (GRCm39) |
D611V |
possibly damaging |
Het |
Vps13a |
A |
C |
19: 16,664,534 (GRCm39) |
Y1436* |
probably null |
Het |
Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
Zfp518a |
G |
T |
19: 40,901,225 (GRCm39) |
V385F |
probably benign |
Het |
Zfp541 |
C |
T |
7: 15,829,451 (GRCm39) |
A1222V |
probably benign |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dab1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TTACAGGAGGCTGAAACTTCCC -3'
Sequencing Primer
(F):5'- GGATATAAATGGCTGTGGCTTATATG -3'
(R):5'- TGAAACTTCCCCCAGAGGATG -3'
|
Posted On |
2018-03-15 |