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)
|
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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |