Incidental Mutation 'IGL03008:Dab1'
ID |
407642 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dab1
|
Ensembl Gene |
ENSMUSG00000028519 |
Gene Name |
disabled 1 |
Synonyms |
C630028C02Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.877)
|
Stock # |
IGL03008
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
103476556-104602041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 104584777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 306
(V306F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106830]
[ENSMUST00000146078]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106830
AA Change: V306F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102443 Gene: ENSMUSG00000028519 AA Change: V306F
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 |
|
Coding Region Coverage |
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
Ankrd34c |
C |
T |
9: 89,612,337 (GRCm39) |
M1I |
probably null |
Het |
Ankrd44 |
T |
C |
1: 54,805,968 (GRCm39) |
H146R |
probably damaging |
Het |
Bst1 |
A |
G |
5: 43,983,604 (GRCm39) |
|
probably null |
Het |
Btbd8 |
T |
G |
5: 107,639,464 (GRCm39) |
|
probably null |
Het |
Cdh12 |
A |
T |
15: 21,480,416 (GRCm39) |
I211F |
probably damaging |
Het |
Cenpj |
G |
T |
14: 56,764,406 (GRCm39) |
D1335E |
probably benign |
Het |
Clpx |
G |
A |
9: 65,230,057 (GRCm39) |
V502I |
possibly damaging |
Het |
Cntnap4 |
T |
C |
8: 113,500,222 (GRCm39) |
S505P |
probably benign |
Het |
Cog2 |
T |
C |
8: 125,262,131 (GRCm39) |
|
probably benign |
Het |
Cped1 |
A |
G |
6: 22,233,601 (GRCm39) |
Q819R |
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,805,759 (GRCm39) |
E2190G |
possibly damaging |
Het |
Ctsa |
G |
A |
2: 164,679,368 (GRCm39) |
R359Q |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,813,623 (GRCm39) |
|
probably benign |
Het |
Dysf |
A |
G |
6: 84,050,876 (GRCm39) |
I438V |
probably benign |
Het |
Eif4g3 |
G |
T |
4: 137,847,699 (GRCm39) |
G380W |
probably damaging |
Het |
Exd1 |
T |
A |
2: 119,350,862 (GRCm39) |
K466N |
probably benign |
Het |
Eya3 |
A |
C |
4: 132,434,294 (GRCm39) |
D325A |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,195,445 (GRCm39) |
T382A |
unknown |
Het |
Fry |
T |
A |
5: 150,269,021 (GRCm39) |
D106E |
possibly damaging |
Het |
Gm21957 |
T |
A |
7: 124,818,733 (GRCm39) |
|
noncoding transcript |
Het |
Gm44511 |
A |
G |
6: 128,761,059 (GRCm39) |
|
probably benign |
Het |
Itga4 |
A |
G |
2: 79,155,982 (GRCm39) |
I983V |
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,058,675 (GRCm39) |
D5E |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,511,293 (GRCm39) |
E225G |
unknown |
Het |
Ltbp4 |
G |
T |
7: 27,023,789 (GRCm39) |
N747K |
probably damaging |
Het |
Minar1 |
A |
G |
9: 89,478,731 (GRCm39) |
Y772H |
probably damaging |
Het |
Mlh3 |
T |
C |
12: 85,287,625 (GRCm39) |
Q1308R |
probably benign |
Het |
Mtfr2 |
T |
A |
10: 20,229,185 (GRCm39) |
C63S |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,022,617 (GRCm39) |
M1661L |
probably benign |
Het |
Myo1c |
T |
C |
11: 75,549,240 (GRCm39) |
M137T |
probably benign |
Het |
Myocd |
A |
C |
11: 65,078,392 (GRCm39) |
L340V |
probably damaging |
Het |
Napsa |
A |
T |
7: 44,235,220 (GRCm39) |
Q335L |
possibly damaging |
Het |
Nlrp4b |
C |
A |
7: 10,448,516 (GRCm39) |
Q240K |
probably benign |
Het |
Npepps |
A |
C |
11: 97,128,984 (GRCm39) |
F400C |
probably damaging |
Het |
Nxpe4 |
A |
T |
9: 48,304,738 (GRCm39) |
E275V |
probably benign |
Het |
Ofd1 |
T |
C |
X: 165,192,530 (GRCm39) |
D501G |
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,903,445 (GRCm39) |
Y278H |
probably damaging |
Het |
Or4f6 |
A |
G |
2: 111,838,868 (GRCm39) |
I221T |
possibly damaging |
Het |
Or5p79 |
T |
G |
7: 108,221,490 (GRCm39) |
L157R |
probably damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,678 (GRCm39) |
M136K |
probably damaging |
Het |
P2ry1 |
A |
T |
3: 60,910,947 (GRCm39) |
T29S |
probably benign |
Het |
Papss1 |
T |
C |
3: 131,290,860 (GRCm39) |
V201A |
possibly damaging |
Het |
Paxip1 |
A |
G |
5: 27,957,764 (GRCm39) |
V864A |
probably benign |
Het |
Pcdhgc5 |
T |
A |
18: 37,954,887 (GRCm39) |
H720Q |
probably benign |
Het |
Pdxdc1 |
T |
C |
16: 13,694,023 (GRCm39) |
N133S |
possibly damaging |
Het |
Prkar1a |
T |
C |
11: 109,544,690 (GRCm39) |
I27T |
probably damaging |
Het |
Rnf10 |
G |
T |
5: 115,389,355 (GRCm39) |
H271N |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,392,855 (GRCm39) |
S246P |
probably damaging |
Het |
Sertad2 |
G |
T |
11: 20,597,798 (GRCm39) |
|
probably benign |
Het |
Slc22a27 |
A |
G |
19: 7,887,067 (GRCm39) |
I274T |
possibly damaging |
Het |
Slc22a5 |
A |
T |
11: 53,782,058 (GRCm39) |
V103E |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,748,138 (GRCm39) |
F225I |
probably benign |
Het |
Slc6a3 |
G |
A |
13: 73,706,404 (GRCm39) |
|
probably null |
Het |
Smcr8 |
A |
G |
11: 60,669,287 (GRCm39) |
E145G |
probably damaging |
Het |
Spen |
A |
T |
4: 141,203,448 (GRCm39) |
D1726E |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Stag1 |
A |
T |
9: 100,658,844 (GRCm39) |
N144Y |
probably damaging |
Het |
Strada |
T |
C |
11: 106,061,783 (GRCm39) |
H156R |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tas2r138 |
A |
C |
6: 40,590,116 (GRCm39) |
D43E |
probably damaging |
Het |
Tdpoz3 |
A |
T |
3: 93,733,642 (GRCm39) |
K106* |
probably null |
Het |
Trbv13-1 |
A |
G |
6: 41,093,229 (GRCm39) |
D54G |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,165,932 (GRCm39) |
V218A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,611,203 (GRCm39) |
T15697I |
probably damaging |
Het |
Ugt2b38 |
G |
A |
5: 87,560,282 (GRCm39) |
T344I |
probably benign |
Het |
Vmn2r94 |
T |
C |
17: 18,477,908 (GRCm39) |
M168V |
probably benign |
Het |
Wdr11 |
T |
C |
7: 129,208,715 (GRCm39) |
|
probably benign |
Het |
Wipf2 |
T |
C |
11: 98,783,554 (GRCm39) |
|
probably benign |
Het |
Zranb2 |
T |
A |
3: 157,252,302 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |