Incidental Mutation 'R6258:Dab1'
ID |
506461 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab1
|
Ensembl Gene |
ENSMUSG00000028519 |
Gene Name |
disabled 1 |
Synonyms |
C630028C02Rik |
MMRRC Submission |
044375-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R6258 (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: 95.7%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
T |
6: 85,605,717 (GRCm39) |
K2456* |
probably null |
Het |
Alppl2 |
A |
T |
1: 87,016,184 (GRCm39) |
M225K |
probably damaging |
Het |
AU041133 |
A |
G |
10: 81,986,992 (GRCm39) |
E215G |
probably damaging |
Het |
Carmil3 |
T |
A |
14: 55,737,889 (GRCm39) |
L815Q |
probably damaging |
Het |
Casr |
A |
G |
16: 36,337,971 (GRCm39) |
C60R |
probably damaging |
Het |
Cdc7 |
A |
G |
5: 107,117,093 (GRCm39) |
K84E |
probably damaging |
Het |
Cdc73 |
G |
A |
1: 143,567,211 (GRCm39) |
T104I |
probably benign |
Het |
Clcc1 |
G |
A |
3: 108,580,624 (GRCm39) |
V313I |
possibly damaging |
Het |
Cntn3 |
A |
G |
6: 102,254,178 (GRCm39) |
|
probably null |
Het |
Crocc2 |
A |
G |
1: 93,141,360 (GRCm39) |
K1171R |
possibly damaging |
Het |
Ctsa |
T |
C |
2: 164,676,281 (GRCm39) |
V86A |
probably damaging |
Het |
Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
C |
A |
11: 118,017,148 (GRCm39) |
W197C |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 118,017,150 (GRCm39) |
W197R |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 118,017,149 (GRCm39) |
W197* |
probably null |
Het |
Egflam |
T |
A |
15: 7,263,773 (GRCm39) |
T726S |
probably damaging |
Het |
Eml2 |
T |
G |
7: 18,913,289 (GRCm39) |
|
probably null |
Het |
Ercc6 |
T |
A |
14: 32,279,813 (GRCm39) |
D609E |
probably benign |
Het |
Erg |
C |
A |
16: 95,181,100 (GRCm39) |
R147L |
probably damaging |
Het |
Faiml |
T |
C |
9: 99,114,513 (GRCm39) |
I125M |
possibly damaging |
Het |
Fbxo41 |
A |
T |
6: 85,455,537 (GRCm39) |
L549H |
probably damaging |
Het |
Fbxw2 |
A |
T |
2: 34,702,825 (GRCm39) |
|
probably null |
Het |
Fgd6 |
T |
A |
10: 93,880,161 (GRCm39) |
N338K |
probably benign |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Gm32742 |
T |
A |
9: 51,068,862 (GRCm39) |
I200F |
probably damaging |
Het |
Gm4924 |
T |
G |
10: 82,213,307 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
G |
A |
19: 11,488,973 (GRCm39) |
A87T |
possibly damaging |
Het |
H2-M10.1 |
T |
A |
17: 36,634,994 (GRCm39) |
I304F |
unknown |
Het |
Ighv5-8 |
A |
G |
12: 113,618,611 (GRCm39) |
T9A |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Jakmip1 |
G |
T |
5: 37,299,104 (GRCm39) |
E775* |
probably null |
Het |
Klhl40 |
T |
C |
9: 121,607,026 (GRCm39) |
F62S |
probably damaging |
Het |
Krtcap3 |
A |
T |
5: 31,409,572 (GRCm39) |
R84W |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lins1 |
T |
C |
7: 66,360,496 (GRCm39) |
|
probably null |
Het |
Magi3 |
A |
G |
3: 103,996,912 (GRCm39) |
L211P |
probably damaging |
Het |
Map2k5 |
T |
A |
9: 63,124,647 (GRCm39) |
I359F |
probably benign |
Het |
Map4k5 |
C |
A |
12: 69,878,336 (GRCm39) |
R355L |
probably benign |
Het |
Mef2c |
T |
A |
13: 83,801,057 (GRCm39) |
D252E |
probably damaging |
Het |
Methig1 |
T |
C |
15: 100,251,422 (GRCm39) |
V111A |
possibly damaging |
Het |
Mical3 |
A |
T |
6: 120,985,991 (GRCm39) |
L150Q |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,456,581 (GRCm39) |
|
probably null |
Het |
Nisch |
T |
A |
14: 30,899,085 (GRCm39) |
|
probably benign |
Het |
Or4f15 |
C |
T |
2: 111,814,396 (GRCm39) |
V8I |
probably benign |
Het |
Or5p61 |
T |
C |
7: 107,758,181 (GRCm39) |
N300D |
probably damaging |
Het |
Pcdhb12 |
T |
C |
18: 37,569,892 (GRCm39) |
V346A |
probably benign |
Het |
Pde7b |
T |
C |
10: 20,316,546 (GRCm39) |
D168G |
possibly damaging |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Pla2g4a |
A |
G |
1: 149,733,238 (GRCm39) |
S504P |
probably benign |
Het |
Plin2 |
G |
T |
4: 86,575,526 (GRCm39) |
A341D |
probably damaging |
Het |
Psma8 |
A |
G |
18: 14,854,324 (GRCm39) |
D68G |
probably damaging |
Het |
Rcor3 |
G |
A |
1: 191,808,559 (GRCm39) |
H207Y |
probably benign |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Ryr3 |
A |
G |
2: 112,490,449 (GRCm39) |
F3795S |
probably damaging |
Het |
Samm50 |
C |
G |
15: 84,084,512 (GRCm39) |
P150A |
probably damaging |
Het |
Samm50 |
C |
A |
15: 84,084,513 (GRCm39) |
P150H |
probably damaging |
Het |
Slc28a2b |
A |
T |
2: 122,353,963 (GRCm39) |
I530F |
probably damaging |
Het |
Slc6a18 |
A |
T |
13: 73,818,164 (GRCm39) |
C284* |
probably null |
Het |
Smc3 |
T |
A |
19: 53,616,162 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
G |
A |
2: 127,060,343 (GRCm39) |
G529D |
possibly damaging |
Het |
Sord |
T |
A |
2: 122,089,613 (GRCm39) |
|
probably null |
Het |
Spdl1 |
T |
A |
11: 34,710,713 (GRCm39) |
N345I |
probably damaging |
Het |
Sucnr1 |
T |
C |
3: 59,993,778 (GRCm39) |
L102P |
probably damaging |
Het |
Tbc1d9 |
T |
C |
8: 83,937,145 (GRCm39) |
W76R |
probably damaging |
Het |
Tcerg1 |
T |
A |
18: 42,686,530 (GRCm39) |
Y696N |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,595,655 (GRCm39) |
T492A |
probably benign |
Het |
Trdmt1 |
T |
A |
2: 13,524,870 (GRCm39) |
Q195L |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,813,208 (GRCm39) |
|
probably null |
Het |
Ung |
A |
T |
5: 114,275,361 (GRCm39) |
Y250F |
probably benign |
Het |
Vezf1 |
A |
G |
11: 87,972,326 (GRCm39) |
N229S |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
Wdr97 |
C |
A |
15: 76,239,895 (GRCm39) |
S277* |
probably null |
Het |
Zfp1007 |
T |
C |
5: 109,824,433 (GRCm39) |
H339R |
probably benign |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zscan4-ps1 |
C |
A |
7: 10,799,829 (GRCm39) |
E353D |
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 |
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'- ATTTTACAGGAGGCTGAAACTTCC -3'
Sequencing Primer
(F):5'- GGATATAAATGGCTGTGGCTTATATG -3'
(R):5'- TGAAACTTCCCCCAGAGGATG -3'
|
Posted On |
2018-03-15 |