Incidental Mutation 'R6207:Dab1'
| ID |
503179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab1
|
| Ensembl Gene |
ENSMUSG00000028519 |
| Gene Name |
disabled 1 |
| Synonyms |
C630028C02Rik |
| MMRRC Submission |
044341-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.877)
|
| Stock # |
R6207 (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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
G |
A |
7: 126,430,065 (GRCm39) |
P69S |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,973,017 (GRCm39) |
R864G |
probably benign |
Het |
| Acbd5 |
T |
C |
2: 22,959,490 (GRCm39) |
C15R |
possibly damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,604,955 (GRCm39) |
|
probably null |
Het |
| Ak3 |
T |
A |
19: 29,000,340 (GRCm39) |
K190N |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,183,575 (GRCm39) |
|
probably null |
Het |
| Calcrl |
T |
C |
2: 84,163,874 (GRCm39) |
H439R |
probably benign |
Het |
| Casp7 |
T |
A |
19: 56,429,452 (GRCm39) |
D279E |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,857,186 (GRCm39) |
V337A |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,157,651 (GRCm39) |
Y684C |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Homo |
| Commd7 |
T |
C |
2: 153,474,530 (GRCm39) |
N23S |
possibly damaging |
Het |
| Cpne9 |
A |
T |
6: 113,271,734 (GRCm39) |
I365F |
possibly damaging |
Het |
| Dot1l |
C |
T |
10: 80,622,277 (GRCm39) |
A831V |
probably benign |
Het |
| Entrep1 |
T |
C |
19: 23,950,802 (GRCm39) |
E593G |
probably damaging |
Het |
| Epcam |
C |
A |
17: 87,947,864 (GRCm39) |
N111K |
probably damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,524 (GRCm39) |
Q123R |
probably damaging |
Het |
| Fam170a |
A |
T |
18: 50,415,017 (GRCm39) |
E221V |
probably damaging |
Het |
| Fbl |
T |
C |
7: 27,874,278 (GRCm39) |
S88P |
possibly damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,874,251 (GRCm39) |
Y82* |
probably null |
Het |
| Fer1l5 |
A |
G |
1: 36,424,241 (GRCm39) |
K285R |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,569 (GRCm39) |
T444K |
probably damaging |
Het |
| Gak |
C |
T |
5: 108,772,895 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,502,931 (GRCm39) |
I311V |
probably benign |
Het |
| Hrg |
T |
C |
16: 22,773,288 (GRCm39) |
|
probably null |
Het |
| Htatip2 |
G |
A |
7: 49,420,567 (GRCm39) |
V138I |
probably benign |
Het |
| Ighv1-4 |
A |
T |
12: 114,451,142 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,755,026 (GRCm39) |
M174V |
possibly damaging |
Het |
| Krt39 |
G |
T |
11: 99,412,041 (GRCm39) |
P15Q |
probably damaging |
Het |
| L1td1 |
G |
A |
4: 98,625,655 (GRCm39) |
D617N |
possibly damaging |
Het |
| Lgalsl |
T |
A |
11: 20,779,382 (GRCm39) |
K88* |
probably null |
Het |
| Lims1 |
A |
T |
10: 58,230,386 (GRCm39) |
K49M |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 65,020,600 (GRCm39) |
V792A |
probably benign |
Het |
| Mcm2 |
G |
T |
6: 88,862,844 (GRCm39) |
D749E |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,057,491 (GRCm39) |
T775M |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,021,221 (GRCm39) |
S403P |
probably benign |
Het |
| Nek6 |
T |
C |
2: 38,447,846 (GRCm39) |
S37P |
possibly damaging |
Het |
| Or10d1b |
T |
C |
9: 39,613,606 (GRCm39) |
H153R |
probably benign |
Het |
| Or14c46 |
A |
C |
7: 85,918,968 (GRCm39) |
F10V |
probably damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,209 (GRCm39) |
V46A |
probably benign |
Het |
| Or56b2j |
G |
A |
7: 104,352,818 (GRCm39) |
V15M |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,095,480 (GRCm39) |
I328N |
probably damaging |
Het |
| Psap |
T |
A |
10: 60,136,317 (GRCm39) |
C484S |
probably damaging |
Het |
| Pus1 |
T |
C |
5: 110,925,580 (GRCm39) |
D80G |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,648,251 (GRCm39) |
T138A |
possibly damaging |
Het |
| Scaf1 |
G |
T |
7: 44,657,047 (GRCm39) |
|
probably benign |
Het |
| Skap1 |
T |
A |
11: 96,594,959 (GRCm39) |
Y143* |
probably null |
Het |
| Slc22a20 |
A |
G |
19: 6,035,969 (GRCm39) |
L67P |
probably damaging |
Het |
| Slc25a17 |
T |
C |
15: 81,213,265 (GRCm39) |
Y146C |
probably damaging |
Het |
| Slfn4 |
C |
T |
11: 83,079,951 (GRCm39) |
T154I |
possibly damaging |
Het |
| Snai1 |
T |
A |
2: 167,380,229 (GRCm39) |
V7D |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,052,655 (GRCm39) |
M84K |
probably benign |
Het |
| Spop |
G |
T |
11: 95,362,063 (GRCm39) |
K31N |
possibly damaging |
Het |
| Surf1 |
T |
C |
2: 26,804,819 (GRCm39) |
T145A |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,037,165 (GRCm39) |
E278G |
probably damaging |
Het |
| Thumpd2 |
G |
A |
17: 81,363,266 (GRCm39) |
A67V |
probably damaging |
Het |
| Timd4 |
A |
T |
11: 46,706,353 (GRCm39) |
M52L |
probably damaging |
Het |
| Trav16 |
A |
T |
14: 53,981,045 (GRCm39) |
N78I |
probably damaging |
Het |
| Tspan12 |
T |
C |
6: 21,799,907 (GRCm39) |
T147A |
probably damaging |
Het |
| Tulp1 |
A |
T |
17: 28,577,651 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,797,915 (GRCm39) |
N527K |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,148,559 (GRCm39) |
C1681Y |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,665,910 (GRCm39) |
K1037E |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,313,926 (GRCm39) |
H352Y |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,616 (GRCm39) |
H47L |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,633,968 (GRCm39) |
E57G |
probably damaging |
Het |
| Zfp180 |
A |
T |
7: 23,804,510 (GRCm39) |
R310* |
probably null |
Het |
| Zfp672 |
T |
C |
11: 58,208,349 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGATATAAATGGCTGTGGC -3'
(R):5'- GCAACCAGTTATTTTACAGGAGGC -3'
Sequencing Primer
(F):5'- GGATATAAATGGCTGTGGCTTATATG -3'
(R):5'- TTTACAGGAGGCTGAAACTTCCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation