Incidental Mutation 'R4927:Dab1'
| ID |
380894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dab1
|
| Ensembl Gene |
ENSMUSG00000028519 |
| Gene Name |
disabled 1 |
| Synonyms |
C630028C02Rik |
| MMRRC Submission |
042528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R4927 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
103476556-104602041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104561449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 245
(T245A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106830]
[ENSMUST00000146078]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106830
|
| SMART Domains |
Protein: ENSMUSP00000102443
Gene: ENSMUSG00000028519
| 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
AA Change: T245A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125033
Gene: ENSMUSG00000028519
AA Change: T245A
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
37 |
171 |
3.51e-36 |
SMART |
|
low complexity region
|
235 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149672
|
| SMART Domains |
Protein: ENSMUSP00000118532
Gene: ENSMUSG00000028519
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
16 |
150 |
3.51e-36 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adamts2 |
T |
A |
11: 50,694,639 (GRCm39) |
L1142* |
probably null |
Het |
| Arl13b |
C |
A |
16: 62,622,150 (GRCm39) |
G381V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,892,641 (GRCm39) |
V1507F |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,859,408 (GRCm39) |
F38I |
probably benign |
Het |
| Bend4 |
T |
C |
5: 67,557,619 (GRCm39) |
Y399C |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,644,794 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
A |
T |
11: 94,319,973 (GRCm39) |
L1401Q |
probably damaging |
Het |
| Ccdc192 |
C |
T |
18: 57,863,888 (GRCm39) |
Q213* |
probably null |
Het |
| Cep192 |
T |
C |
18: 67,968,195 (GRCm39) |
V893A |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,447,012 (GRCm39) |
Y355N |
probably damaging |
Het |
| Col6a5 |
G |
C |
9: 105,811,163 (GRCm39) |
S785R |
unknown |
Het |
| Cpa3 |
A |
G |
3: 20,276,303 (GRCm39) |
L310P |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,015,152 (GRCm39) |
I247T |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,985 (GRCm39) |
D315V |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,583,762 (GRCm39) |
L599* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,629,289 (GRCm39) |
I4231T |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,476,000 (GRCm39) |
V1659A |
probably damaging |
Het |
| Flot2 |
G |
A |
11: 77,949,888 (GRCm39) |
V406M |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,032,362 (GRCm39) |
D75G |
probably damaging |
Het |
| Gcnt3 |
A |
T |
9: 69,942,464 (GRCm39) |
C35S |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,052,118 (GRCm39) |
F199L |
probably benign |
Het |
| Gramd2b |
C |
T |
18: 56,618,523 (GRCm39) |
P244S |
probably damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,278,203 (GRCm39) |
L177P |
probably damaging |
Het |
| Homez |
T |
C |
14: 55,095,264 (GRCm39) |
E148G |
possibly damaging |
Het |
| Kcnab3 |
G |
A |
11: 69,217,572 (GRCm39) |
C22Y |
possibly damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,185,009 (GRCm39) |
S430R |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,692,798 (GRCm39) |
C125R |
probably benign |
Het |
| Klhl7 |
G |
A |
5: 24,346,185 (GRCm39) |
R277Q |
possibly damaging |
Het |
| Krt78 |
A |
G |
15: 101,855,334 (GRCm39) |
S826P |
probably benign |
Het |
| Krtap14 |
T |
C |
16: 88,622,919 (GRCm39) |
Y20C |
possibly damaging |
Het |
| Lrcol1 |
A |
G |
5: 110,502,163 (GRCm39) |
|
probably null |
Het |
| Lrrc10b |
G |
A |
19: 10,434,226 (GRCm39) |
P152S |
probably damaging |
Het |
| Lrrn3 |
C |
G |
12: 41,503,124 (GRCm39) |
D398H |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,749,932 (GRCm39) |
I1140V |
probably benign |
Het |
| Mos |
G |
A |
4: 3,871,093 (GRCm39) |
T241M |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,807,901 (GRCm39) |
E39G |
possibly damaging |
Het |
| Olfm1 |
T |
G |
2: 28,104,798 (GRCm39) |
S212A |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,633 (GRCm39) |
F35L |
probably damaging |
Het |
| Pip4p2 |
G |
T |
4: 14,912,458 (GRCm39) |
R189L |
probably damaging |
Het |
| Plec |
G |
T |
15: 76,061,162 (GRCm39) |
T2947K |
probably damaging |
Het |
| Pramel27 |
A |
T |
4: 143,578,187 (GRCm39) |
Q149L |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,823,350 (GRCm39) |
M474V |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,719,408 (GRCm39) |
Y4333C |
unknown |
Het |
| Scrn2 |
G |
C |
11: 96,924,326 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
C |
A |
19: 6,587,791 (GRCm39) |
V388L |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,526,866 (GRCm39) |
V754A |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,335,195 (GRCm39) |
F195S |
probably damaging |
Het |
| Slfn9 |
A |
C |
11: 82,872,216 (GRCm39) |
M840R |
possibly damaging |
Het |
| Speer4b |
T |
C |
5: 27,706,263 (GRCm39) |
N35D |
probably damaging |
Het |
| Taf1d |
T |
A |
9: 15,221,250 (GRCm39) |
D185E |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,475,213 (GRCm39) |
L245P |
probably damaging |
Het |
| Tent4a |
A |
T |
13: 69,651,019 (GRCm39) |
|
probably null |
Het |
| Ticam2 |
T |
C |
18: 46,693,846 (GRCm39) |
I80M |
probably damaging |
Het |
| Tmem268 |
G |
A |
4: 63,502,164 (GRCm39) |
V331I |
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,840,931 (GRCm39) |
E425G |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,654,133 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,107,489 (GRCm39) |
H601R |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,880,661 (GRCm39) |
M1L |
probably benign |
Het |
| Vmn2r120 |
G |
T |
17: 57,816,125 (GRCm39) |
N743K |
probably damaging |
Het |
| Wnt6 |
C |
A |
1: 74,823,295 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
A |
C |
1: 74,823,296 (GRCm39) |
|
probably null |
Het |
| Wnt8a |
T |
A |
18: 34,680,525 (GRCm39) |
C297S |
probably damaging |
Het |
| Zfp786 |
T |
C |
6: 47,797,087 (GRCm39) |
Q617R |
probably benign |
Het |
| Zfp91 |
A |
G |
19: 12,753,774 (GRCm39) |
|
probably null |
Het |
| Zw10 |
T |
A |
9: 48,979,983 (GRCm39) |
F371L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGCTTACAGGAGTGGC -3'
(R):5'- TTTGGGAGAGACCTCTGTACCAC -3'
Sequencing Primer
(F):5'- CTTACAGGAGTGGCTAGTATCC -3'
(R):5'- TCTTACCATGGAAGGAGACCTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation