Incidental Mutation 'R9311:Dab1'
| ID |
705545 |
| 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 # |
R9311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
103476556-104602041 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 104369463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106826]
[ENSMUST00000106827]
[ENSMUST00000106830]
[ENSMUST00000143644]
[ENSMUST00000146078]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106826
|
| SMART Domains |
Protein: ENSMUSP00000102439
Gene: ENSMUSG00000028519
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
17 |
151 |
3.51e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106827
|
| SMART Domains |
Protein: ENSMUSP00000102440
Gene: ENSMUSG00000028519
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
37 |
171 |
3.51e-36 |
SMART |
|
| 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: ENSMUST00000143644
|
| SMART Domains |
Protein: ENSMUSP00000118650
Gene: ENSMUSG00000028519
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
37 |
160 |
5.54e-25 |
SMART |
|
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,495,816 (GRCm39) |
I84T |
possibly damaging |
Het |
| Adad2 |
G |
T |
8: 120,341,986 (GRCm39) |
R268L |
probably damaging |
Het |
| Agxt2 |
A |
T |
15: 10,380,733 (GRCm39) |
N208I |
probably damaging |
Het |
| Brsk1 |
G |
T |
7: 4,709,722 (GRCm39) |
|
probably null |
Het |
| Cd40 |
A |
T |
2: 164,912,667 (GRCm39) |
Q235L |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,859,490 (GRCm39) |
D1137V |
unknown |
Het |
| Cln6 |
T |
C |
9: 62,757,900 (GRCm39) |
Y220H |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,010,794 (GRCm39) |
|
probably null |
Het |
| Cpne1 |
A |
T |
2: 155,919,723 (GRCm39) |
V277E |
probably damaging |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,139 (GRCm39) |
T41A |
probably benign |
Het |
| Eif4e1b |
C |
A |
13: 54,932,332 (GRCm39) |
H56N |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,823,788 (GRCm39) |
D78E |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Gabarap |
T |
A |
11: 69,882,549 (GRCm39) |
V4E |
probably benign |
Het |
| Gm5105 |
T |
A |
3: 137,755,418 (GRCm39) |
D56V |
unknown |
Het |
| Gosr2 |
G |
T |
11: 103,574,693 (GRCm39) |
H134Q |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,589,215 (GRCm39) |
V72A |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,416 (GRCm39) |
V422A |
probably benign |
Het |
| Kcne4 |
C |
A |
1: 78,795,824 (GRCm39) |
D157E |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,345 (GRCm39) |
N195S |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,123 (GRCm39) |
V75A |
probably benign |
Het |
| Klkb1 |
T |
C |
8: 45,722,983 (GRCm39) |
T625A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,275 (GRCm39) |
|
probably null |
Het |
| Lifr |
A |
G |
15: 7,208,418 (GRCm39) |
I599V |
possibly damaging |
Het |
| Lin52 |
A |
T |
12: 84,576,470 (GRCm39) |
E101V |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,802,680 (GRCm39) |
I130V |
probably benign |
Het |
| Liph |
C |
T |
16: 21,774,913 (GRCm39) |
R428Q |
probably damaging |
Het |
| Lrrc4c |
A |
C |
2: 97,461,080 (GRCm39) |
I569L |
possibly damaging |
Het |
| Mnat1 |
G |
A |
12: 73,214,916 (GRCm39) |
V78I |
probably benign |
Het |
| Msln |
C |
T |
17: 25,971,990 (GRCm39) |
D76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,463,253 (GRCm39) |
H495R |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nfu1 |
T |
C |
6: 86,986,926 (GRCm39) |
V15A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,608,714 (GRCm39) |
S441P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,214,090 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
A |
T |
2: 36,760,405 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5h27 |
A |
T |
16: 59,006,106 (GRCm39) |
C247S |
unknown |
Het |
| Or5w22 |
A |
G |
2: 87,362,358 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,583,925 (GRCm39) |
S272P |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,978,189 (GRCm39) |
V1109A |
unknown |
Het |
| Pik3c3 |
G |
A |
18: 30,445,666 (GRCm39) |
R551H |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 135,189,385 (GRCm39) |
V838I |
probably benign |
Het |
| Plppr4 |
G |
T |
3: 117,119,518 (GRCm39) |
T297K |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,051,320 (GRCm39) |
I67T |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,539 (GRCm39) |
N312K |
probably damaging |
Het |
| Sh3glb1 |
A |
C |
3: 144,397,659 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
C |
T |
2: 130,916,013 (GRCm39) |
C1283Y |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,972,995 (GRCm39) |
I204V |
probably damaging |
Het |
| Sprr5 |
T |
G |
3: 92,440,397 (GRCm39) |
Q14P |
unknown |
Het |
| Supt6 |
T |
C |
11: 78,116,284 (GRCm39) |
Y693C |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,152 (GRCm39) |
V94A |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,846,877 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,863,029 (GRCm39) |
H678R |
possibly damaging |
Het |
| Tnr |
G |
C |
1: 159,677,663 (GRCm39) |
G16A |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,700,563 (GRCm39) |
|
probably null |
Het |
| Tpmt |
A |
G |
13: 47,185,892 (GRCm39) |
|
probably null |
Het |
| Treh |
G |
A |
9: 44,592,655 (GRCm39) |
V87I |
probably benign |
Het |
| Ttc4 |
T |
C |
4: 106,535,963 (GRCm39) |
D33G |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,703,257 (GRCm39) |
D1171G |
probably benign |
Het |
| Vmn2r61 |
G |
T |
7: 41,950,092 (GRCm39) |
L837F |
possibly damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,288,440 (GRCm39) |
N354Y |
probably damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Zscan4b |
C |
A |
7: 10,635,950 (GRCm39) |
V126F |
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 |
|
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 |
|
|
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'- ATGGCAGTTCAACAGAATTATCAGG -3'
(R):5'- GAGGGCTGAAAATACTTGCCAC -3'
Sequencing Primer
(F):5'- GTTCAACAGAATTATCAGGAATGTTC -3'
(R):5'- ACAAAGGCTGTGGTGACTGTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation