Incidental Mutation 'R7305:Dab1'
ID |
567220 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dab1
|
Ensembl Gene |
ENSMUSG00000028519 |
Gene Name |
disabled 1 |
Synonyms |
C630028C02Rik |
MMRRC Submission |
045407-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R7305 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
103476556-104602041 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104570987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 210
(D210E)
|
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
|
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 |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000118532 Gene: ENSMUSG00000028519 AA Change: D210E
Domain | Start | End | E-Value | Type |
PTB
|
16 |
150 |
3.51e-36 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
A |
T |
2: 181,135,209 (GRCm39) |
D37V |
possibly damaging |
Het |
Ankhd1 |
A |
G |
18: 36,765,258 (GRCm39) |
D87G |
|
Het |
Ankrd31 |
A |
G |
13: 97,015,479 (GRCm39) |
S1583G |
probably damaging |
Het |
Ankub1 |
T |
C |
3: 57,599,938 (GRCm39) |
|
probably benign |
Het |
Apba3 |
A |
G |
10: 81,107,067 (GRCm39) |
D264G |
probably damaging |
Het |
Armh3 |
A |
T |
19: 45,880,560 (GRCm39) |
M508K |
probably benign |
Het |
Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
Cnot3 |
A |
T |
7: 3,648,479 (GRCm39) |
|
probably benign |
Het |
Cxxc1 |
A |
G |
18: 74,352,467 (GRCm39) |
Y349C |
probably benign |
Het |
Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
Cyp3a57 |
A |
G |
5: 145,307,795 (GRCm39) |
I184V |
probably benign |
Het |
D130052B06Rik |
GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG |
GTCTACACTGTCCTG |
11: 33,573,355 (GRCm39) |
|
probably null |
Het |
Elavl1 |
G |
A |
8: 4,375,199 (GRCm39) |
|
probably benign |
Het |
Emilin1 |
C |
T |
5: 31,074,433 (GRCm39) |
Q225* |
probably null |
Het |
Eml6 |
G |
T |
11: 29,727,258 (GRCm39) |
A1288E |
probably benign |
Het |
Eno1 |
T |
C |
4: 150,329,796 (GRCm39) |
|
probably null |
Het |
Eprs1 |
C |
T |
1: 185,111,898 (GRCm39) |
R303C |
probably damaging |
Het |
Eps15l1 |
G |
A |
8: 73,126,878 (GRCm39) |
A651V |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,714,368 (GRCm39) |
I156F |
probably damaging |
Het |
Faim2 |
A |
T |
15: 99,411,814 (GRCm39) |
I171N |
probably damaging |
Het |
Fam135a |
T |
A |
1: 24,069,939 (GRCm39) |
N381I |
probably damaging |
Het |
Fhip1a |
G |
T |
3: 85,637,831 (GRCm39) |
P156Q |
probably damaging |
Het |
Gabrg3 |
T |
A |
7: 56,384,833 (GRCm39) |
M243L |
probably benign |
Het |
Garin2 |
A |
G |
12: 78,761,809 (GRCm39) |
K158E |
possibly damaging |
Het |
Gm5134 |
A |
G |
10: 75,836,233 (GRCm39) |
I405V |
probably damaging |
Het |
Gm9376 |
A |
T |
14: 118,504,768 (GRCm39) |
K67* |
probably null |
Het |
Grm8 |
A |
T |
6: 27,761,354 (GRCm39) |
I290K |
possibly damaging |
Het |
Hao1 |
T |
A |
2: 134,390,121 (GRCm39) |
M73L |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,369,150 (GRCm39) |
D452G |
|
Het |
Idh3b |
C |
A |
2: 130,123,413 (GRCm39) |
K192N |
possibly damaging |
Het |
Igkv6-23 |
A |
G |
6: 70,237,553 (GRCm39) |
S63P |
probably benign |
Het |
Itgb2 |
A |
C |
10: 77,384,398 (GRCm39) |
D173A |
probably damaging |
Het |
Jmjd8 |
A |
T |
17: 26,049,301 (GRCm39) |
T255S |
probably benign |
Het |
Lamc3 |
A |
C |
2: 31,820,714 (GRCm39) |
E1243A |
probably benign |
Het |
Map1a |
A |
G |
2: 121,129,939 (GRCm39) |
T252A |
probably damaging |
Het |
Mrgpra1 |
C |
A |
7: 46,985,203 (GRCm39) |
A159S |
probably benign |
Het |
Ndst3 |
T |
C |
3: 123,395,131 (GRCm39) |
I500V |
possibly damaging |
Het |
Nhsl1 |
A |
G |
10: 18,407,434 (GRCm39) |
T1523A |
possibly damaging |
Het |
Nr2f1 |
A |
G |
13: 78,343,298 (GRCm39) |
I322T |
probably damaging |
Het |
Nup210 |
T |
C |
6: 91,064,948 (GRCm39) |
E184G |
probably damaging |
Het |
Obsl1 |
C |
T |
1: 75,470,590 (GRCm39) |
W1022* |
probably null |
Het |
Or2l13 |
T |
A |
16: 19,306,449 (GRCm39) |
I287N |
probably damaging |
Het |
Or4a77 |
T |
A |
2: 89,486,846 (GRCm39) |
H313L |
probably benign |
Het |
Or52p2 |
G |
T |
7: 102,237,162 (GRCm39) |
Q263K |
possibly damaging |
Het |
Or5p51 |
A |
T |
7: 107,444,572 (GRCm39) |
Y123N |
probably damaging |
Het |
Or6c1 |
A |
T |
10: 129,518,149 (GRCm39) |
I153N |
probably damaging |
Het |
Or6c65 |
T |
A |
10: 129,603,720 (GRCm39) |
Y118* |
probably null |
Het |
Otulinl |
A |
G |
15: 27,658,319 (GRCm39) |
C184R |
probably benign |
Het |
Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
Parp8 |
A |
G |
13: 117,031,461 (GRCm39) |
L417P |
possibly damaging |
Het |
Pdia6 |
A |
G |
12: 17,324,509 (GRCm39) |
Q120R |
probably benign |
Het |
Ppp3cc |
T |
C |
14: 70,478,252 (GRCm39) |
N290S |
probably benign |
Het |
Prdm5 |
C |
A |
6: 65,808,244 (GRCm39) |
S63R |
possibly damaging |
Het |
Prr14l |
T |
C |
5: 32,988,445 (GRCm39) |
D350G |
probably benign |
Het |
Pwwp2a |
T |
C |
11: 43,607,878 (GRCm39) |
L497S |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,312,547 (GRCm39) |
N430D |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,507,344 (GRCm39) |
N422S |
possibly damaging |
Het |
Rbbp8 |
G |
A |
18: 11,805,638 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCAGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
Slc22a6 |
G |
A |
19: 8,599,522 (GRCm39) |
|
probably null |
Het |
Slc28a3 |
T |
A |
13: 58,714,045 (GRCm39) |
E440V |
possibly damaging |
Het |
Slc30a5 |
A |
T |
13: 100,947,932 (GRCm39) |
I482K |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,870,223 (GRCm39) |
F305Y |
probably damaging |
Het |
Slco1a8 |
G |
A |
6: 141,938,220 (GRCm39) |
A253V |
probably damaging |
Het |
Slco4c1 |
T |
C |
1: 96,756,690 (GRCm39) |
N544S |
probably damaging |
Het |
Smpd4 |
T |
A |
16: 17,459,647 (GRCm39) |
I656N |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,120,953 (GRCm39) |
I4019K |
probably benign |
Het |
Taok1 |
A |
T |
11: 77,432,500 (GRCm39) |
L771* |
probably null |
Het |
Tmem231 |
T |
C |
8: 112,641,927 (GRCm39) |
D209G |
possibly damaging |
Het |
Tmem25 |
A |
G |
9: 44,706,705 (GRCm39) |
|
probably null |
Het |
Tmem79 |
T |
C |
3: 88,240,718 (GRCm39) |
T77A |
probably benign |
Het |
Topbp1 |
A |
T |
9: 103,205,836 (GRCm39) |
T825S |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,853,455 (GRCm39) |
Q1825L |
probably benign |
Het |
Uba1y |
T |
A |
Y: 821,348 (GRCm39) |
D110E |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,261,280 (GRCm39) |
N3422K |
probably benign |
Het |
Vmn1r219 |
A |
T |
13: 23,347,314 (GRCm39) |
M168L |
probably benign |
Het |
Vmn2r62 |
T |
C |
7: 42,414,235 (GRCm39) |
H736R |
possibly damaging |
Het |
Wdr1 |
T |
C |
5: 38,697,435 (GRCm39) |
H291R |
possibly damaging |
Het |
Zan |
T |
C |
5: 137,413,401 (GRCm39) |
T3177A |
unknown |
Het |
Zbtb21 |
T |
C |
16: 97,752,495 (GRCm39) |
H596R |
possibly 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 |
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'- GGCTGCCGTCATCATTAAACTC -3'
(R):5'- TCAGTTTTCCTGTGAACATTGC -3'
Sequencing Primer
(F):5'- ATTCCCTCGCACTTGCAGAATAG -3'
(R):5'- CCTGTGAACATTGCAATGGGC -3'
|
Posted On |
2019-06-26 |