Incidental Mutation 'IGL00955:Spin1'
ID |
28883 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spin1
|
Ensembl Gene |
ENSMUSG00000021395 |
Gene Name |
spindlin 1 |
Synonyms |
Spin |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00955
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
51254916-51306582 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 51298577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095797]
|
AlphaFold |
Q61142 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095797
|
SMART Domains |
Protein: ENSMUSP00000093473 Gene: ENSMUSG00000021395
Domain | Start | End | E-Value | Type |
Pfam:Spin-Ssty
|
54 |
103 |
7.3e-30 |
PFAM |
Pfam:Spin-Ssty
|
133 |
182 |
1.2e-26 |
PFAM |
Pfam:Spin-Ssty
|
214 |
259 |
1.2e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223152
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele display complete postnatal lethality. Although mutant female mice exhibit normal follicular development and oocyte growth, fully grown oocytes are defective in resuming meiosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl11 |
A |
T |
14: 61,548,691 (GRCm39) |
Q167L |
probably benign |
Het |
Ces3a |
T |
A |
8: 105,777,202 (GRCm39) |
V175E |
probably damaging |
Het |
Cherp |
C |
T |
8: 73,224,038 (GRCm39) |
E140K |
probably damaging |
Het |
Clpx |
A |
T |
9: 65,231,552 (GRCm39) |
T546S |
probably damaging |
Het |
Csgalnact2 |
A |
G |
6: 118,106,225 (GRCm39) |
L31P |
probably damaging |
Het |
Cxcr1 |
A |
T |
1: 74,231,379 (GRCm39) |
F214L |
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,631,829 (GRCm39) |
T123S |
possibly damaging |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Dzank1 |
G |
A |
2: 144,332,094 (GRCm39) |
T414I |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,454,156 (GRCm39) |
I641V |
probably benign |
Het |
Gtf2e1 |
A |
T |
16: 37,356,282 (GRCm39) |
D83E |
possibly damaging |
Het |
Hars2 |
T |
C |
18: 36,922,410 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kcnh2 |
T |
C |
5: 24,529,964 (GRCm39) |
D372G |
probably damaging |
Het |
Kcnk2 |
A |
T |
1: 188,975,211 (GRCm39) |
I264N |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,668 (GRCm39) |
D213G |
probably damaging |
Het |
Lhx9 |
T |
C |
1: 138,756,418 (GRCm39) |
T323A |
possibly damaging |
Het |
Lilra6 |
C |
A |
7: 3,914,403 (GRCm39) |
|
probably benign |
Het |
Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
Mov10l1 |
A |
G |
15: 88,879,192 (GRCm39) |
Y184C |
probably damaging |
Het |
Mrpl24 |
T |
A |
3: 87,829,526 (GRCm39) |
L91* |
probably null |
Het |
Mup11 |
C |
T |
4: 60,615,549 (GRCm39) |
R175H |
probably benign |
Het |
Nbea |
T |
C |
3: 55,912,893 (GRCm39) |
K965E |
possibly damaging |
Het |
Or52ab7 |
C |
A |
7: 102,978,528 (GRCm39) |
H278Q |
probably damaging |
Het |
Papss1 |
G |
A |
3: 131,305,710 (GRCm39) |
E252K |
probably benign |
Het |
Robo2 |
A |
T |
16: 73,812,860 (GRCm39) |
L278Q |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,202,125 (GRCm39) |
I638F |
probably damaging |
Het |
Taar9 |
T |
C |
10: 23,985,429 (GRCm39) |
T2A |
probably benign |
Het |
Tbc1d8b |
T |
C |
X: 138,626,629 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Spin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02825:Spin1
|
APN |
13 |
51,277,332 (GRCm39) |
splice site |
probably benign |
|
IGL03366:Spin1
|
APN |
13 |
51,281,973 (GRCm39) |
missense |
probably benign |
0.03 |
R0050:Spin1
|
UTSW |
13 |
51,304,454 (GRCm39) |
utr 3 prime |
probably benign |
|
R0139:Spin1
|
UTSW |
13 |
51,303,048 (GRCm39) |
missense |
probably benign |
0.01 |
R0745:Spin1
|
UTSW |
13 |
51,293,551 (GRCm39) |
missense |
probably damaging |
0.96 |
R1394:Spin1
|
UTSW |
13 |
51,298,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1674:Spin1
|
UTSW |
13 |
51,303,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R1980:Spin1
|
UTSW |
13 |
51,298,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Spin1
|
UTSW |
13 |
51,298,573 (GRCm39) |
critical splice donor site |
probably null |
|
R5326:Spin1
|
UTSW |
13 |
51,293,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R5741:Spin1
|
UTSW |
13 |
51,303,171 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6030:Spin1
|
UTSW |
13 |
51,293,552 (GRCm39) |
nonsense |
probably null |
|
R6030:Spin1
|
UTSW |
13 |
51,293,552 (GRCm39) |
nonsense |
probably null |
|
R6182:Spin1
|
UTSW |
13 |
51,298,374 (GRCm39) |
missense |
probably benign |
|
R7423:Spin1
|
UTSW |
13 |
51,277,326 (GRCm39) |
critical splice donor site |
probably null |
|
R7555:Spin1
|
UTSW |
13 |
51,303,085 (GRCm39) |
missense |
probably benign |
0.02 |
R8912:Spin1
|
UTSW |
13 |
51,298,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R9014:Spin1
|
UTSW |
13 |
51,282,010 (GRCm39) |
critical splice donor site |
probably null |
|
R9735:Spin1
|
UTSW |
13 |
51,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |