Incidental Mutation 'R9735:Spin1'
| ID |
731646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spin1
|
| Ensembl Gene |
ENSMUSG00000021395 |
| Gene Name |
spindlin 1 |
| Synonyms |
Spin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
51254916-51306582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51293521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 77
(L77Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095797]
|
| AlphaFold |
Q61142 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095797
AA Change: L77Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093473
Gene: ENSMUSG00000021395
AA Change: L77Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 98.2%
|
| 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 |
|---|
| Adcy7 |
T |
C |
8: 89,037,262 (GRCm39) |
V215A |
probably benign |
Het |
| Arhgef12 |
G |
A |
9: 42,882,399 (GRCm39) |
R1482* |
probably null |
Het |
| Atp9b |
A |
T |
18: 80,838,629 (GRCm39) |
D428E |
|
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cd6 |
A |
G |
19: 10,775,235 (GRCm39) |
S296P |
probably benign |
Het |
| Cpt1a |
A |
G |
19: 3,420,825 (GRCm39) |
R428G |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,402,901 (GRCm39) |
T2330P |
|
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dcaf4 |
T |
A |
12: 83,572,939 (GRCm39) |
I18N |
probably benign |
Het |
| Ern1 |
A |
T |
11: 106,312,708 (GRCm39) |
Y224* |
probably null |
Het |
| Ero1a |
T |
A |
14: 45,533,435 (GRCm39) |
S224C |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,435 (GRCm39) |
V2074E |
probably damaging |
Het |
| Flg2 |
A |
G |
3: 93,127,669 (GRCm39) |
S2194G |
unknown |
Het |
| Fnip1 |
A |
T |
11: 54,394,273 (GRCm39) |
D903V |
probably damaging |
Het |
| Lss |
G |
T |
10: 76,382,615 (GRCm39) |
A497S |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,621,882 (GRCm39) |
F675L |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,735,179 (GRCm39) |
F720L |
probably benign |
Het |
| Nup210 |
A |
C |
6: 91,030,630 (GRCm39) |
S884A |
probably benign |
Het |
| Or2j6 |
T |
A |
7: 139,980,378 (GRCm39) |
M194L |
probably benign |
Het |
| Or4p20 |
A |
T |
2: 88,253,501 (GRCm39) |
N289K |
probably damaging |
Het |
| Osbpl5 |
C |
T |
7: 143,248,673 (GRCm39) |
V630I |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,772,820 (GRCm39) |
I1069T |
possibly damaging |
Het |
| Rnaseh2a |
C |
T |
8: 85,686,661 (GRCm39) |
V163M |
probably damaging |
Het |
| Septin9 |
T |
A |
11: 117,245,680 (GRCm39) |
V434E |
probably damaging |
Het |
| Slc36a3 |
A |
T |
11: 55,026,104 (GRCm39) |
I238N |
probably damaging |
Het |
| Spint1 |
A |
G |
2: 119,076,897 (GRCm39) |
D327G |
probably damaging |
Het |
| Tmub2 |
A |
G |
11: 102,178,352 (GRCm39) |
D123G |
|
Het |
| Vps13a |
A |
T |
19: 16,701,111 (GRCm39) |
L686Q |
probably damaging |
Het |
| Zfp51 |
C |
A |
17: 21,685,413 (GRCm39) |
S676* |
probably null |
Het |
|
| Other mutations in Spin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Spin1
|
APN |
13 |
51,298,577 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTCCAGATATGCATTCTTG -3'
(R):5'- AGAGGTGCTTGAGGTCTGATAC -3'
Sequencing Primer
(F):5'- GAAAACATCGGACCAGTGT -3'
(R):5'- GCTTGAGGTCTGATACAAGTTAAAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation