Incidental Mutation 'IGL03259:Spice1'
| ID |
414751 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spice1
|
| Ensembl Gene |
ENSMUSG00000043065 |
| Gene Name |
spindle and centriole associated protein 1 |
| Synonyms |
Ccdc52, D16Ertd480e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44167761-44208857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44176530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 40
(V40D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050897]
|
| AlphaFold |
Q8C804 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050897
AA Change: V40D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: V40D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPICE
|
33 |
436 |
1.4e-151 |
PFAM |
|
low complexity region
|
627 |
642 |
N/A |
INTRINSIC |
|
coiled coil region
|
729 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
824 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155661
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
T |
C |
5: 67,781,349 (GRCm39) |
|
probably null |
Het |
| Btbd3 |
T |
C |
2: 138,121,680 (GRCm39) |
M121T |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,953,483 (GRCm39) |
N500I |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,663,841 (GRCm39) |
L534P |
probably damaging |
Het |
| Cyp2d11 |
C |
T |
15: 82,274,221 (GRCm39) |
V387M |
probably damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,094,077 (GRCm39) |
I443T |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,098,985 (GRCm39) |
D1305V |
probably damaging |
Het |
| Hps5 |
G |
T |
7: 46,412,526 (GRCm39) |
P1021Q |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,980,156 (GRCm39) |
D637G |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,407,705 (GRCm39) |
D1233G |
probably damaging |
Het |
| Lad1 |
A |
T |
1: 135,755,394 (GRCm39) |
R223S |
probably benign |
Het |
| Ms4a13 |
A |
G |
19: 11,161,210 (GRCm39) |
S110P |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,652,576 (GRCm39) |
D387E |
possibly damaging |
Het |
| Or1m1 |
A |
G |
9: 18,666,811 (GRCm39) |
V40A |
probably benign |
Het |
| Or7a41 |
C |
A |
10: 78,871,234 (GRCm39) |
Y201* |
probably null |
Het |
| Or8k3b |
G |
T |
2: 86,520,894 (GRCm39) |
Q142K |
probably benign |
Het |
| Pcgf5 |
T |
A |
19: 36,433,059 (GRCm39) |
D234E |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,480,388 (GRCm39) |
H1973L |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,167,251 (GRCm39) |
F226L |
probably damaging |
Het |
| Pgp |
A |
G |
17: 24,690,022 (GRCm39) |
K180R |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,938,788 (GRCm39) |
K404* |
probably null |
Het |
| Serinc5 |
T |
A |
13: 92,827,500 (GRCm39) |
V272D |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,247,979 (GRCm39) |
H395R |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,035,853 (GRCm39) |
I3713M |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,086 (GRCm39) |
L48* |
probably null |
Het |
| Vwa7 |
A |
G |
17: 35,239,002 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Spice1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:Spice1
|
APN |
16 |
44,186,993 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01688:Spice1
|
APN |
16 |
44,205,073 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03367:Spice1
|
APN |
16 |
44,176,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0230:Spice1
|
UTSW |
16 |
44,185,939 (GRCm39) |
splice site |
probably benign |
|
|
R0944:Spice1
|
UTSW |
16 |
44,205,124 (GRCm39) |
missense |
probably benign |
|
|
R1352:Spice1
|
UTSW |
16 |
44,207,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Spice1
|
UTSW |
16 |
44,185,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Spice1
|
UTSW |
16 |
44,185,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Spice1
|
UTSW |
16 |
44,185,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Spice1
|
UTSW |
16 |
44,178,193 (GRCm39) |
nonsense |
probably null |
|
|
R2404:Spice1
|
UTSW |
16 |
44,186,989 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2444:Spice1
|
UTSW |
16 |
44,186,931 (GRCm39) |
nonsense |
probably null |
|
|
R3551:Spice1
|
UTSW |
16 |
44,178,232 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3848:Spice1
|
UTSW |
16 |
44,199,254 (GRCm39) |
nonsense |
probably null |
|
|
R3857:Spice1
|
UTSW |
16 |
44,175,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4490:Spice1
|
UTSW |
16 |
44,202,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5593:Spice1
|
UTSW |
16 |
44,191,115 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5996:Spice1
|
UTSW |
16 |
44,205,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6303:Spice1
|
UTSW |
16 |
44,191,060 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6552:Spice1
|
UTSW |
16 |
44,199,396 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7042:Spice1
|
UTSW |
16 |
44,206,043 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7062:Spice1
|
UTSW |
16 |
44,178,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Spice1
|
UTSW |
16 |
44,175,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7115:Spice1
|
UTSW |
16 |
44,199,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7762:Spice1
|
UTSW |
16 |
44,190,864 (GRCm39) |
splice site |
probably null |
|
|
R8408:Spice1
|
UTSW |
16 |
44,205,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9182:Spice1
|
UTSW |
16 |
44,206,065 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9477:Spice1
|
UTSW |
16 |
44,197,183 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9671:Spice1
|
UTSW |
16 |
44,199,671 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2016-08-02 |
Incidental Mutation