Incidental Mutation 'R1352:Spice1'
| ID |
156719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spice1
|
| Ensembl Gene |
ENSMUSG00000043065 |
| Gene Name |
spindle and centriole associated protein 1 |
| Synonyms |
Ccdc52, D16Ertd480e |
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44167761-44208857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44207185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 856
(S856P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050897]
|
| AlphaFold |
Q8C804 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050897
AA Change: S856P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: S856P
| 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: ENSMUST00000126228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133168
|
| Meta Mutation Damage Score |
0.1560 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
probably damaging |
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 |
|
IGL03259:Spice1
|
APN |
16 |
44,176,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGACACCTGCTGAACAGGCAAC -3'
(R):5'- GCTTTACTCACAGGGAATTAGAGGTGC -3'
Sequencing Primer
(F):5'- GTCTTCGTGGGCAGGAGC -3'
(R):5'- GGTGCTTTGTTGAAAAAACATTTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation