Incidental Mutation 'R3857:Spice1'
| ID |
276231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spice1
|
| Ensembl Gene |
ENSMUSG00000043065 |
| Gene Name |
spindle and centriole associated protein 1 |
| Synonyms |
Ccdc52, D16Ertd480e |
| MMRRC Submission |
040785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44167761-44208857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44175806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050897]
|
| AlphaFold |
Q8C804 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050897
AA Change: S2P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: S2P
| 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
|
| Meta Mutation Damage Score |
0.2921 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdkrb2 |
T |
C |
12: 105,558,698 (GRCm39) |
V313A |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
| Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,396 (GRCm39) |
D656G |
probably damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,979,016 (GRCm39) |
D133E |
unknown |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ercc8 |
A |
G |
13: 108,330,648 (GRCm39) |
E395G |
possibly damaging |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,209,668 (GRCm39) |
L99P |
probably benign |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gse1 |
T |
A |
8: 121,297,872 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
| Irx1 |
A |
T |
13: 72,111,577 (GRCm39) |
Y11N |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,966,440 (GRCm39) |
I1658N |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Pcna |
A |
T |
2: 132,091,541 (GRCm39) |
S261T |
probably benign |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pitpnc1 |
T |
C |
11: 107,211,631 (GRCm39) |
|
probably null |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 79,999,603 (GRCm39) |
T7A |
possibly damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Spty2d1 |
G |
A |
7: 46,648,044 (GRCm39) |
T295I |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,027,633 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,739,319 (GRCm39) |
D3740V |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,098 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Zfp101 |
G |
T |
17: 33,601,405 (GRCm39) |
S79* |
probably null |
Het |
| Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,631,479 (GRCm39) |
I1372N |
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 |
|
|
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 |
|
|
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'- TTAGAGCTGCACTTCTCACGC -3'
(R):5'- GGCAAATGTCCTGCTCTTCC -3'
Sequencing Primer
(F):5'- GCACAGCTCTGGCGTTTC -3'
(R):5'- ACCCTACTTGAGCCTGAGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation