Incidental Mutation 'R7115:Spice1'
ID |
551743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spice1
|
Ensembl Gene |
ENSMUSG00000043065 |
Gene Name |
spindle and centriole associated protein 1 |
Synonyms |
Ccdc52, D16Ertd480e |
MMRRC Submission |
045206-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7115 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
44167761-44208857 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 44199638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 697
(G697R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050897]
|
AlphaFold |
Q8C804 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050897
AA Change: G697R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000058832 Gene: ENSMUSG00000043065 AA Change: G697R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,255,589 (GRCm39) |
I636N |
probably benign |
Het |
Adam5 |
A |
G |
8: 25,271,712 (GRCm39) |
I565T |
possibly damaging |
Het |
Amd2 |
C |
A |
10: 35,587,633 (GRCm39) |
|
probably benign |
Het |
Ap5m1 |
T |
A |
14: 49,323,727 (GRCm39) |
Y472* |
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,070,024 (GRCm39) |
F97S |
probably damaging |
Het |
Axdnd1 |
T |
C |
1: 156,208,446 (GRCm39) |
K267R |
|
Het |
Carf |
G |
T |
1: 60,187,309 (GRCm39) |
L637F |
probably damaging |
Het |
Ccdc103 |
A |
T |
11: 102,774,636 (GRCm39) |
S95C |
possibly damaging |
Het |
Cfap20 |
T |
C |
8: 96,147,874 (GRCm39) |
I156V |
probably benign |
Het |
Csn1s2a |
T |
C |
5: 87,929,664 (GRCm39) |
C96R |
probably benign |
Het |
Cspg4b |
T |
G |
13: 113,457,310 (GRCm39) |
S1119A |
|
Het |
Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
Dennd2a |
G |
A |
6: 39,483,645 (GRCm39) |
T405M |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,493,961 (GRCm39) |
Y1248H |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,547,710 (GRCm39) |
K2504N |
probably damaging |
Het |
Dnajb2 |
G |
A |
1: 75,220,306 (GRCm39) |
G275D |
|
Het |
Elf3 |
T |
G |
1: 135,184,856 (GRCm39) |
D110A |
probably damaging |
Het |
Eomes |
A |
G |
9: 118,313,557 (GRCm39) |
N534S |
probably benign |
Het |
Fry |
A |
T |
5: 150,309,532 (GRCm39) |
R659W |
probably damaging |
Het |
Gm10428 |
G |
A |
11: 62,644,206 (GRCm39) |
C94Y |
unknown |
Het |
Gm2696 |
T |
A |
10: 77,672,133 (GRCm39) |
C111S |
unknown |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,888,247 (GRCm39) |
N2338Y |
|
Het |
Map2k1 |
A |
G |
9: 64,119,888 (GRCm39) |
I139T |
probably damaging |
Het |
Or10n7-ps1 |
T |
C |
9: 39,598,003 (GRCm39) |
Y79C |
probably benign |
Het |
Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
Pxylp1 |
G |
A |
9: 96,707,063 (GRCm39) |
T373I |
probably benign |
Het |
Ranbp9 |
T |
C |
13: 43,560,147 (GRCm39) |
N484S |
probably benign |
Het |
Rassf5 |
A |
G |
1: 131,108,986 (GRCm39) |
V293A |
probably benign |
Het |
Ring1 |
A |
G |
17: 34,242,420 (GRCm39) |
I29T |
probably damaging |
Het |
Scn1a |
G |
A |
2: 66,154,962 (GRCm39) |
Q666* |
probably null |
Het |
Tas2r131 |
A |
G |
6: 132,934,567 (GRCm39) |
F81L |
probably benign |
Het |
Tenm2 |
G |
A |
11: 36,054,644 (GRCm39) |
S572L |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,569,977 (GRCm39) |
T128A |
probably benign |
Het |
Trim56 |
T |
A |
5: 137,142,514 (GRCm39) |
Q334L |
probably damaging |
Het |
Vmn2r44 |
T |
A |
7: 8,370,527 (GRCm39) |
R840* |
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 |
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 |
|
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 |
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'- AGCCAAGAAACCCCGTGTTG -3'
(R):5'- TTTGTCTAACCTAAGGGCCAG -3'
Sequencing Primer
(F):5'- AAACCCCGTGTTGTCAGAG -3'
(R):5'- TTCTGACACAGGGAGTCTGAAACC -3'
|
Posted On |
2019-05-15 |