Incidental Mutation 'IGL00236:Spatc1'
| ID |
2130 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spatc1
|
| Ensembl Gene |
ENSMUSG00000049653 |
| Gene Name |
spermatogenesis and centriole associated 1 |
| Synonyms |
1700084J23Rik, speriolin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL00236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76152289-76176772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76168994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 321
(D321G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074173]
[ENSMUST00000230221]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074173
AA Change: D321G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653
AA Change: D321G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Speriolin_N
|
1 |
176 |
5.1e-67 |
PFAM |
|
Pfam:Speriolin_N
|
172 |
262 |
1.2e-25 |
PFAM |
|
Pfam:Speriolin_C
|
334 |
480 |
1.5e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230221
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh1 |
A |
G |
12: 87,490,467 (GRCm39) |
V43A |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,381,787 (GRCm39) |
S2460T |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,870,201 (GRCm39) |
L176P |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,744,569 (GRCm39) |
I952T |
probably damaging |
Het |
| Cdkl4 |
A |
T |
17: 80,832,705 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,227,767 (GRCm39) |
L156P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,905,880 (GRCm39) |
L90S |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,769,481 (GRCm39) |
D276G |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,525,619 (GRCm39) |
D1481G |
unknown |
Het |
| Fam83b |
T |
C |
9: 76,398,260 (GRCm39) |
I948V |
probably benign |
Het |
| Fbxl5 |
G |
T |
5: 43,922,678 (GRCm39) |
H247N |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,692,032 (GRCm39) |
I37T |
probably benign |
Het |
| Hfe |
C |
T |
13: 23,889,835 (GRCm39) |
|
probably benign |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,770 (GRCm39) |
L29Q |
possibly damaging |
Het |
| Inpp5e |
G |
T |
2: 26,298,533 (GRCm39) |
Q23K |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,808,983 (GRCm39) |
S619P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
| Or51s1 |
T |
C |
7: 102,558,479 (GRCm39) |
H189R |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,903 (GRCm39) |
I143F |
probably benign |
Het |
| Pard6a |
T |
C |
8: 106,429,446 (GRCm39) |
S135P |
probably damaging |
Het |
| Prss43 |
G |
T |
9: 110,658,538 (GRCm39) |
Q279H |
probably benign |
Het |
| Ptcd2 |
T |
C |
13: 99,466,573 (GRCm39) |
N207D |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,070,986 (GRCm39) |
I23V |
probably benign |
Het |
| Scg5 |
A |
G |
2: 113,657,915 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
T |
A |
14: 31,101,347 (GRCm39) |
K212* |
probably null |
Het |
| Slc25a30 |
C |
T |
14: 76,004,365 (GRCm39) |
G244D |
possibly damaging |
Het |
| Slc38a10 |
T |
C |
11: 119,997,428 (GRCm39) |
R689G |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,142,037 (GRCm39) |
Y628F |
probably damaging |
Het |
| Wdr35 |
G |
A |
12: 9,069,900 (GRCm39) |
V813I |
probably benign |
Het |
|
| Other mutations in Spatc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02215:Spatc1
|
APN |
15 |
76,167,739 (GRCm39) |
splice site |
probably benign |
|
|
IGL02678:Spatc1
|
APN |
15 |
76,176,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Spatc1
|
UTSW |
15 |
76,152,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Spatc1
|
UTSW |
15 |
76,169,075 (GRCm39) |
splice site |
probably null |
|
|
R2066:Spatc1
|
UTSW |
15 |
76,167,737 (GRCm39) |
splice site |
probably null |
|
|
R2921:Spatc1
|
UTSW |
15 |
76,168,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Spatc1
|
UTSW |
15 |
76,152,495 (GRCm39) |
nonsense |
probably null |
|
|
R3690:Spatc1
|
UTSW |
15 |
76,152,495 (GRCm39) |
nonsense |
probably null |
|
|
R4519:Spatc1
|
UTSW |
15 |
76,176,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Spatc1
|
UTSW |
15 |
76,168,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Spatc1
|
UTSW |
15 |
76,167,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7034:Spatc1
|
UTSW |
15 |
76,168,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7036:Spatc1
|
UTSW |
15 |
76,168,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7436:Spatc1
|
UTSW |
15 |
76,152,568 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8510:Spatc1
|
UTSW |
15 |
76,176,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9675:Spatc1
|
UTSW |
15 |
76,152,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0023:Spatc1
|
UTSW |
15 |
76,152,572 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Spatc1
|
UTSW |
15 |
76,168,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2011-12-09 |
Incidental Mutation