Incidental Mutation 'IGL00093:Spats2'
| ID |
887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spats2
|
| Ensembl Gene |
ENSMUSG00000051934 |
| Gene Name |
spermatogenesis associated, serine-rich 2 |
| Synonyms |
p59, 59kDa, 2700012F11Rik, Scr59 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.364)
|
| Stock # |
IGL00093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99023797-99111096 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99078474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 179
(E179G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063517]
[ENSMUST00000229066]
[ENSMUST00000229073]
[ENSMUST00000229147]
[ENSMUST00000230628]
|
| AlphaFold |
Q8K1N4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063517
AA Change: E179G
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: E179G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1387
|
81 |
385 |
8.1e-125 |
PFAM |
|
low complexity region
|
391 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229066
AA Change: E148G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229073
AA Change: E148G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229147
AA Change: E179G
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230628
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
C |
16: 21,472,310 (GRCm39) |
D60G |
probably damaging |
Het |
| Abca2 |
T |
A |
2: 25,335,975 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
T |
10: 61,065,455 (GRCm39) |
R348H |
probably damaging |
Het |
| Aimp2 |
A |
T |
5: 143,843,524 (GRCm39) |
I22N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,653,405 (GRCm39) |
|
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,860,575 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,022,433 (GRCm39) |
V263A |
probably benign |
Het |
| Cldn6 |
T |
A |
17: 23,900,698 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,450,130 (GRCm39) |
M30V |
probably benign |
Het |
| Dcaf17 |
G |
A |
2: 70,908,503 (GRCm39) |
E243K |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,669,836 (GRCm39) |
Y257H |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,788,759 (GRCm39) |
G274E |
probably benign |
Het |
| Dzank1 |
A |
T |
2: 144,323,645 (GRCm39) |
Y600* |
probably null |
Het |
| Flvcr1 |
T |
A |
1: 190,747,686 (GRCm39) |
R201* |
probably null |
Het |
| Fstl4 |
G |
A |
11: 53,077,102 (GRCm39) |
V620I |
probably benign |
Het |
| Gm21976 |
G |
A |
13: 98,439,069 (GRCm39) |
V20M |
probably benign |
Het |
| Ifi208 |
T |
C |
1: 173,506,604 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,263,738 (GRCm39) |
V674A |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,035,378 (GRCm39) |
Y612* |
probably null |
Het |
| Marco |
A |
G |
1: 120,413,432 (GRCm39) |
V295A |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,150,162 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,779,075 (GRCm39) |
L41P |
probably damaging |
Het |
| Or51a42 |
T |
C |
7: 103,708,623 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or6c217 |
T |
A |
10: 129,738,528 (GRCm39) |
D17V |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,911,971 (GRCm39) |
M245T |
unknown |
Het |
| Pomt1 |
A |
G |
2: 32,131,784 (GRCm39) |
I158V |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,646,727 (GRCm39) |
W967R |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,875,533 (GRCm39) |
M270K |
possibly damaging |
Het |
| Tapbp |
T |
C |
17: 34,138,866 (GRCm39) |
V11A |
probably benign |
Het |
| Tasor |
T |
G |
14: 27,170,163 (GRCm39) |
L364R |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,522,696 (GRCm39) |
F185S |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,198 (GRCm39) |
I901V |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,171,332 (GRCm39) |
N371S |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,854 (GRCm39) |
V433D |
probably damaging |
Het |
| Wasf3 |
G |
A |
5: 146,392,461 (GRCm39) |
R177Q |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,173 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,738 (GRCm39) |
I194T |
probably damaging |
Het |
|
| Other mutations in Spats2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00696:Spats2
|
APN |
15 |
99,108,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01524:Spats2
|
APN |
15 |
99,110,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02496:Spats2
|
APN |
15 |
99,071,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03031:Spats2
|
APN |
15 |
99,078,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0067:Spats2
|
UTSW |
15 |
99,110,168 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0067:Spats2
|
UTSW |
15 |
99,110,168 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0630:Spats2
|
UTSW |
15 |
99,083,909 (GRCm39) |
splice site |
probably null |
|
|
R1577:Spats2
|
UTSW |
15 |
99,076,333 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2012:Spats2
|
UTSW |
15 |
99,076,375 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2229:Spats2
|
UTSW |
15 |
99,072,334 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2982:Spats2
|
UTSW |
15 |
99,108,927 (GRCm39) |
missense |
probably benign |
|
|
R3743:Spats2
|
UTSW |
15 |
99,108,795 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4679:Spats2
|
UTSW |
15 |
99,078,603 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4857:Spats2
|
UTSW |
15 |
99,072,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Spats2
|
UTSW |
15 |
99,110,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5291:Spats2
|
UTSW |
15 |
99,076,422 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6879:Spats2
|
UTSW |
15 |
99,071,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Spats2
|
UTSW |
15 |
99,110,054 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7476:Spats2
|
UTSW |
15 |
99,110,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8084:Spats2
|
UTSW |
15 |
99,064,961 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8239:Spats2
|
UTSW |
15 |
99,106,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Spats2
|
UTSW |
15 |
99,076,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Spats2
|
UTSW |
15 |
99,110,123 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9013:Spats2
|
UTSW |
15 |
99,097,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9050:Spats2
|
UTSW |
15 |
99,110,010 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9433:Spats2
|
UTSW |
15 |
99,076,446 (GRCm39) |
nonsense |
probably null |
|
|
X0062:Spats2
|
UTSW |
15 |
99,076,413 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation