Incidental Mutation 'IGL00696:Spats2'
| ID |
14203 |
| 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: 0.415)
|
| Stock # |
IGL00696
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99023797-99111096 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99108775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 375
(K375R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063517]
|
| AlphaFold |
Q8K1N4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063517
AA Change: K375R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: K375R
| 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 |
noncoding transcript
Transcript: ENSMUST00000229493
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,099,156 (GRCm39) |
E83G |
probably damaging |
Het |
| C1galt1 |
T |
C |
6: 7,866,475 (GRCm39) |
V107A |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,064 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,579 (GRCm39) |
S91P |
probably benign |
Het |
| Efl1 |
G |
A |
7: 82,301,080 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,443 (GRCm39) |
Y259C |
probably damaging |
Het |
| Inpp5b |
T |
G |
4: 124,636,328 (GRCm39) |
M1R |
probably null |
Het |
| Magea5 |
A |
G |
X: 153,836,432 (GRCm39) |
F320S |
possibly damaging |
Het |
| Megf8 |
A |
G |
7: 25,041,817 (GRCm39) |
I1244V |
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,094 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Spats2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Spats2
|
APN |
15 |
99,078,474 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
2012-12-06 |
Incidental Mutation