Incidental Mutation 'IGL01524:Spats2'
ID |
89510 |
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 # |
IGL01524
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
99023797-99111096 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 99110127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 508
(A508V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070549
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063517]
|
AlphaFold |
Q8K1N4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063517
AA Change: A508V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000070549 Gene: ENSMUSG00000051934 AA Change: A508V
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
A |
T |
8: 60,969,106 (GRCm39) |
D117V |
probably damaging |
Het |
Abca14 |
T |
C |
7: 119,852,644 (GRCm39) |
Y870H |
possibly damaging |
Het |
Ankrd36 |
T |
C |
11: 5,585,092 (GRCm39) |
I301T |
probably benign |
Het |
Atp10b |
T |
A |
11: 43,150,672 (GRCm39) |
S1457T |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,996,531 (GRCm39) |
D1081G |
possibly damaging |
Het |
Ccdc175 |
G |
A |
12: 72,177,916 (GRCm39) |
|
probably benign |
Het |
Ccdc93 |
A |
G |
1: 121,389,628 (GRCm39) |
K224E |
probably benign |
Het |
Cep131 |
C |
T |
11: 119,956,786 (GRCm39) |
A886T |
probably damaging |
Het |
Clip1 |
A |
C |
5: 123,717,442 (GRCm39) |
H1282Q |
probably damaging |
Het |
Ctcfl |
T |
G |
2: 172,959,177 (GRCm39) |
D183A |
probably benign |
Het |
Cyp17a1 |
C |
T |
19: 46,659,495 (GRCm39) |
V112I |
probably benign |
Het |
Fhod3 |
T |
C |
18: 25,263,659 (GRCm39) |
I1521T |
probably damaging |
Het |
Gipc2 |
A |
G |
3: 151,843,214 (GRCm39) |
I141T |
probably damaging |
Het |
Glo1 |
T |
C |
17: 30,815,393 (GRCm39) |
R141G |
possibly damaging |
Het |
Ipmk |
C |
A |
10: 71,208,631 (GRCm39) |
A140E |
probably damaging |
Het |
Kynu |
A |
G |
2: 43,561,394 (GRCm39) |
D310G |
possibly damaging |
Het |
Myo1f |
T |
A |
17: 33,798,857 (GRCm39) |
I174N |
probably damaging |
Het |
Nat10 |
T |
A |
2: 103,588,102 (GRCm39) |
N8Y |
probably damaging |
Het |
Nhlrc2 |
A |
G |
19: 56,564,587 (GRCm39) |
I304V |
probably benign |
Het |
Pdk4 |
T |
C |
6: 5,491,979 (GRCm39) |
H31R |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,505,995 (GRCm39) |
V644A |
possibly damaging |
Het |
Slc30a4 |
T |
A |
2: 122,544,308 (GRCm39) |
K11N |
possibly damaging |
Het |
Slc6a3 |
T |
C |
13: 73,686,668 (GRCm39) |
S12P |
probably benign |
Het |
Tinag |
A |
G |
9: 76,952,820 (GRCm39) |
Y55H |
probably damaging |
Het |
Topbp1 |
T |
C |
9: 103,188,844 (GRCm39) |
I172T |
possibly damaging |
Het |
Trim17 |
A |
G |
11: 58,861,423 (GRCm39) |
T279A |
probably damaging |
Het |
Vmn1r216 |
C |
A |
13: 23,283,519 (GRCm39) |
N67K |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,411,996 (GRCm39) |
L709P |
probably benign |
Het |
Xdh |
T |
C |
17: 74,230,132 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
C |
T |
3: 5,309,036 (GRCm39) |
P754L |
probably damaging |
Het |
Zfp267 |
T |
C |
3: 36,218,729 (GRCm39) |
Y251H |
possibly damaging |
Het |
Zfp623 |
C |
A |
15: 75,819,528 (GRCm39) |
S161R |
probably benign |
Het |
Zmat3 |
G |
A |
3: 32,395,827 (GRCm39) |
R227C |
possibly damaging |
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 |
IGL00696:Spats2
|
APN |
15 |
99,108,775 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-12-03 |