Incidental Mutation 'IGL03091:Tsks'
| ID |
418393 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tsks
|
| Ensembl Gene |
ENSMUSG00000059891 |
| Gene Name |
testis-specific serine kinase substrate |
| Synonyms |
clone 4, Tsks, Tssks1, Stk22s1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44592628-44607459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44607319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 547
(M547I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063761]
[ENSMUST00000080233]
[ENSMUST00000120929]
[ENSMUST00000212836]
|
| AlphaFold |
O54887 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063761
|
| SMART Domains |
Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPT_N
|
1 |
47 |
2.3e-21 |
PFAM |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
Pfam:Carn_acyltransf
|
171 |
757 |
7.7e-167 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080233
|
| SMART Domains |
Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSKS
|
26 |
525 |
5.7e-281 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120929
AA Change: M547I
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891
AA Change: M547I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSKS
|
26 |
585 |
8.1e-297 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208475
AA Change: V173M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212217
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212890
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is a member of a small family of testis-specific serine/threonine kinases. This gene may play a role in testicular physiology or spermiogenesis. Its expression is restricted to the testis during the last stages of spermatid maturation. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
A |
T |
4: 126,352,982 (GRCm39) |
Y314N |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,219 (GRCm39) |
T78A |
possibly damaging |
Het |
| Arhgap33 |
G |
A |
7: 30,227,718 (GRCm39) |
P494S |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,943,022 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,691,386 (GRCm39) |
V174A |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,470,863 (GRCm39) |
R811C |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,016,897 (GRCm39) |
H598Q |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,041,228 (GRCm39) |
S211L |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,119,955 (GRCm39) |
M852L |
probably benign |
Het |
| Fmc1 |
G |
T |
6: 38,516,170 (GRCm39) |
S72I |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,951 (GRCm39) |
C302R |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,786,615 (GRCm39) |
T184A |
possibly damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,542,828 (GRCm39) |
T29I |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,721,307 (GRCm39) |
|
probably null |
Het |
| Lipe |
A |
G |
7: 25,080,180 (GRCm39) |
L926P |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,993 (GRCm39) |
I2511F |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,992,725 (GRCm39) |
S294P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,161,324 (GRCm39) |
H2156L |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,885,951 (GRCm39) |
N335K |
probably damaging |
Het |
| Nox3 |
G |
T |
17: 3,716,119 (GRCm39) |
Q429K |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,441,076 (GRCm39) |
Y102* |
probably null |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,564 (GRCm39) |
R1671G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,503 (GRCm39) |
T504A |
possibly damaging |
Het |
| Pou5f1 |
G |
T |
17: 35,820,939 (GRCm39) |
R127L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,523,174 (GRCm39) |
|
probably benign |
Het |
| Rassf8 |
T |
A |
6: 145,761,536 (GRCm39) |
N287K |
probably benign |
Het |
| Rdh16 |
T |
C |
10: 127,649,502 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,782,911 (GRCm39) |
A1901V |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,906 (GRCm39) |
Y343C |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,538,880 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,034,791 (GRCm39) |
V310M |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,646,222 (GRCm39) |
I477F |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,195,786 (GRCm39) |
H548Q |
probably benign |
Het |
| Tuba8 |
G |
A |
6: 121,197,403 (GRCm39) |
E22K |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,438,968 (GRCm39) |
F364L |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,724 (GRCm39) |
Y608H |
probably damaging |
Het |
|
| Other mutations in Tsks |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Tsks
|
APN |
7 |
44,601,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Tsks
|
APN |
7 |
44,600,198 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03065:Tsks
|
APN |
7 |
44,592,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Tsks
|
UTSW |
7 |
44,603,883 (GRCm39) |
missense |
probably benign |
|
|
R0619:Tsks
|
UTSW |
7 |
44,600,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:Tsks
|
UTSW |
7 |
44,601,309 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4273:Tsks
|
UTSW |
7 |
44,607,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Tsks
|
UTSW |
7 |
44,593,418 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5664:Tsks
|
UTSW |
7 |
44,603,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:Tsks
|
UTSW |
7 |
44,593,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Tsks
|
UTSW |
7 |
44,603,263 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6567:Tsks
|
UTSW |
7 |
44,603,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7044:Tsks
|
UTSW |
7 |
44,593,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7255:Tsks
|
UTSW |
7 |
44,602,112 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7845:Tsks
|
UTSW |
7 |
44,603,168 (GRCm39) |
splice site |
probably null |
|
|
R8073:Tsks
|
UTSW |
7 |
44,607,305 (GRCm39) |
missense |
probably benign |
|
|
R8162:Tsks
|
UTSW |
7 |
44,603,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8307:Tsks
|
UTSW |
7 |
44,607,086 (GRCm39) |
missense |
|
|
|
R8340:Tsks
|
UTSW |
7 |
44,602,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Tsks
|
UTSW |
7 |
44,600,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Tsks
|
UTSW |
7 |
44,592,694 (GRCm39) |
intron |
probably benign |
|
|
R9438:Tsks
|
UTSW |
7 |
44,607,095 (GRCm39) |
nonsense |
probably null |
|
|
R9623:Tsks
|
UTSW |
7 |
44,605,931 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2016-08-02 |
Incidental Mutation