Incidental Mutation 'R4453:Tssk5'
| ID |
329061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tssk5
|
| Ensembl Gene |
ENSMUSG00000060794 |
| Gene Name |
testis-specific serine kinase 5 |
| Synonyms |
1700091F14Rik |
| MMRRC Submission |
041152-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76256152-76259138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76258743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 48
(R48C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023213]
[ENSMUST00000071119]
|
| AlphaFold |
Q8C1R0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023213
|
| SMART Domains |
Protein: ENSMUSP00000023213
Gene: ENSMUSG00000022554
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
91 |
N/A |
INTRINSIC |
|
Pfam:DUF383
|
119 |
294 |
4e-57 |
PFAM |
|
Pfam:DUF384
|
299 |
353 |
6.2e-22 |
PFAM |
|
low complexity region
|
357 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071119
AA Change: R48C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071120
Gene: ENSMUSG00000060794
AA Change: R48C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
27 |
302 |
1.23e-82 |
SMART |
|
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230436
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
A |
G |
1: 93,322,075 (GRCm39) |
D361G |
probably damaging |
Het |
| Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
| Ccdc86 |
G |
T |
19: 10,925,883 (GRCm39) |
P239T |
probably damaging |
Het |
| Ces2h |
G |
A |
8: 105,741,288 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,379,190 (GRCm39) |
S43R |
probably damaging |
Het |
| Cpne6 |
G |
A |
14: 55,750,054 (GRCm39) |
V62M |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,642,664 (GRCm39) |
C161R |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,967 (GRCm39) |
S641P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Grm2 |
G |
A |
9: 106,531,078 (GRCm39) |
T137I |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,027,324 (GRCm39) |
V327A |
possibly damaging |
Het |
| Helz |
C |
T |
11: 107,563,455 (GRCm39) |
Q1631* |
probably null |
Het |
| Hspa1a |
A |
G |
17: 35,189,269 (GRCm39) |
Y545H |
probably benign |
Het |
| Hus1 |
A |
T |
11: 8,956,035 (GRCm39) |
M166K |
probably damaging |
Het |
| Kcnh1 |
C |
A |
1: 192,187,825 (GRCm39) |
T762K |
probably damaging |
Het |
| Limd1 |
C |
A |
9: 123,309,359 (GRCm39) |
Q353K |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,097,115 (GRCm39) |
K276I |
probably damaging |
Het |
| Ntpcr |
G |
A |
8: 126,462,929 (GRCm39) |
V49I |
probably benign |
Het |
| Or6c70 |
T |
C |
10: 129,710,530 (GRCm39) |
N32S |
probably null |
Het |
| Ppp1r1c |
A |
G |
2: 79,538,575 (GRCm39) |
I20V |
possibly damaging |
Het |
| Prdm13 |
G |
T |
4: 21,679,464 (GRCm39) |
A342E |
unknown |
Het |
| Prkd3 |
C |
A |
17: 79,290,975 (GRCm39) |
R180L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,099,274 (GRCm39) |
F1593L |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,603 (GRCm39) |
C95S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,272 (GRCm39) |
M1510V |
probably benign |
Het |
| Taf12 |
A |
G |
4: 132,010,306 (GRCm39) |
I92V |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Wwtr1 |
T |
C |
3: 57,482,680 (GRCm39) |
|
probably null |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,678 (GRCm39) |
T552S |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
probably benign |
Het |
|
| Other mutations in Tssk5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1447:Tssk5
|
UTSW |
15 |
76,256,304 (GRCm39) |
nonsense |
probably null |
|
|
R1543:Tssk5
|
UTSW |
15 |
76,256,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1649:Tssk5
|
UTSW |
15 |
76,258,003 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1907:Tssk5
|
UTSW |
15 |
76,257,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2391:Tssk5
|
UTSW |
15 |
76,258,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3729:Tssk5
|
UTSW |
15 |
76,257,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4497:Tssk5
|
UTSW |
15 |
76,256,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4576:Tssk5
|
UTSW |
15 |
76,256,668 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4621:Tssk5
|
UTSW |
15 |
76,256,668 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4623:Tssk5
|
UTSW |
15 |
76,256,668 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4967:Tssk5
|
UTSW |
15 |
76,258,856 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6109:Tssk5
|
UTSW |
15 |
76,257,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Tssk5
|
UTSW |
15 |
76,257,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6951:Tssk5
|
UTSW |
15 |
76,257,096 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7012:Tssk5
|
UTSW |
15 |
76,257,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Tssk5
|
UTSW |
15 |
76,258,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9284:Tssk5
|
UTSW |
15 |
76,257,168 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9339:Tssk5
|
UTSW |
15 |
76,257,156 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9496:Tssk5
|
UTSW |
15 |
76,258,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCAACTTCTCCACGGG -3'
(R):5'- ACAAGTCAGACCTCAGCTGC -3'
Sequencing Primer
(F):5'- TGAGCAAGCAATATCCTCGG -3'
(R):5'- CTGACGGGCAATAAGCTGGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation