Incidental Mutation 'R8160:Smok3c'
| ID |
633470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smok3c
|
| Ensembl Gene |
ENSMUSG00000075598 |
| Gene Name |
sperm motility kinase 3C |
| Synonyms |
EG622486 |
| MMRRC Submission |
067586-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.535)
|
| Stock # |
R8160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138053194-138066537 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138065024 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 258
(T258A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110967]
[ENSMUST00000178402]
|
| AlphaFold |
A0A087WSF2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110967
AA Change: T258A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: T258A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
28 |
276 |
2.88e-97 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178402
AA Change: T258A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: T258A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
28 |
276 |
2.88e-97 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
C |
T |
7: 133,968,041 (GRCm38) |
|
probably null |
Het |
| Aldh8a1 |
A |
G |
10: 21,395,791 (GRCm38) |
D472G |
possibly damaging |
Het |
| Appl1 |
T |
C |
14: 26,928,635 (GRCm38) |
I527V |
probably benign |
Het |
| Arhgef4 |
C |
A |
1: 34,723,574 (GRCm38) |
T637K |
unknown |
Het |
| Atp7b |
G |
A |
8: 21,997,559 (GRCm38) |
A1273V |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,117,822 (GRCm38) |
S35T |
|
Het |
| Cdh24 |
C |
A |
14: 54,638,489 (GRCm38) |
V208F |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,270,805 (GRCm38) |
Q1055L |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,147,347 (GRCm38) |
R1009Q |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,813,762 (GRCm38) |
V58E |
probably benign |
Het |
| Fam208a |
T |
A |
14: 27,449,956 (GRCm38) |
N420K |
probably damaging |
Het |
| Fam209 |
A |
T |
2: 172,472,725 (GRCm38) |
I45F |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 106,896,033 (GRCm38) |
Y579C |
probably null |
Het |
| Hipk4 |
C |
T |
7: 27,523,761 (GRCm38) |
A82V |
possibly damaging |
Het |
| Il17rc |
A |
G |
6: 113,476,528 (GRCm38) |
Y223C |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,818,558 (GRCm38) |
R397H |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,613,919 (GRCm38) |
M744K |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,817,679 (GRCm38) |
V568A |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,606,081 (GRCm38) |
Q422* |
probably null |
Het |
| Mvb12b |
G |
T |
2: 33,840,222 (GRCm38) |
D81E |
probably benign |
Het |
| Nostrin |
A |
T |
2: 69,179,466 (GRCm38) |
I313F |
probably damaging |
Het |
| Nsun6 |
A |
G |
2: 15,009,408 (GRCm38) |
|
probably null |
Het |
| Nt5dc1 |
T |
A |
10: 34,324,396 (GRCm38) |
E209V |
possibly damaging |
Het |
| Oasl2 |
T |
C |
5: 114,901,286 (GRCm38) |
|
probably benign |
Het |
| Olfr303 |
C |
T |
7: 86,395,265 (GRCm38) |
V78M |
possibly damaging |
Het |
| Olfr517 |
C |
T |
7: 108,868,788 (GRCm38) |
R122Q |
possibly damaging |
Het |
| Olfr857 |
T |
A |
9: 19,712,789 (GRCm38) |
|
probably benign |
Het |
| Ppm1h |
A |
T |
10: 122,802,436 (GRCm38) |
T204S |
probably benign |
Het |
| Rad51b |
T |
A |
12: 79,303,341 (GRCm38) |
L70I |
probably benign |
Het |
| Snai2 |
T |
C |
16: 14,706,804 (GRCm38) |
V58A |
possibly damaging |
Het |
| Spata48 |
T |
C |
11: 11,487,734 (GRCm38) |
S246P |
unknown |
Het |
| St6galnac1 |
G |
A |
11: 116,775,490 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Smok3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4440:Smok3c
|
UTSW |
5 |
138,064,604 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4560:Smok3c
|
UTSW |
5 |
138,064,484 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4900:Smok3c
|
UTSW |
5 |
138,064,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4924:Smok3c
|
UTSW |
5 |
138,065,582 (GRCm38) |
nonsense |
probably null |
|
|
R5292:Smok3c
|
UTSW |
5 |
138,065,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5446:Smok3c
|
UTSW |
5 |
138,064,633 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6111:Smok3c
|
UTSW |
5 |
138,065,103 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6154:Smok3c
|
UTSW |
5 |
138,064,485 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6225:Smok3c
|
UTSW |
5 |
138,065,052 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6759:Smok3c
|
UTSW |
5 |
138,065,437 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6979:Smok3c
|
UTSW |
5 |
138,064,725 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7127:Smok3c
|
UTSW |
5 |
138,064,709 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7260:Smok3c
|
UTSW |
5 |
138,065,623 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7445:Smok3c
|
UTSW |
5 |
138,064,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7962:Smok3c
|
UTSW |
5 |
138,065,079 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8223:Smok3c
|
UTSW |
5 |
138,065,393 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8381:Smok3c
|
UTSW |
5 |
138,065,562 (GRCm38) |
missense |
probably benign |
|
|
R8841:Smok3c
|
UTSW |
5 |
138,065,275 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9166:Smok3c
|
UTSW |
5 |
138,065,519 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9369:Smok3c
|
UTSW |
5 |
138,065,508 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Smok3c
|
UTSW |
5 |
138,064,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCAAGATCGATGTATGG -3'
(R):5'- TTCAGTAGACAATAAGACGCCATGG -3'
Sequencing Primer
(F):5'- CCCAAGATCGATGTATGGACTCTTG -3'
(R):5'- CGTAACGAATCTTCAATATCTTGAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation