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: 0.700)
|
Stock # |
R8160 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
138051456-138064799 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 138063286 bp (GRCm39)
|
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: 133,569,770 (GRCm39) |
|
probably null |
Het |
Aldh8a1 |
A |
G |
10: 21,271,690 (GRCm39) |
D472G |
possibly damaging |
Het |
Appl1 |
T |
C |
14: 26,650,592 (GRCm39) |
I527V |
probably benign |
Het |
Arhgef4 |
C |
A |
1: 34,762,655 (GRCm39) |
T637K |
unknown |
Het |
Atp7b |
G |
A |
8: 22,487,575 (GRCm39) |
A1273V |
probably damaging |
Het |
Ccl20 |
T |
A |
1: 83,095,543 (GRCm39) |
S35T |
|
Het |
Cdh24 |
C |
A |
14: 54,875,946 (GRCm39) |
V208F |
probably damaging |
Het |
Dchs2 |
A |
T |
3: 83,178,112 (GRCm39) |
Q1055L |
probably benign |
Het |
Dock8 |
G |
A |
19: 25,124,711 (GRCm39) |
R1009Q |
probably damaging |
Het |
Ext2 |
A |
T |
2: 93,644,107 (GRCm39) |
V58E |
probably benign |
Het |
Fam209 |
A |
T |
2: 172,314,645 (GRCm39) |
I45F |
possibly damaging |
Het |
Hfm1 |
T |
C |
5: 107,043,899 (GRCm39) |
Y579C |
probably null |
Het |
Hipk4 |
C |
T |
7: 27,223,186 (GRCm39) |
A82V |
possibly damaging |
Het |
Il17rc |
A |
G |
6: 113,453,489 (GRCm39) |
Y223C |
possibly damaging |
Het |
Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
Kdm5b |
T |
A |
1: 134,541,657 (GRCm39) |
M744K |
probably damaging |
Het |
Mettl16 |
T |
C |
11: 74,708,505 (GRCm39) |
V568A |
probably damaging |
Het |
Mink1 |
C |
T |
11: 70,496,907 (GRCm39) |
Q422* |
probably null |
Het |
Mvb12b |
G |
T |
2: 33,730,234 (GRCm39) |
D81E |
probably benign |
Het |
Nostrin |
A |
T |
2: 69,009,810 (GRCm39) |
I313F |
probably damaging |
Het |
Nsun6 |
A |
G |
2: 15,014,219 (GRCm39) |
|
probably null |
Het |
Nt5dc1 |
T |
A |
10: 34,200,392 (GRCm39) |
E209V |
possibly damaging |
Het |
Oasl2 |
T |
C |
5: 115,039,347 (GRCm39) |
|
probably benign |
Het |
Or10a49 |
C |
T |
7: 108,467,995 (GRCm39) |
R122Q |
possibly damaging |
Het |
Or6aa1 |
C |
T |
7: 86,044,473 (GRCm39) |
V78M |
possibly damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,085 (GRCm39) |
|
probably benign |
Het |
Ppm1h |
A |
T |
10: 122,638,341 (GRCm39) |
T204S |
probably benign |
Het |
Rad51b |
T |
A |
12: 79,350,115 (GRCm39) |
L70I |
probably benign |
Het |
Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
Spmip7 |
T |
C |
11: 11,437,734 (GRCm39) |
S246P |
unknown |
Het |
St6galnac1 |
G |
A |
11: 116,666,316 (GRCm39) |
|
probably benign |
Het |
Tasor |
T |
A |
14: 27,171,913 (GRCm39) |
N420K |
probably damaging |
Het |
|
Other mutations in Smok3c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R4440:Smok3c
|
UTSW |
5 |
138,062,866 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4560:Smok3c
|
UTSW |
5 |
138,062,746 (GRCm39) |
missense |
probably benign |
0.42 |
R4900:Smok3c
|
UTSW |
5 |
138,062,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R4924:Smok3c
|
UTSW |
5 |
138,063,844 (GRCm39) |
nonsense |
probably null |
|
R5292:Smok3c
|
UTSW |
5 |
138,063,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R5446:Smok3c
|
UTSW |
5 |
138,062,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R6111:Smok3c
|
UTSW |
5 |
138,063,365 (GRCm39) |
missense |
probably damaging |
0.98 |
R6154:Smok3c
|
UTSW |
5 |
138,062,747 (GRCm39) |
missense |
probably benign |
0.04 |
R6225:Smok3c
|
UTSW |
5 |
138,063,314 (GRCm39) |
missense |
probably benign |
0.15 |
R6759:Smok3c
|
UTSW |
5 |
138,063,699 (GRCm39) |
missense |
probably benign |
0.04 |
R6979:Smok3c
|
UTSW |
5 |
138,062,987 (GRCm39) |
missense |
probably benign |
0.12 |
R7127:Smok3c
|
UTSW |
5 |
138,062,971 (GRCm39) |
missense |
probably damaging |
0.96 |
R7260:Smok3c
|
UTSW |
5 |
138,063,885 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7445:Smok3c
|
UTSW |
5 |
138,062,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R7962:Smok3c
|
UTSW |
5 |
138,063,341 (GRCm39) |
missense |
probably damaging |
0.98 |
R8223:Smok3c
|
UTSW |
5 |
138,063,655 (GRCm39) |
missense |
probably benign |
0.00 |
R8381:Smok3c
|
UTSW |
5 |
138,063,824 (GRCm39) |
missense |
probably benign |
|
R8841:Smok3c
|
UTSW |
5 |
138,063,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R9166:Smok3c
|
UTSW |
5 |
138,063,781 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9369:Smok3c
|
UTSW |
5 |
138,063,770 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Smok3c
|
UTSW |
5 |
138,062,864 (GRCm39) |
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 |