Mutagenetix > Incidental Mutation

Incidental Mutation 'R7127:Smok3c'

552384

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138053194-138066537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138064709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 153 (I153F)

Ref Sequence

ENSEMBL: ENSMUSP00000141020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110967] [ENSMUST00000178402]

AlphaFold

A0A087WSF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000110967
AA Change: I153F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: I153F

Domain	Start	End	E-Value	Type
S_TKc	28	276	2.88e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178402
AA Change: I153F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: I153F

Domain	Start	End	E-Value	Type
S_TKc	28	276	2.88e-97	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,945	F830L	possibly damaging	Het
Abca15	C	T	7: 120,332,602	T26I	probably benign	Het
Adam5	A	T	8: 24,810,781	I244N	probably damaging	Het
Adam7	A	G	14: 68,514,769		probably null	Het
Aox4	T	A	1: 58,228,874	N204K	probably benign	Het
Arl13b	C	T	16: 62,801,739	G397D	probably damaging	Het
AU041133	T	C	10: 82,150,866	F118L	probably benign	Het
Brinp1	C	T	4: 68,793,023	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,436,330	V268I	probably benign	Het
Car15	T	C	16: 17,838,196		probably benign	Het
Ccdc185	G	T	1: 182,748,856	D89E	possibly damaging	Het
Cckar	T	A	5: 53,706,475	Y48F	probably damaging	Het
Cdyl	T	A	13: 35,856,668	S282T	probably benign	Het
Clca1	T	C	3: 145,006,045	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,465,782	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,323,928	F24S	probably damaging	Het
Duox2	C	T	2: 122,291,949	G565D	probably benign	Het
Ehbp1	A	T	11: 22,053,529	Y1073*	probably null	Het
Epg5	A	T	18: 78,028,925	N2384I	probably damaging	Het
Fam171b	A	G	2: 83,879,766	D594G	probably benign	Het
Flad1	A	G	3: 89,403,418	Y441H	probably damaging	Het
Fn1	T	C	1: 71,597,544	T2150A	probably benign	Het
Fnta	C	A	8: 26,007,203	R206L	probably damaging	Het
Gadd45b	A	T	10: 80,931,165	M95L	probably benign	Het
Gbp8	A	T	5: 105,017,712	H358Q	probably benign	Het
Glipr1l3	C	A	10: 112,148,090	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,921,468	I94T	possibly damaging	Het
Hunk	A	G	16: 90,475,891	D361G	probably damaging	Het
Igkv3-4	T	A	6: 70,672,171	Y51*	probably null	Het
Kif26a	C	T	12: 112,178,145	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,324,315	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,812,963	V413A	probably damaging	Het
Med6	C	T	12: 81,589,000	R86Q	probably damaging	Het
Myrf	A	T	19: 10,215,341	S605T	probably benign	Het
Olfr792	T	A	10: 129,541,067	C177S	probably damaging	Het
Plk3	A	T	4: 117,130,570	V429E	probably benign	Het
Plrg1	C	T	3: 83,059,915	P131L	probably damaging	Het
Plscr4	C	T	9: 92,490,778	R318*	probably null	Het
Rab34	A	T	11: 78,191,230	K152*	probably null	Het
Rasef	A	T	4: 73,744,132	S194T	probably damaging	Het
Rcc1	A	G	4: 132,334,796	S269P	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scin	A	G	12: 40,105,072	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,597,470	M1V	probably null	Het
Spen	G	A	4: 141,476,108	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,449,512	M155K	probably benign	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sun2	T	C	15: 79,727,899	I528M	probably benign	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Taok2	G	T	7: 126,867,154	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,434,805	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,054,959	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,860,260	L696H	probably damaging	Het
Trank1	T	G	9: 111,365,796	S963A	possibly damaging	Het
Trf	A	G	9: 103,225,127	V184A	probably benign	Het
Ttll13	T	A	7: 80,253,658	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,951,574	T41P	probably benign	Het
Zfhx4	A	G	3: 5,413,044	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,475,429	H540Y	probably damaging	Het

Other mutations in Smok3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4440:Smok3c	UTSW	5	138064604	missense	possibly damaging	0.93
R4560:Smok3c	UTSW	5	138064484	missense	probably benign	0.42
R4900:Smok3c	UTSW	5	138064551	missense	probably damaging	1.00
R4924:Smok3c	UTSW	5	138065582	nonsense	probably null
R5292:Smok3c	UTSW	5	138065184	missense	probably damaging	1.00
R5446:Smok3c	UTSW	5	138064633	missense	probably damaging	1.00
R6111:Smok3c	UTSW	5	138065103	missense	probably damaging	0.98
R6154:Smok3c	UTSW	5	138064485	missense	probably benign	0.04
R6225:Smok3c	UTSW	5	138065052	missense	probably benign	0.15
R6759:Smok3c	UTSW	5	138065437	missense	probably benign	0.04
R6979:Smok3c	UTSW	5	138064725	missense	probably benign	0.12
R7260:Smok3c	UTSW	5	138065623	missense	possibly damaging	0.84
R7445:Smok3c	UTSW	5	138064495	missense	probably damaging	1.00
R7962:Smok3c	UTSW	5	138065079	missense	probably damaging	0.98
R8160:Smok3c	UTSW	5	138065024	missense	possibly damaging	0.91
R8223:Smok3c	UTSW	5	138065393	missense	probably benign	0.00
R8381:Smok3c	UTSW	5	138065562	missense	probably benign
R8841:Smok3c	UTSW	5	138065275	missense	probably damaging	0.99
R9166:Smok3c	UTSW	5	138065519	missense	possibly damaging	0.61
R9369:Smok3c	UTSW	5	138065508	missense	probably damaging	0.98
Z1177:Smok3c	UTSW	5	138064602	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCGATCATCCAAATGTCATC -3'
(R):5'- GCATCAAACGGGATCTTTCC -3'

Sequencing Primer
(F):5'- TTGAGACCAAGAAGAAAGTATACCTC -3'
(R):5'- TACAACACAACTCCAAGAGTCCATAC -3'

Posted On

2019-05-15