Mutagenetix > Incidental Mutation

Incidental Mutation 'R8841:Smok3c'

674409

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

068732-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R8841 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138051456-138064799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 138063537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 341 (D341E)

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: D341E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: D341E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178402
AA Change: D341E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: D341E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,143,925 (GRCm39)		probably benign	Het
Chaf1b	C	T	16: 93,701,908 (GRCm39)	T510I	probably benign	Het
Chrd	T	A	16: 20,554,487 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,393,580 (GRCm39)	Q11R	probably benign	Het
Dmrta1	A	C	4: 89,579,950 (GRCm39)	R303S	probably benign	Het
Emsy	A	G	7: 98,264,768 (GRCm39)	I543T	possibly damaging	Het
Fbxw2	G	A	2: 34,712,844 (GRCm39)		probably benign	Het
Fndc1	A	G	17: 7,992,181 (GRCm39)	V505A	unknown	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Fyb1	T	C	15: 6,681,972 (GRCm39)	V773A	probably damaging	Het
Gask1b	A	G	3: 79,794,426 (GRCm39)	E298G	probably benign	Het
Glp2r	G	T	11: 67,653,555 (GRCm39)	P77T	probably damaging	Het
Gpam	C	A	19: 55,066,950 (GRCm39)	D522Y	probably damaging	Het
Hpgd	T	A	8: 56,760,709 (GRCm39)	N135K	probably damaging	Het
Hsph1	T	A	5: 149,550,789 (GRCm39)	R437W	probably damaging	Het
Kif1c	G	A	11: 70,615,659 (GRCm39)	V588I	probably benign	Het
Klhdc4	T	A	8: 122,523,380 (GRCm39)	E554V	possibly damaging	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Lad1	A	G	1: 135,754,970 (GRCm39)	D82G	probably benign	Het
Lin7a	A	G	10: 107,218,524 (GRCm39)	R145G	possibly damaging	Het
Lmna	A	G	3: 88,391,920 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,628,188 (GRCm39)	V178A	probably benign	Het
Lrwd1	T	C	5: 136,152,037 (GRCm39)	R647G	possibly damaging	Het
Mapt	A	G	11: 104,201,203 (GRCm39)	E153G	probably damaging	Het
Mefv	C	T	16: 3,528,842 (GRCm39)	C563Y	probably benign	Het
Myo7b	T	C	18: 32,097,490 (GRCm39)	N1792S	probably benign	Het
Nkx6-3	C	T	8: 23,646,274 (GRCm39)	T148M	probably damaging	Het
Nomo1	T	A	7: 45,707,911 (GRCm39)	S573T	probably benign	Het
Ntrk3	G	T	7: 78,005,841 (GRCm39)	R507S	probably damaging	Het
Or2v2	A	C	11: 49,003,938 (GRCm39)	I205S	probably benign	Het
Or4k15	T	A	14: 50,364,666 (GRCm39)	F211I	probably damaging	Het
Or52e5	T	A	7: 104,719,479 (GRCm39)	N268K	possibly damaging	Het
Or6c200-ps1	A	G	10: 128,870,042 (GRCm39)	V223A	probably benign	Het
Or7e168	A	T	9: 19,719,885 (GRCm39)	R90S	probably benign	Het
Or8g21	A	G	9: 38,905,879 (GRCm39)	M284T	possibly damaging	Het
Pcdhb8	A	G	18: 37,488,699 (GRCm39)	I126V	probably benign	Het
Phactr4	A	G	4: 132,092,884 (GRCm39)		probably null	Het
Pign	T	C	1: 105,485,634 (GRCm39)		probably benign	Het
Plekhn1	A	G	4: 156,316,655 (GRCm39)	L342P	probably damaging	Het
Pomk	G	A	8: 26,476,407 (GRCm39)	A49V	probably benign	Het
Prss50	A	G	9: 110,687,480 (GRCm39)	D141G	probably benign	Het
Ralgps1	A	C	2: 33,045,329 (GRCm39)	F406L	probably benign	Het
Rexo5	G	A	7: 119,448,011 (GRCm39)	S752N	probably benign	Het
Rin3	A	T	12: 102,335,537 (GRCm39)	I483L	probably benign	Het
Scn1a	T	A	2: 66,156,466 (GRCm39)	D481V	probably benign	Het
Scnn1a	T	C	6: 125,320,208 (GRCm39)	I554T	probably damaging	Het
Shc2	A	G	10: 79,458,150 (GRCm39)	V511A	probably damaging	Het
Slc18a2	C	T	19: 59,261,713 (GRCm39)	S200F	probably damaging	Het
Slc25a38	A	G	9: 119,949,845 (GRCm39)	D208G	probably damaging	Het
Tfcp2	A	G	15: 100,410,989 (GRCm39)	I373T	probably damaging	Het
Tnpo3	T	A	6: 29,589,182 (GRCm39)	D56V	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ttll12	A	T	15: 83,465,993 (GRCm39)		probably benign	Het
Ulk4	A	G	9: 121,033,804 (GRCm39)	C612R	probably damaging	Het
Ush1g	G	T	11: 115,210,007 (GRCm39)	D62E	probably damaging	Het
Vmn2r124	A	G	17: 18,283,299 (GRCm39)	N331S		Het
Vmn2r4	T	C	3: 64,314,058 (GRCm39)	I308V	probably damaging	Het
Vwa8	T	A	14: 79,184,702 (GRCm39)	V400E	probably benign	Het
Washc2	A	G	6: 116,235,916 (GRCm39)	D1129G	probably benign	Het
Washc5	G	T	15: 59,206,971 (GRCm39)	Q1101K	probably damaging	Het
Wfdc17	G	T	11: 83,594,938 (GRCm39)	L7F	probably benign	Het
Xpo4	T	C	14: 57,835,413 (GRCm39)	K636R	probably damaging	Het
Zan	T	A	5: 137,454,936 (GRCm39)	T1367S	unknown	Het
Zfp691	A	T	4: 119,027,861 (GRCm39)	S124T	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
R8160:Smok3c	UTSW	5	138,063,286 (GRCm39)	missense	possibly damaging	0.91
R8223:Smok3c	UTSW	5	138,063,655 (GRCm39)	missense	probably benign	0.00
R8381:Smok3c	UTSW	5	138,063,824 (GRCm39)	missense	probably benign
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'- GCTGAGGTTATGGTGCATCC -3'
(R):5'- TGGGCCAACTGACTCTTCTG -3'

Sequencing Primer
(F):5'- TATGGTGCATCCCTGGGTCAC -3'
(R):5'- GCCAACTGACTCTTCTGTCTCTTTTC -3'

Posted On

2021-07-15