Mutagenetix > Incidental Mutation

Incidental Mutation 'R4440:Smok3c'

329718

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

041705-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R4440 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

138051456-138064799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138062866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 118 (Y118N)

Ref Sequence

ENSEMBL: ENSMUSP00000140749 (fasta)

Gene Model

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

AlphaFold

A0A087WSF2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110967
AA Change: Y118N

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: Y118N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178402
AA Change: Y118N

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: Y118N

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (46/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	G	T	2: 168,026,721 (GRCm39)	H191Q	possibly damaging	Het
Afdn	T	C	17: 14,071,152 (GRCm39)	W782R	probably damaging	Het
Alpl	A	T	4: 137,475,124 (GRCm39)	W270R	probably damaging	Het
Angpt4	G	T	2: 151,786,566 (GRCm39)	G508C	probably damaging	Het
Armc8	T	A	9: 99,366,087 (GRCm39)	H609L	probably benign	Het
Atg2a	T	C	19: 6,305,859 (GRCm39)		probably null	Het
Bicdl2	C	T	17: 23,886,590 (GRCm39)	A393V	probably benign	Het
C6	A	T	15: 4,764,733 (GRCm39)	K143M	possibly damaging	Het
Cfc1	T	A	1: 34,583,183 (GRCm39)		probably benign	Het
Ctnna3	A	G	10: 64,096,714 (GRCm39)	I417M	probably benign	Het
Dnhd1	G	A	7: 105,345,935 (GRCm39)	W2307*	probably null	Het
Dpysl5	T	C	5: 30,949,612 (GRCm39)	F461L	probably damaging	Het
Fip1l1	T	C	5: 74,697,446 (GRCm39)		probably benign	Het
Fpgs	C	T	2: 32,577,513 (GRCm39)	C219Y	probably damaging	Het
Fsip2	A	G	2: 82,821,550 (GRCm39)	D5761G	possibly damaging	Het
Hdac4	C	A	1: 91,873,717 (GRCm39)	G957C	probably damaging	Het
Klhl8	A	G	5: 104,015,433 (GRCm39)	I421T	probably benign	Het
Kntc1	T	C	5: 123,932,216 (GRCm39)	C1337R	probably damaging	Het
Lpin3	A	G	2: 160,740,565 (GRCm39)	N370S	probably benign	Het
Man2a2	C	A	7: 80,001,463 (GRCm39)	R1148L	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Nav2	C	T	7: 49,201,785 (GRCm39)	T1453I	possibly damaging	Het
Nav2	A	G	7: 49,225,011 (GRCm39)		probably benign	Het
Ndufaf5	T	A	2: 140,012,645 (GRCm39)	V5D	probably benign	Het
Nipbl	G	C	15: 8,396,142 (GRCm39)	Q144E	probably damaging	Het
Ntrk2	G	C	13: 59,208,126 (GRCm39)	Q657H	probably damaging	Het
Or4a75	G	T	2: 89,448,512 (GRCm39)	T8K	probably damaging	Het
Or4c107	G	A	2: 88,789,685 (GRCm39)	E292K	probably benign	Het
Polr1a	A	G	6: 71,927,832 (GRCm39)	D861G	probably damaging	Het
Pramel15	A	T	4: 144,099,437 (GRCm39)	F443I	probably benign	Het
Pwwp2b	T	C	7: 138,835,555 (GRCm39)	I332T	probably benign	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Slc14a2	A	G	18: 78,238,962 (GRCm39)	V219A	probably benign	Het
Slc7a2	T	C	8: 41,355,686 (GRCm39)	I245T	probably benign	Het
Taok2	C	T	7: 126,465,693 (GRCm39)	R367Q	possibly damaging	Het
Tbl1xr1	A	G	3: 22,254,752 (GRCm39)		probably null	Het
Tbr1	A	T	2: 61,635,182 (GRCm39)	D44V	possibly damaging	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Vmn1r231	T	C	17: 21,110,718 (GRCm39)	R66G	possibly damaging	Het
Xab2	T	C	8: 3,666,353 (GRCm39)	E185G	probably benign	Het

Other mutations in Smok3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- CACTCATGTGGCTGTCAAAACC -3'
(R):5'- GGAGCACTAAATGGGTAAGTCC -3'

Sequencing Primer
(F):5'- GTGGCTGTCAAAACCATTCAAAAG -3'
(R):5'- CCCACAGAATAAGTTGAGTTTTTGCC -3'

Posted On

2015-07-21