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: 0.535) question?

Stock #

R4440 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

138053194-138066537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138064604 bp (GRCm38)

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: 168,184,801	H191Q	possibly damaging	Het
Afdn	T	C	17: 13,850,890	W782R	probably damaging	Het
Alpl	A	T	4: 137,747,813	W270R	probably damaging	Het
Angpt4	G	T	2: 151,944,646	G508C	probably damaging	Het
Armc8	T	A	9: 99,484,034	H609L	probably benign	Het
Atg2a	T	C	19: 6,255,829		probably null	Het
Bicdl2	C	T	17: 23,667,616	A393V	probably benign	Het
C6	A	T	15: 4,735,251	K143M	possibly damaging	Het
Cfc1	T	A	1: 34,544,102		probably benign	Het
Ctnna3	A	G	10: 64,260,935	I417M	probably benign	Het
Dnhd1	G	A	7: 105,696,728	W2307*	probably null	Het
Dpysl5	T	C	5: 30,792,268	F461L	probably damaging	Het
Elmsan1	C	T	12: 84,156,471	G886S	probably benign	Het
Fip1l1	T	C	5: 74,536,785		probably benign	Het
Fpgs	C	T	2: 32,687,501	C219Y	probably damaging	Het
Fsip2	A	G	2: 82,991,206	D5761G	possibly damaging	Het
Hdac4	C	A	1: 91,945,995	G957C	probably damaging	Het
Klhl8	A	G	5: 103,867,567	I421T	probably benign	Het
Kntc1	T	C	5: 123,794,153	C1337R	probably damaging	Het
Lpin3	A	G	2: 160,898,645	N370S	probably benign	Het
Man2a2	C	A	7: 80,351,715	R1148L	probably benign	Het
Nav2	A	G	7: 49,575,263		probably benign	Het
Nav2	C	T	7: 49,552,037	T1453I	possibly damaging	Het
Ndufaf5	T	A	2: 140,170,725	V5D	probably benign	Het
Nipbl	G	C	15: 8,366,658	Q144E	probably damaging	Het
Ntrk2	G	C	13: 59,060,312	Q657H	probably damaging	Het
Olfr1212	G	A	2: 88,959,341	E292K	probably benign	Het
Olfr1248	G	T	2: 89,618,168	T8K	probably damaging	Het
Polr1a	A	G	6: 71,950,848	D861G	probably damaging	Het
Pramef20	A	T	4: 144,372,867	F443I	probably benign	Het
Pwwp2b	T	C	7: 139,255,639	I332T	probably benign	Het
Rasgrf2	T	C	13: 91,983,678	D620G	possibly damaging	Het
Slc14a2	A	G	18: 78,195,747	V219A	probably benign	Het
Slc7a2	T	C	8: 40,902,649	I245T	probably benign	Het
Taok2	C	T	7: 126,866,521	R367Q	possibly damaging	Het
Tbl1xr1	A	G	3: 22,200,588		probably null	Het
Tbr1	A	T	2: 61,804,838	D44V	possibly damaging	Het
Tespa1	C	T	10: 130,361,957	R283C	probably damaging	Het
Tle2	A	G	10: 81,581,682	E227G	possibly damaging	Het
Vmn1r231	T	C	17: 20,890,456	R66G	possibly damaging	Het
Xab2	T	C	8: 3,616,353	E185G	probably benign	Het

Other mutations in Smok3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8160:Smok3c	UTSW	5	138,065,024 (GRCm38)	missense	possibly damaging	0.91
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'- CACTCATGTGGCTGTCAAAACC -3'
(R):5'- GGAGCACTAAATGGGTAAGTCC -3'

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

Posted On

2015-07-21