Mutagenetix > Incidental Mutation

Incidental Mutation 'R8223:Smok3c'

636817

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

067641-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

R8223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138053194-138066537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138065393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 381 (S381P)

Ref Sequence

ENSEMBL: ENSMUSP00000141020 (fasta)

Gene Model

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

AlphaFold

A0A087WSF2

Predicted Effect

probably benign
Transcript: ENSMUST00000110967
AA Change: S381P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: S381P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178402
AA Change: S381P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: S381P

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,361,692	W18R	probably damaging	Het
Alms1	T	A	6: 85,643,240	Y2417*	probably null	Het
Apold1	T	A	6: 134,984,185	S201T	probably benign	Het
Arhgap31	G	A	16: 38,603,722	P661S	probably benign	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Cacfd1	T	C	2: 27,018,384	V110A	possibly damaging	Het
Capn2	A	G	1: 182,482,534		probably null	Het
Chadl	T	C	15: 81,695,134	E98G	possibly damaging	Het
Crxos	T	C	7: 15,897,469	Y31H	probably benign	Het
Cyp4f14	A	C	17: 32,911,653		probably null	Het
Cyp4f39	T	C	17: 32,470,865	I95T	probably benign	Het
Dars	T	C	1: 128,372,224	E341G	probably benign	Het
Dchs1	G	T	7: 105,762,617	R1431S	possibly damaging	Het
Dopey1	T	A	9: 86,518,292	H1001Q	probably damaging	Het
Efemp1	T	C	11: 28,854,528	Y19H	probably benign	Het
Eml1	T	G	12: 108,536,310	F726V	probably benign	Het
Fdx1	A	T	9: 51,948,621	D136E	probably benign	Het
Ganab	A	T	19: 8,910,828	D446V	probably damaging	Het
Gusb	A	G	5: 129,990,112	V561A	probably benign	Het
Hcn1	A	T	13: 117,873,870	D328V	unknown	Het
Hdgfl1	A	G	13: 26,770,064	Y9H	probably damaging	Het
Hes3	T	A	4: 152,287,115	S101C	probably damaging	Het
Igkv2-112	T	C	6: 68,220,595	S84P	probably benign	Het
Ints9	C	T	14: 65,020,360	P330S	possibly damaging	Het
Kdm7a	A	T	6: 39,149,301	N583K	probably damaging	Het
Klhl10	C	T	11: 100,447,401	T322M	probably damaging	Het
Kmt2c	A	T	5: 25,324,218	V1545D	possibly damaging	Het
Laptm5	T	C	4: 130,926,200		probably null	Het
Ldlr	A	G	9: 21,747,250	T833A	probably damaging	Het
Llgl1	G	T	11: 60,702,822	L40F	possibly damaging	Het
Lrrc14	T	C	15: 76,714,556	L464S	probably damaging	Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Lysmd3	T	A	13: 81,669,267	L121H		Het
Map2	T	C	1: 66,425,490	S1680P	probably damaging	Het
Med12l	T	C	3: 59,086,363	V583A	possibly damaging	Het
Mfsd4b5	A	G	10: 39,970,250	Y445H	probably damaging	Het
Morf4l1	G	A	9: 90,097,422	P169S	probably benign	Het
Nab2	C	A	10: 127,662,776	V475L	probably benign	Het
Ola1	A	G	2: 73,099,350	L303P	probably damaging	Het
Olfr1501	G	T	19: 13,838,861	T104K	probably damaging	Het
Olfr348	T	A	2: 36,787,397	Y291N		Het
Olfr857	T	C	9: 19,713,409	I194T	probably benign	Het
Olfr97	T	C	17: 37,231,836	D178G	possibly damaging	Het
Pdlim3	A	T	8: 45,900,525	H99L	possibly damaging	Het
Plagl2	G	T	2: 153,231,541	T480N	probably benign	Het
Ptprq	C	T	10: 107,699,638	R422Q	probably benign	Het
Rad18	T	A	6: 112,688,021	R51*	probably null	Het
Rpap3	T	A	15: 97,691,304	T250S	probably benign	Het
Serpinb11	T	C	1: 107,377,532	Y213H	probably benign	Het
Slc15a4	A	G	5: 127,609,016	F201L	possibly damaging	Het
Slc25a4	A	G	8: 46,210,859	S22P	probably damaging	Het
Slfn1	T	A	11: 83,121,419	N120K	probably damaging	Het
Sry	T	A	Y: 2,663,204	Q152L	unknown	Het
Taar2	T	A	10: 23,941,350	W263R	probably damaging	Het
Thnsl1	T	A	2: 21,212,113	V226E	probably benign	Het
Tmeff2	T	C	1: 51,133,120		probably null	Het
Tox	A	G	4: 6,842,408	Y41H	probably damaging	Het
Trank1	T	A	9: 111,365,889	Y994N	probably damaging	Het
Trim9	C	T	12: 70,251,015	A713T	probably damaging	Het
Tub	T	A	7: 109,029,326	M393K	probably benign	Het
Ube4a	A	G	9: 44,960,035	L22P	possibly damaging	Het
Usp47	A	G	7: 112,104,376	K1165R	probably damaging	Het
Usp6nl	T	A	2: 6,430,516	I362K	probably damaging	Het
Vmn1r217	T	C	13: 23,114,199	I178V	probably benign	Het
Vmn1r45	T	A	6: 89,933,092	T299S	probably damaging	Het
Vmn2r5	A	T	3: 64,491,305	L751*	probably null	Het
Xkr8	G	A	4: 132,730,935	P144L	probably damaging	Het
Zfpm2	T	C	15: 40,752,959	I35T	probably benign	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
R7127:Smok3c	UTSW	5	138064709	missense	probably damaging	0.96
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
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'- CATATCGGGTTCCAAGCTCAAG -3'
(R):5'- CTGGACTGTGCAAAACATTGAG -3'

Sequencing Primer
(F):5'- CGGGTTCCAAGCTCAAGATATTG -3'
(R):5'- CATTGAGCAAATGCAGGGTACACTC -3'

Posted On

2020-07-13