Mutagenetix > Incidental Mutation

Incidental Mutation 'R6225:Smok3c'

504256

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

044356-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

R6225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138053194-138066537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138065052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 267 (V267A)

Ref Sequence

ENSEMBL: ENSMUSP00000140749 (fasta)

Gene Model

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

AlphaFold

A0A087WSF2

Predicted Effect

probably benign
Transcript: ENSMUST00000110967
AA Change: V267A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: V267A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178402
AA Change: V267A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: V267A

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,948,304 (GRCm38)	V1466A	probably damaging	Het
Ace	A	G	11: 105,979,619 (GRCm38)	H288R	possibly damaging	Het
Adh1	T	C	3: 138,289,804 (GRCm38)	F323L	probably benign	Het
Adssl1	A	C	12: 112,634,403 (GRCm38)	H226P	probably damaging	Het
Ahrr	A	G	13: 74,222,912 (GRCm38)	S230P	possibly damaging	Het
Akap9	T	C	5: 3,962,105 (GRCm38)	V936A	probably damaging	Het
B4galnt2	A	G	11: 95,868,442 (GRCm38)	Y339H	probably damaging	Het
C4b	C	A	17: 34,738,874 (GRCm38)	G611V	possibly damaging	Het
Cacna1i	A	G	15: 80,321,226 (GRCm38)	M128V	probably damaging	Het
Chia1	T	C	3: 106,130,897 (GRCm38)	S370P	possibly damaging	Het
Cops6	T	C	5: 138,161,411 (GRCm38)	V9A	possibly damaging	Het
D3Ertd254e	T	C	3: 36,166,203 (GRCm38)	F792L	probably benign	Het
D630003M21Rik	A	T	2: 158,217,401 (GRCm38)	I193K	probably benign	Het
Daam2	T	C	17: 49,494,439 (GRCm38)	D90G	probably damaging	Het
Fads3	A	G	19: 10,041,838 (GRCm38)	D36G	probably benign	Het
Fam185a	T	C	5: 21,425,556 (GRCm38)	V130A	probably damaging	Het
Fbn1	A	T	2: 125,330,543 (GRCm38)	N1928K	probably damaging	Het
Fstl3	A	G	10: 79,780,009 (GRCm38)	M110V	probably benign	Het
G2e3	A	G	12: 51,369,136 (GRCm38)	T552A	possibly damaging	Het
Gfra1	G	A	19: 58,238,398 (GRCm38)	T462I	probably damaging	Het
Glrx2	T	A	1: 143,745,383 (GRCm38)		probably benign	Het
Gm10100	G	T	10: 77,726,664 (GRCm38)	C60F	possibly damaging	Het
Gm43302	T	A	5: 105,277,739 (GRCm38)	K275*	probably null	Het
Gm6569	A	G	15: 73,839,791 (GRCm38)		probably benign	Het
Herc6	G	T	6: 57,662,154 (GRCm38)	V867L	possibly damaging	Het
Hhipl2	T	A	1: 183,428,551 (GRCm38)		probably null	Het
Kcnj16	A	T	11: 111,025,552 (GRCm38)	K347*	probably null	Het
Kcnt2	T	A	1: 140,426,923 (GRCm38)	C305*	probably null	Het
Large2	A	G	2: 92,366,480 (GRCm38)	L477P	probably damaging	Het
Lnpep	T	C	17: 17,578,983 (GRCm38)	T137A	possibly damaging	Het
Mettl3	T	C	14: 52,296,758 (GRCm38)		probably null	Het
Mical3	C	T	6: 120,958,723 (GRCm38)	S1614N	probably damaging	Het
Morc3	C	A	16: 93,845,194 (GRCm38)	Y100*	probably null	Het
Mrc2	A	G	11: 105,346,820 (GRCm38)	K1108R	probably benign	Het
Mrpl2	T	C	17: 46,649,909 (GRCm38)	V243A	probably damaging	Het
Mtor	T	A	4: 148,521,337 (GRCm38)	N1505K	probably benign	Het
Mut	T	A	17: 40,938,731 (GRCm38)	V199E	possibly damaging	Het
Myo1g	A	T	11: 6,519,168 (GRCm38)	Y45N	probably damaging	Het
Nckap5l	C	A	15: 99,428,024 (GRCm38)	L199F	possibly damaging	Het
Ndufc2	A	G	7: 97,406,892 (GRCm38)	T66A	probably damaging	Het
Nos1	T	A	5: 117,912,852 (GRCm38)	H779Q	probably damaging	Het
Olfr1148	A	G	2: 87,833,317 (GRCm38)	T93A	probably benign	Het
Olfr1264	A	G	2: 90,021,229 (GRCm38)		probably null	Het
Olfr180	T	C	16: 58,916,182 (GRCm38)	N153S	probably benign	Het
Olfr221	C	A	14: 52,035,368 (GRCm38)	V248L	possibly damaging	Het
Olfr382	T	C	11: 73,517,005 (GRCm38)	N65D	probably damaging	Het
Olfr615	A	T	7: 103,561,282 (GRCm38)	R268S	probably benign	Het
Olfr71	T	C	4: 43,705,698 (GRCm38)	Y290C	probably damaging	Het
Otog	C	T	7: 46,249,034 (GRCm38)	T192I	possibly damaging	Het
Oxct1	T	C	15: 4,035,330 (GRCm38)	V50A	probably benign	Het
P3h2	T	A	16: 25,965,743 (GRCm38)	D667V	probably damaging	Het
Pcdhb20	A	G	18: 37,504,994 (GRCm38)	Y191C	probably damaging	Het
Pds5b	T	G	5: 150,746,618 (GRCm38)	V357G	probably damaging	Het
Pggt1b	A	G	18: 46,274,607 (GRCm38)	V81A	possibly damaging	Het
Phxr2	A	G	10: 99,126,181 (GRCm38)		probably benign	Het
Pnpt1	T	C	11: 29,145,469 (GRCm38)	I406T	probably benign	Het
Ppat	T	C	5: 76,922,355 (GRCm38)	I173V	probably damaging	Het
Proser3	T	C	7: 30,543,728 (GRCm38)	S167G	probably damaging	Het
Rnf135	A	C	11: 80,189,227 (GRCm38)	T115P	possibly damaging	Het
Rpl22	C	T	4: 152,330,079 (GRCm38)	R65C	probably benign	Het
Scel	T	C	14: 103,591,984 (GRCm38)	F405L	probably benign	Het
Serinc3	A	G	2: 163,627,879 (GRCm38)	Y350H	probably damaging	Het
Slc25a16	C	A	10: 62,928,323 (GRCm38)	T53K	probably damaging	Het
Slco1a1	A	T	6: 141,924,489 (GRCm38)	F308I	possibly damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,679,816 (GRCm38)		probably benign	Het
Ssrp1	A	G	2: 85,042,814 (GRCm38)	D473G	probably benign	Het
Svs6	A	G	2: 164,317,485 (GRCm38)	E56G	possibly damaging	Het
Tas2r130	TCATTTC	T	6: 131,630,584 (GRCm38)		probably benign	Het
Thoc3	T	C	13: 54,467,972 (GRCm38)	N93S	probably benign	Het
Tle6	A	G	10: 81,592,766 (GRCm38)	C443R	probably damaging	Het
Tmed6	A	G	8: 107,061,739 (GRCm38)	F192S	probably damaging	Het
Tpx2	A	G	2: 152,876,628 (GRCm38)	N184D	probably benign	Het
Vmn2r31	T	A	7: 7,394,639 (GRCm38)	N207Y	probably benign	Het
Zfp709	TCGACG	TCG	8: 71,890,708 (GRCm38)		probably benign	Het
Zfp972	A	T	2: 177,907,324 (GRCm38)		probably null	Het
Zzef1	G	A	11: 72,869,805 (GRCm38)	C1318Y	possibly damaging	Het

Other mutations in Smok3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4440:Smok3c	UTSW	5	138,064,604 (GRCm38)	missense	possibly damaging	0.93
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
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'- GGCCCAAGATCGATGTATGGAC -3'
(R):5'- TTCAGTAGACAATAAGACGCCATG -3'

Sequencing Primer
(F):5'- CCCAAGATCGATGTATGGACTCTTG -3'
(R):5'- ACAATAAGACGCCATGGTTTG -3'

Posted On

2018-02-28