Mutagenetix > Incidental Mutation

Incidental Mutation 'R8381:Smok3c'

646941

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

067748-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

R8381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138053194-138066537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138065562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 437 (T437I)

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: T437I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: T437I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178402
AA Change: T437I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: T437I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 138,173,521 (GRCm38)		probably null	Het
4931417E11Rik	A	T	6: 73,468,912 (GRCm38)	V218E	probably damaging	Het
AA792892	C	T	5: 94,384,022 (GRCm38)	T255I	probably damaging	Het
Actrt3	A	G	3: 30,597,836 (GRCm38)	*370R	probably null	Het
Adam34	A	G	8: 43,651,810 (GRCm38)	I266T	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Celsr2	T	C	3: 108,395,636 (GRCm38)	N2507S	probably damaging	Het
E2f8	T	C	7: 48,877,962 (GRCm38)	D144G	probably damaging	Het
Eif4enif1	T	C	11: 3,227,470 (GRCm38)	S346P	probably damaging	Het
Fbln5	A	G	12: 101,761,855 (GRCm38)	F270S	probably benign	Het
Fnip2	T	A	3: 79,465,693 (GRCm38)	D1026V	probably damaging	Het
Fubp3	G	A	2: 31,592,497 (GRCm38)		probably null	Het
Gjb6	T	C	14: 57,124,462 (GRCm38)	E114G	probably benign	Het
Gpr160	A	G	3: 30,895,781 (GRCm38)	M1V	probably null	Het
Hey2	A	G	10: 30,833,990 (GRCm38)	S256P	probably damaging	Het
Hnrnpll	A	T	17: 80,030,491 (GRCm38)	H590Q	probably damaging	Het
Ice2	T	A	9: 69,410,171 (GRCm38)	H192Q	probably damaging	Het
Ighv1-20	T	A	12: 114,723,881 (GRCm38)	Q81L	probably benign	Het
Ighv5-2	T	A	12: 113,578,705 (GRCm38)	H51L	probably benign	Het
Kif27	T	C	13: 58,291,177 (GRCm38)	D1190G	probably benign	Het
Klk1b1	C	T	7: 43,970,343 (GRCm38)	R109C	possibly damaging	Het
Mettl14	A	G	3: 123,374,798 (GRCm38)	Y198H	probably damaging	Het
Nlrp6	C	T	7: 140,923,841 (GRCm38)	A620V	possibly damaging	Het
Obsl1	G	T	1: 75,503,857 (GRCm38)	F374L	possibly damaging	Het
Olfr1100	T	C	2: 86,978,029 (GRCm38)	I256V	probably benign	Het
Olfr190	A	G	16: 59,074,862 (GRCm38)	S73P	probably damaging	Het
Olfr65	T	C	7: 103,906,939 (GRCm38)	F164L		Het
Pcbp4	G	A	9: 106,461,289 (GRCm38)	A138T	probably damaging	Het
Rnf17	TG	T	14: 56,424,542 (GRCm38)	132	probably null	Het
Robo3	T	A	9: 37,429,760 (GRCm38)	D72V	probably damaging	Het
Slc16a5	A	G	11: 115,469,890 (GRCm38)	S300G	probably benign	Het
Smg6	C	T	11: 74,931,740 (GRCm38)	R670W	probably damaging	Het
Stk36	A	G	1: 74,633,174 (GRCm38)	I931V	probably benign	Het
Syk	T	C	13: 52,633,049 (GRCm38)	Y383H	probably benign	Het
Tacc2	T	A	7: 130,624,242 (GRCm38)	S886T	probably benign	Het
Top1	A	G	2: 160,703,674 (GRCm38)	M321V	probably null	Het
Ttc17	A	G	2: 94,301,821 (GRCm38)	L598P	probably damaging	Het
Xdh	T	G	17: 73,912,461 (GRCm38)	I648L	probably benign	Het
Zfhx4	A	C	3: 5,382,616 (GRCm38)	K1126T	probably benign	Het
Zfp729b	T	C	13: 67,591,498 (GRCm38)	T883A	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
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
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'- ACTGCTACTACCTGTCTCGGAC -3'
(R):5'- CCCAGGTGAGATGTCTCTTTG -3'

Sequencing Primer
(F):5'- TGAACCCACATGTCCCTGG -3'
(R):5'- CTCTTTGGATGGGATACAGCAAC -3'

Posted On

2020-09-02