Mutagenetix > Incidental Mutation

Incidental Mutation 'R6979:Smok3c'

542609

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

045087-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

R6979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138053194-138066537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138064725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 158 (D158G)

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: D158G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: D158G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178402
AA Change: D158G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: D158G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 60,040,003 (GRCm38)	T374M	probably benign	Het
Aspg	A	G	12: 112,120,944 (GRCm38)	D278G	possibly damaging	Het
Aspm	C	A	1: 139,480,485 (GRCm38)	A2370E	probably damaging	Het
Ccnt2	T	C	1: 127,775,136 (GRCm38)	M65T	probably damaging	Het
Cd163	A	G	6: 124,317,986 (GRCm38)	T670A	probably benign	Het
Cpne3	G	A	4: 19,533,098 (GRCm38)	T279I	probably benign	Het
Ctdspl	G	A	9: 119,040,530 (GRCm38)	V227M	probably damaging	Het
Ctnnd2	A	G	15: 30,619,230 (GRCm38)	E99G	probably damaging	Het
Dapk1	T	C	13: 60,748,281 (GRCm38)	S728P	probably damaging	Het
Dmxl2	A	G	9: 54,450,879 (GRCm38)	I512T	possibly damaging	Het
Dopey1	A	T	9: 86,521,642 (GRCm38)	T1630S	possibly damaging	Het
Dqx1	A	G	6: 83,061,011 (GRCm38)	D460G	probably damaging	Het
Foxg1	T	C	12: 49,384,784 (GRCm38)		probably benign	Het
H2-Q2	T	A	17: 35,345,647 (GRCm38)		probably null	Het
Hes6	T	C	1: 91,413,088 (GRCm38)	E17G	possibly damaging	Het
Ighv1-42	T	C	12: 114,937,228 (GRCm38)	Y79C	possibly damaging	Het
Itfg2	T	C	6: 128,411,591 (GRCm38)	D311G	probably damaging	Het
Itgb5	T	A	16: 33,919,986 (GRCm38)	C489S	probably damaging	Het
Map4k5	A	T	12: 69,822,848 (GRCm38)	C488S	probably damaging	Het
Mark1	C	T	1: 184,912,628 (GRCm38)	G377D	possibly damaging	Het
Mat2a	A	G	6: 72,435,113 (GRCm38)	V318A	probably damaging	Het
Mpp7	T	G	18: 7,355,049 (GRCm38)	N459T	possibly damaging	Het
Mrc2	C	A	11: 105,348,635 (GRCm38)	N1348K	probably damaging	Het
Mroh5	T	C	15: 73,793,129 (GRCm38)	K264R	probably benign	Het
Mtor	A	G	4: 148,524,473 (GRCm38)	M1529V	possibly damaging	Het
Mtrr	C	T	13: 68,570,003 (GRCm38)		probably null	Het
Nwd1	C	T	8: 72,667,660 (GRCm38)	P517L	probably damaging	Het
Olfr1100	A	G	2: 86,978,233 (GRCm38)	S188P	probably damaging	Het
Olfr1197	T	A	2: 88,729,184 (GRCm38)	R138S	probably benign	Het
Polr1c	A	G	17: 46,246,169 (GRCm38)	F63L	probably damaging	Het
Polrmt	C	T	10: 79,746,566 (GRCm38)		probably null	Het
Pomt2	T	C	12: 87,130,351 (GRCm38)	I287M	probably damaging	Het
Prkar2a	T	A	9: 108,733,143 (GRCm38)	N190K	possibly damaging	Het
Prl3d3	T	A	13: 27,157,562 (GRCm38)	Y59N	possibly damaging	Het
Prl5a1	T	A	13: 28,151,206 (GRCm38)	F199L	probably benign	Het
Prpf38b	A	G	3: 108,911,324 (GRCm38)	V40A	probably benign	Het
Ptchd1	T	A	X: 155,574,712 (GRCm38)	Y499F	probably damaging	Het
Ptgs1	A	G	2: 36,251,299 (GRCm38)	D586G	probably benign	Het
Slx4	T	C	16: 3,985,015 (GRCm38)	K1312E	probably damaging	Het
Spen	A	T	4: 141,478,063 (GRCm38)	D1084E	unknown	Het
Tcp11l1	C	T	2: 104,706,439 (GRCm38)	G27D	probably benign	Het
Tep1	A	G	14: 50,838,637 (GRCm38)	S1679P	possibly damaging	Het
Tmem259	C	T	10: 79,978,557 (GRCm38)	V322I	possibly damaging	Het
Tmpo	A	T	10: 91,152,497 (GRCm38)		probably null	Het
Ttn	C	A	2: 76,724,793 (GRCm38)	A30623S	probably damaging	Het
Ube2l3	G	A	16: 17,159,977 (GRCm38)		probably benign	Het
Unkl	A	G	17: 25,199,916 (GRCm38)	D146G	probably damaging	Het
Vmn1r51	A	T	6: 90,129,204 (GRCm38)	H34L	possibly damaging	Het
Vmn2r17	A	G	5: 109,428,399 (GRCm38)	T379A	possibly damaging	Het
Zfp35	G	T	18: 24,003,870 (GRCm38)	G424C	probably benign	Het
Zfp420	T	A	7: 29,876,021 (GRCm38)	H555Q	probably 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
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'- AGTTGTGCGAGGGTAAATCAC -3'
(R):5'- CCTGCAAGAATTCGCTTTACC -3'

Sequencing Primer
(F):5'- GTGCGAGGGTAAATCACTTTAC -3'
(R):5'- TGCAAGCATCAAACGGGATCTTTC -3'

Posted On

2018-11-28