Mutagenetix > Incidental Mutation

Incidental Mutation 'R4900:Smok3c'

376082

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

042504-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

R4900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138053194-138066537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138064551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 100 (I100T)

Ref Sequence

ENSEMBL: ENSMUSP00000140749 (fasta)

Gene Model

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

AlphaFold

A0A087WSF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000110967
AA Change: I100T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: I100T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178402
AA Change: I100T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: I100T

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,918,110 (GRCm38)	V262A	probably benign	Het
Abtb2	A	G	2: 103,567,004 (GRCm38)	E93G	possibly damaging	Het
Adam5	G	A	8: 24,781,603 (GRCm38)	T596I	probably damaging	Het
Adam5	A	C	8: 24,742,156 (GRCm38)		probably null	Het
Adgrb2	T	A	4: 130,013,875 (GRCm38)	Y1001N	probably damaging	Het
Aox2	T	G	1: 58,305,385 (GRCm38)	S546A	probably benign	Het
Asic2	T	C	11: 81,573,454 (GRCm38)		probably benign	Het
Bcl11b	T	A	12: 107,989,698 (GRCm38)	N64I	probably damaging	Het
Cacna1g	A	G	11: 94,459,351 (GRCm38)	F556S	possibly damaging	Het
Cbl	A	G	9: 44,152,869 (GRCm38)	V790A	probably benign	Het
Cd300c2	A	T	11: 115,000,981 (GRCm38)	C22*	probably null	Het
Cdh11	C	T	8: 102,647,458 (GRCm38)		probably null	Het
Ces2g	C	T	8: 104,967,357 (GRCm38)	Q442*	probably null	Het
Cps1	A	T	1: 67,160,904 (GRCm38)	T404S	probably damaging	Het
Csf2rb2	A	T	15: 78,285,974 (GRCm38)		probably null	Het
Csmd2	A	G	4: 128,452,525 (GRCm38)	Y1526C	probably benign	Het
Cyp2a12	C	T	7: 27,031,215 (GRCm38)	Q202*	probably null	Het
Cyp2c39	G	A	19: 39,513,576 (GRCm38)	M136I	probably benign	Het
Cyp2j13	G	A	4: 96,059,043 (GRCm38)	T257I	probably damaging	Het
Dnah8	T	A	17: 30,746,975 (GRCm38)	L2427Q	probably damaging	Het
Dopey2	G	T	16: 93,763,430 (GRCm38)		probably null	Het
Epcam	T	C	17: 87,643,621 (GRCm38)	V212A	possibly damaging	Het
Fam189a2	A	G	19: 23,975,426 (GRCm38)	S507P	possibly damaging	Het
Flt1	C	A	5: 147,683,939 (GRCm38)	A132S	probably benign	Het
Flvcr2	T	A	12: 85,782,982 (GRCm38)	V255D	probably damaging	Het
Galc	G	T	12: 98,231,472 (GRCm38)	T326K	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958 (GRCm38)		probably benign	Het
Gen1	A	T	12: 11,241,560 (GRCm38)	Y808N	probably benign	Het
Glis1	C	T	4: 107,619,564 (GRCm38)	A306V	probably damaging	Het
Gm10638	A	G	8: 86,746,400 (GRCm38)		probably benign	Het
Gm12789	G	A	4: 101,988,985 (GRCm38)		probably benign	Het
Gm1966	T	G	7: 106,598,586 (GRCm38)		noncoding transcript	Het
Gm27048	C	T	8: 80,934,599 (GRCm38)		noncoding transcript	Het
Gm4204	T	C	1: 135,232,818 (GRCm38)		noncoding transcript	Het
Gm904	A	T	13: 50,645,289 (GRCm38)	I95F	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Ints11	G	A	4: 155,888,430 (GRCm38)	D526N	probably benign	Het
Itfg2	A	G	6: 128,416,316 (GRCm38)		probably benign	Het
Jund	T	C	8: 70,699,605 (GRCm38)	V183A	probably damaging	Het
Kcnj8	A	G	6: 142,566,495 (GRCm38)	S129P	probably damaging	Het
Kcnq3	A	G	15: 65,995,410 (GRCm38)	S795P	probably damaging	Het
Lhx8	G	T	3: 154,330,288 (GRCm38)	A22E	probably benign	Het
Lrp8	A	G	4: 107,806,809 (GRCm38)		probably benign	Het
Lvrn	G	T	18: 46,893,701 (GRCm38)	A789S	probably damaging	Het
Lvrn	T	C	18: 46,881,412 (GRCm38)	S526P	probably damaging	Het
Mga	T	A	2: 119,964,054 (GRCm38)	C2622S	possibly damaging	Het
Mroh8	T	C	2: 157,228,727 (GRCm38)	E568G	probably benign	Het
Ms4a4b	C	A	19: 11,463,139 (GRCm38)		probably benign	Het
Muc2	T	C	7: 141,749,543 (GRCm38)	F99S	probably benign	Het
Myo5c	T	A	9: 75,273,543 (GRCm38)	I738N	probably damaging	Het
Naip6	A	C	13: 100,296,969 (GRCm38)	V1120G	probably damaging	Het
Ncl	T	C	1: 86,356,179 (GRCm38)	T307A	probably benign	Het
Npr1	A	T	3: 90,455,965 (GRCm38)	D869E	possibly damaging	Het
Nup93	A	G	8: 94,286,603 (GRCm38)	T36A	probably benign	Het
Olfml2b	C	A	1: 170,662,378 (GRCm38)	T189N	probably damaging	Het
Olfr1255	A	G	2: 89,816,968 (GRCm38)	N208S	possibly damaging	Het
Olfr877	T	C	9: 37,855,312 (GRCm38)	F165L	probably benign	Het
P4htm	A	C	9: 108,579,228 (GRCm38)	W458G	probably damaging	Het
Pdzrn4	G	T	15: 92,770,757 (GRCm38)	R930L	probably damaging	Het
Pgam5	G	A	5: 110,260,435 (GRCm38)	A240V	probably damaging	Het
Prex2	T	C	1: 11,149,905 (GRCm38)		probably benign	Het
Ptpru	T	G	4: 131,788,382 (GRCm38)	E897A	probably damaging	Het
Rapgef2	A	T	3: 79,074,363 (GRCm38)	N1256K	probably benign	Het
Rhbdl3	A	G	11: 80,319,613 (GRCm38)	E64G	probably benign	Het
Sel1l3	A	T	5: 53,131,842 (GRCm38)	L879Q	probably damaging	Het
Siah1a	G	T	8: 86,725,075 (GRCm38)	D260E	probably benign	Het
Skint6	T	C	4: 113,067,470 (GRCm38)	I522V	probably benign	Het
Slco4c1	G	A	1: 96,841,228 (GRCm38)	P303L	probably damaging	Het
Snx24	C	A	18: 53,385,223 (GRCm38)	Y141*	probably null	Het
Tigit	A	G	16: 43,649,231 (GRCm38)	S166P	probably damaging	Het
Tmem183a	C	T	1: 134,348,166 (GRCm38)	R324Q	probably benign	Het
Tmie	T	C	9: 110,866,933 (GRCm38)	D130G	possibly damaging	Het
Uggt1	G	A	1: 36,202,855 (GRCm38)	R333*	probably null	Het
Vmn2r111	T	C	17: 22,548,656 (GRCm38)	N620S	possibly damaging	Het
Vmn2r12	T	A	5: 109,092,986 (GRCm38)	N87I	probably damaging	Het
Vmn2r92	A	G	17: 18,184,343 (GRCm38)	D583G	probably benign	Het
Zdhhc17	T	C	10: 110,985,958 (GRCm38)	D60G	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
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'- TAGAGACTATCGGCCATGGAGG -3'
(R):5'- TTGGTGCTGAGTCCAAAATCAATG -3'

Sequencing Primer
(F):5'- GGTGCATCCTTATCATGTC -3'
(R):5'- GCTGAGTCCAAAATCAATGATCTTC -3'

Posted On

2016-03-17