Mutagenetix > Incidental Mutation

Incidental Mutation 'R8841:Smok3c'

674409

Institutional Source

Beutler Lab

Gene Symbol

Smok3c

Ensembl Gene

ENSMUSG00000075598

Gene Name

sperm motility kinase 3C

Synonyms

EG622486

MMRRC Submission

068732-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R8841 (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 A at 138065275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 341 (D341E)

Ref Sequence

ENSEMBL: ENSMUSP00000141020 (fasta)

Gene Model

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

AlphaFold

A0A087WSF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000110967
AA Change: D341E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141020
Gene: ENSMUSG00000075598
AA Change: D341E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178402
AA Change: D341E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140749
Gene: ENSMUSG00000075598
AA Change: D341E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,143,925 (GRCm38)		probably benign	Het
Chaf1b	C	T	16: 93,905,020 (GRCm38)	T510I	probably benign	Het
Chrd	T	A	16: 20,735,737 (GRCm38)		probably benign	Het
Dennd2d	A	G	3: 106,486,264 (GRCm38)	Q11R	probably benign	Het
Dmrta1	A	C	4: 89,691,713 (GRCm38)	R303S	probably benign	Het
Emsy	A	G	7: 98,615,561 (GRCm38)	I543T	possibly damaging	Het
Fbxw2	G	A	2: 34,822,832 (GRCm38)		probably benign	Het
Fndc1	A	G	17: 7,773,349 (GRCm38)	V505A	unknown	Het
Foxf1	T	C	8: 121,085,180 (GRCm38)	V261A	probably damaging	Het
Fyb1	T	C	15: 6,652,491 (GRCm38)	V773A	probably damaging	Het
Gask1b	A	G	3: 79,887,119 (GRCm38)	E298G	probably benign	Het
Glp2r	G	T	11: 67,762,729 (GRCm38)	P77T	probably damaging	Het
Gpam	C	A	19: 55,078,518 (GRCm38)	D522Y	probably damaging	Het
Hpgd	T	A	8: 56,307,674 (GRCm38)	N135K	probably damaging	Het
Hsph1	T	A	5: 149,627,324 (GRCm38)	R437W	probably damaging	Het
Kif1c	G	A	11: 70,724,833 (GRCm38)	V588I	probably benign	Het
Klhdc4	T	A	8: 121,796,641 (GRCm38)	E554V	possibly damaging	Het
Krt33a	A	G	11: 100,014,135 (GRCm38)	S182P	probably damaging	Het
Lad1	A	G	1: 135,827,232 (GRCm38)	D82G	probably benign	Het
Lin7a	A	G	10: 107,382,663 (GRCm38)	R145G	possibly damaging	Het
Lmna	A	G	3: 88,484,613 (GRCm38)		probably null	Het
Lrrc8b	T	C	5: 105,480,322 (GRCm38)	V178A	probably benign	Het
Lrwd1	T	C	5: 136,123,183 (GRCm38)	R647G	possibly damaging	Het
Mapt	A	G	11: 104,310,377 (GRCm38)	E153G	probably damaging	Het
Mefv	C	T	16: 3,710,978 (GRCm38)	C563Y	probably benign	Het
Myo7b	T	C	18: 31,964,437 (GRCm38)	N1792S	probably benign	Het
Nkx6-3	C	T	8: 23,156,258 (GRCm38)	T148M	probably damaging	Het
Nomo1	T	A	7: 46,058,487 (GRCm38)	S573T	probably benign	Het
Ntrk3	G	T	7: 78,356,093 (GRCm38)	R507S	probably damaging	Het
Or2v2	A	C	11: 49,113,111 (GRCm38)	I205S	probably benign	Het
Or4k15	T	A	14: 50,127,209 (GRCm38)	F211I	probably damaging	Het
Or52e5	T	A	7: 105,070,272 (GRCm38)	N268K	possibly damaging	Het
Or6c200-ps1	A	G	10: 129,034,173 (GRCm38)	V223A	probably benign	Het
Or7e168	A	T	9: 19,808,589 (GRCm38)	R90S	probably benign	Het
Or8g21	A	G	9: 38,994,583 (GRCm38)	M284T	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,646 (GRCm38)	I126V	probably benign	Het
Phactr4	A	G	4: 132,365,573 (GRCm38)		probably null	Het
Pign	T	C	1: 105,557,909 (GRCm38)		probably benign	Het
Plekhn1	A	G	4: 156,232,198 (GRCm38)	L342P	probably damaging	Het
Pomk	G	A	8: 25,986,379 (GRCm38)	A49V	probably benign	Het
Prss50	A	G	9: 110,858,412 (GRCm38)	D141G	probably benign	Het
Ralgps1	A	C	2: 33,155,317 (GRCm38)	F406L	probably benign	Het
Rexo5	G	A	7: 119,848,788 (GRCm38)	S752N	probably benign	Het
Rin3	A	T	12: 102,369,278 (GRCm38)	I483L	probably benign	Het
Scn1a	T	A	2: 66,326,122 (GRCm38)	D481V	probably benign	Het
Scnn1a	T	C	6: 125,343,245 (GRCm38)	I554T	probably damaging	Het
Shc2	A	G	10: 79,622,316 (GRCm38)	V511A	probably damaging	Het
Slc18a2	C	T	19: 59,273,281 (GRCm38)	S200F	probably damaging	Het
Slc25a38	A	G	9: 120,120,779 (GRCm38)	D208G	probably damaging	Het
Tfcp2	A	G	15: 100,513,108 (GRCm38)	I373T	probably damaging	Het
Tnpo3	T	A	6: 29,589,183 (GRCm38)	D56V	probably damaging	Het
Trrap	T	A	5: 144,844,211 (GRCm38)	Y3261N	probably damaging	Het
Ttll12	A	T	15: 83,581,792 (GRCm38)		probably benign	Het
Ulk4	A	G	9: 121,204,738 (GRCm38)	C612R	probably damaging	Het
Ush1g	G	T	11: 115,319,181 (GRCm38)	D62E	probably damaging	Het
Vmn2r124	A	G	17: 18,063,037 (GRCm38)	N331S		Het
Vmn2r4	T	C	3: 64,406,637 (GRCm38)	I308V	probably damaging	Het
Vwa8	T	A	14: 78,947,262 (GRCm38)	V400E	probably benign	Het
Washc2	A	G	6: 116,258,955 (GRCm38)	D1129G	probably benign	Het
Washc5	G	T	15: 59,335,122 (GRCm38)	Q1101K	probably damaging	Het
Wfdc17	G	T	11: 83,704,112 (GRCm38)	L7F	probably benign	Het
Xpo4	T	C	14: 57,597,956 (GRCm38)	K636R	probably damaging	Het
Zan	T	A	5: 137,456,674 (GRCm38)	T1367S	unknown	Het
Zfp691	A	T	4: 119,170,664 (GRCm38)	S124T	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
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
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'- GCTGAGGTTATGGTGCATCC -3'
(R):5'- TGGGCCAACTGACTCTTCTG -3'

Sequencing Primer
(F):5'- TATGGTGCATCCCTGGGTCAC -3'
(R):5'- GCCAACTGACTCTTCTGTCTCTTTTC -3'

Posted On

2021-07-15