Mutagenetix > Incidental Mutation

Incidental Mutation 'R8274:Smok2a'

637922

Institutional Source

Beutler Lab

Gene Symbol

Smok2a

Ensembl Gene

ENSMUSG00000073458

Gene Name

sperm motility kinase 2A

Synonyms

Smok2

MMRRC Submission

067697-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8274 (G1)

Quality Score

120.008

Status

Validated

Chromosome

Chromosomal Location

13440075-13446545 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13445781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 453 (A453T)

Ref Sequence

ENSEMBL: ENSMUSP00000094432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080647] [ENSMUST00000162940]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080647
AA Change: A453T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000094432
Gene: ENSMUSG00000073458
AA Change: A453T

Domain	Start	End	E-Value	Type
S_TKc	28	276	2.02e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162940

SMART Domains

Protein: ENSMUSP00000124967
Gene: ENSMUSG00000073457

Domain	Start	End	E-Value	Type
S_TKc	8	256	3.13e-98	SMART
low complexity region	393	405	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	C	11: 3,844,964 (GRCm39)	T42A	possibly damaging	Het
Adamts6	T	C	13: 104,450,181 (GRCm39)	V294A	probably benign	Het
Ahr	A	C	12: 35,560,068 (GRCm39)	V195G	probably benign	Het
Ankrd17	A	T	5: 90,430,718 (GRCm39)	I1022N	probably benign	Het
Arsk	A	T	13: 76,220,303 (GRCm39)	C264S	probably damaging	Het
Astn2	A	G	4: 65,570,098 (GRCm39)		probably null	Het
Atf7ip	C	A	6: 136,537,988 (GRCm39)	T407K	probably benign	Het
Axl	A	G	7: 25,463,438 (GRCm39)	I613T	probably damaging	Het
Baz2a	T	C	10: 127,957,716 (GRCm39)	M1021T	probably benign	Het
Cacna2d2	T	C	9: 107,401,861 (GRCm39)	V765A	possibly damaging	Het
Chd7	T	C	4: 8,839,432 (GRCm39)	Y1323H	probably damaging	Het
Col7a1	G	T	9: 108,799,029 (GRCm39)	G1794V	probably damaging	Het
Csmd1	T	C	8: 15,960,453 (GRCm39)	M3321V	possibly damaging	Het
Dcp1b	T	C	6: 119,160,612 (GRCm39)	S65P	probably damaging	Het
Depdc7	A	G	2: 104,558,551 (GRCm39)	S157P	probably benign	Het
Dnah1	T	A	14: 31,017,531 (GRCm39)	H1500L	probably benign	Het
Erbb2	C	T	11: 98,324,722 (GRCm39)	A772V	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	A	9: 16,288,786 (GRCm39)	K246*	probably null	Het
Fbxl9	T	A	8: 106,042,166 (GRCm39)	I221F	probably benign	Het
Gbp4	T	C	5: 105,267,338 (GRCm39)	N527S	probably benign	Het
Gpr157	C	T	4: 150,172,500 (GRCm39)	T97M	probably damaging	Het
Gpt2	T	C	8: 86,242,853 (GRCm39)	L295P	probably benign	Het
Grm8	T	A	6: 27,761,335 (GRCm39)	K296N	probably benign	Het
Gss	T	A	2: 155,429,424 (GRCm39)	I23L	probably benign	Het
Hk3	A	G	13: 55,159,230 (GRCm39)	V442A	possibly damaging	Het
Hoxa3	C	A	6: 52,147,524 (GRCm39)	R243L	unknown	Het
Junb	T	A	8: 85,705,058 (GRCm39)	M1L	possibly damaging	Het
Kcnh6	T	C	11: 105,910,987 (GRCm39)	I514T	probably damaging	Het
Kif11	C	A	19: 37,391,994 (GRCm39)	T463N	probably damaging	Het
Lmf2	C	T	15: 89,236,866 (GRCm39)	G459S	probably damaging	Het
Lpl	A	G	8: 69,345,250 (GRCm39)	T85A	possibly damaging	Het
Myo9b	G	A	8: 71,812,480 (GRCm39)	A2084T	probably benign	Het
Oog4	T	A	4: 143,166,459 (GRCm39)		probably benign	Het
Or7g18	T	A	9: 18,786,795 (GRCm39)	H57Q	probably benign	Het
Polr2a	G	A	11: 69,638,882 (GRCm39)	R51C	probably damaging	Het
Ppip5k2	A	G	1: 97,686,941 (GRCm39)	V94A	possibly damaging	Het
Ptprk	G	T	10: 28,456,408 (GRCm39)	R1056L	probably damaging	Het
Rfx2	C	T	17: 57,111,348 (GRCm39)	A75T	probably benign	Het
Scn11a	T	C	9: 119,632,548 (GRCm39)	T441A	probably benign	Het
Siglec1	A	G	2: 130,925,830 (GRCm39)	V292A	probably benign	Het
Tmcc3	T	C	10: 94,422,738 (GRCm39)	V427A	probably damaging	Het
Tmem208	T	G	8: 106,055,257 (GRCm39)	I106S	probably damaging	Het
Tpr	A	G	1: 150,299,230 (GRCm39)		probably benign	Het
Trav9-2	G	T	14: 53,828,810 (GRCm39)	R60L	probably benign	Het
Vcan	T	C	13: 89,853,089 (GRCm39)	K624E	probably benign	Het
Zfp318	A	T	17: 46,723,915 (GRCm39)	M1973L	probably benign	Het

Other mutations in Smok2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Smok2a	APN	17	13,445,377 (GRCm39)	missense	probably benign	0.00
R5809:Smok2a	UTSW	17	13,445,865 (GRCm39)	missense	possibly damaging	0.93
R6046:Smok2a	UTSW	17	13,445,021 (GRCm39)	missense	probably benign	0.34
R6444:Smok2a	UTSW	17	13,444,500 (GRCm39)	missense	probably benign	0.01
R6464:Smok2a	UTSW	17	13,445,317 (GRCm39)	missense	probably damaging	1.00
R6896:Smok2a	UTSW	17	13,444,758 (GRCm39)	missense	probably benign	0.03
R6912:Smok2a	UTSW	17	13,444,543 (GRCm39)	missense	probably benign	0.08
R7027:Smok2a	UTSW	17	13,444,666 (GRCm39)	missense	probably damaging	1.00
R7445:Smok2a	UTSW	17	13,445,526 (GRCm39)	missense	possibly damaging	0.76
R7793:Smok2a	UTSW	17	13,444,513 (GRCm39)	missense	possibly damaging	0.59
R7935:Smok2a	UTSW	17	13,444,599 (GRCm39)	missense	probably damaging	0.97
R8293:Smok2a	UTSW	17	13,445,791 (GRCm39)	missense	probably benign	0.00
R8316:Smok2a	UTSW	17	13,445,160 (GRCm39)	missense	probably damaging	1.00
R8413:Smok2a	UTSW	17	13,444,499 (GRCm39)	missense	probably benign	0.20
R9067:Smok2a	UTSW	17	13,445,825 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGCTAATAGGCAAATGTCTGTCTG -3'
(R):5'- CGAATGCTCGTTCTCCTGAC -3'

Sequencing Primer
(F):5'- CAAATGTCTGTCTGTGGAAGGAGTAC -3'
(R):5'- TCCTGACACCCTTCCTGTG -3'

Posted On

2020-07-28