Mutagenetix > Incidental Mutation

Incidental Mutation 'R5087:Smok2b'

458146

Institutional Source

Beutler Lab

Gene Symbol

Smok2b

Ensembl Gene

ENSMUSG00000073457

Gene Name

sperm motility kinase 2B

Synonyms

LOC236574

MMRRC Submission

042676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5087 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

13449150-13456076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13454011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 57 (M57K)

Ref Sequence

ENSEMBL: ENSMUSP00000124967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059824] [ENSMUST00000162940]

AlphaFold

Q9QYZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000059824
AA Change: M57K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000061516
Gene: ENSMUSG00000073457
AA Change: M57K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162940
AA Change: M57K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124967
Gene: ENSMUSG00000073457
AA Change: M57K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	G	1: 9,631,851 (GRCm39)		probably benign	Het
Anln	T	C	9: 22,286,340 (GRCm39)	T322A	possibly damaging	Het
Best3	A	T	10: 116,844,907 (GRCm39)	Y354F	probably benign	Het
Cd44	C	T	2: 102,661,699 (GRCm39)	V509I	possibly damaging	Het
Cdk5rap1	T	C	2: 154,184,315 (GRCm39)	N529S	probably damaging	Het
Cnst	A	G	1: 179,450,378 (GRCm39)	D614G	possibly damaging	Het
Cpq	T	C	15: 33,213,008 (GRCm39)	I9T	probably benign	Het
Cyp2j6	T	C	4: 96,419,936 (GRCm39)	H265R	probably damaging	Het
Dctn1	T	A	6: 83,168,621 (GRCm39)	M458K	probably damaging	Het
Disc1	A	C	8: 125,858,899 (GRCm39)	I454L	probably benign	Het
Dnaja4	A	G	9: 54,607,023 (GRCm39)	E4G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eipr1	C	A	12: 28,878,855 (GRCm39)	N136K	probably benign	Het
Fut11	A	G	14: 20,746,229 (GRCm39)	N357S	probably damaging	Het
Gbp2b	C	T	3: 142,304,015 (GRCm39)	P37S	probably damaging	Het
Ghr	T	G	15: 3,349,622 (GRCm39)	K519Q	probably damaging	Het
Gipr	C	A	7: 18,893,689 (GRCm39)	C328F	probably damaging	Het
Gm27013	A	T	6: 130,654,633 (GRCm39)	N276K	probably damaging	Het
Got2	C	A	8: 96,598,951 (GRCm39)	K150N	probably benign	Het
Gucy2c	A	G	6: 136,744,033 (GRCm39)	S189P	possibly damaging	Het
H2-T5	C	A	17: 36,476,308 (GRCm39)	G347*	probably null	Het
Hells	T	C	19: 38,932,189 (GRCm39)	V153A	probably benign	Het
Ighd	G	A	12: 113,378,047 (GRCm39)		probably benign	Het
Inhca	C	T	9: 103,143,420 (GRCm39)	V361M	probably damaging	Het
Itga4	A	C	2: 79,145,973 (GRCm39)	D725A	possibly damaging	Het
Itgbl1	T	A	14: 124,204,151 (GRCm39)	L414Q	possibly damaging	Het
Kat2b-ps	A	G	5: 93,539,585 (GRCm39)		noncoding transcript	Het
Lrrc1	A	T	9: 77,364,740 (GRCm39)	S192T	probably benign	Het
Mc2r	A	T	18: 68,541,274 (GRCm39)	N6K	probably benign	Het
Moxd2	A	C	6: 40,856,270 (GRCm39)	L534W	probably damaging	Het
Myh4	A	T	11: 67,146,235 (GRCm39)	D1431V	probably damaging	Het
Naa15	T	A	3: 51,364,706 (GRCm39)		probably null	Het
Naa16	G	A	14: 79,614,855 (GRCm39)	T215I	possibly damaging	Het
Ntng1	A	T	3: 110,042,645 (GRCm39)	Y60*	probably null	Het
Or1e29	T	C	11: 73,668,084 (GRCm39)	Y23C	possibly damaging	Het
Or2g25	A	T	17: 37,970,612 (GRCm39)	V204E	probably damaging	Het
Pccb	T	C	9: 100,867,296 (GRCm39)		probably benign	Het
Pcnx1	C	A	12: 82,041,713 (GRCm39)	P2115Q	probably damaging	Het
Pfkfb3	G	A	2: 11,488,825 (GRCm39)	T313I	probably damaging	Het
Pld1	A	G	3: 28,178,731 (GRCm39)	N875S	probably damaging	Het
Ptpn20	A	T	14: 33,336,398 (GRCm39)	D79V	possibly damaging	Het
Rabgap1l	C	A	1: 160,549,809 (GRCm39)	V266L	probably damaging	Het
Reep6	A	G	10: 80,171,009 (GRCm39)	D295G	probably damaging	Het
Sass6	T	C	3: 116,403,947 (GRCm39)	L195P	probably damaging	Het
Slc25a27	A	G	17: 43,977,821 (GRCm39)	S25P	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sspo	T	C	6: 48,465,405 (GRCm39)	V71A	possibly damaging	Het
Stab1	G	A	14: 30,881,261 (GRCm39)	L590F	probably damaging	Het
Stard9	T	A	2: 120,527,500 (GRCm39)	Y1252*	probably null	Het
Syde2	T	A	3: 145,712,881 (GRCm39)	D1006E	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Tmc5	G	A	7: 118,244,609 (GRCm39)	A496T	possibly damaging	Het
Ttn	A	G	2: 76,566,704 (GRCm39)	V28063A	probably damaging	Het
Usp25	A	C	16: 76,874,007 (GRCm39)	I528L	probably benign	Het
Vmn1r58	C	T	7: 5,413,666 (GRCm39)	S188N	probably benign	Het
Wfikkn2	A	T	11: 94,129,173 (GRCm39)	C323S	probably damaging	Het
Zfy1	A	C	Y: 732,964 (GRCm39)	S290A	unknown	Het

Other mutations in Smok2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1442:Smok2b	UTSW	17	13,454,390 (GRCm39)	missense	probably damaging	0.99
R5538:Smok2b	UTSW	17	13,454,440 (GRCm39)	missense	possibly damaging	0.72
R5704:Smok2b	UTSW	17	13,455,231 (GRCm39)	missense	probably damaging	1.00
R6978:Smok2b	UTSW	17	13,455,295 (GRCm39)	makesense	probably null
R7598:Smok2b	UTSW	17	13,454,973 (GRCm39)	nonsense	probably null
R7701:Smok2b	UTSW	17	13,453,767 (GRCm39)	start gained	probably benign
R7940:Smok2b	UTSW	17	13,455,046 (GRCm39)	missense	possibly damaging	0.85
R8211:Smok2b	UTSW	17	13,454,680 (GRCm39)	missense	probably benign	0.00
R8483:Smok2b	UTSW	17	13,453,908 (GRCm39)	missense	probably benign
R8957:Smok2b	UTSW	17	13,453,873 (GRCm39)	missense	probably damaging	1.00
R9141:Smok2b	UTSW	17	13,453,637 (GRCm39)	splice site	probably null
R9142:Smok2b	UTSW	17	13,453,637 (GRCm39)	splice site	probably null
R9243:Smok2b	UTSW	17	13,453,637 (GRCm39)	splice site	probably null
R9363:Smok2b	UTSW	17	13,453,637 (GRCm39)	splice site	probably null
R9432:Smok2b	UTSW	17	13,453,881 (GRCm39)	missense	probably damaging	0.97
R9558:Smok2b	UTSW	17	13,453,884 (GRCm39)	missense	probably damaging	1.00
R9709:Smok2b	UTSW	17	13,454,052 (GRCm39)	missense	possibly damaging	0.91
R9721:Smok2b	UTSW	17	13,453,865 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAAGCTCATATCCAAGCCCG -3'
(R):5'- TACCCTGGTTGTGGCAGTAG -3'

Sequencing Primer
(F):5'- AAGCCCGCTATCTCTGACATGG -3'
(R):5'- GTTCATAGCACTTAAGAGCTGC -3'

Posted On

2017-02-17