Mutagenetix > Incidental Mutation

Incidental Mutation 'R8957:Smok2b'

682126

Institutional Source

Beutler Lab

Gene Symbol

Smok2b

Ensembl Gene

ENSMUSG00000073457

Gene Name

sperm motility kinase 2B

Synonyms

LOC236574

MMRRC Submission

068793-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8957 (G1)

Quality Score

117.008

Status

Validated

Chromosome

Chromosomal Location

13449150-13456076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13453873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 11 (L11Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124967 (fasta)

Gene Model

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

AlphaFold

Q9QYZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000059824
AA Change: L11Q

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

SMART Domains

Protein: ENSMUSP00000061516
Gene: ENSMUSG00000073457
AA Change: L11Q

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 damaging
Transcript: ENSMUST00000162940
AA Change: L11Q

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

SMART Domains

Protein: ENSMUSP00000124967
Gene: ENSMUSG00000073457
AA Change: L11Q

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: 99.5%
20x: 98.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	G	5: 114,951,891 (GRCm39)	V28A	probably benign	Het
Abca12	T	A	1: 71,360,784 (GRCm39)	D503V	possibly damaging	Het
Aco2	A	T	15: 81,773,701 (GRCm39)		probably benign	Het
Aff1	A	G	5: 103,981,634 (GRCm39)	Q591R	possibly damaging	Het
Ankle2	G	A	5: 110,379,121 (GRCm39)	A7T	possibly damaging	Het
Ankrd12	T	C	17: 66,291,491 (GRCm39)	N1314S	probably benign	Het
Apeh	A	T	9: 107,969,572 (GRCm39)	M216K	probably benign	Het
Armh1	T	C	4: 117,087,104 (GRCm39)	Y187C	probably damaging	Het
Ascc3	C	A	10: 50,576,208 (GRCm39)	A821E	probably damaging	Het
Atf7ip	A	G	6: 136,543,701 (GRCm39)	D650G	probably null	Het
Cav1	T	A	6: 17,339,235 (GRCm39)	F107I	probably benign	Het
Ccdc146	A	G	5: 21,514,585 (GRCm39)		probably benign	Het
Ccdc57	A	G	11: 120,776,861 (GRCm39)	I513T	probably benign	Het
Ccrl2	T	C	9: 110,884,557 (GRCm39)	R314G	probably benign	Het
Cd1d1	T	C	3: 86,906,140 (GRCm39)	D45G	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Col4a1	T	A	8: 11,295,906 (GRCm39)		probably benign	Het
Cux2	C	T	5: 121,999,011 (GRCm39)	G1310R	probably benign	Het
Cyld	G	T	8: 89,432,410 (GRCm39)	R136L	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Dchs2	G	A	3: 83,189,573 (GRCm39)	V1646M		Het
Des	A	T	1: 75,340,295 (GRCm39)	I401F	probably damaging	Het
Dis3	T	C	14: 99,337,027 (GRCm39)	D28G	probably damaging	Het
Dnai4	T	C	4: 102,953,950 (GRCm39)	D83G	probably damaging	Het
Ehd1	A	G	19: 6,344,439 (GRCm39)	Y233C	probably damaging	Het
Fcrlb	G	A	1: 170,735,536 (GRCm39)	A246V	probably benign	Het
Firrm	C	T	1: 163,792,335 (GRCm39)	R554H	probably damaging	Het
Fnta	T	C	8: 26,489,541 (GRCm39)	R357G	probably benign	Het
Fpgs	T	C	2: 32,575,354 (GRCm39)	D420G	probably damaging	Het
Hdac4	T	C	1: 91,873,757 (GRCm39)		probably null	Het
Hdhd5	C	T	6: 120,495,404 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,772,154 (GRCm39)	R1342C	probably damaging	Het
Isyna1	T	G	8: 71,049,372 (GRCm39)	L428R	probably damaging	Het
Jmjd4	C	T	11: 59,340,884 (GRCm39)		probably benign	Het
Klra1	A	G	6: 130,357,609 (GRCm39)	V6A	possibly damaging	Het
Klrb1b	T	A	6: 128,795,522 (GRCm39)	K124N	probably benign	Het
Krtap19-3	T	C	16: 88,674,833 (GRCm39)		probably benign	Het
Lrrc74b	T	C	16: 17,378,976 (GRCm39)	T34A	probably benign	Het
Map9	A	G	3: 82,278,687 (GRCm39)	Y229C	probably benign	Het
Mmp28	T	C	11: 83,334,636 (GRCm39)	I373V	possibly damaging	Het
Mpdz	A	T	4: 81,251,216 (GRCm39)	Y1086*	probably null	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	A	G	11: 67,141,780 (GRCm39)	K880E	possibly damaging	Het
Nav2	T	G	7: 49,220,964 (GRCm39)	V1656G	probably damaging	Het
Or12d13	A	G	17: 37,647,382 (GRCm39)	V247A	probably damaging	Het
Or1a1	T	A	11: 74,086,772 (GRCm39)	S148T	probably damaging	Het
Or5b101	T	A	19: 13,004,881 (GRCm39)	I271F	probably benign	Het
Pate2	T	C	9: 35,596,911 (GRCm39)	W100R	probably benign	Het
Pcdhb11	A	C	18: 37,554,692 (GRCm39)	K7N	probably benign	Het
Pcdhb11	A	G	18: 37,555,872 (GRCm39)	T401A	probably benign	Het
Pgam1	T	A	19: 41,905,215 (GRCm39)	I183N	possibly damaging	Het
Pou5f1	T	G	17: 35,821,366 (GRCm39)	L326R	possibly damaging	Het
Rbm34	A	C	8: 127,692,208 (GRCm39)	V178G	probably benign	Het
Rc3h2	A	G	2: 37,289,660 (GRCm39)	V384A	possibly damaging	Het
Sec62	T	A	3: 30,864,671 (GRCm39)	F178L	unknown	Het
Slco1a6	T	C	6: 142,091,493 (GRCm39)	N69S	probably damaging	Het
Snai2	T	C	16: 14,526,113 (GRCm39)	S255P	probably damaging	Het
Spata31h1	A	G	10: 82,124,908 (GRCm39)	Y2701H	probably benign	Het
Tesk2	T	A	4: 116,659,910 (GRCm39)	F343I	probably benign	Het
Tmem106c	A	T	15: 97,867,481 (GRCm39)	I222F	probably benign	Het
Tmub1	G	T	5: 24,651,775 (GRCm39)	T63K	probably benign	Het
Tnip3	A	G	6: 65,582,843 (GRCm39)	T217A	probably benign	Het
Vmn2r10	T	G	5: 109,149,780 (GRCm39)	K421N	possibly damaging	Het
Zfp975	A	T	7: 42,311,157 (GRCm39)	H485Q	probably damaging	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
R5087:Smok2b	UTSW	17	13,454,011 (GRCm39)	missense	probably benign	0.03
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
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'- TAGTGCTGCTGAGATGTGCC -3'
(R):5'- TGGTCTCAATGACTTGAAGGAG -3'

Sequencing Primer
(F):5'- GCTGAGATGTGCCCCTCTC -3'
(R):5'- GAGAGATGATATTCGGATGATCGGCC -3'

Posted On

2021-08-31