Mutagenetix > Incidental Mutation

Incidental Mutation 'R9243:Smok2b'

701118

Institutional Source

Beutler Lab

Gene Symbol

Smok2b

Ensembl Gene

ENSMUSG00000073457

Gene Name

sperm motility kinase 2B

Synonyms

LOC236574

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9243 (G1)

Quality Score

183.009

Status

Validated

Chromosome

Chromosomal Location

13449150-13456076 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 13453637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124967 (fasta)

Gene Model

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

AlphaFold

Q9QYZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000059824

SMART Domains

Protein: ENSMUSP00000061516
Gene: ENSMUSG00000073457

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 null
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: 99.7%
20x: 98.9%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,188,035 (GRCm39)	S1816R	probably benign	Het
Appl1	A	T	14: 26,649,710 (GRCm39)	F605L	possibly damaging	Het
Cacna1g	T	A	11: 94,347,893 (GRCm39)	I732F	possibly damaging	Het
Capg	T	A	6: 72,538,070 (GRCm39)	S319T	probably benign	Het
Cdh17	T	A	4: 11,771,333 (GRCm39)	F38L	probably benign	Het
Cep295	T	A	9: 15,243,605 (GRCm39)	N1617I	probably benign	Het
Cep57	C	T	9: 13,738,204 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,195,265 (GRCm39)		probably benign	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
Dock7	A	G	4: 98,857,871 (GRCm39)	V1481A	unknown	Het
Exoc2	T	C	13: 31,109,778 (GRCm39)	K197E	probably benign	Het
Fancg	C	T	4: 43,006,565 (GRCm39)	V330I	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gad2	A	G	2: 22,525,053 (GRCm39)	E279G	possibly damaging	Het
Gria1	A	G	11: 57,128,888 (GRCm39)	Y454C	probably benign	Het
Grik3	C	T	4: 125,601,690 (GRCm39)	R856C	probably benign	Het
Hdac4	C	A	1: 91,900,511 (GRCm39)	R622I	probably damaging	Het
Hdac4	T	C	1: 91,900,512 (GRCm39)	R622G	probably benign	Het
Htt	T	C	5: 35,056,276 (GRCm39)		probably benign	Het
Idh1	A	G	1: 65,207,656 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,861,775 (GRCm39)	S1112G	probably benign	Het
Impg2	A	T	16: 56,051,823 (GRCm39)	S242C	probably damaging	Het
Itgb1	T	A	8: 129,433,587 (GRCm39)	S34T	probably benign	Het
Kcnh8	A	G	17: 53,205,542 (GRCm39)	I546V	probably damaging	Het
Klrd1	T	G	6: 129,568,795 (GRCm39)	M1R	probably null	Het
Krtap16-1	A	T	11: 99,876,644 (GRCm39)	C253*	probably null	Het
Mapk7	A	G	11: 61,384,535 (GRCm39)	I57T	possibly damaging	Het
Msrb2	A	G	2: 19,388,073 (GRCm39)	N74D	probably benign	Het
Myd88	A	T	9: 119,168,773 (GRCm39)	S85T	probably benign	Het
Myo1c	G	T	11: 75,541,437 (GRCm39)		probably benign	Het
Nnt	T	A	13: 119,494,060 (GRCm39)	N674Y	unknown	Het
Nrcam	A	G	12: 44,620,607 (GRCm39)	Y878C	probably damaging	Het
Obscn	T	C	11: 59,023,392 (GRCm39)	T662A	probably benign	Het
Or14j4	T	C	17: 37,921,408 (GRCm39)	Q78R	probably benign	Het
Or4l15	A	G	14: 50,197,881 (GRCm39)	V216A	probably benign	Het
Or51ah3	A	G	7: 103,209,782 (GRCm39)	S33G	probably benign	Het
Or8k40	A	G	2: 86,584,282 (GRCm39)	S267P	possibly damaging	Het
Pappa2	C	A	1: 158,763,763 (GRCm39)	V583L	probably damaging	Het
Parp1	T	G	1: 180,415,680 (GRCm39)	S500A	probably benign	Het
Pcdhb17	A	G	18: 37,619,989 (GRCm39)	D593G	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Prrc1	C	G	18: 57,496,271 (GRCm39)	S74W	possibly damaging	Het
Rag2	G	A	2: 101,460,419 (GRCm39)	G243D	probably damaging	Het
Sgpp1	T	C	12: 75,781,961 (GRCm39)	E126G	probably damaging	Het
Skic2	G	A	17: 35,064,198 (GRCm39)	T496M	probably benign	Het
Slc17a1	C	A	13: 24,064,432 (GRCm39)	F329L	probably benign	Het
Slc52a3	G	A	2: 151,846,512 (GRCm39)	V158I	probably benign	Het
Slf1	T	A	13: 77,273,575 (GRCm39)	T75S	possibly damaging	Het
Tmem125	A	T	4: 118,399,089 (GRCm39)	V114E	probably damaging	Het
Ube2f	A	T	1: 91,181,980 (GRCm39)		probably benign	Het
Zdhhc19	T	A	16: 32,315,992 (GRCm39)	F30I	probably damaging	Het
Zfp236	T	C	18: 82,662,050 (GRCm39)		probably benign	Het
Zfp462	C	A	4: 55,009,595 (GRCm39)	Y520*	probably null	Het
Zzz3	A	G	3: 152,133,920 (GRCm39)	D326G	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
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
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'- TTTCCCTGAGATATGAGAGTTGTACTA -3'
(R):5'- TGACTTCTGTTGACTCCCAGA -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CAGAGCCCACTTGAGGTAAC -3'

Posted On

2022-03-25