Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03006:Tsks'

407579

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsks

Ensembl Gene

ENSMUSG00000059891

Gene Name

testis-specific serine kinase substrate

Synonyms

clone 4, Tsks, Tssks1, Stk22s1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03006

Quality Score

Status

Chromosome

Chromosomal Location

44592628-44607459 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 44600198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080233] [ENSMUST00000120929] [ENSMUST00000207719]

AlphaFold

O54887

Predicted Effect

probably benign
Transcript: ENSMUST00000080233

SMART Domains

Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891

Domain	Start	End	E-Value	Type
Pfam:TSKS	26	525	5.7e-281	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120929

SMART Domains

Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891

Domain	Start	End	E-Value	Type
Pfam:TSKS	26	585	8.1e-297	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207719

Predicted Effect

probably benign
Transcript: ENSMUST00000208475

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of a small family of testis-specific serine/threonine kinases. This gene may play a role in testicular physiology or spermiogenesis. Its expression is restricted to the testis during the last stages of spermatid maturation. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,718,671 (GRCm39)	S21C	probably damaging	Het
2210408I21Rik	T	C	13: 77,471,891 (GRCm39)		probably null	Het
Abcc3	T	C	11: 94,259,421 (GRCm39)	D340G	probably benign	Het
Adamts17	G	T	7: 66,728,095 (GRCm39)	R879L	possibly damaging	Het
Adissp	A	C	2: 130,993,634 (GRCm39)	D22E	probably damaging	Het
Cacna1f	C	A	X: 7,493,142 (GRCm39)	T1275K	probably damaging	Het
Csmd2	T	A	4: 128,374,558 (GRCm39)		probably benign	Het
Dll1	C	T	17: 15,593,854 (GRCm39)	R171Q	probably benign	Het
Dnm1	T	A	2: 32,243,133 (GRCm39)	D30V	possibly damaging	Het
Fam184a	G	A	10: 53,574,793 (GRCm39)	S216L	probably damaging	Het
Fbxo33	G	A	12: 59,251,105 (GRCm39)	A470V	probably benign	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Ighv7-1	A	T	12: 113,860,145 (GRCm39)	S82R	probably damaging	Het
Klk1b4	A	G	7: 43,861,019 (GRCm39)	I221V	probably benign	Het
Lama3	T	C	18: 12,601,425 (GRCm39)		probably benign	Het
Lrch1	A	G	14: 75,051,060 (GRCm39)	L359P	probably damaging	Het
Mapk8ip3	T	C	17: 25,120,489 (GRCm39)	T882A	probably benign	Het
Med12	C	T	X: 100,321,684 (GRCm39)	R456W	probably damaging	Het
Mms22l	T	C	4: 24,521,253 (GRCm39)	S267P	probably damaging	Het
Mtpap	G	A	18: 4,375,721 (GRCm39)	G34R	possibly damaging	Het
Nf1	G	A	11: 79,436,257 (GRCm39)	D1966N	probably damaging	Het
Nlrp9c	G	A	7: 26,071,507 (GRCm39)	T867I	probably damaging	Het
Nrap	C	T	19: 56,335,596 (GRCm39)	V941I	probably benign	Het
Or5k1b	T	A	16: 58,581,511 (GRCm39)	K9N	probably benign	Het
Pcdh10	A	G	3: 45,333,937 (GRCm39)	I84V	probably damaging	Het
Polr3d	T	A	14: 70,678,603 (GRCm39)		probably null	Het
Prkar2a	G	T	9: 108,617,640 (GRCm39)	V233L	probably benign	Het
Prl4a1	T	C	13: 28,207,359 (GRCm39)	V211A	probably damaging	Het
Qpct	T	C	17: 79,378,151 (GRCm39)	V107A	probably benign	Het
Rai1	T	C	11: 60,079,031 (GRCm39)	S1032P	possibly damaging	Het
Rims1	G	T	1: 22,367,178 (GRCm39)	T1113K	probably damaging	Het
Rxra	C	T	2: 27,649,657 (GRCm39)	T454I	probably damaging	Het
S100z	T	C	13: 95,615,127 (GRCm39)	I13V	probably damaging	Het
Scp2	T	C	4: 107,948,477 (GRCm39)	K167E	probably benign	Het
Sephs2	A	G	7: 126,872,206 (GRCm39)	F296L	probably benign	Het
Setd1b	A	G	5: 123,286,514 (GRCm39)	E520G	unknown	Het
Slc28a2	G	A	2: 122,283,019 (GRCm39)	V308M	possibly damaging	Het
Smarcad1	T	A	6: 65,060,873 (GRCm39)	I451K	probably benign	Het
Tarbp1	C	T	8: 127,170,881 (GRCm39)	D1040N	probably damaging	Het
Tdrd6	T	C	17: 43,936,323 (GRCm39)	D1575G	probably damaging	Het
Tll1	T	A	8: 64,527,251 (GRCm39)		probably benign	Het
Ttc1	A	T	11: 43,636,147 (GRCm39)	M32K	probably benign	Het
Txlnb	C	T	10: 17,714,723 (GRCm39)	A385V	probably damaging	Het
Zc4h2	T	C	X: 94,687,019 (GRCm39)	H98R	probably damaging	Het

Other mutations in Tsks

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Tsks	APN	7	44,601,982 (GRCm39)	missense	probably damaging	1.00
IGL03065:Tsks	APN	7	44,592,724 (GRCm39)	missense	probably damaging	1.00
IGL03091:Tsks	APN	7	44,607,319 (GRCm39)	missense	possibly damaging	0.54
R0139:Tsks	UTSW	7	44,603,883 (GRCm39)	missense	probably benign
R0619:Tsks	UTSW	7	44,600,258 (GRCm39)	missense	probably damaging	1.00
R3709:Tsks	UTSW	7	44,601,309 (GRCm39)	missense	possibly damaging	0.62
R4273:Tsks	UTSW	7	44,607,353 (GRCm39)	missense	probably damaging	1.00
R4982:Tsks	UTSW	7	44,593,418 (GRCm39)	missense	possibly damaging	0.69
R5664:Tsks	UTSW	7	44,603,208 (GRCm39)	missense	probably damaging	1.00
R5846:Tsks	UTSW	7	44,593,412 (GRCm39)	missense	probably damaging	1.00
R6193:Tsks	UTSW	7	44,603,263 (GRCm39)	missense	probably damaging	0.96
R6567:Tsks	UTSW	7	44,603,305 (GRCm39)	missense	probably damaging	1.00
R7044:Tsks	UTSW	7	44,593,216 (GRCm39)	missense	probably damaging	0.99
R7255:Tsks	UTSW	7	44,602,112 (GRCm39)	missense	probably benign	0.13
R7845:Tsks	UTSW	7	44,603,168 (GRCm39)	splice site	probably null
R8073:Tsks	UTSW	7	44,607,305 (GRCm39)	missense	probably benign
R8162:Tsks	UTSW	7	44,603,296 (GRCm39)	missense	probably damaging	1.00
R8307:Tsks	UTSW	7	44,607,086 (GRCm39)	missense
R8340:Tsks	UTSW	7	44,602,144 (GRCm39)	missense	probably damaging	1.00
R8474:Tsks	UTSW	7	44,600,263 (GRCm39)	missense	probably damaging	1.00
R8911:Tsks	UTSW	7	44,592,694 (GRCm39)	intron	probably benign
R9438:Tsks	UTSW	7	44,607,095 (GRCm39)	nonsense	probably null
R9623:Tsks	UTSW	7	44,605,931 (GRCm39)	missense	possibly damaging	0.85

Posted On

2016-08-02