Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Tsks'

384918

Institutional Source

Beutler Lab

Gene Symbol

Tsks

Ensembl Gene

ENSMUSG00000059891

Gene Name

testis-specific serine kinase substrate

Synonyms

Tssks1, Stk22s1, Tsks, clone 4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4982 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

44943204-44958035 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44943994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 128 (T128I)

Ref Sequence

ENSEMBL: ENSMUSP00000079122 (fasta)

Gene Model

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

AlphaFold

O54887

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080233
AA Change: T128I

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891
AA Change: T128I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120929
AA Change: T128I

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891
AA Change: T128I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207719
AA Change: T67I

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348 (GRCm38)	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230 (GRCm38)	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343 (GRCm38)	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,932,208 (GRCm38)		probably null	Het
Bbs2	A	G	8: 94,082,354 (GRCm38)		probably null	Het
Bcl11b	A	T	12: 107,965,772 (GRCm38)	C180*	probably null	Het
Bltp3a	T	C	17: 27,886,606 (GRCm38)	F702S	probably benign	Het
Bod1l	A	G	5: 41,820,473 (GRCm38)	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352 (GRCm38)	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241 (GRCm38)	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571 (GRCm38)	I196N	probably damaging	Het
Chsy3	T	A	18: 59,409,767 (GRCm38)	I659N	possibly damaging	Het
Chsy3	C	T	18: 59,409,575 (GRCm38)	S595L	probably benign	Het
Cntrob	T	A	11: 69,311,362 (GRCm38)		probably null	Het
Col5a2	G	A	1: 45,389,458 (GRCm38)	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136 (GRCm38)		probably null	Het
Ctnnbl1	C	T	2: 157,836,553 (GRCm38)	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387 (GRCm38)	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,682,602 (GRCm38)	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564 (GRCm38)	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Homo
Fam171a1	G	A	2: 3,178,468 (GRCm38)		probably null	Het
Fam222b	T	C	11: 78,154,743 (GRCm38)	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651 (GRCm38)		probably benign	Het
Fes	T	C	7: 80,387,204 (GRCm38)	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999 (GRCm38)	V51A	probably benign	Het
Gpr75	C	A	11: 30,891,462 (GRCm38)	H122Q	probably damaging	Het
Gpr75	C	T	11: 30,891,463 (GRCm38)	L123F	possibly damaging	Het
Greb1	A	G	12: 16,724,761 (GRCm38)	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512 (GRCm38)	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624 (GRCm38)	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994 (GRCm38)	H221L	probably damaging	Het
Igsf3	T	C	3: 101,435,667 (GRCm38)	V540A	probably benign	Het
Il10ra	A	G	9: 45,269,059 (GRCm38)	L5S	probably damaging	Het
Klra2	A	T	6: 131,220,189 (GRCm38)	D282E	probably benign	Het
Lyst	T	A	13: 13,725,954 (GRCm38)	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129 (GRCm38)	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789 (GRCm38)	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327 (GRCm38)	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332 (GRCm38)	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456 (GRCm38)		probably benign	Het
Mybbp1a	T	C	11: 72,445,214 (GRCm38)	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767 (GRCm38)	E1827V	probably damaging	Het
Or1j14	A	T	2: 36,527,397 (GRCm38)		probably null	Het
Or2h15	A	T	17: 38,130,577 (GRCm38)	I205N	probably damaging	Het
Or5p75-ps1	T	A	7: 108,508,648 (GRCm38)	Y197*	probably null	Het
Or8b8	C	A	9: 37,897,515 (GRCm38)	T37N	probably damaging	Het
Os9	C	T	10: 127,121,051 (GRCm38)	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607 (GRCm38)	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423 (GRCm38)	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294 (GRCm38)		probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm38)		probably benign	Het
Phtf1	T	A	3: 103,998,708 (GRCm38)	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996 (GRCm38)	L913R	probably damaging	Het
Pld1	C	A	3: 28,031,298 (GRCm38)	A201D	probably damaging	Het
Rorb	T	A	19: 18,977,688 (GRCm38)	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606 (GRCm38)	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754 (GRCm38)	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874 (GRCm38)	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234 (GRCm38)	S219P	probably benign	Het
Sp8	C	T	12: 118,848,425 (GRCm38)	T5I	probably damaging	Het
Tanc1	A	G	2: 59,799,943 (GRCm38)	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096 (GRCm38)	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074 (GRCm38)	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020 (GRCm38)	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815 (GRCm38)	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504 (GRCm38)	*310W	probably null	Het
Vmn1r175	A	T	7: 23,809,069 (GRCm38)	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865 (GRCm38)	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465 (GRCm38)	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667 (GRCm38)		probably null	Het

Other mutations in Tsks

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Tsks	APN	7	44,952,558 (GRCm38)	missense	probably damaging	1.00
IGL03006:Tsks	APN	7	44,950,774 (GRCm38)	unclassified	probably benign
IGL03065:Tsks	APN	7	44,943,300 (GRCm38)	missense	probably damaging	1.00
IGL03091:Tsks	APN	7	44,957,895 (GRCm38)	missense	possibly damaging	0.54
R0139:Tsks	UTSW	7	44,954,459 (GRCm38)	missense	probably benign
R0619:Tsks	UTSW	7	44,950,834 (GRCm38)	missense	probably damaging	1.00
R3709:Tsks	UTSW	7	44,951,885 (GRCm38)	missense	possibly damaging	0.62
R4273:Tsks	UTSW	7	44,957,929 (GRCm38)	missense	probably damaging	1.00
R5664:Tsks	UTSW	7	44,953,784 (GRCm38)	missense	probably damaging	1.00
R5846:Tsks	UTSW	7	44,943,988 (GRCm38)	missense	probably damaging	1.00
R6193:Tsks	UTSW	7	44,953,839 (GRCm38)	missense	probably damaging	0.96
R6567:Tsks	UTSW	7	44,953,881 (GRCm38)	missense	probably damaging	1.00
R7044:Tsks	UTSW	7	44,943,792 (GRCm38)	missense	probably damaging	0.99
R7255:Tsks	UTSW	7	44,952,688 (GRCm38)	missense	probably benign	0.13
R7845:Tsks	UTSW	7	44,953,744 (GRCm38)	splice site	probably null
R8073:Tsks	UTSW	7	44,957,881 (GRCm38)	missense	probably benign
R8162:Tsks	UTSW	7	44,953,872 (GRCm38)	missense	probably damaging	1.00
R8307:Tsks	UTSW	7	44,957,662 (GRCm38)	missense
R8340:Tsks	UTSW	7	44,952,720 (GRCm38)	missense	probably damaging	1.00
R8474:Tsks	UTSW	7	44,950,839 (GRCm38)	missense	probably damaging	1.00
R8911:Tsks	UTSW	7	44,943,270 (GRCm38)	intron	probably benign
R9438:Tsks	UTSW	7	44,957,671 (GRCm38)	nonsense	probably null
R9623:Tsks	UTSW	7	44,956,507 (GRCm38)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- ACTGGTGCCTGAACCTCAAG -3'
(R):5'- CTCATCTTAGGCTTTCCGGG -3'

Sequencing Primer
(F):5'- TGAACCTCAAGCGGTCCTCTG -3'
(R):5'- GTGGTAGAACTTGCCTAGAACCCTC -3'

Posted On

2016-05-10