Mutagenetix > Incidental Mutation

Incidental Mutation 'R4870:Tssk4'

376524

Institutional Source

Beutler Lab

Gene Symbol

Tssk4

Ensembl Gene

ENSMUSG00000007591

Gene Name

testis-specific serine kinase 4

Synonyms

4933424F08Rik, 1700020B19Rik

MMRRC Submission

042480-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55887641-55889996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55889272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 256 (T256I)

Ref Sequence

ENSEMBL: ENSMUSP00000154143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007735] [ENSMUST00000164809] [ENSMUST00000226497] [ENSMUST00000226591] [ENSMUST00000227297] [ENSMUST00000228041] [ENSMUST00000228395]

AlphaFold

Q9D411

Predicted Effect

probably benign
Transcript: ENSMUST00000007735
AA Change: T266I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000007735
Gene: ENSMUSG00000007591
AA Change: T266I

Domain	Start	End	E-Value	Type
Pfam:Pkinase	25	280	1.1e-54	PFAM
Pfam:Pkinase_Tyr	25	280	7.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164809
AA Change: T266I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127728
Gene: ENSMUSG00000007591
AA Change: T266I

Domain	Start	End	E-Value	Type
Pfam:Pkinase	25	281	4e-56	PFAM
Pfam:Pkinase_Tyr	25	281	3.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226497
AA Change: T262I

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000226591
AA Change: T256I

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000227297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227568

Predicted Effect

probably benign
Transcript: ENSMUST00000228041
AA Change: T256I

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000228395
AA Change: T266I

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0923

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,540 (GRCm39)	I1285N	probably damaging	Het
Abcc8	G	A	7: 45,756,683 (GRCm39)	R721*	probably null	Het
Alox8	T	C	11: 69,077,394 (GRCm39)	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,399,344 (GRCm39)		probably null	Het
Cdc14a	A	G	3: 116,217,109 (GRCm39)	I9T	probably benign	Het
Ceacam18	T	C	7: 43,291,328 (GRCm39)	C257R	probably damaging	Het
Cilp	T	C	9: 65,186,980 (GRCm39)	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,372,539 (GRCm39)		probably benign	Het
Csnk1d	A	T	11: 120,874,014 (GRCm39)		probably benign	Het
Cyp11b2	A	G	15: 74,724,995 (GRCm39)	S285P	probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dnajc14	T	C	10: 128,653,219 (GRCm39)	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,512,284 (GRCm39)	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,229,117 (GRCm39)	C772S	unknown	Het
F2rl1	A	T	13: 95,650,492 (GRCm39)	F130Y	probably damaging	Het
Galk2	C	G	2: 125,771,557 (GRCm39)	S194*	probably null	Het
Garre1	C	A	7: 33,984,312 (GRCm39)	V104L	possibly damaging	Het
Gpbp1l1	A	G	4: 116,430,714 (GRCm39)	T62A	probably benign	Het
H2-Q10	A	T	17: 35,781,357 (GRCm39)	D53V	probably damaging	Het
H2-T22	T	C	17: 36,349,924 (GRCm39)	K356R	probably benign	Het
Insrr	G	A	3: 87,718,911 (GRCm39)	V956M	probably damaging	Het
Ints7	A	G	1: 191,328,443 (GRCm39)	T239A	probably damaging	Het
Isl1	A	G	13: 116,444,806 (GRCm39)		probably benign	Het
Kcng2	A	G	18: 80,366,083 (GRCm39)	C90R	probably benign	Het
Kif3c	C	T	12: 3,451,735 (GRCm39)	P171S	probably damaging	Het
Knl1	A	G	2: 118,911,994 (GRCm39)	T1704A	probably benign	Het
Lats1	A	G	10: 7,581,549 (GRCm39)	Y778C	probably damaging	Het
Limd2	T	C	11: 106,050,215 (GRCm39)	M1V	probably null	Het
Mcm10	A	T	2: 5,008,970 (GRCm39)	I333N	probably damaging	Het
Mipep	T	A	14: 61,040,329 (GRCm39)	L283*	probably null	Het
Mixl1	A	G	1: 180,522,237 (GRCm39)	S215P	probably benign	Het
Mmp21	A	G	7: 133,280,406 (GRCm39)	L188P	probably damaging	Het
Mob1a	T	C	6: 83,317,221 (GRCm39)	S213P	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ndufaf6	T	C	4: 11,060,917 (GRCm39)	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651 (GRCm39)	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,027,032 (GRCm39)	L57Q	probably damaging	Het
Or52e19b	T	A	7: 103,032,840 (GRCm39)	D123V	probably damaging	Het
Or5d35	T	C	2: 87,855,804 (GRCm39)	L246P	probably damaging	Het
Pirb	T	A	7: 3,715,661 (GRCm39)	M839L	probably benign	Het
Plcl2	A	G	17: 50,914,254 (GRCm39)	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,876,771 (GRCm39)	N99S	probably benign	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rptn	A	T	3: 93,303,776 (GRCm39)	K370*	probably null	Het
Simc1	A	G	13: 54,687,576 (GRCm39)	D115G	probably null	Het
Stab1	T	A	14: 30,864,000 (GRCm39)	N136I	probably benign	Het
Syt4	T	A	18: 31,580,409 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,038,106 (GRCm39)	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tenm2	A	T	11: 35,969,396 (GRCm39)	D847E	probably damaging	Het
Th	G	T	7: 142,447,834 (GRCm39)	D321E	probably benign	Het
Tmem44	A	T	16: 30,359,591 (GRCm39)	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,087,122 (GRCm39)	L178P	probably damaging	Het
Trp63	A	G	16: 25,684,968 (GRCm39)	*285W	probably null	Het
Tsen34	T	C	7: 3,697,380 (GRCm39)		probably benign	Het
Ttc17	A	T	2: 94,196,954 (GRCm39)	N464K	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ubn1	A	G	16: 4,895,177 (GRCm39)	E741G	probably damaging	Het
Urad	T	A	5: 147,252,264 (GRCm39)	I63F	probably damaging	Het
Vcan	T	C	13: 89,852,858 (GRCm39)	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,486,639 (GRCm39)	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,060,793 (GRCm39)	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917 (GRCm39)	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Znfx1	A	C	2: 166,897,189 (GRCm39)	F578L	probably benign	Het

Other mutations in Tssk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Tssk4	APN	14	55,888,010 (GRCm39)	missense	probably damaging	1.00
IGL02943:Tssk4	APN	14	55,889,023 (GRCm39)	missense	probably damaging	1.00
IGL03082:Tssk4	APN	14	55,888,518 (GRCm39)	missense	probably damaging	1.00
IGL03281:Tssk4	APN	14	55,887,885 (GRCm39)	missense	possibly damaging	0.86
R0201:Tssk4	UTSW	14	55,889,017 (GRCm39)	missense	probably damaging	1.00
R0201:Tssk4	UTSW	14	55,889,016 (GRCm39)	nonsense	probably null
R1655:Tssk4	UTSW	14	55,889,152 (GRCm39)	missense	probably damaging	1.00
R1660:Tssk4	UTSW	14	55,888,029 (GRCm39)	missense	probably null	0.90
R1743:Tssk4	UTSW	14	55,888,488 (GRCm39)	missense	probably damaging	1.00
R2103:Tssk4	UTSW	14	55,888,997 (GRCm39)	missense	probably damaging	1.00
R3431:Tssk4	UTSW	14	55,889,152 (GRCm39)	missense	probably damaging	1.00
R3432:Tssk4	UTSW	14	55,889,152 (GRCm39)	missense	probably damaging	1.00
R4113:Tssk4	UTSW	14	55,887,830 (GRCm39)	missense	probably benign	0.00
R4957:Tssk4	UTSW	14	55,889,266 (GRCm39)	missense	probably damaging	1.00
R5147:Tssk4	UTSW	14	55,888,430 (GRCm39)	missense	possibly damaging	0.56
R6785:Tssk4	UTSW	14	55,887,932 (GRCm39)	missense	probably damaging	1.00
R6917:Tssk4	UTSW	14	55,889,864 (GRCm39)	missense	probably benign	0.13
R7748:Tssk4	UTSW	14	55,888,569 (GRCm39)	missense	probably damaging	1.00
R9043:Tssk4	UTSW	14	55,889,211 (GRCm39)	missense	probably damaging	0.99
R9189:Tssk4	UTSW	14	55,887,904 (GRCm39)	missense	probably benign	0.00
Z1088:Tssk4	UTSW	14	55,888,380 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCTTCTTACCGCCAAATG -3'
(R):5'- ACTTTGAGTAGGAGCTCTGGC -3'

Sequencing Primer
(F):5'- CAGACCTACTGTGGCAGCTTTG -3'
(R):5'- GCTCTGGCATGACAAAAGC -3'

Posted On

2016-03-17