Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Tssk4'

189050

Institutional Source

Beutler Lab

Gene Symbol

Tssk4

Ensembl Gene

ENSMUSG00000007591

Gene Name

testis-specific serine kinase 4

Synonyms

1700020B19Rik, 4933424F08Rik

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

R1655 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

55650184-55652539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55651695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 226 (N226S)

Ref Sequence

ENSEMBL: ENSMUSP00000154783 (fasta)

Gene Model

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

AlphaFold

Q9D411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007735
AA Change: N226S

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000007735
Gene: ENSMUSG00000007591
AA Change: N226S

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 damaging
Transcript: ENSMUST00000164809
AA Change: N226S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127728
Gene: ENSMUSG00000007591
AA Change: N226S

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 damaging
Transcript: ENSMUST00000226497
AA Change: N222S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226591
AA Change: N216S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000227297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227568

Predicted Effect

probably damaging
Transcript: ENSMUST00000228041
AA Change: N216S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228395
AA Change: N226S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.2216

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866		probably null	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216	Y346*	probably null	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	possibly damaging	Het

Other mutations in Tssk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Tssk4	APN	14	55650553	missense	probably damaging	1.00
IGL02943:Tssk4	APN	14	55651566	missense	probably damaging	1.00
IGL03082:Tssk4	APN	14	55651061	missense	probably damaging	1.00
IGL03281:Tssk4	APN	14	55650428	missense	possibly damaging	0.86
R0201:Tssk4	UTSW	14	55651559	nonsense	probably null
R0201:Tssk4	UTSW	14	55651560	missense	probably damaging	1.00
R1660:Tssk4	UTSW	14	55650572	missense	probably null	0.90
R1743:Tssk4	UTSW	14	55651031	missense	probably damaging	1.00
R2103:Tssk4	UTSW	14	55651540	missense	probably damaging	1.00
R3431:Tssk4	UTSW	14	55651695	missense	probably damaging	1.00
R3432:Tssk4	UTSW	14	55651695	missense	probably damaging	1.00
R4113:Tssk4	UTSW	14	55650373	missense	probably benign	0.00
R4870:Tssk4	UTSW	14	55651815	missense	probably benign	0.38
R4957:Tssk4	UTSW	14	55651809	missense	probably damaging	1.00
R5147:Tssk4	UTSW	14	55650973	missense	possibly damaging	0.56
R6785:Tssk4	UTSW	14	55650475	missense	probably damaging	1.00
R6917:Tssk4	UTSW	14	55652407	missense	probably benign	0.13
R7748:Tssk4	UTSW	14	55651112	missense	probably damaging	1.00
R9043:Tssk4	UTSW	14	55651754	missense	probably damaging	0.99
R9189:Tssk4	UTSW	14	55650447	missense	probably benign	0.00
Z1088:Tssk4	UTSW	14	55650923	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTTGGAGAACCTGTTGCTGGAC -3'
(R):5'- CCTTGCCACCACTTTGAGTAGGAG -3'

Sequencing Primer
(F):5'- GTTGCTGGACAAGCGGG -3'
(R):5'- CATGGGTCATCCCTAAGGC -3'

Posted On

2014-05-09