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

4933424F08Rik, 1700020B19Rik

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R1655 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

55887641-55889996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55889152 bp (GRCm39)

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
A730061H03Rik	A	T	14: 55,797,790 (GRCm39)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm39)	A1582T	probably benign	Het
Acot8	A	T	2: 164,645,028 (GRCm39)	S52T	probably benign	Het
Atcay	C	T	10: 81,049,231 (GRCm39)	V124M	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,222,436 (GRCm39)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,379,792 (GRCm39)	H148L	probably benign	Het
Clstn3	A	G	6: 124,414,386 (GRCm39)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,248,524 (GRCm39)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,826,341 (GRCm39)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,080,543 (GRCm39)	T19K	unknown	Het
Disp1	A	T	1: 182,868,568 (GRCm39)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,364,680 (GRCm39)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,182,715 (GRCm39)	V205I	possibly damaging	Het
Dst	G	T	1: 34,321,657 (GRCm39)	G4391*	probably null	Het
Dytn	A	G	1: 63,700,357 (GRCm39)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,752,786 (GRCm39)		probably null	Het
Ermn	C	T	2: 57,942,596 (GRCm39)	V45I	probably benign	Het
Fat4	T	C	3: 39,011,467 (GRCm39)	V2189A	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,535 (GRCm39)	N1076Y	probably damaging	Het
Filip1l	T	C	16: 57,392,214 (GRCm39)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,229,558 (GRCm39)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,730,110 (GRCm39)	E227*	probably null	Het
Gsdmc	C	T	15: 63,651,892 (GRCm39)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,601,881 (GRCm39)	V248F	probably damaging	Het
Helz2	T	C	2: 180,875,940 (GRCm39)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,506,084 (GRCm39)	V3814A	probably benign	Het
Hoatz	A	T	9: 50,994,921 (GRCm39)	I136N	probably damaging	Het
Ifna7	A	G	4: 88,734,897 (GRCm39)	T145A	probably benign	Het
Itgam	T	A	7: 127,714,335 (GRCm39)	M947K	probably benign	Het
Itpr2	T	G	6: 146,277,646 (GRCm39)	N608H	probably damaging	Het
Klra2	T	A	6: 131,197,174 (GRCm39)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,850,905 (GRCm39)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 74,980,412 (GRCm39)	I126V	probably benign	Het
Mr1	G	A	1: 155,008,201 (GRCm39)	T258M	probably benign	Het
Mrps35	T	G	6: 146,961,726 (GRCm39)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,461,940 (GRCm39)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,574,241 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,076 (GRCm39)	I228F	possibly damaging	Het
Or13p5	A	G	4: 118,592,196 (GRCm39)	S157G	probably benign	Het
Or5c1	A	G	2: 37,221,951 (GRCm39)	Y64C	probably damaging	Het
Or5p59	A	T	7: 107,702,671 (GRCm39)	I52F	probably damaging	Het
Or8k3	A	G	2: 86,058,424 (GRCm39)	V297A	possibly damaging	Het
Paxx	T	C	2: 25,350,328 (GRCm39)	E93G	probably damaging	Het
Per2	C	A	1: 91,376,490 (GRCm39)	G128W	probably damaging	Het
Piezo1	A	G	8: 123,223,561 (GRCm39)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,654,353 (GRCm39)	S235P	probably damaging	Het
Pole	T	A	5: 110,483,788 (GRCm39)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,952,798 (GRCm39)	K512*	probably null	Het
Ralyl	A	T	3: 14,172,296 (GRCm39)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,531,347 (GRCm39)	M451K	probably benign	Het
Rhag	T	C	17: 41,142,487 (GRCm39)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,440,808 (GRCm39)	C94R	probably benign	Het
Rictor	T	A	15: 6,801,693 (GRCm39)	D460E	probably benign	Het
Rpn1	T	C	6: 88,077,926 (GRCm39)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,429,231 (GRCm39)	D427G	probably benign	Het
Scai	A	T	2: 38,970,129 (GRCm39)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 106,973,942 (GRCm39)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,148,204 (GRCm39)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,703,311 (GRCm39)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,226,761 (GRCm39)	V628A	probably benign	Het
Slc8a2	G	T	7: 15,875,060 (GRCm39)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Supt5	T	C	7: 28,029,449 (GRCm39)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,831,648 (GRCm39)	Y346*	probably null	Het
Tg	T	G	15: 66,700,417 (GRCm39)		probably null	Het
Top1	T	A	2: 160,545,616 (GRCm39)		probably null	Het
Trmt12	T	C	15: 58,745,076 (GRCm39)	L158P	probably damaging	Het
Unc80	G	T	1: 66,711,915 (GRCm39)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,325,051 (GRCm39)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm39)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,396,240 (GRCm39)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,610,836 (GRCm39)	V709A	possibly damaging	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
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
R4870:Tssk4	UTSW	14	55,889,272 (GRCm39)	missense	probably benign	0.38
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'- AAGTTGGAGAACCTGTTGCTGGAC -3'
(R):5'- CCTTGCCACCACTTTGAGTAGGAG -3'

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

Posted On

2014-05-09