Mutagenetix > Incidental Mutation

Incidental Mutation 'R9074:Tesk2'

689654

Institutional Source

Beutler Lab

Gene Symbol

Tesk2

Ensembl Gene

ENSMUSG00000033985

Gene Name

testis-specific kinase 2

Synonyms

MMRRC Submission

068895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R9074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116578107-116661450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116658933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 270 (Y270C)

Ref Sequence

ENSEMBL: ENSMUSP00000041009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030451] [ENSMUST00000045542] [ENSMUST00000106455] [ENSMUST00000106456] [ENSMUST00000106459] [ENSMUST00000145468]

AlphaFold

Q8VCT9

Predicted Effect

probably benign
Transcript: ENSMUST00000030451

SMART Domains

Protein: ENSMUSP00000030451
Gene: ENSMUSG00000028688

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:CAF1	39	171	3.1e-46	PFAM
Pfam:CAF1	164	452	9.9e-40	PFAM
Pfam:zf-CCCH	297	322	2.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000045542
AA Change: Y270C

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

SMART Domains

Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
AA Change: Y270C

Domain	Start	End	E-Value	Type
low complexity region	24	30	N/A	INTRINSIC
Pfam:Pkinase	59	309	1.6e-48	PFAM
Pfam:Pkinase_Tyr	59	309	1.2e-50	PFAM
low complexity region	539	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106455

SMART Domains

Protein: ENSMUSP00000102063
Gene: ENSMUSG00000028688

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:CAF1	37	301	2.1e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106456

SMART Domains

Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985

Domain	Start	End	E-Value	Type
low complexity region	24	30	N/A	INTRINSIC
Pfam:Pkinase_Tyr	59	291	4.5e-46	PFAM
Pfam:Pkinase	60	332	3.6e-46	PFAM
low complexity region	510	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106459
AA Change: T269A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985
AA Change: T269A

Domain	Start	End	E-Value	Type
low complexity region	24	30	N/A	INTRINSIC
Pfam:Pkinase_Tyr	59	238	6.1e-37	PFAM
Pfam:Pkinase	60	239	4.3e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145468

SMART Domains

Protein: ENSMUSP00000117019
Gene: ENSMUSG00000028688

Domain	Start	End	E-Value	Type
Pfam:CAF1	1	184	2.2e-58	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,972,257 (GRCm39)		silent	Het
Ackr2	T	A	9: 121,737,729 (GRCm39)	C35S	probably damaging	Het
Adcy8	T	A	15: 64,573,940 (GRCm39)	K1054N	probably damaging	Het
Adgrf1	A	T	17: 43,601,879 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,127,959 (GRCm39)	I3765K	probably benign	Het
Brwd1	A	T	16: 95,824,610 (GRCm39)	F1219I		Het
Btc	A	T	5: 91,508,603 (GRCm39)		probably null	Het
Cd163	C	T	6: 124,285,947 (GRCm39)	R166*	probably null	Het
Cfap52	G	A	11: 67,822,656 (GRCm39)	S405L	probably benign	Het
Clcn2	A	G	16: 20,531,414 (GRCm39)	L210P	possibly damaging	Het
Creb3l3	T	A	10: 80,924,452 (GRCm39)		probably null	Het
Csn1s2a	A	T	5: 87,934,458 (GRCm39)	I144F	probably benign	Het
Dedd	G	T	1: 171,167,888 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,491,124 (GRCm39)	R537C	probably damaging	Het
Epas1	A	T	17: 87,135,267 (GRCm39)	R633S	probably benign	Het
Fmn2	C	A	1: 174,436,198 (GRCm39)	T723N	unknown	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Ggcx	T	G	6: 72,402,924 (GRCm39)	F294C	probably damaging	Het
Ghr	G	A	15: 3,370,470 (GRCm39)	P132S	possibly damaging	Het
Gm15446	A	T	5: 110,091,299 (GRCm39)	H517L	probably damaging	Het
Gm5862	T	C	5: 26,226,624 (GRCm39)	T93A	probably damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Greb1l	A	G	18: 10,532,797 (GRCm39)	Y897C	probably damaging	Het
Greb1l	T	C	18: 10,558,795 (GRCm39)	C1817R	probably damaging	Het
Ier5	C	A	1: 154,974,275 (GRCm39)	W301L	probably damaging	Het
Irf2bp2	A	G	8: 127,318,456 (GRCm39)	L370P	probably benign	Het
Itga9	T	A	9: 118,636,344 (GRCm39)	N677K	probably damaging	Het
Itgb7	G	T	15: 102,132,797 (GRCm39)	R172S		Het
Kdm6b	A	T	11: 69,292,977 (GRCm39)	C1266*	probably null	Het
Kmt2c	A	T	5: 25,489,343 (GRCm39)	V4532E	probably damaging	Het
Kprp	A	C	3: 92,732,226 (GRCm39)	F275V	probably damaging	Het
Lrrc4	C	A	6: 28,831,595 (GRCm39)	V7L	probably damaging	Het
Map3k21	G	A	8: 126,664,050 (GRCm39)	R537H	probably damaging	Het
Mchr1	T	G	15: 81,119,980 (GRCm39)	D2E	probably benign	Het
Mixl1	T	C	1: 180,522,245 (GRCm39)	D212G	probably damaging	Het
Mup2	T	C	4: 60,139,717 (GRCm39)	T24A	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip5	T	C	13: 100,358,264 (GRCm39)	K991E	possibly damaging	Het
Ndufb11b	T	A	15: 81,865,011 (GRCm39)	M84K	probably damaging	Het
Nfe2l1	G	A	11: 96,710,573 (GRCm39)	A552V	possibly damaging	Het
Or2p2	C	T	13: 21,256,784 (GRCm39)	R229H	possibly damaging	Het
Or51r1	T	G	7: 102,228,433 (GRCm39)	S244A	probably damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pds5a	A	G	5: 65,804,479 (GRCm39)	S527P	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,043,351 (GRCm39)	V233E	probably damaging	Het
Pias1	T	C	9: 62,888,164 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,556,246 (GRCm39)	W72R	unknown	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Proc	A	G	18: 32,268,950 (GRCm39)	S12P	possibly damaging	Het
Rida	T	A	15: 34,488,823 (GRCm39)	Q23L	probably damaging	Het
Slc22a8	A	G	19: 8,587,025 (GRCm39)	E406G	possibly damaging	Het
Slc2a7	A	G	4: 150,242,625 (GRCm39)	T238A	probably benign	Het
Spata31h1	T	A	10: 82,123,894 (GRCm39)	S3039C	possibly damaging	Het
Spp1	A	G	5: 104,588,167 (GRCm39)	I190V	probably benign	Het
Srgap1	T	C	10: 121,628,257 (GRCm39)	D882G	probably damaging	Het
Ssrp1	T	A	2: 84,875,811 (GRCm39)	W557R	probably damaging	Het
Strn	C	G	17: 79,043,790 (GRCm39)	A43P	probably benign	Het
Taf6	A	C	5: 138,180,465 (GRCm39)	Y300D	probably damaging	Het
Tnnt3	T	A	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Ubl7	A	G	9: 57,826,637 (GRCm39)	H117R	possibly damaging	Het
Vcan	T	A	13: 89,839,146 (GRCm39)	T2133S	possibly damaging	Het
Vrk2	T	A	11: 26,543,917 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,125,902 (GRCm39)	Q1011P	possibly damaging	Het
Wls	T	A	3: 159,615,403 (GRCm39)	I306N	possibly damaging	Het
Zfp654	A	G	16: 64,611,496 (GRCm39)	S283P	probably damaging	Het
Zfp956	C	T	6: 47,939,462 (GRCm39)	T170I	possibly damaging	Het

Other mutations in Tesk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Tesk2	APN	4	116,628,998 (GRCm39)	missense	possibly damaging	0.68
IGL02051:Tesk2	APN	4	116,608,381 (GRCm39)	missense	probably damaging	1.00
IGL02223:Tesk2	APN	4	116,599,022 (GRCm39)	nonsense	probably null
IGL02747:Tesk2	APN	4	116,660,076 (GRCm39)	missense	probably benign	0.31
IGL02942:Tesk2	APN	4	116,629,017 (GRCm39)	missense	probably damaging	0.99
BB006:Tesk2	UTSW	4	116,659,452 (GRCm39)	missense	probably benign	0.08
BB016:Tesk2	UTSW	4	116,659,452 (GRCm39)	missense	probably benign	0.08
R1804:Tesk2	UTSW	4	116,657,818 (GRCm39)	unclassified	probably benign
R1936:Tesk2	UTSW	4	116,599,021 (GRCm39)	missense	probably benign	0.23
R1986:Tesk2	UTSW	4	116,608,390 (GRCm39)	missense	probably damaging	1.00
R2414:Tesk2	UTSW	4	116,658,954 (GRCm39)	missense	possibly damaging	0.96
R4632:Tesk2	UTSW	4	116,598,909 (GRCm39)	missense	probably benign	0.01
R4896:Tesk2	UTSW	4	116,660,190 (GRCm39)	missense	probably benign
R5186:Tesk2	UTSW	4	116,599,093 (GRCm39)	missense	probably damaging	1.00
R5209:Tesk2	UTSW	4	116,581,895 (GRCm39)	start gained	probably benign
R5278:Tesk2	UTSW	4	116,663,133 (GRCm39)	intron	probably benign
R5769:Tesk2	UTSW	4	116,659,512 (GRCm39)	splice site	probably null
R6199:Tesk2	UTSW	4	116,649,367 (GRCm39)	missense	probably damaging	0.98
R6464:Tesk2	UTSW	4	116,660,046 (GRCm39)	missense	probably damaging	1.00
R6567:Tesk2	UTSW	4	116,649,361 (GRCm39)	missense	probably damaging	1.00
R6867:Tesk2	UTSW	4	116,658,995 (GRCm39)	missense	probably damaging	0.99
R7028:Tesk2	UTSW	4	116,659,884 (GRCm39)	nonsense	probably null
R7929:Tesk2	UTSW	4	116,659,452 (GRCm39)	missense	probably benign	0.08
R8830:Tesk2	UTSW	4	116,659,484 (GRCm39)	missense	probably benign	0.00
R8957:Tesk2	UTSW	4	116,659,910 (GRCm39)	missense	probably benign	0.10
R9043:Tesk2	UTSW	4	116,660,148 (GRCm39)	missense	probably benign	0.20
R9464:Tesk2	UTSW	4	116,658,443 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTTGGCTTGACGATGGAAC -3'
(R):5'- AGCCTGTACAGATCAGAGTAGG -3'

Sequencing Primer
(F):5'- TGACGATGGAACTGTTTTACCC -3'
(R):5'- GAAATGATGGCATGCCCCTTATG -3'

Posted On

2021-11-19