Mutagenetix > Incidental Mutation

Incidental Mutation 'R4896:Tesk2'

377619

Institutional Source

Beutler Lab

Gene Symbol

Tesk2

Ensembl Gene

ENSMUSG00000033985

Gene Name

testis-specific kinase 2

Synonyms

MMRRC Submission

042500-MU

Accession Numbers

Essential gene?

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

Stock #

R4896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116578107-116661450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116660190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 436 (H436R)

Ref Sequence

ENSEMBL: ENSMUSP00000102064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030451] [ENSMUST00000045542] [ENSMUST00000102699] [ENSMUST00000106455] [ENSMUST00000106456] [ENSMUST00000106459] [ENSMUST00000145468] [ENSMUST00000130359]

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 benign
Transcript: ENSMUST00000045542
AA Change: H465R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
AA Change: H465R

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: ENSMUST00000102699

SMART Domains

Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687

Domain	Start	End	E-Value	Type
ENDO3c	107	259	1.46e-52	SMART
FES	260	280	2.16e-5	SMART
Pfam:NUDIX_4	353	463	2.3e-23	PFAM

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
AA Change: H436R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
AA Change: H436R

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

SMART Domains

Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985

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

noncoding transcript
Transcript: ENSMUST00000124857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134612

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130359

Meta Mutation Damage Score

0.0584

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

99% (101/102)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,957,267 (GRCm39)	V132A	possibly damaging	Het
Acp3	A	T	9: 104,184,174 (GRCm39)	V292E	probably damaging	Het
Adamts10	T	C	17: 33,747,870 (GRCm39)	V102A	possibly damaging	Het
Add2	A	G	6: 86,073,728 (GRCm39)	T206A	probably benign	Het
Alg12	A	T	15: 88,700,391 (GRCm39)	L15Q	probably damaging	Het
Ankrd27	T	A	7: 35,307,800 (GRCm39)	D346E	probably damaging	Het
Armc2	A	T	10: 41,799,790 (GRCm39)	N689K	probably damaging	Het
Best3	T	A	10: 116,860,460 (GRCm39)	D573E	probably benign	Het
Bltp1	T	G	3: 37,020,086 (GRCm39)	N2108K	probably damaging	Het
Ccdc80	A	T	16: 44,916,261 (GRCm39)	Q339L	probably benign	Het
Cdh9	T	C	15: 16,778,242 (GRCm39)	V19A	probably benign	Het
Cimap1a	G	A	7: 140,428,398 (GRCm39)		probably benign	Het
Cnksr1	A	T	4: 133,956,986 (GRCm39)		probably null	Het
Col7a1	T	A	9: 108,786,345 (GRCm39)	V525E	unknown	Het
Cplane1	T	C	15: 8,251,421 (GRCm39)	S1898P	probably benign	Het
Crebrf	T	C	17: 26,961,394 (GRCm39)	S172P	possibly damaging	Het
Csmd1	T	C	8: 16,059,439 (GRCm39)	I2099V	probably benign	Het
Dcaf4	T	A	12: 83,586,233 (GRCm39)	M400K	possibly damaging	Het
Dnah11	A	T	12: 117,958,935 (GRCm39)	F2983I	probably damaging	Het
Dock6	A	G	9: 21,735,733 (GRCm39)	V1005A	possibly damaging	Het
Dyrk2	C	A	10: 118,704,153 (GRCm39)	G34C	probably damaging	Het
Eif4a1	A	T	11: 69,559,423 (GRCm39)		probably benign	Het
Eno4	G	T	19: 58,952,975 (GRCm39)	D330Y	probably damaging	Het
Faf1	G	A	4: 109,699,496 (GRCm39)	C347Y	probably benign	Het
Fam169a	A	G	13: 97,234,100 (GRCm39)	Y124C	probably damaging	Het
Fam227a	G	T	15: 79,521,255 (GRCm39)	F269L	probably benign	Het
Fancm	C	A	12: 65,122,605 (GRCm39)	D42E	probably damaging	Het
Fat1	T	A	8: 45,404,317 (GRCm39)	I356N	possibly damaging	Het
Fer1l6	A	T	15: 58,509,869 (GRCm39)	T1444S	probably damaging	Het
Galr1	A	G	18: 82,412,065 (GRCm39)	L267P	probably damaging	Het
Gbx1	T	C	5: 24,709,837 (GRCm39)	H336R	probably damaging	Het
Gimap8	A	T	6: 48,636,281 (GRCm39)	Q682L	possibly damaging	Het
Gm2396	T	G	9: 88,813,281 (GRCm39)		noncoding transcript	Het
Gm5798	T	C	14: 41,070,614 (GRCm39)	L8S	probably damaging	Het
Hmgcll1	C	T	9: 75,963,460 (GRCm39)	S39F	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Il3ra	A	T	14: 14,355,381 (GRCm38)	E289D	probably benign	Het
Isoc1	T	A	18: 58,806,350 (GRCm39)	L220Q	probably damaging	Het
Itga2	T	A	13: 114,990,302 (GRCm39)	K918*	probably null	Het
Kat6a	C	T	8: 23,428,329 (GRCm39)	T1228I	probably benign	Het
Klhl30	T	A	1: 91,287,046 (GRCm39)		probably null	Het
Krtap6-2	A	T	16: 89,216,806 (GRCm39)	C54S	unknown	Het
Lmf2	G	A	15: 89,236,003 (GRCm39)	P634S	probably benign	Het
Map3k4	A	G	17: 12,490,906 (GRCm39)	V175A	possibly damaging	Het
Mcm3	A	C	1: 20,890,480 (GRCm39)		probably benign	Het
Mon1b	T	C	8: 114,365,859 (GRCm39)	S396P	probably damaging	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Ncor2	A	G	5: 125,126,404 (GRCm39)		probably null	Het
Nlrc5	T	G	8: 95,247,844 (GRCm39)		probably benign	Het
Nlrp14	GT	GTT	7: 106,796,386 (GRCm39)		probably null	Het
Nwd2	T	G	5: 63,962,151 (GRCm39)	S578R	probably damaging	Het
Or12k7	A	G	2: 36,958,422 (GRCm39)	Y35C	probably damaging	Het
Or4f4b	G	A	2: 111,314,005 (GRCm39)	V105I	possibly damaging	Het
Otoa	C	A	7: 120,701,902 (GRCm39)	P194T	probably damaging	Het
Pde1b	A	C	15: 103,429,801 (GRCm39)	D98A	probably damaging	Het
Pi4ka	A	T	16: 17,195,033 (GRCm39)	C122S	probably damaging	Het
Pole2	C	T	12: 69,269,924 (GRCm39)	V67M	probably damaging	Het
Prickle2	A	T	6: 92,393,736 (GRCm39)	D312E	probably benign	Het
Prkd1	T	C	12: 50,436,745 (GRCm39)	D453G	probably damaging	Het
Prrc1	T	A	18: 57,507,626 (GRCm39)	V260E	probably damaging	Het
Reg3g	A	T	6: 78,444,793 (GRCm39)	Y62N	probably benign	Het
Reln	C	T	5: 22,160,236 (GRCm39)	G2111E	probably damaging	Het
Rsph6a	A	T	7: 18,791,665 (GRCm39)	E278V	possibly damaging	Het
Scpep1	T	A	11: 88,832,122 (GRCm39)	I203F	probably damaging	Het
Sec24d	T	C	3: 123,148,596 (GRCm39)	C747R	probably damaging	Het
Sec31a	A	T	5: 100,516,192 (GRCm39)	N967K	probably damaging	Het
Sell	T	C	1: 163,890,631 (GRCm39)	W5R	probably benign	Het
Siglec1	C	T	2: 130,911,789 (GRCm39)	V1697M	probably benign	Het
Sinhcaf	A	G	6: 148,834,498 (GRCm39)		probably null	Het
Slc22a26	T	A	19: 7,768,419 (GRCm39)	I213L	probably benign	Het
Slc2a13	G	A	15: 91,296,415 (GRCm39)	P300S	probably benign	Het
Slco1a4	A	G	6: 141,761,231 (GRCm39)	Y461H	possibly damaging	Het
Slco3a1	G	C	7: 73,970,304 (GRCm39)	C434W	probably null	Het
Sp3	A	T	2: 72,768,633 (GRCm39)	V666D	probably benign	Het
Spidr	A	T	16: 15,936,806 (GRCm39)	W100R	possibly damaging	Het
Stk33	T	A	7: 108,926,802 (GRCm39)	M286L	probably damaging	Het
Sult1c2	T	A	17: 54,139,163 (GRCm39)	I183F	probably benign	Het
Svep1	G	T	4: 58,087,751 (GRCm39)	T1776K	probably benign	Het
Tex2	T	C	11: 106,459,230 (GRCm39)	T67A	probably damaging	Het
Timm10	T	C	2: 84,660,192 (GRCm39)	S44P	possibly damaging	Het
Tmed11	C	A	5: 108,943,048 (GRCm39)		probably null	Het
Trim12c	G	A	7: 103,990,155 (GRCm39)	R441C	probably damaging	Het
Trmt2a	A	G	16: 18,070,793 (GRCm39)	K509E	probably damaging	Het
Upk3a	A	G	15: 84,903,624 (GRCm39)	T108A	probably benign	Het
Usp29	A	G	7: 6,965,158 (GRCm39)	M334V	probably benign	Het
Vash1	A	G	12: 86,726,916 (GRCm39)	D52G	probably benign	Het
Vmn2r14	T	G	5: 109,368,246 (GRCm39)	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,247,848 (GRCm39)	F772I	probably damaging	Het
Vmn2r75	G	T	7: 85,820,787 (GRCm39)	S49Y	probably benign	Het
Xdh	T	C	17: 74,217,238 (GRCm39)	T677A	probably damaging	Het
Zan	A	G	5: 137,384,718 (GRCm39)	L5102P	unknown	Het
Zfp160	T	A	17: 21,240,343 (GRCm39)	S9T	probably benign	Het
Zfp273	A	T	13: 67,973,673 (GRCm39)	H267L	probably damaging	Het
Zfp97	T	A	17: 17,365,038 (GRCm39)	I179K	probably benign	Het
Zfp975	T	C	7: 42,311,716 (GRCm39)	Y299C	probably 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
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
R9074:Tesk2	UTSW	4	116,658,933 (GRCm39)	missense	probably damaging	1.00
R9464:Tesk2	UTSW	4	116,658,443 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGATGGTGCTACACATACCCC -3'
(R):5'- AAAACCGTTCTCTTCTTGGGG -3'

Sequencing Primer
(F):5'- CTTTCAGTGCACGCCAAG -3'
(R):5'- GGTTAGAGCAGTCCATGGC -3'

Posted On

2016-03-17