Mutagenetix > Incidental Mutation

Incidental Mutation 'R5186:Tesk2'

397868

Institutional Source

Beutler Lab

Gene Symbol

Tesk2

Ensembl Gene

ENSMUSG00000033985

Gene Name

testis-specific kinase 2

Synonyms

MMRRC Submission

042765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5186 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116720948-116805956 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 116741896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 67 (G67A)

Ref Sequence

ENSEMBL: ENSMUSP00000102067 (fasta)

Gene Model

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

AlphaFold

Q8VCT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000045542
AA Change: G67A

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

SMART Domains

Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
AA Change: G67A

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 damaging
Transcript: ENSMUST00000106456
AA Change: G67A

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

SMART Domains

Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
AA Change: G67A

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 damaging
Transcript: ENSMUST00000106459
AA Change: G67A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985
AA Change: G67A

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: ENSMUST00000124628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134192

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,743,739 (GRCm38)	L89H	probably damaging	Het
Abca8a	T	C	11: 110,091,599 (GRCm38)	I6V	probably null	Het
Aox1	A	G	1: 58,068,370 (GRCm38)	D601G	probably damaging	Het
Asic1	GCACC	GCACCACC	15: 99,698,803 (GRCm38)		probably benign	Het
Cacna1g	T	G	11: 94,442,848 (GRCm38)	N931T	probably damaging	Het
Ccdc14	T	C	16: 34,721,585 (GRCm38)	F511L	probably damaging	Het
Cd177	T	A	7: 24,744,923 (GRCm38)	E710V	probably benign	Het
Cep112	T	C	11: 108,752,560 (GRCm38)	C49R	probably benign	Het
Clip2	G	A	5: 134,522,791 (GRCm38)	T159M	possibly damaging	Het
Dnah2	T	C	11: 69,435,884 (GRCm38)	N3575S	probably damaging	Het
Dnah6	T	A	6: 73,067,427 (GRCm38)	I3234F	probably damaging	Het
Eci3	G	T	13: 34,946,978 (GRCm38)	A302E	possibly damaging	Het
Fam204a	T	C	19: 60,199,989 (GRCm38)	K214E	probably damaging	Het
Fam78a	T	C	2: 32,082,654 (GRCm38)	T85A	possibly damaging	Het
Flnb	T	C	14: 7,909,748 (GRCm38)	Y1401H	probably damaging	Het
Foxl2	A	T	9: 98,956,055 (GRCm38)	D132V	probably damaging	Het
Frs2	C	A	10: 117,078,842 (GRCm38)	W57C	probably damaging	Het
Gm26558	G	T	2: 70,661,417 (GRCm38)		probably benign	Het
Gpr139	A	G	7: 119,144,840 (GRCm38)	V174A	probably benign	Het
Grik5	T	C	7: 25,015,819 (GRCm38)	T676A	probably damaging	Het
H60c	T	C	10: 3,259,273 (GRCm38)		probably null	Het
Hspa1l	A	G	17: 34,978,469 (GRCm38)	K495E	probably damaging	Het
Irgm1	C	T	11: 48,866,217 (GRCm38)	V256I	probably benign	Het
Kat7	T	A	11: 95,286,416 (GRCm38)	T293S	probably benign	Het
Lipg	C	T	18: 74,960,938 (GRCm38)	V13I	probably benign	Het
Lrrn1	A	T	6: 107,569,224 (GRCm38)	Y661F	probably damaging	Het
Mllt3	A	G	4: 87,840,995 (GRCm38)	V272A	probably benign	Het
Mx1	G	A	16: 97,455,494 (GRCm38)	R162C	probably benign	Het
Myo18b	T	A	5: 112,871,470 (GRCm38)	D647V	probably damaging	Het
Naf1	G	A	8: 66,879,646 (GRCm38)	V329I	probably benign	Het
Olfr1286	A	T	2: 111,420,774 (GRCm38)	M59K	probably damaging	Het
Olfr654	A	T	7: 104,588,211 (GRCm38)	I153F	probably damaging	Het
Olfr936	A	T	9: 39,046,969 (GRCm38)	C194*	probably null	Het
P2rx5	G	A	11: 73,171,790 (GRCm38)	V442M	possibly damaging	Het
Pcdhb9	A	G	18: 37,401,232 (GRCm38)	E93G	probably damaging	Het
Pcdhga4	A	T	18: 37,687,426 (GRCm38)	N676I	probably benign	Het
Pgm5	A	G	19: 24,820,128 (GRCm38)	M230T	probably damaging	Het
Pik3c2g	T	C	6: 139,622,018 (GRCm38)	V44A	probably damaging	Het
Pp2d1	T	C	17: 53,508,140 (GRCm38)	M519V	probably benign	Het
Ppp1r10	A	G	17: 35,928,511 (GRCm38)	E404G	probably damaging	Het
Prpf8	A	T	11: 75,489,783 (GRCm38)	E104V	possibly damaging	Het
Ptpa	T	C	2: 30,438,355 (GRCm38)		probably null	Het
Pygl	A	C	12: 70,201,344 (GRCm38)	N248K	probably damaging	Het
Rbm8a	A	G	3: 96,630,932 (GRCm38)	D102G	probably damaging	Het
Sema3d	A	G	5: 12,584,908 (GRCm38)	D647G	probably benign	Het
Serpinb11	A	T	1: 107,379,754 (GRCm38)	D305V	probably damaging	Het
Slc12a8	T	C	16: 33,617,208 (GRCm38)	I337T	probably damaging	Het
Slc29a2	G	A	19: 5,028,967 (GRCm38)	R286Q	probably benign	Het
Slc2a3	T	A	6: 122,735,583 (GRCm38)	D234V	probably damaging	Het
Slco4a1	T	C	2: 180,473,108 (GRCm38)	V608A	probably damaging	Het
Srrm2	C	T	17: 23,816,587 (GRCm38)	T831I	probably benign	Het
St18	T	A	1: 6,802,317 (GRCm38)		probably null	Het
Tlr1	A	T	5: 64,925,221 (GRCm38)	L671H	probably damaging	Het
Tmem63b	A	T	17: 45,661,477 (GRCm38)	Y735N	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,079 (GRCm38)	C263Y	probably damaging	Het
Trio	A	T	15: 27,897,991 (GRCm38)	V345E	probably damaging	Het
Ubr5	A	G	15: 37,997,916 (GRCm38)	S1674P	probably damaging	Het
Uchl3	T	A	14: 101,695,917 (GRCm38)	C209S	probably damaging	Het
Uhmk1	T	C	1: 170,211,167 (GRCm38)	N206S	probably damaging	Het
Uhrf1	C	T	17: 56,318,340 (GRCm38)	R588W	probably damaging	Het
Usp28	T	C	9: 49,010,250 (GRCm38)	V256A	probably damaging	Het
Utrn	C	A	10: 12,728,777 (GRCm38)	L552F	probably damaging	Het
Vmn1r55	A	T	7: 5,146,986 (GRCm38)	M146K	probably damaging	Het
Vmn1r57	A	C	7: 5,221,108 (GRCm38)	I211L	probably benign	Het
Zar1	C	T	5: 72,577,399 (GRCm38)	C316Y	probably damaging	Het
Zc3h11a	A	T	1: 133,621,674 (GRCm38)	S750T	probably damaging	Het
Zcchc6	A	G	13: 59,816,656 (GRCm38)		probably null	Het
Zfp366	G	A	13: 99,246,168 (GRCm38)	C613Y	probably benign	Het
Zfp37	A	T	4: 62,191,256 (GRCm38)	C524S	probably damaging	Het
Zfp516	T	C	18: 82,957,093 (GRCm38)	V472A	probably benign	Het
Zhx1	A	T	15: 58,052,423 (GRCm38)	M809K	probably damaging	Het
Zic1	T	C	9: 91,364,371 (GRCm38)	Y216C	probably damaging	Het

Other mutations in Tesk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Tesk2	APN	4	116,771,801 (GRCm38)	missense	possibly damaging	0.68
IGL02051:Tesk2	APN	4	116,751,184 (GRCm38)	missense	probably damaging	1.00
IGL02223:Tesk2	APN	4	116,741,825 (GRCm38)	nonsense	probably null
IGL02747:Tesk2	APN	4	116,802,879 (GRCm38)	missense	probably benign	0.31
IGL02942:Tesk2	APN	4	116,771,820 (GRCm38)	missense	probably damaging	0.99
BB006:Tesk2	UTSW	4	116,802,255 (GRCm38)	missense	probably benign	0.08
BB016:Tesk2	UTSW	4	116,802,255 (GRCm38)	missense	probably benign	0.08
R1804:Tesk2	UTSW	4	116,800,621 (GRCm38)	unclassified	probably benign
R1936:Tesk2	UTSW	4	116,741,824 (GRCm38)	missense	probably benign	0.23
R1986:Tesk2	UTSW	4	116,751,193 (GRCm38)	missense	probably damaging	1.00
R2414:Tesk2	UTSW	4	116,801,757 (GRCm38)	missense	possibly damaging	0.96
R4632:Tesk2	UTSW	4	116,741,712 (GRCm38)	missense	probably benign	0.01
R4896:Tesk2	UTSW	4	116,802,993 (GRCm38)	missense	probably benign
R5209:Tesk2	UTSW	4	116,724,698 (GRCm38)	start gained	probably benign
R5278:Tesk2	UTSW	4	116,805,936 (GRCm38)	intron	probably benign
R5769:Tesk2	UTSW	4	116,802,315 (GRCm38)	splice site	probably null
R6199:Tesk2	UTSW	4	116,792,170 (GRCm38)	missense	probably damaging	0.98
R6464:Tesk2	UTSW	4	116,802,849 (GRCm38)	missense	probably damaging	1.00
R6567:Tesk2	UTSW	4	116,792,164 (GRCm38)	missense	probably damaging	1.00
R6867:Tesk2	UTSW	4	116,801,798 (GRCm38)	missense	probably damaging	0.99
R7028:Tesk2	UTSW	4	116,802,687 (GRCm38)	nonsense	probably null
R7929:Tesk2	UTSW	4	116,802,255 (GRCm38)	missense	probably benign	0.08
R8830:Tesk2	UTSW	4	116,802,287 (GRCm38)	missense	probably benign	0.00
R8957:Tesk2	UTSW	4	116,802,713 (GRCm38)	missense	probably benign	0.10
R9043:Tesk2	UTSW	4	116,802,951 (GRCm38)	missense	probably benign	0.20
R9074:Tesk2	UTSW	4	116,801,736 (GRCm38)	missense	probably damaging	1.00
R9464:Tesk2	UTSW	4	116,801,246 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCAATTGCAGGGTTTCCC -3'
(R):5'- TCTGGCAGTTCACAGCTTAC -3'

Sequencing Primer
(F):5'- GGTTTCCCCCACGTGTG -3'
(R):5'- TGTAATCCCAACTCTCGGGAAGTG -3'

Posted On

2016-07-06