Mutagenetix > Incidental Mutation

Incidental Mutation 'R5209:Tesk2'

403030

Institutional Source

Beutler Lab

Gene Symbol

Tesk2

Ensembl Gene

ENSMUSG00000033985

Gene Name

testis-specific kinase 2

Synonyms

MMRRC Submission

042784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R5209 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116578107-116661450 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 116581895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102067 (fasta)

Gene Model

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

AlphaFold

Q8VCT9

Predicted Effect

probably benign
Transcript: ENSMUST00000045542

SMART Domains

Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985

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: 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: ENSMUST00000124628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183634

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (57/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,832,130 (GRCm39)	V500A	probably benign	Het
Abcg4	A	G	9: 44,186,672 (GRCm39)	Y491H	probably damaging	Het
Adgb	C	A	10: 10,274,681 (GRCm39)	V759L	possibly damaging	Het
Adprhl1	T	A	8: 13,292,563 (GRCm39)	K243*	probably null	Het
Arhgap24	T	A	5: 103,040,015 (GRCm39)	D317E	probably benign	Het
Arhgef5	A	T	6: 43,250,634 (GRCm39)	I462F	probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Btbd18	A	G	2: 84,498,443 (GRCm39)	T694A	possibly damaging	Het
Ces1d	A	T	8: 93,901,816 (GRCm39)		probably benign	Het
Chmp2a	C	A	7: 12,766,601 (GRCm39)	V106F	probably damaging	Het
Cinp	T	C	12: 110,840,494 (GRCm39)	E219G	probably benign	Het
Col5a3	C	T	9: 20,689,939 (GRCm39)		probably benign	Het
Dnhd1	T	G	7: 105,345,667 (GRCm39)	S2271A	probably benign	Het
Epg5	T	A	18: 77,994,497 (GRCm39)	L376H	probably damaging	Het
Fam81a	T	C	9: 70,032,442 (GRCm39)	T17A	probably benign	Het
Fgd2	T	A	17: 29,587,350 (GRCm39)		probably null	Het
Gjc3	C	T	5: 137,955,533 (GRCm39)	V251I	probably benign	Het
Gnaz	T	G	10: 74,827,823 (GRCm39)	F192V	probably benign	Het
Hmgcr	T	C	13: 96,803,020 (GRCm39)		probably benign	Het
Mamdc4	G	T	2: 25,456,935 (GRCm39)	A614E	probably damaging	Het
Mapk8ip2	A	T	15: 89,343,490 (GRCm39)	Q713L	probably damaging	Het
Mettl1	T	C	10: 126,881,203 (GRCm39)	V238A	possibly damaging	Het
Ms4a4c	G	A	19: 11,393,802 (GRCm39)	G74E	probably damaging	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,230,736 (GRCm39)	Y113*	probably null	Het
Mylk	T	C	16: 34,742,995 (GRCm39)	L1169P	possibly damaging	Het
Npr3	A	G	15: 11,848,689 (GRCm39)	V426A	possibly damaging	Het
Or12d15	T	C	17: 37,693,721 (GRCm39)	S88P	probably damaging	Het
Or5au1	T	C	14: 52,273,410 (GRCm39)	T53A	probably benign	Het
Or6c202	A	C	10: 128,996,801 (GRCm39)	D17E	possibly damaging	Het
Or8b1c	T	A	9: 38,384,817 (GRCm39)	M258K	possibly damaging	Het
Pcdhb17	T	C	18: 37,620,514 (GRCm39)	F768S	probably damaging	Het
Piezo2	T	C	18: 63,166,000 (GRCm39)	N2077S	probably damaging	Het
Pkd1l2	G	A	8: 117,783,181 (GRCm39)	P713L	probably benign	Het
Primpol	T	C	8: 47,043,295 (GRCm39)	T333A	probably benign	Het
Pth2r	A	T	1: 65,427,856 (GRCm39)	T510S	probably benign	Het
Ptprr	A	T	10: 115,998,514 (GRCm39)	E208V	probably damaging	Het
Rag1	T	C	2: 101,474,560 (GRCm39)	Y194C	probably benign	Het
Reep5	A	T	18: 34,490,293 (GRCm39)		probably null	Het
Rexo5	T	A	7: 119,433,522 (GRCm39)	Y493*	probably null	Het
Rgs9	T	C	11: 109,130,420 (GRCm39)		probably null	Het
Rps6ka1	A	T	4: 133,593,129 (GRCm39)	V218D	probably damaging	Het
Satb1	A	T	17: 52,116,235 (GRCm39)	M16K	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn14	A	G	11: 83,170,459 (GRCm39)	F395S	possibly damaging	Het
Spata31h1	T	C	10: 82,119,652 (GRCm39)	T4453A	possibly damaging	Het
Sptbn5	T	A	2: 119,902,483 (GRCm39)	I82F	probably benign	Het
Stam	T	A	2: 14,151,158 (GRCm39)	I505K	probably benign	Het
Trappc12	T	C	12: 28,787,793 (GRCm39)	K430R	probably benign	Het
Trmo	T	C	4: 46,387,740 (GRCm39)	N34D	probably damaging	Het
Ubr2	C	A	17: 47,279,350 (GRCm39)	C686F	probably damaging	Het
Vdac1	C	T	11: 52,267,279 (GRCm39)	T60I	probably damaging	Het
Zfp652	G	C	11: 95,654,491 (GRCm39)	R478P	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
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

Posted On

2016-07-22