Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02223:Tesk2'

285223

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tesk2

Ensembl Gene

ENSMUSG00000033985

Gene Name

testis-specific kinase 2

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02223

Quality Score

Status

Chromosome

Chromosomal Location

116578107-116661450 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116599022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 43 (Y43*)

Ref Sequence

ENSEMBL: ENSMUSP00000102067 (fasta)

Gene Model

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

AlphaFold

Q8VCT9

Predicted Effect

probably null
Transcript: ENSMUST00000045542
AA Change: Y43*

SMART Domains

Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
AA Change: Y43*

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 null
Transcript: ENSMUST00000106456
AA Change: Y43*

SMART Domains

Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
AA Change: Y43*

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 null
Transcript: ENSMUST00000106459
AA Change: Y43*

SMART Domains

Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985
AA Change: Y43*

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,506,909 (GRCm39)	W1148*	probably null	Het
Adam17	A	G	12: 21,411,706 (GRCm39)	S62P	possibly damaging	Het
Akap8	T	C	17: 32,535,621 (GRCm39)	Y131C	probably damaging	Het
Ccdc169	A	G	3: 55,049,721 (GRCm39)	N48S	probably benign	Het
Ccdc80	A	G	16: 44,915,966 (GRCm39)	T241A	probably damaging	Het
Cct7	G	T	6: 85,439,023 (GRCm39)	M112I	probably benign	Het
Cftr	G	A	6: 18,221,481 (GRCm39)	A198T	probably damaging	Het
Crk	T	C	11: 75,594,205 (GRCm39)	V264A	probably damaging	Het
Dhx34	T	C	7: 15,932,584 (GRCm39)	T1071A	probably benign	Het
Dlst	A	G	12: 85,177,692 (GRCm39)	I362V	probably benign	Het
Fat2	T	C	11: 55,163,955 (GRCm39)	E3100G	probably benign	Het
Fbxo11	A	G	17: 88,316,714 (GRCm39)	V323A	probably benign	Het
Foxe3	C	A	4: 114,782,906 (GRCm39)	R102L	probably damaging	Het
Gale	T	C	4: 135,693,817 (GRCm39)	F162S	probably damaging	Het
Gipc2	G	A	3: 151,833,687 (GRCm39)	P198L	probably damaging	Het
Gm5258	A	G	1: 86,251,118 (GRCm39)		noncoding transcript	Het
Gpatch11	A	G	17: 79,152,608 (GRCm39)	T259A	probably benign	Het
H2-M10.3	T	C	17: 36,678,972 (GRCm39)	N32S	possibly damaging	Het
Hdlbp	T	C	1: 93,340,171 (GRCm39)	I999V	probably damaging	Het
Ibtk	A	G	9: 85,592,419 (GRCm39)		probably benign	Het
Ift46	A	G	9: 44,697,609 (GRCm39)	S165G	probably damaging	Het
Igsf1	A	G	X: 48,873,897 (GRCm39)	S389P	probably damaging	Het
Lrrd1	A	C	5: 3,900,211 (GRCm39)	N172T	probably benign	Het
Mamdc2	G	A	19: 23,336,507 (GRCm39)		probably benign	Het
Matn2	A	G	15: 34,423,864 (GRCm39)	N574S	probably benign	Het
Med1	T	C	11: 98,048,702 (GRCm39)	D683G	probably damaging	Het
Mon1a	A	G	9: 107,778,484 (GRCm39)	E236G	probably damaging	Het
Moxd2	T	A	6: 40,861,967 (GRCm39)	I202F	probably damaging	Het
Nif3l1	T	A	1: 58,487,202 (GRCm39)	Y129*	probably null	Het
Nlrp5	T	C	7: 23,129,447 (GRCm39)		probably benign	Het
Odad3	G	A	9: 21,904,908 (GRCm39)	R293C	probably damaging	Het
Or5k14	C	T	16: 58,693,057 (GRCm39)	G152E	probably damaging	Het
Pcx	T	C	19: 4,652,006 (GRCm39)	Y84H	probably damaging	Het
Pom121l2	T	C	13: 22,166,265 (GRCm39)	S179P	probably benign	Het
Rexo4	C	A	2: 26,845,511 (GRCm39)	C369F	probably damaging	Het
Rigi	T	C	4: 40,209,993 (GRCm39)	N692D	possibly damaging	Het
Scmh1	C	A	4: 120,372,416 (GRCm39)	H406Q	probably benign	Het
Slc12a8	A	G	16: 33,445,060 (GRCm39)	D372G	probably damaging	Het
Snip1	T	C	4: 124,966,545 (GRCm39)	F325S	possibly damaging	Het
Spr-ps1	C	T	6: 85,132,181 (GRCm39)		noncoding transcript	Het
Stk36	A	G	1: 74,662,496 (GRCm39)	Y538C	possibly damaging	Het
Svil	A	G	18: 5,105,879 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,155,079 (GRCm39)	T6787A	probably benign	Het
Tbcel	T	G	9: 42,363,014 (GRCm39)	M10L	probably benign	Het
Tjp1	C	T	7: 64,972,349 (GRCm39)	R605Q	probably damaging	Het
Tmem65	A	G	15: 58,662,000 (GRCm39)		probably benign	Het
Tnnt2	A	G	1: 135,769,753 (GRCm39)		probably benign	Het
Trmt44	T	C	5: 35,731,989 (GRCm39)	E134G	probably benign	Het
Trpv2	T	C	11: 62,472,081 (GRCm39)	L91P	probably benign	Het
Ttn	G	A	2: 76,807,463 (GRCm39)	T90I	probably damaging	Het
Yy1	A	G	12: 108,759,466 (GRCm39)	E43G	unknown	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
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
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

Posted On

2015-04-16