Mutagenetix > Incidental Mutation

Incidental Mutation 'R6199:Tesk2'

503090

Institutional Source

Beutler Lab

Gene Symbol

Tesk2

Ensembl Gene

ENSMUSG00000033985

Gene Name

testis-specific kinase 2

Synonyms

MMRRC Submission

044339-MU

Accession Numbers

Essential gene?

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

Stock #

R6199 (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 116649367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 159 (D159G)

Ref Sequence

ENSEMBL: ENSMUSP00000102064 (fasta)

Gene Model

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

AlphaFold

Q8VCT9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045542
AA Change: D159G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041009
Gene: ENSMUSG00000033985
AA Change: D159G

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 damaging
Transcript: ENSMUST00000106456
AA Change: D159G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102064
Gene: ENSMUSG00000033985
AA Change: D159G

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

possibly damaging
Transcript: ENSMUST00000106459
AA Change: D159G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102067
Gene: ENSMUSG00000033985
AA Change: D159G

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: ENSMUST00000142529

Meta Mutation Damage Score

0.2522

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,407,887 (GRCm39)	D206V	possibly damaging	Het
Ank2	T	A	3: 126,797,655 (GRCm39)	D685V	probably damaging	Het
Baz2b	A	G	2: 59,809,019 (GRCm39)	S77P	probably benign	Het
Ccdc194	T	C	8: 71,978,109 (GRCm39)	N83D	probably benign	Het
Ceacam5	A	T	7: 17,448,810 (GRCm39)	T59S	probably benign	Het
Cemip2	G	A	19: 21,822,186 (GRCm39)	G1194S	probably benign	Het
Ces1e	A	C	8: 93,944,163 (GRCm39)	F218L	probably damaging	Het
Cilk1	T	C	9: 78,071,921 (GRCm39)	V531A	probably benign	Het
Cps1	TGTCCATTGGTC	TGTC	1: 67,201,774 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eftud2	A	T	11: 102,730,883 (GRCm39)	V843E	probably damaging	Het
Fuca2	G	T	10: 13,381,783 (GRCm39)	W232L	probably damaging	Het
Gdf7	T	C	12: 8,348,832 (GRCm39)	D155G	unknown	Het
Ggcx	G	T	6: 72,407,122 (GRCm39)	V753F	possibly damaging	Het
Ghrhr	A	T	6: 55,356,173 (GRCm39)	T89S	probably benign	Het
Gpr151	T	C	18: 42,711,619 (GRCm39)	K353R	probably benign	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsdmc2	A	G	15: 63,696,962 (GRCm39)	I403T	probably benign	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Igsf5	C	T	16: 96,222,939 (GRCm39)	S61L	possibly damaging	Het
Insc	A	T	7: 114,390,401 (GRCm39)		probably null	Het
Izumo4	G	A	10: 80,538,707 (GRCm39)	G53D	probably damaging	Het
Ksr1	G	A	11: 78,911,267 (GRCm39)	P693S	possibly damaging	Het
Lgals4	G	A	7: 28,535,317 (GRCm39)	R27H	probably damaging	Het
Lpcat2b	A	G	5: 107,581,171 (GRCm39)	R167G	probably benign	Het
Man1a	C	T	10: 53,890,552 (GRCm39)	V288I	possibly damaging	Het
Map2	T	G	1: 66,464,637 (GRCm39)	S1676A	probably damaging	Het
Mbl1	G	T	14: 40,875,572 (GRCm39)	V9F	unknown	Het
Mrgprb8	T	A	7: 48,039,051 (GRCm39)	C241S	probably benign	Het
Mrpl2	T	C	17: 46,960,012 (GRCm39)	L227P	probably damaging	Het
Mthfd1	T	A	12: 76,335,685 (GRCm39)	V253E	probably damaging	Het
Mthfd1	A	G	12: 76,350,454 (GRCm39)	H464R	probably damaging	Het
Mug2	T	A	6: 122,024,398 (GRCm39)	M490K	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Notch1	A	G	2: 26,359,911 (GRCm39)	V1268A	probably damaging	Het
Or6b2b	A	T	1: 92,419,264 (GRCm39)	I71N	possibly damaging	Het
Or8b12c	C	A	9: 37,716,177 (GRCm39)		probably null	Het
Pgm1	A	T	4: 99,836,151 (GRCm39)	I412F	probably damaging	Het
Plaur	A	T	7: 24,164,628 (GRCm39)	Q44L	possibly damaging	Het
Ppara	T	C	15: 85,671,434 (GRCm39)	Y112H	probably damaging	Het
Ppm1h	G	A	10: 122,756,644 (GRCm39)	V430M	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prph	A	G	15: 98,954,713 (GRCm39)	T35A	probably benign	Het
Prrc2c	C	T	1: 162,510,085 (GRCm39)	G780S	probably damaging	Het
Ptchd3	T	A	11: 121,721,908 (GRCm39)	N260K	probably benign	Het
Ptprz1	A	G	6: 23,002,470 (GRCm39)	D1520G	probably benign	Het
Samd9l	T	A	6: 3,376,686 (GRCm39)	I192L	probably benign	Het
Slc39a10	T	C	1: 46,874,993 (GRCm39)	D103G	probably damaging	Het
Smndc1	G	A	19: 53,372,063 (GRCm39)	T117M	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn2r108	A	T	17: 20,682,644 (GRCm39)	N853K	probably benign	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	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
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'- TGCTTTTAGACAGGGTCTCAC -3'
(R):5'- CAGAGATTCCCCATAGTTCTAGATTTC -3'

Sequencing Primer
(F):5'- GGGTCTCACTTTTAAGAGCACTGAC -3'
(R):5'- GTGCTCCTCAACAGTTATG -3'

Posted On

2018-02-27