Mutagenetix > Incidental Mutation

Incidental Mutation 'R9200:Tesk1'

698152

Institutional Source

Beutler Lab

Gene Symbol

Tesk1

Ensembl Gene

ENSMUSG00000028458

Gene Name

testis specific protein kinase 1

Synonyms

MMRRC Submission

068957-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

R9200 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43442277-43448075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43447307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 565 (E565G)

Ref Sequence

ENSEMBL: ENSMUSP00000050087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030179] [ENSMUST00000060864] [ENSMUST00000098104] [ENSMUST00000098105] [ENSMUST00000107925] [ENSMUST00000107926] [ENSMUST00000138981]

AlphaFold

O70146

Predicted Effect

probably benign
Transcript: ENSMUST00000030179

SMART Domains

Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
coiled coil region	137	223	N/A	INTRINSIC
CLECT	232	348	2.28e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000060864
AA Change: E565G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: E565G

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
Pfam:Pkinase	52	306	5.4e-46	PFAM
Pfam:Pkinase_Tyr	52	306	3.1e-47	PFAM
low complexity region	316	330	N/A	INTRINSIC
low complexity region	345	370	N/A	INTRINSIC
low complexity region	403	424	N/A	INTRINSIC
low complexity region	472	490	N/A	INTRINSIC
low complexity region	513	525	N/A	INTRINSIC
low complexity region	549	565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098104

SMART Domains

Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
coiled coil region	83	169	N/A	INTRINSIC
CLECT	178	287	2.48e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098105

SMART Domains

Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
transmembrane domain	72	94	N/A	INTRINSIC
coiled coil region	113	199	N/A	INTRINSIC
CLECT	208	324	2.28e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107925

SMART Domains

Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
coiled coil region	137	223	N/A	INTRINSIC
CLECT	232	334	2.65e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107926

SMART Domains

Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
coiled coil region	137	223	N/A	INTRINSIC
CLECT	232	341	2.48e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138981

SMART Domains

Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
Pfam:Pkinase	52	174	7.6e-29	PFAM
Pfam:Pkinase_Tyr	52	175	1.5e-26	PFAM

Meta Mutation Damage Score

0.1002

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (71/72)

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 and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	C	A	7: 119,179,839 (GRCm39)	Y352*	probably null	Het
Adh7	C	T	3: 137,927,567 (GRCm39)	R38C	probably benign	Het
Ankrd2	A	T	19: 42,028,871 (GRCm39)	T145S		Het
Anpep	T	C	7: 79,490,870 (GRCm39)	N241D	probably benign	Het
Apaf1	G	A	10: 90,845,102 (GRCm39)	L990F	probably benign	Het
Arsi	A	G	18: 61,049,836 (GRCm39)	T240A	possibly damaging	Het
Ascc3	A	G	10: 50,521,787 (GRCm39)	E434G	possibly damaging	Het
Atp2c2	A	T	8: 120,474,999 (GRCm39)	K535*	probably null	Het
B3galt4	A	G	17: 34,170,384 (GRCm39)		probably benign	Het
Brwd1	C	G	16: 95,839,154 (GRCm39)	C839S	probably benign	Het
Cars1	C	T	7: 143,129,654 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,935,229 (GRCm39)	V14D	unknown	Het
Ccdc150	A	C	1: 54,299,197 (GRCm39)	T58P	probably damaging	Het
Cdhr17	T	C	5: 17,006,659 (GRCm39)		probably null	Het
Cdon	A	G	9: 35,414,617 (GRCm39)	D1164G	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cic	A	C	7: 24,971,940 (GRCm39)	D557A	probably damaging	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Dach1	G	T	14: 98,065,743 (GRCm39)	R695S	probably damaging	Het
Ddc	T	C	11: 11,765,388 (GRCm39)	N428S	possibly damaging	Het
Dnah6	G	A	6: 73,004,497 (GRCm39)	T3822I	probably benign	Het
Dnmt1	T	A	9: 20,819,896 (GRCm39)	M1535L	probably benign	Het
Edc4	T	C	8: 106,617,051 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,581,229 (GRCm39)	I499T	possibly damaging	Het
Etl4	A	G	2: 20,786,702 (GRCm39)	D766G	probably damaging	Het
Fes	T	C	7: 80,032,140 (GRCm39)	Q414R	probably benign	Het
Fhod1	A	G	8: 106,058,072 (GRCm39)	V844A	probably benign	Het
Fshr	A	T	17: 89,354,103 (GRCm39)	V85E	probably benign	Het
Gc	T	C	5: 89,593,236 (GRCm39)	N61S	probably benign	Het
Hapstr1	T	C	16: 8,673,898 (GRCm39)	L275P	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Itga1	A	T	13: 115,104,997 (GRCm39)	I1059N	possibly damaging	Het
Itpr3	T	A	17: 27,326,636 (GRCm39)	V1426E	probably damaging	Het
Jag1	T	A	2: 136,929,044 (GRCm39)	Y804F	probably benign	Het
Lama3	A	G	18: 12,605,297 (GRCm39)	T1084A	probably benign	Het
Mdn1	A	G	4: 32,760,791 (GRCm39)	D4952G	probably benign	Het
Mmrn1	A	G	6: 60,953,860 (GRCm39)	T714A	probably damaging	Het
Nab1	T	A	1: 52,529,525 (GRCm39)	H124L	possibly damaging	Het
Nacc2	A	G	2: 25,980,118 (GRCm39)	F106S	probably damaging	Het
Nbeal1	T	C	1: 60,320,425 (GRCm39)	I2006T	probably damaging	Het
Nkpd1	C	A	7: 19,257,683 (GRCm39)	H487Q	probably benign	Het
Nop2	G	A	6: 125,117,843 (GRCm39)		probably null	Het
Or10ag54	T	A	2: 87,100,055 (GRCm39)	M310K	probably benign	Het
Or5b124	A	G	19: 13,610,595 (GRCm39)	N40S	probably damaging	Het
Otud6b	A	T	4: 14,811,712 (GRCm39)	Y310*	probably null	Het
Phyh	A	T	2: 4,932,247 (GRCm39)	Y111F	probably benign	Het
Pon3	A	G	6: 5,240,863 (GRCm39)	L106P	probably benign	Het
Ppp6r3	T	C	19: 3,519,748 (GRCm39)	D615G	probably damaging	Het
Pramel23	G	A	4: 143,423,856 (GRCm39)	P311L	possibly damaging	Het
Prdm10	G	A	9: 31,268,438 (GRCm39)	V796I	probably damaging	Het
Prkdc	G	T	16: 15,523,153 (GRCm39)	V1192F	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rab39	T	C	9: 53,597,665 (GRCm39)	N200S	probably benign	Het
Rcc2	A	G	4: 140,445,664 (GRCm39)	I441V	probably benign	Het
Rxra	G	A	2: 27,627,496 (GRCm39)	V72I	possibly damaging	Het
Ryr1	T	G	7: 28,794,524 (GRCm39)	Q1252P	probably benign	Het
Sectm1a	T	C	11: 120,960,473 (GRCm39)	Y114C	probably damaging	Het
Smim1	T	C	4: 154,108,276 (GRCm39)		probably null	Het
Smpd2	C	T	10: 41,363,561 (GRCm39)	D301N	probably benign	Het
Smyd3	T	C	1: 179,232,963 (GRCm39)	D139G	probably benign	Het
Sox13	C	T	1: 133,313,743 (GRCm39)	C399Y	probably damaging	Het
Tars3	A	G	7: 65,302,013 (GRCm39)	E179G	probably benign	Het
Tas2r138	A	G	6: 40,589,494 (GRCm39)	F251L	probably damaging	Het
Tm2d1	A	T	4: 98,246,200 (GRCm39)	F201I	possibly damaging	Het
Tom1l2	C	A	11: 60,120,942 (GRCm39)	D501Y	probably benign	Het
Trim39	G	T	17: 36,579,667 (GRCm39)	T96K	probably benign	Het
Ubash3a	A	G	17: 31,436,971 (GRCm39)	H196R	probably damaging	Het
Unc13b	A	G	4: 43,257,352 (GRCm39)	E1206G	possibly damaging	Het
Usp17lc	A	T	7: 103,068,105 (GRCm39)	T467S	probably benign	Het
Vmn1r128	T	C	7: 21,083,316 (GRCm39)	S7P	possibly damaging	Het
Vmn1r185	T	A	7: 26,311,073 (GRCm39)	H144L	possibly damaging	Het
Wfdc6b	A	T	2: 164,455,708 (GRCm39)	R12S	possibly damaging	Het
Zmynd8	A	T	2: 165,682,005 (GRCm39)	D175E	probably benign	Het

Other mutations in Tesk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01755:Tesk1	APN	4	43,445,820 (GRCm39)	critical splice donor site	probably null
IGL02969:Tesk1	APN	4	43,447,026 (GRCm39)	nonsense	probably null
IGL02969:Tesk1	APN	4	43,447,027 (GRCm39)	missense	possibly damaging	0.49
FR4449:Tesk1	UTSW	4	43,447,002 (GRCm39)	utr 3 prime	probably benign
FR4737:Tesk1	UTSW	4	43,447,004 (GRCm39)	frame shift	probably null
R0009:Tesk1	UTSW	4	43,445,368 (GRCm39)	missense	probably damaging	0.99
R0396:Tesk1	UTSW	4	43,446,000 (GRCm39)	missense	probably damaging	0.99
R0765:Tesk1	UTSW	4	43,446,706 (GRCm39)	missense	possibly damaging	0.81
R1850:Tesk1	UTSW	4	43,443,576 (GRCm39)	missense	probably damaging	1.00
R1868:Tesk1	UTSW	4	43,447,201 (GRCm39)	missense	probably damaging	0.99
R1903:Tesk1	UTSW	4	43,446,998 (GRCm39)	missense	probably benign	0.00
R3961:Tesk1	UTSW	4	43,445,133 (GRCm39)	splice site	probably null
R3973:Tesk1	UTSW	4	43,445,786 (GRCm39)	missense	possibly damaging	0.50
R3975:Tesk1	UTSW	4	43,445,786 (GRCm39)	missense	possibly damaging	0.50
R3976:Tesk1	UTSW	4	43,445,786 (GRCm39)	missense	possibly damaging	0.50
R4074:Tesk1	UTSW	4	43,443,606 (GRCm39)	missense	possibly damaging	0.88
R4908:Tesk1	UTSW	4	43,445,555 (GRCm39)	nonsense	probably null
R5002:Tesk1	UTSW	4	43,444,573 (GRCm39)	missense	probably damaging	1.00
R5237:Tesk1	UTSW	4	43,447,100 (GRCm39)	missense	probably damaging	0.98
R6755:Tesk1	UTSW	4	43,445,991 (GRCm39)	missense	probably benign	0.03
R6886:Tesk1	UTSW	4	43,443,592 (GRCm39)	missense	possibly damaging	0.72
R6991:Tesk1	UTSW	4	43,447,006 (GRCm39)	missense	probably benign
R6992:Tesk1	UTSW	4	43,447,006 (GRCm39)	missense	probably benign
R6993:Tesk1	UTSW	4	43,447,006 (GRCm39)	missense	probably benign
R7401:Tesk1	UTSW	4	43,445,743 (GRCm39)	missense	probably damaging	0.99
R7542:Tesk1	UTSW	4	43,445,941 (GRCm39)	missense	probably benign	0.08
R7825:Tesk1	UTSW	4	43,447,143 (GRCm39)	missense	probably damaging	0.98
R8795:Tesk1	UTSW	4	43,446,070 (GRCm39)	critical splice donor site	probably null
R9673:Tesk1	UTSW	4	43,444,574 (GRCm39)	missense	probably damaging	1.00
X0064:Tesk1	UTSW	4	43,443,534 (GRCm39)	missense	probably damaging	1.00
Z1177:Tesk1	UTSW	4	43,446,920 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGGCCACTGACAACTTCATC -3'
(R):5'- ACAGGCCTCACTGCTAAGAG -3'

Sequencing Primer
(F):5'- GCAGCCCTGGTCTCCTAGATC -3'
(R):5'- TAAGAGCGTGCCCCAGG -3'

Posted On

2022-02-07