Mutagenetix > Incidental Mutation

Incidental Mutation 'R9673:Tesk1'

728132

Institutional Source

Beutler Lab

Gene Symbol

Tesk1

Ensembl Gene

ENSMUSG00000028458

Gene Name

testis specific protein kinase 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R9673 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43441939-43448064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43444574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 126 (Y126C)

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: Y126C

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

SMART Domains

Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: Y126C

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 damaging
Transcript: ENSMUST00000138981
AA Change: Y126C

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

SMART Domains

Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458
AA Change: Y126C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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 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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,354,387	K318E	probably benign	Het
9530053A07Rik	A	G	7: 28,156,619	T1944A	probably benign	Het
AI314180	T	C	4: 58,822,060	N1169S	probably benign	Het
Ap5z1	T	C	5: 142,477,358	F766L	probably benign	Het
Atrnl1	A	G	19: 57,611,354	M1V	probably null	Het
Atxn1	T	C	13: 45,557,146	E770G	probably benign	Het
Brwd1	T	G	16: 96,011,896	I1471L	probably benign	Het
Bud23	T	C	5: 135,053,717	E66G	probably benign	Het
Cdh8	T	A	8: 99,030,735	I744L	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cep95	C	A	11: 106,812,496	H467Q	probably benign	Het
Chd1	A	G	17: 15,768,761	Y1592C	probably benign	Het
Chkb	C	G	15: 89,429,425	G59A	probably damaging	Het
Copa	A	G	1: 172,118,081	S915G	probably benign	Het
Creb3	G	T	4: 43,563,191	V97F	probably damaging	Het
Csmd2	T	A	4: 128,414,269	H1273Q		Het
Cxcr1	T	C	1: 74,191,915	N316S	probably benign	Het
Cyct	A	T	2: 76,354,179	I76N	probably damaging	Het
Dmxl2	G	T	9: 54,387,556	R2412S	probably damaging	Het
Dnah11	A	G	12: 118,018,778	M2552T	possibly damaging	Het
Dnph1	G	A	17: 46,498,975	E148K	possibly damaging	Het
Esp16	T	A	17: 39,537,840	Y8*	probably null	Het
Fam186a	T	C	15: 99,943,143	D1740G	possibly damaging	Het
Fam76a	C	A	4: 132,901,246	K300N	probably damaging	Het
Frrs1l	A	C	4: 56,990,191	D27E		Het
G6pc	T	C	11: 101,376,554	S277P	probably damaging	Het
Gabrg3	T	A	7: 57,323,674	I82F	probably damaging	Het
Gm3604	G	T	13: 62,370,155	Q130K	probably benign	Het
Gm8879	T	A	5: 11,129,023	N55K	probably benign	Het
Hhip	T	A	8: 79,992,479	D473V	probably damaging	Het
Ifi209	T	C	1: 173,642,766	S307P	probably damaging	Het
Ino80c	C	T	18: 24,121,799	M1I	probably null	Het
Jag2	G	T	12: 112,911,796	C872*	probably null	Het
Kcnma1	A	C	14: 23,508,055	H474Q	probably benign	Het
Krr1	G	A	10: 111,983,058		probably null	Het
Lats1	T	G	10: 7,712,623	D1001E	probably benign	Het
Lilr4b	T	C	10: 51,481,657	L149P	probably benign	Het
Lrrk2	T	A	15: 91,765,681	S1674T	probably damaging	Het
Magi2	A	G	5: 20,465,584	I309V	possibly damaging	Het
Mtmr4	A	G	11: 87,612,312	D1064G	probably damaging	Het
Mtmr4	T	C	11: 87,614,090	V1137A	probably damaging	Het
Neb	C	T	2: 52,243,841		probably null	Het
Nhsl1	T	A	10: 18,526,917	V1297E	possibly damaging	Het
Nlrp3	T	A	11: 59,549,322	V575D	probably damaging	Het
Nptx2	T	C	5: 144,555,349	I312T	possibly damaging	Het
Osm	A	G	11: 4,239,926	T237A	probably benign	Het
Pcdha12	T	C	18: 37,022,181	V651A	possibly damaging	Het
Pclo	A	G	5: 14,858,744		probably null	Het
Pdlim3	C	T	8: 45,915,158	S183L	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pgm1	T	A	5: 64,116,328	M552K	probably damaging	Het
Pkhd1l1	T	C	15: 44,523,505	L1258S	probably benign	Het
Proser3	T	G	7: 30,549,105	T55P	probably damaging	Het
Ranbp2	C	A	10: 58,465,141	P611Q	probably damaging	Het
Rangap1	T	C	15: 81,706,436	D485G	probably benign	Het
Rp1	G	A	1: 4,267,569	T421I	unknown	Het
Ryr3	G	A	2: 112,656,538	L3862F	possibly damaging	Het
Sbf1	C	T	15: 89,295,472	G1337R	possibly damaging	Het
Setd2	A	G	9: 110,549,070	E651G	probably damaging	Het
Shmt1	A	G	11: 60,801,943	W105R	probably damaging	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Slc22a29	T	C	19: 8,162,740	I434V	probably benign	Het
Sord	C	T	2: 122,260,231	T221I	probably benign	Het
Tbcd	T	C	11: 121,573,821	Y561H	probably damaging	Het
Tcaf1	G	A	6: 42,686,874	S24F	probably benign	Het
Tenm4	A	T	7: 96,867,989	D1429V	probably damaging	Het
Tmem176a	G	A	6: 48,844,018	V141I	probably benign	Het
Tmem204	A	T	17: 25,080,269	V92D	probably damaging	Het
Ttn	T	A	2: 76,742,261	D26096V	probably damaging	Het
Vmn1r70	T	A	7: 10,634,437	L284Q	probably damaging	Het
Vmn2r77	T	C	7: 86,800,963	V139A	possibly damaging	Het
Wdpcp	A	G	11: 21,721,285	R509G	possibly damaging	Het
Wee1	C	T	7: 110,126,003	T284I	probably damaging	Het
Wfs1	A	G	5: 36,967,769	S593P	probably damaging	Het
Zbtb11	A	G	16: 56,006,973	H934R	probably damaging	Het
Zfp277	A	T	12: 40,320,612	V446E	probably benign	Het
Zfp874a	C	A	13: 67,443,037	R176L	probably benign	Het
Znrf2	A	T	6: 54,863,993	N184I	probably damaging	Het
Zp2	T	A	7: 120,134,015	T568S	probably damaging	Het

Other mutations in Tesk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01755:Tesk1	APN	4	43445820	critical splice donor site	probably null
IGL02969:Tesk1	APN	4	43447027	missense	possibly damaging	0.49
IGL02969:Tesk1	APN	4	43447026	nonsense	probably null
FR4449:Tesk1	UTSW	4	43447002	utr 3 prime	probably benign
FR4737:Tesk1	UTSW	4	43447004	frame shift	probably null
R0009:Tesk1	UTSW	4	43445368	missense	probably damaging	0.99
R0396:Tesk1	UTSW	4	43446000	missense	probably damaging	0.99
R0765:Tesk1	UTSW	4	43446706	missense	possibly damaging	0.81
R1850:Tesk1	UTSW	4	43443576	missense	probably damaging	1.00
R1868:Tesk1	UTSW	4	43447201	missense	probably damaging	0.99
R1903:Tesk1	UTSW	4	43446998	missense	probably benign	0.00
R3961:Tesk1	UTSW	4	43445133	splice site	probably null
R3973:Tesk1	UTSW	4	43445786	missense	possibly damaging	0.50
R3975:Tesk1	UTSW	4	43445786	missense	possibly damaging	0.50
R3976:Tesk1	UTSW	4	43445786	missense	possibly damaging	0.50
R4074:Tesk1	UTSW	4	43443606	missense	possibly damaging	0.88
R4908:Tesk1	UTSW	4	43445555	nonsense	probably null
R5002:Tesk1	UTSW	4	43444573	missense	probably damaging	1.00
R5237:Tesk1	UTSW	4	43447100	missense	probably damaging	0.98
R6755:Tesk1	UTSW	4	43445991	missense	probably benign	0.03
R6886:Tesk1	UTSW	4	43443592	missense	possibly damaging	0.72
R6991:Tesk1	UTSW	4	43447006	missense	probably benign
R6992:Tesk1	UTSW	4	43447006	missense	probably benign
R6993:Tesk1	UTSW	4	43447006	missense	probably benign
R7401:Tesk1	UTSW	4	43445743	missense	probably damaging	0.99
R7542:Tesk1	UTSW	4	43445941	missense	probably benign	0.08
R7825:Tesk1	UTSW	4	43447143	missense	probably damaging	0.98
R8795:Tesk1	UTSW	4	43446070	critical splice donor site	probably null
R9200:Tesk1	UTSW	4	43447307	missense	probably damaging	0.99
X0064:Tesk1	UTSW	4	43443534	missense	probably damaging	1.00
Z1177:Tesk1	UTSW	4	43446920	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTACATAGTCCTACTGTGAGAGAC -3'
(R):5'- TACATGTCAATATCCACAGGCC -3'

Sequencing Primer
(F):5'- CAGGGTAGCCTAGTATATAAATGGG -3'
(R):5'- TGTCAATATCCACAGGCCAATTAC -3'

Posted On

2022-10-06