Mutagenetix > Incidental Mutation

Incidental Mutation 'R1903:Tesk1'

209902

Institutional Source

Beutler Lab

Gene Symbol

Tesk1

Ensembl Gene

ENSMUSG00000028458

Gene Name

testis specific protein kinase 1

Synonyms

MMRRC Submission

039923-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R1903 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

43441939-43448064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43446998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 462 (M462T)

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 benign
Transcript: ENSMUST00000060864
AA Change: M462T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: M462T

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

noncoding transcript
Transcript: ENSMUST00000126350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137178

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156810

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.8%

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,258,352	S246R	possibly damaging	Het
Abca13	C	T	11: 9,466,411	R4058C	probably benign	Het
Acacb	A	T	5: 114,165,734	R73*	probably null	Het
Adam22	C	T	5: 8,134,525	C489Y	probably damaging	Het
Agap3	A	T	5: 24,493,013	K460I	probably damaging	Het
Ak4	T	C	4: 101,463,636	I214T	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arrb2	T	A	11: 70,437,982	H221Q	probably damaging	Het
Atl1	T	G	12: 69,959,275	F452V	probably damaging	Het
Atp8b5	A	G	4: 43,357,063	T604A	probably damaging	Het
BC005561	T	A	5: 104,518,330	S239R	probably benign	Het
Bglap3	T	C	3: 88,368,761	I95V	probably benign	Het
Ccdc88a	G	T	11: 29,461,788	M532I	probably benign	Het
Ccnl1	A	G	3: 65,946,911	S430P	possibly damaging	Het
Cdk5rap2	A	T	4: 70,403,554		probably null	Het
Cep126	A	T	9: 8,120,747	Y92N	possibly damaging	Het
Cfap44	A	C	16: 44,422,374	T714P	probably benign	Het
Cnga1	T	G	5: 72,616,725	D90A	possibly damaging	Het
Cnot1	T	C	8: 95,743,121	I1369V	possibly damaging	Het
Coq3	T	C	4: 21,910,466	S314P	probably damaging	Het
Crhr1	A	G	11: 104,169,849	R151G	probably damaging	Het
Crybg2	A	G	4: 134,078,856	I930V	probably damaging	Het
Ctcf	T	A	8: 105,675,988		probably null	Het
Dct	T	C	14: 118,034,278	N380S	probably benign	Het
Decr2	A	T	17: 26,087,413	L83Q	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dgkb	T	C	12: 38,166,777		probably null	Het
Dnah1	T	C	14: 31,319,759	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,535,478	D1709G	probably damaging	Het
Dnajc13	A	C	9: 104,228,937	L346R	probably damaging	Het
Dsc1	A	T	18: 20,095,988	V415D	probably damaging	Het
Duox2	T	A	2: 122,295,351	I296F	probably damaging	Het
Ece2	T	A	16: 20,645,172	L890H	probably damaging	Het
Ecsit	A	G	9: 22,076,519	S75P	possibly damaging	Het
Enpp3	A	G	10: 24,778,789	C664R	probably damaging	Het
Evpl	G	T	11: 116,227,028	D778E	probably damaging	Het
Eya3	T	A	4: 132,721,352		probably null	Het
Fam217b	A	T	2: 178,420,581	I113F	probably benign	Het
Galnt6	G	A	15: 100,716,118	P101S	possibly damaging	Het
Gm11487	T	A	4: 73,403,438	Y120F	probably damaging	Het
Gm281	C	T	14: 13,829,657	S695N	possibly damaging	Het
Gm379	G	A	X: 108,664,264	Q210*	probably null	Het
Grk4	A	T	5: 34,676,187		probably null	Het
Gtf3c4	A	G	2: 28,839,956	V91A	probably benign	Het
Hcfc2	G	T	10: 82,702,558	G143V	probably damaging	Het
Heatr4	A	C	12: 83,958,447	H710Q	probably damaging	Het
Htr3a	A	T	9: 48,906,381	D97E	probably damaging	Het
Htr4	T	G	18: 62,428,122	F151L	probably benign	Het
Il22ra1	A	T	4: 135,750,908	Q430L	probably damaging	Het
Invs	T	A	4: 48,402,824		probably null	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Irs1	T	C	1: 82,289,461	S345G	probably damaging	Het
Kdm4a	A	G	4: 118,160,399	V490A	probably benign	Het
Kif26a	C	T	12: 112,175,540	R743C	probably damaging	Het
Kif28	A	G	1: 179,702,523	V691A	possibly damaging	Het
Klhl5	T	A	5: 65,166,987	L696Q	probably benign	Het
Krtap5-1	T	C	7: 142,296,347		probably benign	Het
Lama2	A	C	10: 27,188,399	D1195E	probably damaging	Het
Lamb1	T	G	12: 31,329,210	L1722R	probably damaging	Het
Lrp11	T	A	10: 7,623,780	L245Q	probably damaging	Het
Ltbp2	T	C	12: 84,830,105	E422G	probably benign	Het
Man2b1	T	A	8: 85,086,822	D214E	probably damaging	Het
Mlxipl	A	T	5: 135,133,568	D628V	possibly damaging	Het
Myo18b	G	A	5: 112,692,758	R2390C	probably damaging	Het
Mypn	T	A	10: 63,123,397	R1048S	probably benign	Het
Napepld	A	G	5: 21,665,272	S383P	probably damaging	Het
Napsa	A	G	7: 44,581,736	T130A	probably damaging	Het
Nbr1	T	C	11: 101,575,152	I716T	probably damaging	Het
Nexn	A	T	3: 152,248,181	M212K	probably damaging	Het
Nlrp9b	T	A	7: 20,023,257	S140T	probably benign	Het
Nxpe2	T	C	9: 48,319,606	T488A	probably benign	Het
Olfr1051	C	T	2: 86,275,846	V214I	probably benign	Het
Olfr1420	A	T	19: 11,896,549	Y176F	probably benign	Het
Olfr1512	T	G	14: 52,372,717	Q112P	possibly damaging	Het
Olfr209	A	T	16: 59,362,163	D18E	probably benign	Het
Olfr834	A	T	9: 18,988,896	K303*	probably null	Het
Osbpl5	T	C	7: 143,703,181	D404G	possibly damaging	Het
Pan2	T	G	10: 128,308,368	L162R	probably damaging	Het
Parp1	G	T	1: 180,588,670	V545F	probably damaging	Het
Pcdh18	A	G	3: 49,755,447	V473A	probably benign	Het
Plb1	A	T	5: 32,291,238	N350I	probably damaging	Het
Polr1a	A	G	6: 71,967,914	K1318R	probably benign	Het
Ppp1r18	C	T	17: 35,873,846	P130S	probably damaging	Het
Prss48	C	T	3: 85,998,307	W86*	probably null	Het
Rab3c	A	T	13: 110,084,210	I137N	probably damaging	Het
Rab3gap2	G	C	1: 185,221,902	R57P	probably benign	Het
Rad54l2	A	C	9: 106,693,717		probably null	Het
Ralgapb	C	A	2: 158,495,563	N1147K	probably benign	Het
Rfx7	C	T	9: 72,616,811	R428C	probably damaging	Het
Robo1	A	G	16: 72,960,204	Q351R	probably null	Het
Samd4	T	C	14: 47,074,128	F81S	probably damaging	Het
Shprh	T	A	10: 11,183,797	Y1097*	probably null	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Slc24a4	T	A	12: 102,131,617	D79E	probably benign	Het
Slc7a13	A	T	4: 19,839,254	I286F	probably benign	Het
Smarca1	G	A	X: 47,849,963	Q723*	probably null	Het
Spata31d1b	T	C	13: 59,718,068	L1010P	probably damaging	Het
Sult2a1	T	C	7: 13,835,975	S111G	possibly damaging	Het
Tecpr2	C	T	12: 110,947,912	T1219M	probably damaging	Het
Tmem171	C	A	13: 98,686,416	G292*	probably null	Het
Tmtc2	G	T	10: 105,190,108	T833N	probably benign	Het
Tnc	G	T	4: 64,000,062	T1204K	probably benign	Het
Tnfaip3	T	C	10: 19,008,189	K148E	probably benign	Het
Tnrc18	G	A	5: 142,815,140	S21F	probably damaging	Het
Tns4	T	C	11: 99,075,575	T425A	probably damaging	Het
Tox	T	A	4: 6,688,948	Y472F	probably damaging	Het
Trak2	A	T	1: 58,918,855		probably null	Het
Trim33	T	A	3: 103,337,444	Y716N	probably damaging	Het
Trrap	T	G	5: 144,816,053	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,251,732	E137G	probably benign	Het
Ube2j2	A	G	4: 155,949,026	K19R	probably benign	Het
Ubxn2b	T	C	4: 6,208,889	I206T	possibly damaging	Het
Usp40	A	G	1: 87,982,056	F559L	probably benign	Het
Utp4	T	A	8: 106,912,350		probably null	Het
Vac14	A	G	8: 110,682,534	N524S	probably benign	Het
Vps13c	T	C	9: 67,894,052	S605P	probably damaging	Het
Vwa5b2	G	T	16: 20,604,832	S1165I	possibly damaging	Het
Zdhhc19	C	T	16: 32,498,413	R28*	probably null	Het
Zfp106	T	C	2: 120,526,848	I1189V	probably benign	Het
Zfp189	C	T	4: 49,529,511	Q205*	probably null	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
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
R9673:Tesk1	UTSW	4	43444574	missense	probably damaging	1.00
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'- ATCAAGCTGCTGGACACACC -3'
(R):5'- TGGGGAATTCACCACCACAG -3'

Sequencing Primer
(F):5'- GCTGGACACACCCTGCAAG -3'
(R):5'- CACCACAGCAGGGGGATTATTG -3'

Posted On

2014-06-30