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: 0.288) question?

Stock #

R1903 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

43442277-43448075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43446998 bp (GRCm39)

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: ENSMUST00000140284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134850

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

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: 57,165,635 (GRCm39)	S246R	possibly damaging	Het
Abca13	C	T	11: 9,416,411 (GRCm39)	R4058C	probably benign	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adam22	C	T	5: 8,184,525 (GRCm39)	C489Y	probably damaging	Het
Agap3	A	T	5: 24,698,011 (GRCm39)	K460I	probably damaging	Het
Ak4	T	C	4: 101,320,833 (GRCm39)	I214T	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arrb2	T	A	11: 70,328,808 (GRCm39)	H221Q	probably damaging	Het
Atl1	T	G	12: 70,006,049 (GRCm39)	F452V	probably damaging	Het
Atp8b5	A	G	4: 43,357,063 (GRCm39)	T604A	probably damaging	Het
Bglap3	T	C	3: 88,276,068 (GRCm39)	I95V	probably benign	Het
Ccdc88a	G	T	11: 29,411,788 (GRCm39)	M532I	probably benign	Het
Ccnl1	A	G	3: 65,854,332 (GRCm39)	S430P	possibly damaging	Het
Cdhr18	C	T	14: 13,829,657 (GRCm38)	S695N	possibly damaging	Het
Cdk5rap2	A	T	4: 70,321,791 (GRCm39)		probably null	Het
Cep126	A	T	9: 8,120,748 (GRCm39)	Y92N	possibly damaging	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnga1	T	G	5: 72,774,068 (GRCm39)	D90A	possibly damaging	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Coq3	T	C	4: 21,910,466 (GRCm39)	S314P	probably damaging	Het
Crhr1	A	G	11: 104,060,675 (GRCm39)	R151G	probably damaging	Het
Crybg2	A	G	4: 133,806,167 (GRCm39)	I930V	probably damaging	Het
Ctcf	T	A	8: 106,402,620 (GRCm39)		probably null	Het
Dct	T	C	14: 118,271,690 (GRCm39)	N380S	probably benign	Het
Decr2	A	T	17: 26,306,387 (GRCm39)	L83Q	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dgkb	T	C	12: 38,216,776 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,041,716 (GRCm39)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,574,637 (GRCm39)	D1709G	probably damaging	Het
Dnajc13	A	C	9: 104,106,136 (GRCm39)	L346R	probably damaging	Het
Dsc1	A	T	18: 20,229,045 (GRCm39)	V415D	probably damaging	Het
Duox2	T	A	2: 122,125,832 (GRCm39)	I296F	probably damaging	Het
Ece2	T	A	16: 20,463,922 (GRCm39)	L890H	probably damaging	Het
Ecsit	A	G	9: 21,987,815 (GRCm39)	S75P	possibly damaging	Het
Enpp3	A	G	10: 24,654,687 (GRCm39)	C664R	probably damaging	Het
Evpl	G	T	11: 116,117,854 (GRCm39)	D778E	probably damaging	Het
Eya3	T	A	4: 132,448,663 (GRCm39)		probably null	Het
Fam217b	A	T	2: 178,062,374 (GRCm39)	I113F	probably benign	Het
Galnt6	G	A	15: 100,613,999 (GRCm39)	P101S	possibly damaging	Het
Gm379	G	A	X: 107,707,870 (GRCm39)	Q210*	probably null	Het
Grk4	A	T	5: 34,833,531 (GRCm39)		probably null	Het
Gtf3c4	A	G	2: 28,729,968 (GRCm39)	V91A	probably benign	Het
Hcfc2	G	T	10: 82,538,392 (GRCm39)	G143V	probably damaging	Het
Heatr4	A	C	12: 84,005,221 (GRCm39)	H710Q	probably damaging	Het
Htr3a	A	T	9: 48,817,681 (GRCm39)	D97E	probably damaging	Het
Htr4	T	G	18: 62,561,193 (GRCm39)	F151L	probably benign	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Invs	T	A	4: 48,402,824 (GRCm39)		probably null	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irs1	T	C	1: 82,267,182 (GRCm39)	S345G	probably damaging	Het
Kdm4a	A	G	4: 118,017,596 (GRCm39)	V490A	probably benign	Het
Kif26a	C	T	12: 112,141,974 (GRCm39)	R743C	probably damaging	Het
Kif28	A	G	1: 179,530,088 (GRCm39)	V691A	possibly damaging	Het
Klhl5	T	A	5: 65,324,330 (GRCm39)	L696Q	probably benign	Het
Krtap5-1	T	C	7: 141,850,084 (GRCm39)		probably benign	Het
Lama2	A	C	10: 27,064,395 (GRCm39)	D1195E	probably damaging	Het
Lamb1	T	G	12: 31,379,209 (GRCm39)	L1722R	probably damaging	Het
Lrp11	T	A	10: 7,499,544 (GRCm39)	L245Q	probably damaging	Het
Ltbp2	T	C	12: 84,876,879 (GRCm39)	E422G	probably benign	Het
Man2b1	T	A	8: 85,813,451 (GRCm39)	D214E	probably damaging	Het
Mlxipl	A	T	5: 135,162,422 (GRCm39)	D628V	possibly damaging	Het
Msantd5f6	T	A	4: 73,321,675 (GRCm39)	Y120F	probably damaging	Het
Myo18b	G	A	5: 112,840,624 (GRCm39)	R2390C	probably damaging	Het
Mypn	T	A	10: 62,959,176 (GRCm39)	R1048S	probably benign	Het
Napepld	A	G	5: 21,870,270 (GRCm39)	S383P	probably damaging	Het
Napsa	A	G	7: 44,231,160 (GRCm39)	T130A	probably damaging	Het
Nbr1	T	C	11: 101,465,978 (GRCm39)	I716T	probably damaging	Het
Nexn	A	T	3: 151,953,818 (GRCm39)	M212K	probably damaging	Het
Nlrp9b	T	A	7: 19,757,182 (GRCm39)	S140T	probably benign	Het
Nxpe2	T	C	9: 48,230,906 (GRCm39)	T488A	probably benign	Het
Or10g3	T	G	14: 52,610,174 (GRCm39)	Q112P	possibly damaging	Het
Or10v1	A	T	19: 11,873,913 (GRCm39)	Y176F	probably benign	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Or7g12	A	T	9: 18,900,192 (GRCm39)	K303*	probably null	Het
Or8k20	C	T	2: 86,106,190 (GRCm39)	V214I	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pan2	T	G	10: 128,144,237 (GRCm39)	L162R	probably damaging	Het
Parp1	G	T	1: 180,416,235 (GRCm39)	V545F	probably damaging	Het
Pcdh18	A	G	3: 49,709,896 (GRCm39)	V473A	probably benign	Het
Plb1	A	T	5: 32,448,582 (GRCm39)	N350I	probably damaging	Het
Polr1a	A	G	6: 71,944,898 (GRCm39)	K1318R	probably benign	Het
Ppp1r18	C	T	17: 36,184,738 (GRCm39)	P130S	probably damaging	Het
Prss48	C	T	3: 85,905,614 (GRCm39)	W86*	probably null	Het
Rab3c	A	T	13: 110,220,744 (GRCm39)	I137N	probably damaging	Het
Rab3gap2	G	C	1: 184,954,099 (GRCm39)	R57P	probably benign	Het
Rad54l2	A	C	9: 106,570,916 (GRCm39)		probably null	Het
Ralgapb	C	A	2: 158,337,483 (GRCm39)	N1147K	probably benign	Het
Rfx7	C	T	9: 72,524,093 (GRCm39)	R428C	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Samd4	T	C	14: 47,311,585 (GRCm39)	F81S	probably damaging	Het
Shprh	T	A	10: 11,059,541 (GRCm39)	Y1097*	probably null	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc24a4	T	A	12: 102,097,876 (GRCm39)	D79E	probably benign	Het
Slc7a13	A	T	4: 19,839,254 (GRCm39)	I286F	probably benign	Het
Smarca1	G	A	X: 46,938,840 (GRCm39)	Q723*	probably null	Het
Spata31d1b	T	C	13: 59,865,882 (GRCm39)	L1010P	probably damaging	Het
Sult2a1	T	C	7: 13,569,900 (GRCm39)	S111G	possibly damaging	Het
Tecpr2	C	T	12: 110,914,346 (GRCm39)	T1219M	probably damaging	Het
Thoc2l	T	A	5: 104,666,196 (GRCm39)	S239R	probably benign	Het
Tmem171	C	A	13: 98,822,924 (GRCm39)	G292*	probably null	Het
Tmtc2	G	T	10: 105,025,969 (GRCm39)	T833N	probably benign	Het
Tnc	G	T	4: 63,918,299 (GRCm39)	T1204K	probably benign	Het
Tnfaip3	T	C	10: 18,883,937 (GRCm39)	K148E	probably benign	Het
Tnrc18	G	A	5: 142,800,895 (GRCm39)	S21F	probably damaging	Het
Tns4	T	C	11: 98,966,401 (GRCm39)	T425A	probably damaging	Het
Tox	T	A	4: 6,688,948 (GRCm39)	Y472F	probably damaging	Het
Trak2	A	T	1: 58,958,014 (GRCm39)		probably null	Het
Trim33	T	A	3: 103,244,760 (GRCm39)	Y716N	probably damaging	Het
Trrap	T	G	5: 144,752,863 (GRCm39)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,978,361 (GRCm39)	E137G	probably benign	Het
Ube2j2	A	G	4: 156,033,483 (GRCm39)	K19R	probably benign	Het
Ubxn2b	T	C	4: 6,208,889 (GRCm39)	I206T	possibly damaging	Het
Usp40	A	G	1: 87,909,778 (GRCm39)	F559L	probably benign	Het
Utp4	T	A	8: 107,638,982 (GRCm39)		probably null	Het
Vac14	A	G	8: 111,409,166 (GRCm39)	N524S	probably benign	Het
Vps13c	T	C	9: 67,801,334 (GRCm39)	S605P	probably damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zdhhc19	C	T	16: 32,317,231 (GRCm39)	R28*	probably null	Het
Zfp106	T	C	2: 120,357,329 (GRCm39)	I1189V	probably benign	Het
Zfp189	C	T	4: 49,529,511 (GRCm39)	Q205*	probably null	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
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
R9200:Tesk1	UTSW	4	43,447,307 (GRCm39)	missense	probably damaging	0.99
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'- ATCAAGCTGCTGGACACACC -3'
(R):5'- TGGGGAATTCACCACCACAG -3'

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

Posted On

2014-06-30