Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Tesk1'

40460

Institutional Source

Beutler Lab

Gene Symbol

Tesk1

Ensembl Gene

ENSMUSG00000028458

Gene Name

testis specific protein kinase 1

Synonyms

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

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

Stock #

R0009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43442277-43448075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43445368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 230 (D230E)

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: D230E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: D230E

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: ENSMUST00000137178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156810

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

0.4325

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,482 (GRCm39)		probably benign	Het
Abcg4	T	G	9: 44,188,946 (GRCm39)		probably benign	Het
Afm	C	A	5: 90,693,243 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aplnr	T	A	2: 84,967,620 (GRCm39)		probably null	Het
Arih2	T	A	9: 108,488,926 (GRCm39)	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,487,151 (GRCm39)	I886N	possibly damaging	Het
Bmf	A	T	2: 118,380,103 (GRCm39)	V14E	probably damaging	Het
Ccdc116	T	C	16: 16,961,903 (GRCm39)	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,182,739 (GRCm39)	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,432,247 (GRCm39)	H45R	probably benign	Het
Chd3	A	G	11: 69,240,732 (GRCm39)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,443,918 (GRCm39)	Q457*	probably null	Het
Coro1a	A	T	7: 126,300,585 (GRCm39)		probably benign	Het
Cracr2b	T	A	7: 141,043,672 (GRCm39)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,067,193 (GRCm39)	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,671,939 (GRCm39)	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,596,972 (GRCm39)		probably benign	Het
Dnase1	T	C	16: 3,856,810 (GRCm39)	V147A	probably damaging	Het
Dusp8	T	C	7: 141,635,791 (GRCm39)		probably benign	Het
Fer1l6	T	C	15: 58,534,636 (GRCm39)	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 190,740,388 (GRCm39)	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209 (GRCm39)	V311A	probably benign	Het
Glud1	G	A	14: 34,056,225 (GRCm39)	G300S	probably benign	Het
Gm4847	C	T	1: 166,458,055 (GRCm39)	V433I	probably benign	Het
Gstm3	T	G	3: 107,875,156 (GRCm39)	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,746,636 (GRCm39)	P151S	probably benign	Het
Herc2	T	C	7: 55,857,560 (GRCm39)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 137,948,994 (GRCm39)	I19K	probably benign	Het
Htr7	C	A	19: 36,018,940 (GRCm39)		probably benign	Het
Il1a	C	T	2: 129,150,994 (GRCm39)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,500,206 (GRCm39)	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,078,680 (GRCm39)	C267R	possibly damaging	Het
Larp1	A	G	11: 57,946,299 (GRCm39)	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,551,417 (GRCm39)		probably benign	Het
Lep	T	A	6: 29,068,971 (GRCm39)	C7*	probably null	Het
Magi2	A	T	5: 20,816,053 (GRCm39)	Y747F	probably benign	Het
Mast4	T	C	13: 102,878,566 (GRCm39)	T1223A	probably damaging	Het
Mcc	C	T	18: 44,579,000 (GRCm39)	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,502,334 (GRCm39)	I796T	probably benign	Het
Myef2	A	T	2: 124,950,898 (GRCm39)	D312E	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo19	T	A	11: 84,778,995 (GRCm39)		probably null	Het
Naa15	T	G	3: 51,377,640 (GRCm39)	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,618,551 (GRCm39)		probably benign	Het
Plpp2	C	T	10: 79,363,078 (GRCm39)	R184H	probably benign	Het
Rab19	T	G	6: 39,366,621 (GRCm39)	L179V	probably damaging	Het
Rims2	T	A	15: 39,398,362 (GRCm39)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,309,730 (GRCm39)	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,679,327 (GRCm39)	V123E	probably damaging	Het
Slc35e1	A	T	8: 73,238,553 (GRCm39)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,802,762 (GRCm39)	E604V	probably benign	Het
Srp72	T	C	5: 77,135,732 (GRCm39)	S221P	probably damaging	Het
Tbx19	A	T	1: 164,988,089 (GRCm39)	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,327,610 (GRCm39)	T112A	probably benign	Het
Tm4sf5	C	T	11: 70,401,538 (GRCm39)	A179V	probably damaging	Het
Tnr	G	T	1: 159,679,986 (GRCm39)	G320V	probably damaging	Het
Trappc11	A	T	8: 47,956,355 (GRCm39)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,891,810 (GRCm39)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,150,692 (GRCm39)	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Xpo5	T	C	17: 46,515,712 (GRCm39)		probably benign	Het
Zfp637	C	A	6: 117,822,629 (GRCm39)	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,479,903 (GRCm39)	D693E	probably damaging	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
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
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'- TCGGACTGGCTGAGAAGATTCCTG -3'
(R):5'- TGTGAGGCTCAAGCTCCACAAAG -3'

Sequencing Primer
(F):5'- GGTGCCCTATACATGAGTGAACC -3'
(R):5'- AGAGGTTACCTCACCTCAGTG -3'

Posted On

2013-05-23