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?

Probably non essential (E-score: 0.186) question?

Stock #

R0009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43441939-43448064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43445368 bp (GRCm38)

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: 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

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: 60,919,633		probably benign	Het
Abcg4	T	G	9: 44,277,649		probably benign	Het
Afm	C	A	5: 90,545,384		probably benign	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Aplnr	T	A	2: 85,137,276		probably null	Het
Arih2	T	A	9: 108,611,727	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,579,835	I886N	possibly damaging	Het
Bmf	A	T	2: 118,549,622	V14E	probably damaging	Het
Ccdc116	T	C	16: 17,144,039	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,135,965	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,299,176	H45R	probably benign	Het
Chd3	A	G	11: 69,349,906	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,516,180	Q457*	probably null	Het
Coro1a	A	T	7: 126,701,413		probably benign	Het
Cracr2b	T	A	7: 141,463,759	L91Q	probably damaging	Het
Ctdspl	T	C	9: 119,020,046		probably null	Het
Dip2b	T	A	15: 100,169,312	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,621,903	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,045,522	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,769,407		probably benign	Het
Dnase1	T	C	16: 4,038,946	V147A	probably damaging	Het
Dusp8	T	C	7: 142,082,054		probably benign	Het
Fer1l6	T	C	15: 58,662,787	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 191,008,191	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209	V311A	probably benign	Het
Glud1	G	A	14: 34,334,268	G300S	probably benign	Het
Gm4847	C	T	1: 166,630,486	V433I	probably benign	Het
Gstm3	T	G	3: 107,967,840	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,862,435	P151S	probably benign	Het
Herc2	T	C	7: 56,207,812	S4048P	probably benign	Het
Hp1bp3	T	A	4: 138,221,683	I19K	probably benign	Het
Htr7	C	A	19: 36,041,540		probably benign	Het
Il1a	C	T	2: 129,309,074	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,624,458	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,379,255	C267R	possibly damaging	Het
Larp1	A	G	11: 58,055,473	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,661,405		probably benign	Het
Lep	T	A	6: 29,068,972	C7*	probably null	Het
Magi2	A	T	5: 20,611,055	Y747F	probably benign	Het
Mast4	T	C	13: 102,742,058	T1223A	probably damaging	Het
Mcc	C	T	18: 44,445,933	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,611,508	I796T	probably benign	Het
Myef2	A	T	2: 125,108,978	D312E	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myo19	T	A	11: 84,888,169		probably null	Het
Naa15	T	G	3: 51,470,219	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,824,902		probably benign	Het
Plpp2	C	T	10: 79,527,244	R184H	probably benign	Het
Rab19	T	G	6: 39,389,687	L179V	probably damaging	Het
Rims2	T	A	15: 39,534,966	M1087K	probably damaging	Het
Riox2	C	A	16: 59,489,367	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,226,293	V123E	probably damaging	Het
Slc35e1	A	T	8: 72,484,709	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,763,602	E604V	probably benign	Het
Srp72	T	C	5: 76,987,885	S221P	probably damaging	Het
Tbx19	A	T	1: 165,160,520	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,685,817	T112A	probably benign	Het
Tm4sf5	C	T	11: 70,510,712	A179V	probably damaging	Het
Tnr	G	T	1: 159,852,416	G320V	probably damaging	Het
Trappc11	A	T	8: 47,503,320	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,914,446	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,002,879	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Xpo5	T	C	17: 46,204,786		probably benign	Het
Zfp637	C	A	6: 117,845,668	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,880,731	D693E	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
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
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'- TCGGACTGGCTGAGAAGATTCCTG -3'
(R):5'- TGTGAGGCTCAAGCTCCACAAAG -3'

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

Posted On

2013-05-23