Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02969:Tesk1'

365734

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tesk1

Ensembl Gene

ENSMUSG00000028458

Gene Name

testis specific protein kinase 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

IGL02969

Quality Score

Status

Chromosome

Chromosomal Location

43441939-43448064 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 43447026 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 471 (C471*)

Ref Sequence

ENSEMBL: ENSMUSP00000050087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030179] [ENSMUST00000060864] [ENSMUST00000098104] [ENSMUST00000098105] [ENSMUST00000107925] [ENSMUST00000107926] [ENSMUST00000138981]

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 null
Transcript: ENSMUST00000060864
AA Change: C471*

SMART Domains

Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: C471*

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,220,237		probably benign	Het
1700061G19Rik	A	T	17: 56,883,751	T440S	probably damaging	Het
Akap12	T	A	10: 4,354,864	V558E	probably damaging	Het
Atg4c	T	C	4: 99,258,387		probably benign	Het
Atg7	T	A	6: 114,724,923	N673K	possibly damaging	Het
BC005561	C	T	5: 104,519,343	T577I	probably benign	Het
Brpf3	A	G	17: 28,821,305	D900G	probably benign	Het
C2cd5	T	C	6: 143,079,943	Y176C	probably damaging	Het
Cep70	A	T	9: 99,298,504	I571F	possibly damaging	Het
Cir1	C	T	2: 73,303,776	G150R	probably null	Het
Cyp46a1	T	C	12: 108,343,037	V68A	probably damaging	Het
Dlgap2	A	G	8: 14,831,579	T883A	possibly damaging	Het
Dnah2	C	A	11: 69,521,187	K249N	possibly damaging	Het
Dnajc11	A	G	4: 151,978,046	K434R	probably benign	Het
Eri3	A	G	4: 117,649,311	Y279C	probably damaging	Het
Gm3259	C	T	5: 95,341,399	P234S	probably benign	Het
Hectd4	T	A	5: 121,365,053	Y4362N	possibly damaging	Het
Ilk	A	G	7: 105,740,340	K85E	possibly damaging	Het
Insrr	G	T	3: 87,814,191	G1135*	probably null	Het
Itgax	T	A	7: 128,149,123	M1108K	probably benign	Het
Mpzl3	C	T	9: 45,068,216	T155I	probably benign	Het
Olfr1308	A	T	2: 111,960,567	C169S	probably damaging	Het
Olfr805	A	T	10: 129,723,196	M116K	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polr2h	A	G	16: 20,719,057	Y68C	probably damaging	Het
Rhobtb3	A	G	13: 75,943,431	S2P	probably damaging	Het
Slc24a5	T	C	2: 125,083,227	S263P	probably damaging	Het
Spz1	T	G	13: 92,575,343	K208N	possibly damaging	Het
Tbpl2	C	A	2: 24,091,093	C231F	probably damaging	Het
Tdrd6	T	C	17: 43,627,549	I869M	probably damaging	Het
Tmem213	T	A	6: 38,115,666	V111E	probably damaging	Het
Tmem232	A	T	17: 65,256,563	Y612N	possibly damaging	Het
Ttn	T	C	2: 76,899,363		probably benign	Het
Vmn2r113	G	A	17: 22,958,617	V792I	probably benign	Het
Wdfy1	A	G	1: 79,713,871	V273A	probably benign	Het
Wwp1	A	G	4: 19,623,200	S762P	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
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
X0064:Tesk1	UTSW	4	43443534	missense	probably damaging	1.00

Posted On

2015-12-18