Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Tesk1'

316446

Institutional Source

Beutler Lab

Gene Symbol

Tesk1

Ensembl Gene

ENSMUSG00000028458

Gene Name

testis specific protein kinase 1

Synonyms

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

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

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43441939-43448064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43443606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 58 (I58V)

Ref Sequence

ENSEMBL: ENSMUSP00000121067 (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

possibly damaging
Transcript: ENSMUST00000060864
AA Change: I58V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: I58V

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

possibly damaging
Transcript: ENSMUST00000138981
AA Change: I58V

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458
AA Change: I58V

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: ENSMUST00000156810

Meta Mutation Damage Score

0.4038

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868		probably null	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757		probably benign	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004	L100P	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
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
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'- AAGGAGTTAACCGCAGACC -3'
(R):5'- ATGACTTGTCCCGACTGTCG -3'

Sequencing Primer
(F):5'- ATCCGGCCATGTGAAGCAG -3'
(R):5'- TGCCGAACCTGGGGGAG -3'

Posted On

2015-05-15