Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Tesk1'

574154

Institutional Source

Beutler Lab

Gene Symbol

Tesk1

Ensembl Gene

ENSMUSG00000028458

Gene Name

testis specific protein kinase 1

Synonyms

MMRRC Submission

045483-MU

Accession Numbers

Essential gene?

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

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43442277-43448075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43445743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 265 (D265E)

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: D265E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
AA Change: D265E

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,268 (GRCm39)	L152Q	probably benign	Het
Abcg3	A	T	5: 105,114,640 (GRCm39)	N292K	probably damaging	Het
Adamts3	T	A	5: 89,855,309 (GRCm39)		probably null	Het
Adgrg7	T	C	16: 56,562,781 (GRCm39)	N519D	probably benign	Het
Adsl	A	G	15: 80,846,983 (GRCm39)	H263R	probably damaging	Het
Ak9	A	T	10: 41,299,000 (GRCm39)	D1567V	unknown	Het
Bscl2	T	C	19: 8,823,914 (GRCm39)	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,569,306 (GRCm39)	T873S	probably benign	Het
Cacna1c	T	C	6: 119,029,669 (GRCm39)		probably null	Het
Cast	G	T	13: 74,956,577 (GRCm39)	A18E	unknown	Het
Cd207	A	C	6: 83,654,830 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,203,678 (GRCm39)	S130P	probably benign	Het
Cfap52	A	T	11: 67,840,459 (GRCm39)	N157K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chaf1b	G	T	16: 93,681,268 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,215,870 (GRCm39)	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,466 (GRCm39)	V362I	probably benign	Het
Crem	A	G	18: 3,295,329 (GRCm39)	S80P	probably damaging	Het
Csnk1g3	C	T	18: 54,063,390 (GRCm39)	T267I	probably damaging	Het
Cyth1	A	T	11: 118,073,077 (GRCm39)	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,678,537 (GRCm39)	G594S	probably benign	Het
Enpp1	C	T	10: 24,521,180 (GRCm39)	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,622,979 (GRCm39)	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,759,479 (GRCm39)	V426L	probably benign	Het
Fes	A	G	7: 80,028,524 (GRCm39)		probably null	Het
Gmeb1	C	A	4: 131,953,085 (GRCm39)	L560F	probably damaging	Het
Hace1	T	C	10: 45,546,722 (GRCm39)	L452P	probably damaging	Het
Hecw2	T	A	1: 53,943,502 (GRCm39)	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1r2	T	A	1: 40,162,370 (GRCm39)	C338S	probably damaging	Het
Iqcn	T	C	8: 71,169,921 (GRCm39)	I1337T	probably benign	Het
Kcnb1	T	C	2: 167,030,204 (GRCm39)	S114G	probably damaging	Het
Lce1c	A	T	3: 92,587,623 (GRCm39)	T17S	unknown	Het
Lhfpl4	C	A	6: 113,153,627 (GRCm39)	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,279,594 (GRCm39)	E988G	possibly damaging	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Neurod1	T	A	2: 79,285,290 (GRCm39)	D31V	probably benign	Het
Neurod4	A	G	10: 130,106,927 (GRCm39)	C116R	probably damaging	Het
Nisch	A	G	14: 30,928,537 (GRCm39)	V28A	probably benign	Het
Odad1	A	C	7: 45,592,189 (GRCm39)	Q323P	probably damaging	Het
Or4a72	A	G	2: 89,405,449 (GRCm39)	V207A	probably benign	Het
Or5d44	T	G	2: 88,141,772 (GRCm39)	M123L	probably benign	Het
Pabpc4l	T	A	3: 46,401,024 (GRCm39)	R207W	probably damaging	Het
Pabpc4l	A	T	3: 46,400,687 (GRCm39)	I319N	probably damaging	Het
Pcm1	G	A	8: 41,762,568 (GRCm39)	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,706,867 (GRCm39)	A557T	probably benign	Het
Prkdc	T	A	16: 15,466,602 (GRCm39)	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,046,959 (GRCm39)	V259A	probably benign	Het
Psmd3	A	T	11: 98,576,466 (GRCm39)	T123S	probably benign	Het
Ptgr2	G	T	12: 84,339,103 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,141 (GRCm39)	H66R	probably benign	Het
Rftn2	A	G	1: 55,233,401 (GRCm39)		probably null	Het
Rsph14	T	A	10: 74,865,628 (GRCm39)	E70V	possibly damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag9	A	T	11: 93,988,515 (GRCm39)	T862S	probably benign	Het
Ssbp2	T	A	13: 91,839,002 (GRCm39)	D291E	probably benign	Het
Supt5	T	C	7: 28,023,197 (GRCm39)	K329E	probably damaging	Het
Syne2	G	T	12: 76,014,155 (GRCm39)	K3115N	probably damaging	Het
Tars1	A	T	15: 11,392,095 (GRCm39)	L239*	probably null	Het
Tbxa2r	T	C	10: 81,168,625 (GRCm39)	Y105H	probably benign	Het
Tril	T	C	6: 53,795,266 (GRCm39)	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,873,268 (GRCm39)	R204G	probably null	Het
Twnk	A	G	19: 45,000,219 (GRCm39)	D645G	probably benign	Het
Umodl1	A	T	17: 31,217,122 (GRCm39)	D1118V	probably damaging	Het
Unc119	T	C	11: 78,238,071 (GRCm39)	I83T	probably benign	Het
Unc80	T	C	1: 66,685,574 (GRCm39)	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,910,416 (GRCm39)	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,790,067 (GRCm39)	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,728,806 (GRCm39)	L123S	probably damaging	Het
Zfpm2	A	G	15: 40,966,386 (GRCm39)	E957G	possibly 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
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
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
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'- TGCAGACCCTGACTACCTAC -3'
(R):5'- TGATTTCAGTAAAAGGGGCCCG -3'

Sequencing Primer
(F):5'- TACCTACCCCGCACTGAGG -3'
(R):5'- TAAAGACAGGGCAGCTTCGCTC -3'

Posted On

2019-09-13