Mutagenetix > Incidental Mutations

Incidental Mutation 'R6059:Map3k10'

483121

Institutional Source

Beutler Lab

Gene Symbol

Map3k10

Ensembl Gene

ENSMUSG00000040390

Gene Name

mitogen-activated protein kinase kinase kinase 10

Synonyms

Mlk2, serine/threonine kinase, MKN28 derived nonreceptor_type, mixed lineage kinase 2, MKN28 kinase

MMRRC Submission

044225-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6059 (G1)

Quality Score

173.009

Status

Validated

Chromosome

Chromosomal Location

27656375-27674598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27656822 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 891 (S891T)

Ref Sequence

ENSEMBL: ENSMUSP00000103978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008088] [ENSMUST00000036453] [ENSMUST00000108341]

Predicted Effect

probably benign
Transcript: ENSMUST00000008088

SMART Domains

Protein: ENSMUSP00000008088
Gene: ENSMUSG00000007944

Domain	Start	End	E-Value	Type
low complexity region	12	36	N/A	INTRINSIC
low complexity region	49	65	N/A	INTRINSIC
Blast:TPR	66	95	2e-7	BLAST
low complexity region	101	117	N/A	INTRINSIC
Blast:TPR	133	168	1e-10	BLAST
Pfam:TPR_2	169	202	3.3e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000036453
AA Change: S889T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390
AA Change: S889T

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
SH3	19	80	6e-20	SMART
Pfam:Pkinase	98	357	7.4e-59	PFAM
Pfam:Pkinase_Tyr	98	357	3.8e-62	PFAM
coiled coil region	378	449	N/A	INTRINSIC
low complexity region	501	511	N/A	INTRINSIC
low complexity region	524	550	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC
low complexity region	761	778	N/A	INTRINSIC
low complexity region	835	847	N/A	INTRINSIC
low complexity region	870	881	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108341
AA Change: S891T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390
AA Change: S891T

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
SH3	19	80	6e-20	SMART
Pfam:Pkinase_Tyr	98	357	2e-62	PFAM
Pfam:Pkinase	98	358	4.8e-59	PFAM
coiled coil region	378	449	N/A	INTRINSIC
low complexity region	501	511	N/A	INTRINSIC
low complexity region	524	550	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC
low complexity region	761	778	N/A	INTRINSIC
low complexity region	837	849	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC

Meta Mutation Damage Score

0.0932

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (54/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit normal development, reproduction and lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	C	A	17: 48,090,327	T44K	probably benign	Het
4931406P16Rik	G	A	7: 34,245,463	A452V	possibly damaging	Het
Ablim2	A	G	5: 35,857,164	D189G	probably benign	Het
Abo	A	G	2: 26,843,353	V278A	possibly damaging	Het
Anxa1	A	G	19: 20,377,700	F237L	possibly damaging	Het
Atp11b	A	G	3: 35,814,177	Y466C	possibly damaging	Het
Cfh	T	A	1: 140,118,690	K531N	possibly damaging	Het
Cgref1	G	T	5: 30,945,384	P31Q	probably damaging	Het
Clca3a2	G	A	3: 144,810,770	A355V	probably damaging	Het
Cntnap5c	T	A	17: 58,313,712	C929S	probably damaging	Het
Col6a6	A	T	9: 105,783,917	V331D	probably damaging	Het
Cyp4a12b	T	A	4: 115,438,104	V469E	possibly damaging	Het
Dchs2	A	G	3: 83,355,736	S3104G	probably benign	Het
Ddx24	G	T	12: 103,408,300	A875E	probably damaging	Het
Dsc1	A	T	18: 20,110,242	N51K	probably damaging	Het
Epb41l3	A	G	17: 69,284,642	E708G	probably damaging	Het
Epb41l3	C	T	17: 69,286,798	T537I	probably damaging	Het
Fam162b	A	T	10: 51,590,307	C39S	probably benign	Het
Gbf1	T	C	19: 46,265,248	I531T	probably damaging	Het
Glipr1l2	T	C	10: 112,083,518	V48A	probably benign	Het
Gm11639	T	C	11: 105,036,769	I4788T	probably benign	Het
Gm13023	T	G	4: 143,793,980	S101A	possibly damaging	Het
Gorasp1	A	G	9: 119,930,006	V177A	probably damaging	Het
Gys1	A	G	7: 45,455,288		probably null	Het
Hif1a	T	A	12: 73,941,800	V523E	probably damaging	Het
Hnrnph3	A	T	10: 63,018,862		probably benign	Het
Lcn9	C	A	2: 25,824,725	L159I	possibly damaging	Het
Luzp1	C	T	4: 136,541,480	A338V	probably benign	Het
Mmrn2	C	T	14: 34,397,591	Q97*	probably null	Het
Mov10	G	A	3: 104,817,950		probably benign	Het
Ncam1	A	C	9: 49,544,666	Y551D	probably damaging	Het
Ncf1	A	T	5: 134,223,487	Y237N	probably damaging	Het
Nipbl	A	T	15: 8,295,568	I2537N	probably damaging	Het
Nlrp1b	A	T	11: 71,217,010	V555E	possibly damaging	Het
Nod2	T	C	8: 88,664,414	Y428H	probably damaging	Het
Nup133	C	A	8: 123,914,596	A862S	probably damaging	Het
Pcdhgb2	T	A	18: 37,690,025	L23*	probably null	Het
Pclo	A	G	5: 14,811,700	E4889G	unknown	Het
Plcd3	T	A	11: 103,080,401	I110F	possibly damaging	Het
Plxna2	C	A	1: 194,810,971	N1851K	possibly damaging	Het
Ppp2r5c	C	A	12: 110,574,788	A457E	probably benign	Het
Ppp5c	C	T	7: 17,027,907		probably benign	Het
Prg4	T	A	1: 150,449,997	Y1009F	possibly damaging	Het
Rcor3	A	T	1: 192,119,940	M303K	probably benign	Het
Rrn3	G	A	16: 13,806,604	M433I	probably benign	Het
Serpinb9e	G	A	13: 33,257,774	V230M	probably benign	Het
Shisa6	T	A	11: 66,224,974	H279L	probably damaging	Het
Slc38a11	A	T	2: 65,334,745	I234N	probably damaging	Het
Socs1	G	C	16: 10,784,530	F114L	probably damaging	Het
Ssc5d	C	T	7: 4,942,744	T925M	possibly damaging	Het
Stc1	T	C	14: 69,032,438	S156P	probably damaging	Het
Ttc5	C	G	14: 50,777,846	V103L	probably damaging	Het
Vmn1r73	A	G	7: 11,756,611	T119A	probably benign	Het
Vmn2r99	G	A	17: 19,378,980	D309N	probably benign	Het
Vps53	T	C	11: 76,066,867	H353R	possibly damaging	Het
Ythdf3	T	A	3: 16,203,192	Y47*	probably null	Het
Zfp276	T	C	8: 123,267,823	M543T	probably damaging	Het

Other mutations in Map3k10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Map3k10	APN	7	27668469	missense	probably damaging	1.00
IGL00672:Map3k10	APN	7	27661601	missense	probably damaging	0.98
IGL00913:Map3k10	APN	7	27663215	unclassified	probably benign
IGL01383:Map3k10	APN	7	27657999	missense	probably benign	0.15
IGL02683:Map3k10	APN	7	27658937	missense	probably damaging	1.00
R0039:Map3k10	UTSW	7	27658098	missense	possibly damaging	0.95
R0219:Map3k10	UTSW	7	27656731	missense	probably damaging	1.00
R0285:Map3k10	UTSW	7	27673900	missense	probably benign	0.00
R0368:Map3k10	UTSW	7	27663360	missense	probably damaging	0.98
R0724:Map3k10	UTSW	7	27668355	missense	probably damaging	1.00
R0729:Map3k10	UTSW	7	27661567	missense	probably damaging	1.00
R1734:Map3k10	UTSW	7	27658115	missense	probably damaging	1.00
R1847:Map3k10	UTSW	7	27661556	splice site	probably null
R2395:Map3k10	UTSW	7	27673993	missense	unknown
R2517:Map3k10	UTSW	7	27663263	missense	possibly damaging	0.92
R3841:Map3k10	UTSW	7	27658364	missense	possibly damaging	0.91
R4749:Map3k10	UTSW	7	27658361	missense	possibly damaging	0.78
R5269:Map3k10	UTSW	7	27658532	missense	probably benign	0.01
R5822:Map3k10	UTSW	7	27656734	missense	probably damaging	1.00
R6417:Map3k10	UTSW	7	27663284	missense	probably damaging	1.00
R6420:Map3k10	UTSW	7	27663284	missense	probably damaging	1.00
R7903:Map3k10	UTSW	7	27657957	missense	probably damaging	0.99
R8118:Map3k10	UTSW	7	27673417	missense	possibly damaging	0.91
R8191:Map3k10	UTSW	7	27663246	missense	probably damaging	0.99
R8336:Map3k10	UTSW	7	27673459	missense	probably benign	0.25
X0020:Map3k10	UTSW	7	27664462	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGTGAGTATCCTGCCCAG -3'
(R):5'- TTTCCCTAGGTCCTCGAGAC -3'

Sequencing Primer
(F):5'- TACATTCATGGCTGCCCAGG -3'
(R):5'- TCGAGACCCCCTGGACTTC -3'

Posted On

2017-07-14