Mutagenetix > Incidental Mutation

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

MMRRC Submission

044225-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6059 (G1)

Quality Score

173.009

Status

Validated

Chromosome

Chromosomal Location

27355800-27374023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27356247 bp (GRCm39)

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]

AlphaFold

Q66L42

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: 48,400,847 (GRCm39)	T44K	probably benign	Het
Ablim2	A	G	5: 36,014,508 (GRCm39)	D189G	probably benign	Het
Abo	A	G	2: 26,733,365 (GRCm39)	V278A	possibly damaging	Het
Anxa1	A	G	19: 20,355,064 (GRCm39)	F237L	possibly damaging	Het
Atp11b	A	G	3: 35,868,326 (GRCm39)	Y466C	possibly damaging	Het
Cfh	T	A	1: 140,046,428 (GRCm39)	K531N	possibly damaging	Het
Cgref1	G	T	5: 31,102,728 (GRCm39)	P31Q	probably damaging	Het
Clca3a2	G	A	3: 144,516,531 (GRCm39)	A355V	probably damaging	Het
Cntnap5c	T	A	17: 58,620,707 (GRCm39)	C929S	probably damaging	Het
Col6a6	A	T	9: 105,661,116 (GRCm39)	V331D	probably damaging	Het
Cyp4a12b	T	A	4: 115,295,301 (GRCm39)	V469E	possibly damaging	Het
Dchs2	A	G	3: 83,263,043 (GRCm39)	S3104G	probably benign	Het
Ddx24	G	T	12: 103,374,559 (GRCm39)	A875E	probably damaging	Het
Dsc1	A	T	18: 20,243,299 (GRCm39)	N51K	probably damaging	Het
Efcab3	T	C	11: 104,927,595 (GRCm39)	I4788T	probably benign	Het
Epb41l3	C	T	17: 69,593,793 (GRCm39)	T537I	probably damaging	Het
Epb41l3	A	G	17: 69,591,637 (GRCm39)	E708G	probably damaging	Het
Fam162b	A	T	10: 51,466,403 (GRCm39)	C39S	probably benign	Het
Garre1	G	A	7: 33,944,888 (GRCm39)	A452V	possibly damaging	Het
Gbf1	T	C	19: 46,253,687 (GRCm39)	I531T	probably damaging	Het
Glipr1l2	T	C	10: 111,919,423 (GRCm39)	V48A	probably benign	Het
Gorasp1	A	G	9: 119,759,072 (GRCm39)	V177A	probably damaging	Het
Gys1	A	G	7: 45,104,712 (GRCm39)		probably null	Het
Hif1a	T	A	12: 73,988,574 (GRCm39)	V523E	probably damaging	Het
Hnrnph3	A	T	10: 62,854,641 (GRCm39)		probably benign	Het
Lcn9	C	A	2: 25,714,737 (GRCm39)	L159I	possibly damaging	Het
Luzp1	C	T	4: 136,268,791 (GRCm39)	A338V	probably benign	Het
Mmrn2	C	T	14: 34,119,548 (GRCm39)	Q97*	probably null	Het
Mov10	G	A	3: 104,725,266 (GRCm39)		probably benign	Het
Ncam1	A	C	9: 49,455,966 (GRCm39)	Y551D	probably damaging	Het
Ncf1	A	T	5: 134,252,341 (GRCm39)	Y237N	probably damaging	Het
Nipbl	A	T	15: 8,325,052 (GRCm39)	I2537N	probably damaging	Het
Nlrp1b	A	T	11: 71,107,836 (GRCm39)	V555E	possibly damaging	Het
Nod2	T	C	8: 89,391,042 (GRCm39)	Y428H	probably damaging	Het
Nup133	C	A	8: 124,641,335 (GRCm39)	A862S	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,078 (GRCm39)	L23*	probably null	Het
Pclo	A	G	5: 14,861,714 (GRCm39)	E4889G	unknown	Het
Plcd3	T	A	11: 102,971,227 (GRCm39)	I110F	possibly damaging	Het
Plxna2	C	A	1: 194,493,279 (GRCm39)	N1851K	possibly damaging	Het
Ppp2r5c	C	A	12: 110,541,222 (GRCm39)	A457E	probably benign	Het
Ppp5c	C	T	7: 16,761,832 (GRCm39)		probably benign	Het
Pramel25	T	G	4: 143,520,550 (GRCm39)	S101A	possibly damaging	Het
Prg4	T	A	1: 150,325,748 (GRCm39)	Y1009F	possibly damaging	Het
Rcor3	A	T	1: 191,804,240 (GRCm39)	M303K	probably benign	Het
Rrn3	G	A	16: 13,624,468 (GRCm39)	M433I	probably benign	Het
Serpinb9e	G	A	13: 33,441,757 (GRCm39)	V230M	probably benign	Het
Shisa6	T	A	11: 66,115,800 (GRCm39)	H279L	probably damaging	Het
Slc38a11	A	T	2: 65,165,089 (GRCm39)	I234N	probably damaging	Het
Socs1	G	C	16: 10,602,394 (GRCm39)	F114L	probably damaging	Het
Ssc5d	C	T	7: 4,945,743 (GRCm39)	T925M	possibly damaging	Het
Stc1	T	C	14: 69,269,887 (GRCm39)	S156P	probably damaging	Het
Ttc5	C	G	14: 51,015,303 (GRCm39)	V103L	probably damaging	Het
Vmn1r73	A	G	7: 11,490,538 (GRCm39)	T119A	probably benign	Het
Vmn2r99	G	A	17: 19,599,242 (GRCm39)	D309N	probably benign	Het
Vps53	T	C	11: 75,957,693 (GRCm39)	H353R	possibly damaging	Het
Ythdf3	T	A	3: 16,257,356 (GRCm39)	Y47*	probably null	Het
Zfp276	T	C	8: 123,994,562 (GRCm39)	M543T	probably damaging	Het

Other mutations in Map3k10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Map3k10	APN	7	27,367,894 (GRCm39)	missense	probably damaging	1.00
IGL00672:Map3k10	APN	7	27,361,026 (GRCm39)	missense	probably damaging	0.98
IGL00913:Map3k10	APN	7	27,362,640 (GRCm39)	unclassified	probably benign
IGL01383:Map3k10	APN	7	27,357,424 (GRCm39)	missense	probably benign	0.15
IGL02683:Map3k10	APN	7	27,358,362 (GRCm39)	missense	probably damaging	1.00
R0039:Map3k10	UTSW	7	27,357,523 (GRCm39)	missense	possibly damaging	0.95
R0219:Map3k10	UTSW	7	27,356,156 (GRCm39)	missense	probably damaging	1.00
R0285:Map3k10	UTSW	7	27,373,325 (GRCm39)	missense	probably benign	0.00
R0368:Map3k10	UTSW	7	27,362,785 (GRCm39)	missense	probably damaging	0.98
R0724:Map3k10	UTSW	7	27,367,780 (GRCm39)	missense	probably damaging	1.00
R0729:Map3k10	UTSW	7	27,360,992 (GRCm39)	missense	probably damaging	1.00
R1734:Map3k10	UTSW	7	27,357,540 (GRCm39)	missense	probably damaging	1.00
R1847:Map3k10	UTSW	7	27,360,981 (GRCm39)	splice site	probably null
R2395:Map3k10	UTSW	7	27,373,418 (GRCm39)	missense	unknown
R2517:Map3k10	UTSW	7	27,362,688 (GRCm39)	missense	possibly damaging	0.92
R3841:Map3k10	UTSW	7	27,357,789 (GRCm39)	missense	possibly damaging	0.91
R4749:Map3k10	UTSW	7	27,357,786 (GRCm39)	missense	possibly damaging	0.78
R5269:Map3k10	UTSW	7	27,357,957 (GRCm39)	missense	probably benign	0.01
R5822:Map3k10	UTSW	7	27,356,159 (GRCm39)	missense	probably damaging	1.00
R6417:Map3k10	UTSW	7	27,362,709 (GRCm39)	missense	probably damaging	1.00
R6420:Map3k10	UTSW	7	27,362,709 (GRCm39)	missense	probably damaging	1.00
R7903:Map3k10	UTSW	7	27,357,382 (GRCm39)	missense	probably damaging	0.99
R8118:Map3k10	UTSW	7	27,372,842 (GRCm39)	missense	possibly damaging	0.91
R8191:Map3k10	UTSW	7	27,362,671 (GRCm39)	missense	probably damaging	0.99
R8336:Map3k10	UTSW	7	27,372,884 (GRCm39)	missense	probably benign	0.25
R8697:Map3k10	UTSW	7	27,362,784 (GRCm39)	missense	probably benign	0.13
R8699:Map3k10	UTSW	7	27,367,780 (GRCm39)	missense	probably damaging	0.99
R9237:Map3k10	UTSW	7	27,357,842 (GRCm39)	nonsense	probably null
R9526:Map3k10	UTSW	7	27,364,434 (GRCm39)	missense	probably damaging	1.00
X0020:Map3k10	UTSW	7	27,363,887 (GRCm39)	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