Mutagenetix > Incidental Mutations

Incidental Mutation 'R0285:Map3k10'

65351

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

038506-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0285 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

27656375-27674598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27673900 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 42 (R42L)

Ref Sequence

ENSEMBL: ENSMUSP00000103978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036453] [ENSMUST00000108341] [ENSMUST00000138243]

Predicted Effect

probably benign
Transcript: ENSMUST00000036453
AA Change: R42L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390
AA Change: R42L

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 benign
Transcript: ENSMUST00000108341
AA Change: R42L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390
AA Change: R42L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133551

Predicted Effect

probably benign
Transcript: ENSMUST00000138243
AA Change: R42L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205388

Meta Mutation Damage Score

0.1114

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,533,865	G5S	probably damaging	Het
Acy3	A	G	19: 3,988,193	E162G	probably benign	Het
Angptl1	T	C	1: 156,845,215	S204P	probably benign	Het
Atf6b	C	T	17: 34,650,396		probably benign	Het
Card11	G	A	5: 140,887,101	S619F	probably damaging	Het
Ccl11	G	A	11: 82,062,258	V81I	probably damaging	Het
Cds1	T	C	5: 101,797,038	I126T	probably damaging	Het
Chd1	A	G	17: 17,374,680		probably benign	Het
Cndp1	C	A	18: 84,618,238	V384F	possibly damaging	Het
Cuta	A	G	17: 26,939,449		probably null	Het
Diaph3	G	A	14: 87,115,024	T47I	possibly damaging	Het
Dopey1	A	T	9: 86,512,639	S598C	probably damaging	Het
Dsp	A	G	13: 38,172,794	M217V	probably benign	Het
Esyt1	T	A	10: 128,512,218	I898F	possibly damaging	Het
Fam189a2	G	A	19: 23,979,385		probably benign	Het
Fam205a1	G	A	4: 42,850,236	T640M	probably benign	Het
Fam84b	T	C	15: 60,822,967	H310R	probably benign	Het
Fgd3	A	T	13: 49,263,948	W680R	possibly damaging	Het
Folh1	A	G	7: 86,742,165		probably benign	Het
Fuk	G	C	8: 110,893,717	H235Q	probably benign	Het
Gadl1	C	A	9: 116,030,738		probably benign	Het
Garem1	A	G	18: 21,129,612	M715T	probably benign	Het
Gpd2	A	T	2: 57,338,955	D257V	probably benign	Het
Hdac7	A	G	15: 97,798,222		probably null	Het
Heatr5b	A	G	17: 78,808,453	M858T	probably benign	Het
Inpp4b	A	T	8: 82,034,516		probably benign	Het
Iqgap3	G	T	3: 88,096,990	C461F	probably benign	Het
Lamb1	C	A	12: 31,326,645	C559*	probably null	Het
Lrrc31	T	C	3: 30,684,948	N308S	probably benign	Het
Ly75	T	C	2: 60,318,319	Y1222C	probably damaging	Het
Meioc	A	G	11: 102,672,191	T72A	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,925,668	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,806,559	D650E	probably benign	Het
Ncoa6	T	C	2: 155,415,701	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nol4l	G	A	2: 153,483,853		probably benign	Het
Notch1	T	G	2: 26,460,861	D2089A	possibly damaging	Het
Olfr1156	A	G	2: 87,950,131	I34T	probably damaging	Het
Olfr1419	A	G	19: 11,871,138	L26P	probably damaging	Het
Olfr1449	A	T	19: 12,935,172	M145L	probably benign	Het
Olfr155	G	A	4: 43,854,398	V30M	possibly damaging	Het
Olfr493	A	G	7: 108,346,499	S161P	probably benign	Het
Olfr649	A	T	7: 104,189,324	Y294*	probably null	Het
Olfr930	T	A	9: 38,930,774	I201N	possibly damaging	Het
Otof	C	T	5: 30,379,533		probably null	Het
Paox	T	C	7: 140,129,140	F324L	probably damaging	Het
Pycr1	A	T	11: 120,640,316	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,576,129	H627L	probably damaging	Het
Rab21	G	A	10: 115,290,863	S193L	probably benign	Het
Ralgds	T	G	2: 28,550,569		probably null	Het
Rbm42	A	G	7: 30,645,840	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,110,378	V262A	probably benign	Het
Rhobtb3	A	G	13: 75,877,509	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,601,389	A901T	probably damaging	Het
Ryr2	T	C	13: 11,716,977	D2359G	probably damaging	Het
Sgo2b	A	C	8: 63,928,789	Y336*	probably null	Het
Slc16a7	T	A	10: 125,294,631	I62L	probably benign	Het
Slc22a21	A	T	11: 53,959,196		probably benign	Het
Slc25a21	A	G	12: 56,858,025		probably null	Het
Slc5a4b	T	C	10: 76,062,283	I532M	probably damaging	Het
Srrm4	C	A	5: 116,467,789		probably benign	Het
Stxbp1	C	A	2: 32,823,542	E27D	probably benign	Het
Sult2a5	T	A	7: 13,628,760	Y131N	probably damaging	Het
Svopl	T	C	6: 37,984,522	Q492R	probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Tmem87a	A	G	2: 120,394,424	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,271,430	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,452,868	D346V	probably damaging	Het
Ubr4	A	C	4: 139,440,801	S2820R	probably damaging	Het
Usp4	T	C	9: 108,378,564	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603		probably null	Het
Vill	C	T	9: 119,070,827		probably benign	Het
Vmn1r13	C	A	6: 57,209,994	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,345,611	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,396,557	W797R	probably damaging	Het
Washc2	T	A	6: 116,221,839	D287E	probably damaging	Het
Xpc	G	A	6: 91,498,064	L660F	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
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
R6059:Map3k10	UTSW	7	27656822	missense	probably damaging	0.99
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'- GCGCGATAGACTTTGCCAAAGC -3'
(R):5'- TGACATCGTTGGGGACAGGTGAAC -3'

Sequencing Primer
(F):5'- GACACCGATGATCTCCTCCAG -3'
(R):5'- CGGTCCTATCGTTTGAAAAAGG -3'

Posted On

2013-08-08