Mutagenetix > Incidental Mutations

Incidental Mutation 'R2517:Map3k10'

253932

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

040421-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2517 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

27656375-27674598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27663263 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 466 (K466R)

Ref Sequence

ENSEMBL: ENSMUSP00000103978 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036453
AA Change: K466R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390
AA Change: K466R

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

possibly damaging
Transcript: ENSMUST00000108341
AA Change: K466R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390
AA Change: K466R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152032

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.2%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,594	D65G	probably benign	Het
Adcy4	C	A	14: 55,781,946	E82D	probably damaging	Het
AF067061	T	A	13: 120,263,939	C46*	probably null	Het
Ago1	G	A	4: 126,439,939	R486*	probably null	Het
Ago2	T	A	15: 73,124,242	N346I	possibly damaging	Het
Apol11a	A	T	15: 77,517,195	D294V	probably benign	Het
Atp13a5	A	G	16: 29,297,397	F634L	possibly damaging	Het
Atp2a2	G	A	5: 122,457,513	P953L	probably damaging	Het
Brca2	A	G	5: 150,539,672	D967G	probably benign	Het
Bud13	A	T	9: 46,288,148	H269L	probably benign	Het
Cachd1	A	T	4: 100,980,882		probably null	Het
Cog3	T	C	14: 75,741,742	D188G	probably benign	Het
Col15a1	T	C	4: 47,208,492	S20P	probably damaging	Het
Col4a3	A	G	1: 82,680,710	D838G	unknown	Het
Cwh43	A	T	5: 73,421,543	T298S	probably benign	Het
Dip2c	A	G	13: 9,609,005	R847G	probably damaging	Het
Dnah2	C	T	11: 69,516,644	D438N	probably damaging	Het
Drg2	T	C	11: 60,468,128	V358A	probably damaging	Het
Eif4enif1	T	A	11: 3,221,168	W220R	probably damaging	Het
Enpp2	A	T	15: 54,919,694	I75K	probably damaging	Het
Fam110c	T	C	12: 31,075,239	I400T	probably damaging	Het
Fam193b	C	A	13: 55,542,816	R711L	probably damaging	Het
Fgfr1	T	C	8: 25,563,446	Y246H	probably damaging	Het
Frs3	G	A	17: 47,703,072	R230Q	probably benign	Het
Galnt5	A	G	2: 57,999,413	K342E	probably benign	Het
Glrb	A	T	3: 80,861,747	L189Q	probably damaging	Het
Gmeb2	T	C	2: 181,259,026	T193A	probably benign	Het
Gnl3	A	G	14: 31,014,163	S307P	probably damaging	Het
Golim4	A	T	3: 75,892,859	F443I	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Klf10	A	C	15: 38,297,113	Y228D	probably benign	Het
Klrc3	A	T	6: 129,639,557	W166R	probably damaging	Het
Kng2	A	T	16: 22,988,315	I378N	probably benign	Het
Mrrf	C	T	2: 36,189,097	T245M	probably benign	Het
Msi1	A	G	5: 115,445,458	Y239C	probably damaging	Het
Nfasc	A	G	1: 132,597,763		probably null	Het
Olfr1375	T	A	11: 51,048,473	L122Q	probably damaging	Het
Olfr843	A	T	9: 19,249,061	C113S	probably benign	Het
Pkd1l1	T	C	11: 8,958,900	E368G	unknown	Het
Polq	G	A	16: 37,089,325	G2078D	probably damaging	Het
Ppfibp1	A	C	6: 146,992,444	I134L	probably damaging	Het
Rasip1	A	T	7: 45,634,823	I608F	probably damaging	Het
Ripk3	A	T	14: 55,788,035	V24E	probably damaging	Het
Rtkn	T	A	6: 83,147,545	I110N	probably damaging	Het
Scn1a	C	T	2: 66,273,832	V1695I	probably damaging	Het
Shank2	A	G	7: 144,052,305	N75S	possibly damaging	Het
Snu13	C	A	15: 82,043,981	A14S	probably benign	Het
Snx27	A	C	3: 94,531,234	D231E	probably damaging	Het
Spef2	A	G	15: 9,725,197	I158T	possibly damaging	Het
Sptb	A	G	12: 76,649,869	I19T	possibly damaging	Het
Ssu72	T	C	4: 155,733,513	L175P	probably damaging	Het
Tecr	C	T	8: 83,572,575	V248I	probably benign	Het
Tnfrsf13b	T	G	11: 61,141,476	S59A	probably benign	Het
Tom1l1	T	C	11: 90,671,125	T150A	possibly damaging	Het
Ubr3	A	T	2: 69,936,018	Y410F	probably damaging	Het
Vmn2r108	A	G	17: 20,472,315	I93T	probably damaging	Het
Vmn2r19	A	G	6: 123,329,978	T482A	probably benign	Het
Vstm4	T	A	14: 32,863,707	M77K	probably benign	Het
Zbtb17	C	T	4: 141,464,585	T309I	probably damaging	Het
Zfp957	T	C	14: 79,214,054	T102A	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	unclassified	probably null
R2395:Map3k10	UTSW	7	27673993	missense	unknown
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
R7986:Map3k10	UTSW	7	27657957	missense	probably damaging	0.99
X0020:Map3k10	UTSW	7	27664462	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTTAAGATGCTGAGGGTGC -3'
(R):5'- TGTGAACTCAGAGCCGATGC -3'

Sequencing Primer
(F):5'- CAGCTCGGTGGGAAAACC -3'
(R):5'- AGCTAAGCCCTACCTCTGG -3'

Posted On

2014-12-04