Mutagenetix > Incidental Mutation

Incidental Mutation 'R8118:Map3k10'

631333

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

067547-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8118 (G1)

Quality Score

163.009

Status

Validated

Chromosome

Chromosomal Location

27355800-27374023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27372842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 203 (V203A)

Ref Sequence

ENSEMBL: ENSMUSP00000037725 (fasta)

Gene Model

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

AlphaFold

Q66L42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036453
AA Change: V203A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390
AA Change: V203A

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: V203A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390
AA Change: V203A

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

probably benign
Transcript: ENSMUST00000138243
AA Change: V203A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.2%
20x: 91.1%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,592,821 (GRCm39)	D792G	probably damaging	Het
Adcy7	A	G	8: 89,042,384 (GRCm39)	H417R	probably damaging	Het
Agr2	A	G	12: 36,046,106 (GRCm39)	D79G	probably benign	Het
Ankle1	T	C	8: 71,860,279 (GRCm39)	S286P	probably benign	Het
Arhgef11	T	C	3: 87,643,164 (GRCm39)	S1488P	probably damaging	Het
Atp6v0a2	T	C	5: 124,789,837 (GRCm39)	M421T	probably damaging	Het
Cdk17	C	A	10: 93,052,252 (GRCm39)	Q111K	possibly damaging	Het
Cimap2	T	A	4: 106,470,595 (GRCm39)	R192S	possibly damaging	Het
Cobl	A	G	11: 12,204,834 (GRCm39)	S623P	probably benign	Het
Dgka	C	T	10: 128,558,318 (GRCm39)		probably null	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dsg2	A	G	18: 20,715,858 (GRCm39)	I267V	probably benign	Het
Exoc4	T	C	6: 33,948,853 (GRCm39)	Y899H	probably damaging	Het
Fat3	A	G	9: 15,871,400 (GRCm39)	F3664L	probably benign	Het
Fbxo47	C	T	11: 97,770,341 (GRCm39)	C17Y	probably benign	Het
Gm2888	G	T	14: 3,037,628 (GRCm38)	V207F	probably benign	Het
Gpr61	A	G	3: 108,057,888 (GRCm39)	S258P	probably damaging	Het
H2-T9	C	T	17: 36,438,582 (GRCm39)	V270M	probably damaging	Het
Hectd4	C	T	5: 121,424,439 (GRCm39)	H700Y	probably benign	Het
Hs3st2	C	T	7: 120,996,651 (GRCm39)	T154I	probably benign	Het
Inf2	A	T	12: 112,567,871 (GRCm39)	H167L	probably damaging	Het
Ints3	C	T	3: 90,307,606 (GRCm39)		probably null	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Itgal	C	A	7: 126,910,417 (GRCm39)	Q509K	probably benign	Het
Klhl20	A	T	1: 160,925,971 (GRCm39)		probably null	Het
Krtap4-13	C	T	11: 99,700,224 (GRCm39)	C145Y	unknown	Het
Large1	A	G	8: 73,858,572 (GRCm39)	S99P	probably benign	Het
Lrba	A	T	3: 86,261,533 (GRCm39)	I1496L	probably benign	Het
Map2	A	T	1: 66,464,550 (GRCm39)	I1647F	probably damaging	Het
Mcmdc2	T	A	1: 9,986,599 (GRCm39)	N166K	possibly damaging	Het
Mlxipl	T	G	5: 135,166,102 (GRCm39)	L828R	possibly damaging	Het
Mnat1	A	G	12: 73,265,864 (GRCm39)	I253V	probably benign	Het
Mtfp1	A	G	11: 4,043,910 (GRCm39)	S107P	probably damaging	Het
Nebl	T	A	2: 17,384,631 (GRCm39)	Y65F	possibly damaging	Het
Nelfb	A	T	2: 25,095,171 (GRCm39)	D339E	possibly damaging	Het
Nlrc3	T	A	16: 3,783,495 (GRCm39)	I20L	probably benign	Het
Nup205	T	A	6: 35,207,451 (GRCm39)	M1501K	probably benign	Het
Or14a258	A	T	7: 86,034,976 (GRCm39)	C297*	probably null	Het
Or1ad8	A	G	11: 50,898,327 (GRCm39)	H176R	probably damaging	Het
Or2t6	A	G	14: 14,175,863 (GRCm38)	I73T	probably damaging	Het
Or4k15b	T	C	14: 50,272,608 (GRCm39)	D84G	probably benign	Het
Or5b123	T	A	19: 13,597,109 (GRCm39)	N151K	probably damaging	Het
Or5g29	T	A	2: 85,421,332 (GRCm39)	Y149*	probably null	Het
Palm3	A	G	8: 84,756,438 (GRCm39)	E650G	probably damaging	Het
Prps1l1	C	A	12: 35,035,340 (GRCm39)	L152M	probably damaging	Het
Rgs7bp	C	A	13: 105,189,629 (GRCm39)	V57F	probably damaging	Het
Scaf8	T	A	17: 3,214,458 (GRCm39)	V171D	unknown	Het
Sf3a2	T	C	10: 80,639,474 (GRCm39)	Y155H	probably damaging	Het
Sfrp1	T	G	8: 23,902,000 (GRCm39)	L67R	probably damaging	Het
Shank2	A	T	7: 143,963,612 (GRCm39)	I407L	probably benign	Het
Skint6	T	C	4: 112,722,872 (GRCm39)	T902A	possibly damaging	Het
Skint6	A	C	4: 113,013,691 (GRCm39)	S353R	possibly damaging	Het
Srrm2	T	A	17: 24,027,057 (GRCm39)	I87N	unknown	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Svs3b	A	G	2: 164,097,926 (GRCm39)	S132P	probably damaging	Het
Tbc1d17	G	T	7: 44,492,426 (GRCm39)	F412L	probably benign	Het
Tex29	A	T	8: 11,904,263 (GRCm39)	E116D	unknown	Het
Tmem204	T	C	17: 25,299,312 (GRCm39)	D69G	possibly damaging	Het
Ttll10	G	A	4: 156,129,219 (GRCm39)	R308C	probably benign	Het
Ttn	T	A	2: 76,577,508 (GRCm39)	I24462F	probably damaging	Het
Tubg2	A	G	11: 101,052,304 (GRCm39)	E411G	probably damaging	Het
Ugt2b38	T	C	5: 87,571,630 (GRCm39)	N134S	probably damaging	Het
Usp31	T	C	7: 121,276,485 (GRCm39)	T351A	probably damaging	Het
Usp33	T	C	3: 152,065,996 (GRCm39)	L92S	probably damaging	Het
Vmn2r20	A	T	6: 123,373,429 (GRCm39)	I471N	probably damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wnk2	A	G	13: 49,244,459 (GRCm39)	V459A	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
R6059:Map3k10	UTSW	7	27,356,247 (GRCm39)	missense	probably damaging	0.99
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
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'- AGTGCCATCTGCTGTCCATTG -3'
(R):5'- AAAGTCTATCGCGCCGTATGG -3'

Sequencing Primer
(F):5'- GCCCTTTCCAACGATCTGGG -3'
(R):5'- TCGGCTGGACCCTGAAC -3'

Posted On

2020-06-30