Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Map3k10'

199567

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

039766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27355800-27374023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27357540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 746 (D746G)

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: D746G

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

SMART Domains

Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390
AA Change: D746G

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: D746G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390
AA Change: D746G

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

0.1240

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,738 (GRCm39)	S442P	probably benign	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,307,809 (GRCm39)	T210A	probably benign	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Or14a256	C	T	7: 86,265,425 (GRCm39)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Pepd	A	T	7: 34,730,851 (GRCm39)	D301V	probably benign	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,369,683 (GRCm39)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Syce2	G	A	8: 85,613,776 (GRCm39)	E168K	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,603,901 (GRCm39)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,667,289 (GRCm39)	E198G	probably benign	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
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
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'- AAAGATTGCTTGGACAGGCCCCAC -3'
(R):5'- TCCCATTGCAGAAGAATTTGCGGAG -3'

Sequencing Primer
(F):5'- AGGCTCCCGTTGTCTCAAAG -3'
(R):5'- TAAGCTGTGCCACGCTG -3'

Posted On

2014-05-23