Mutagenetix > Incidental Mutation

Incidental Mutation 'R5269:Map3k10'

472487

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

042834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5269 (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 27357957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 607 (E607G)

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 benign
Transcript: ENSMUST00000036453
AA Change: E607G

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

SMART Domains

Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390
AA Change: E607G

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: E607G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390
AA Change: E607G

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

0.0604

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (71/71)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Adam39	A	G	8: 41,279,018 (GRCm39)	I470V	probably benign	Het
Agrn	A	T	4: 156,253,447 (GRCm39)	C1708S	probably benign	Het
Agtpbp1	A	G	13: 59,621,557 (GRCm39)	I42T	probably damaging	Het
Akap6	T	C	12: 53,186,626 (GRCm39)	C1347R	probably damaging	Het
Antxr1	A	G	6: 87,157,165 (GRCm39)	L452P	probably damaging	Het
Arhgef33	T	A	17: 80,677,704 (GRCm39)	V417D	probably damaging	Het
Brca2	A	G	5: 150,462,688 (GRCm39)	I817M	possibly damaging	Het
Casp4	A	T	9: 5,321,521 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,861,882 (GRCm39)	Y21H	possibly damaging	Het
Cdr2	C	T	7: 120,557,557 (GRCm39)	V323M	possibly damaging	Het
Cebpa	G	A	7: 34,819,283 (GRCm39)	R147H	probably benign	Het
Cetn4	C	A	3: 37,364,118 (GRCm39)	E31*	probably null	Het
Cobll1	G	A	2: 64,964,115 (GRCm39)	Q189*	probably null	Het
Colec12	A	G	18: 9,846,825 (GRCm39)	T74A	possibly damaging	Het
Crisp4	A	G	1: 18,198,934 (GRCm39)	S124P	probably damaging	Het
Eddm3b	T	A	14: 51,354,178 (GRCm39)	D55E	probably damaging	Het
Elmo1	C	A	13: 20,633,656 (GRCm39)	N439K	probably benign	Het
Fabp12	T	C	3: 10,315,167 (GRCm39)	N60S	probably benign	Het
Fat2	T	A	11: 55,178,704 (GRCm39)	H1452L	probably benign	Het
Flacc1	A	G	1: 58,730,919 (GRCm39)	S46P	possibly damaging	Het
Flrt2	T	C	12: 95,746,712 (GRCm39)	V350A	possibly damaging	Het
Ganab	T	C	19: 8,889,301 (GRCm39)	F626S	probably damaging	Het
Ghr	T	C	15: 3,349,561 (GRCm39)	Y539C	probably benign	Het
Gm6871	T	C	7: 41,197,525 (GRCm39)	T112A	probably damaging	Het
Gm7133	T	A	1: 97,110,848 (GRCm39)		noncoding transcript	Het
Gon4l	A	C	3: 88,802,835 (GRCm39)	I1149L	probably benign	Het
Greb1l	G	A	18: 10,511,409 (GRCm39)	D45N	probably benign	Het
H2-K2	A	G	17: 34,215,989 (GRCm39)		probably benign	Het
Herc2	C	T	7: 55,818,618 (GRCm39)	R2770*	probably null	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itsn2	A	G	12: 4,683,553 (GRCm39)		probably benign	Het
Klb	A	G	5: 65,506,140 (GRCm39)	D129G	probably damaging	Het
Klf1	A	G	8: 85,629,969 (GRCm39)	I265V	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mroh6	A	G	15: 75,757,639 (GRCm39)	L457P	probably damaging	Het
Mrpl21	T	A	19: 3,337,012 (GRCm39)	C128S	probably damaging	Het
Or51f23	T	C	7: 102,453,327 (GRCm39)	V214A	probably benign	Het
Paqr4	G	T	17: 23,957,187 (GRCm39)	H105Q	probably damaging	Het
Pcdhga10	A	G	18: 37,881,747 (GRCm39)	I503V	probably benign	Het
Pds5a	T	C	5: 65,821,271 (GRCm39)	N151S	probably damaging	Het
Pif1	A	G	9: 65,499,111 (GRCm39)	T444A	possibly damaging	Het
Ppp2r3d	T	C	9: 101,031,064 (GRCm39)	R851G	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Ros1	T	G	10: 51,927,104 (GRCm39)	Q2172P	probably damaging	Het
Rpe65	A	G	3: 159,309,984 (GRCm39)	T86A	probably benign	Het
Rpl18a	G	A	8: 71,348,932 (GRCm39)	R15C	possibly damaging	Het
Sh3tc2	A	G	18: 62,108,684 (GRCm39)	K258R	probably benign	Het
Ska3	T	A	14: 58,059,573 (GRCm39)	E84V	possibly damaging	Het
Slc25a40	T	A	5: 8,497,409 (GRCm39)		probably null	Het
Slf1	A	T	13: 77,252,700 (GRCm39)	S274T	probably benign	Het
Spata21	A	T	4: 140,830,332 (GRCm39)	Q267H	probably damaging	Het
Strbp	A	T	2: 37,517,455 (GRCm39)	W207R	possibly damaging	Het
Taf6l	T	C	19: 8,752,326 (GRCm39)	E454G	probably damaging	Het
Tcam1	C	A	11: 106,176,353 (GRCm39)	L360I	probably benign	Het
Tnxb	G	A	17: 34,922,582 (GRCm39)	R2465H	possibly damaging	Het
Trim66	T	A	7: 109,056,797 (GRCm39)	Y1120F	probably benign	Het
Trp53	T	A	11: 69,480,031 (GRCm39)	M243K	probably damaging	Het
Ttl	T	A	2: 128,910,831 (GRCm39)	C72S	probably damaging	Het
Ttn	A	G	2: 76,539,240 (GRCm39)	V34582A	probably benign	Het
Uqcrh	T	C	4: 115,927,101 (GRCm39)	T31A	possibly damaging	Het
Usp40	A	G	1: 87,923,504 (GRCm39)	C256R	probably benign	Het
Vmn1r168	A	G	7: 23,240,839 (GRCm39)	E232G	probably benign	Het
Wdr72	A	T	9: 74,064,653 (GRCm39)	I562F	probably damaging	Het
Wnt4	A	G	4: 137,005,061 (GRCm39)	N24S	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
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
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'- AGAAGAGACTGTCCAGCCAG -3'
(R):5'- CCCTCATTTTCAGAAGCAAGG -3'

Sequencing Primer
(F):5'- AGCGTGGCACAGCTTAG -3'
(R):5'- GCAAGGCTTTAAAGAGAGAGATTTG -3'

Posted On

2017-04-13