Mutagenetix > Incidental Mutation

Incidental Mutation 'R7216:Map3k6'

561446

Institutional Source

Beutler Lab

Gene Symbol

Map3k6

Ensembl Gene

ENSMUSG00000028862

Gene Name

mitogen-activated protein kinase kinase kinase 6

Synonyms

Ask2, MAPKKK6, MEKK6

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R7216 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 133246900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 536 (V536G)

Ref Sequence

ENSEMBL: ENSMUSP00000030677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030677]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030677
AA Change: V536G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: V536G

Domain	Start	End	E-Value	Type
low complexity region	98	109	N/A	INTRINSIC
Pfam:DUF4071	130	508	2.3e-150	PFAM
S_TKc	649	907	3.49e-87	SMART
low complexity region	925	940	N/A	INTRINSIC
low complexity region	947	960	N/A	INTRINSIC
low complexity region	975	990	N/A	INTRINSIC
low complexity region	1130	1146	N/A	INTRINSIC
coiled coil region	1164	1195	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,140,457	N1551K	probably benign	Het
Amy2a1	T	C	3: 113,530,441	D150G	possibly damaging	Het
Atp2b1	T	A	10: 98,986,977	C165S	probably benign	Het
Atp2c1	A	T	9: 105,467,731	D102E	probably benign	Het
Capn8	C	A	1: 182,598,798	R233S	possibly damaging	Het
Cd48	T	C	1: 171,695,822	S78P	probably damaging	Het
Clasp1	T	A	1: 118,547,918	D944E	probably benign	Het
Clip2	A	G	5: 134,502,917	M678T	probably benign	Het
Clmp	T	C	9: 40,760,909	Y12H	possibly damaging	Het
Col22a1	A	T	15: 71,973,845	V356D	probably damaging	Het
Copg2	A	T	6: 30,885,600	D101E	probably damaging	Het
Cpsf6	G	A	10: 117,362,023	P229S	unknown	Het
Dgke	T	C	11: 89,050,337	D340G	probably benign	Het
Dlg1	TAAA	TAA	16: 31,796,918		probably null	Het
Dlg5	G	A	14: 24,136,638	Q1865*	probably null	Het
Dnajc2	C	T	5: 21,776,779	R123Q	probably damaging	Het
E430018J23Rik	A	G	7: 127,391,523	S431P	probably benign	Het
Egln2	T	C	7: 27,159,829	D365G	probably damaging	Het
Epha4	T	C	1: 77,444,984	D287G	probably damaging	Het
Fat4	A	G	3: 38,891,043	T1362A	probably damaging	Het
Flt4	A	G	11: 49,634,681	T685A	possibly damaging	Het
Fras1	T	C	5: 96,739,314	Y2652H	probably damaging	Het
Gas2	A	G	7: 51,897,257	E52G	possibly damaging	Het
Gm11639	A	T	11: 104,880,549	K2633N	possibly damaging	Het
Gm13103	A	G	4: 143,851,829	I220V	probably damaging	Het
Gm5093	A	T	17: 46,440,088	D4E	not run	Het
Gm6370	A	T	5: 146,493,913	T303S	probably benign	Het
Gpr161	A	G	1: 165,306,546	I126V	probably benign	Het
Gpr63	T	C	4: 25,008,038	L254P	probably damaging	Het
H2-M9	C	T	17: 36,640,702	V294I	probably benign	Het
Insr	T	A	8: 3,203,034	N375I	possibly damaging	Het
Ints1	T	C	5: 139,768,984	N600S	possibly damaging	Het
Ints10	A	G	8: 68,822,157	N628S	probably damaging	Het
Irf2	A	G	8: 46,793,556	T20A	probably benign	Het
Irs1	T	A	1: 82,289,755	T247S	probably damaging	Het
Islr	C	T	9: 58,156,967	S419N	unknown	Het
Kcna2	T	A	3: 107,104,793	I230N	probably damaging	Het
Kif3c	C	A	12: 3,366,126	A49E	probably benign	Het
Kifap3	A	T	1: 163,795,989	K108N	probably damaging	Het
Lama3	T	A	18: 12,430,000	F527I	probably damaging	Het
Layn	A	G	9: 51,077,052		probably benign	Het
Lims2	G	T	18: 31,957,262	W276L	probably damaging	Het
Lsp1	T	C	7: 142,488,442	L133S	probably damaging	Het
Med7	T	A	11: 46,440,854	L92H	probably damaging	Het
Mllt1	A	G	17: 56,927,042	V48A	probably damaging	Het
Mpp5	G	A	12: 78,797,232	R70H	probably damaging	Het
Neurl4	T	A	11: 69,910,262	V1153E	probably damaging	Het
Nkx2-1	A	C	12: 56,534,802	C87G	probably damaging	Het
Nsun7	T	C	5: 66,278,657	S291P	probably damaging	Het
Olfr148	A	T	9: 39,614,494	Q309L	probably benign	Het
Olfr1508	G	A	14: 52,463,488	P174S	probably damaging	Het
Olfr406	A	T	11: 74,269,724	I112F	probably damaging	Het
Olfr46	A	T	7: 140,610,460	N90I	possibly damaging	Het
Olfr829	T	A	9: 18,857,336	M237K	probably benign	Het
Pbrm1	A	G	14: 31,045,422	Y331C	possibly damaging	Het
Pirb	T	A	7: 3,716,274	T539S	probably benign	Het
Plch2	T	G	4: 154,984,228	T1314P	probably benign	Het
Polk	T	C	13: 96,508,220	S133G	probably benign	Het
Prdm5	A	T	6: 65,927,983	K533*	probably null	Het
Prmt1	T	A	7: 44,983,573	Q35H	probably benign	Het
Pum3	A	T	19: 27,424,225	W142R	probably damaging	Het
Rest	G	A	5: 77,282,608	R958H	probably benign	Het
Rictor	C	T	15: 6,769,301	T343M	probably damaging	Het
Ripor2	G	A	13: 24,671,903	G109R	probably damaging	Het
Sec62	C	T	3: 30,818,829	Q354*	probably null	Het
Snx14	T	C	9: 88,381,791	Y847C	probably damaging	Het
Soga1	T	C	2: 157,018,370	R1650G	possibly damaging	Het
Sox7	A	T	14: 63,947,989	D158V	probably benign	Het
Spag8	A	G	4: 43,652,034	V350A	possibly damaging	Het
Syngr1	A	T	15: 80,111,733	I158F	probably damaging	Het
Tacstd2	C	A	6: 67,534,995	V238L	probably benign	Het
Tex15	T	C	8: 33,572,986	S815P	possibly damaging	Het
Tmem117	A	T	15: 94,714,912	T110S	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,495	I836T	probably benign	Het
Trim30b	C	A	7: 104,357,362	V96L	probably benign	Het
Tssk3	TGCTATCATGGGG	TG	4: 129,489,313		probably null	Het
Tyk2	G	T	9: 21,120,526	H418N	probably benign	Het
Uap1	G	T	1: 170,158,903	T170K	probably damaging	Het
Vmn1r40	T	C	6: 89,714,624	V141A	not run	Het
Vmn1r54	T	A	6: 90,269,665	I187K	probably damaging	Het
Vmp1	C	T	11: 86,602,033	V317M	probably damaging	Het
Wnt8b	A	G	19: 44,512,072	K366R	probably benign	Het
Zfp207	C	T	11: 80,395,178	P415L	unknown	Het
Zfp263	A	G	16: 3,744,571	E66G	probably damaging	Het
Zfp985	T	A	4: 147,583,456	H260Q	probably damaging	Het
Zmiz1	GCC	GC	14: 25,576,200		probably null	Het
Zmiz1	A	C	14: 25,576,207	Q46P	probably damaging	Het
Zmiz1	A	G	14: 25,576,209	R47G	probably damaging	Het

Other mutations in Map3k6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Map3k6	APN	4	133243044	splice site	probably benign
IGL01060:Map3k6	APN	4	133247302	splice site	probably null
IGL01116:Map3k6	APN	4	133247128	missense	probably damaging	0.98
IGL01341:Map3k6	APN	4	133248060	missense	possibly damaging	0.67
IGL02383:Map3k6	APN	4	133246621	splice site	probably null
IGL03090:Map3k6	APN	4	133243366	missense	probably benign	0.05
IGL03096:Map3k6	APN	4	133251345	nonsense	probably null
IGL03149:Map3k6	APN	4	133249688	missense	probably damaging	1.00
R0110:Map3k6	UTSW	4	133243794	missense	probably damaging	1.00
R0142:Map3k6	UTSW	4	133250946	missense	probably benign
R0189:Map3k6	UTSW	4	133246941	missense	possibly damaging	0.46
R0368:Map3k6	UTSW	4	133252659	missense	probably benign	0.23
R0417:Map3k6	UTSW	4	133248082	nonsense	probably null
R0595:Map3k6	UTSW	4	133241263	missense	probably damaging	0.98
R0597:Map3k6	UTSW	4	133245552	missense	possibly damaging	0.46
R0699:Map3k6	UTSW	4	133248126	missense	probably damaging	1.00
R1099:Map3k6	UTSW	4	133247128	missense	probably damaging	1.00
R1113:Map3k6	UTSW	4	133245815	missense	probably damaging	1.00
R1308:Map3k6	UTSW	4	133245815	missense	probably damaging	1.00
R1607:Map3k6	UTSW	4	133252473	missense	probably damaging	1.00
R2217:Map3k6	UTSW	4	133246672	missense	possibly damaging	0.46
R3734:Map3k6	UTSW	4	133248396	missense	possibly damaging	0.79
R3735:Map3k6	UTSW	4	133246372	missense	probably benign	0.21
R3743:Map3k6	UTSW	4	133245073	missense	probably benign	0.26
R4244:Map3k6	UTSW	4	133251947	missense	possibly damaging	0.65
R4245:Map3k6	UTSW	4	133251947	missense	possibly damaging	0.65
R4465:Map3k6	UTSW	4	133246333	missense	possibly damaging	0.66
R4482:Map3k6	UTSW	4	133243399	missense	probably benign	0.00
R4827:Map3k6	UTSW	4	133248849	missense	possibly damaging	0.92
R5092:Map3k6	UTSW	4	133251743	missense	probably benign	0.00
R5110:Map3k6	UTSW	4	133247548	intron	probably benign
R5258:Map3k6	UTSW	4	133247642	missense	possibly damaging	0.81
R5369:Map3k6	UTSW	4	133247681	missense	probably damaging	0.99
R5642:Map3k6	UTSW	4	133245544	missense	probably damaging	0.99
R5648:Map3k6	UTSW	4	133243335	missense	probably benign	0.25
R6102:Map3k6	UTSW	4	133247131	critical splice donor site	probably null
R6144:Map3k6	UTSW	4	133245675	missense	probably damaging	1.00
R6476:Map3k6	UTSW	4	133250086	missense	probably damaging	0.98
R6511:Map3k6	UTSW	4	133248078	missense	probably damaging	0.98
R6522:Map3k6	UTSW	4	133250024	missense	possibly damaging	0.65
R6706:Map3k6	UTSW	4	133250939	nonsense	probably null
R6874:Map3k6	UTSW	4	133250656	missense	probably benign	0.02
R7069:Map3k6	UTSW	4	133251712	missense	probably benign	0.01
R7417:Map3k6	UTSW	4	133248396	missense	probably benign	0.43
R7538:Map3k6	UTSW	4	133251927	missense	probably benign
R7569:Map3k6	UTSW	4	133250077	missense	probably benign	0.04
R8003:Map3k6	UTSW	4	133248882	missense	probably benign	0.05
R8407:Map3k6	UTSW	4	133247593	missense	possibly damaging	0.95
R8817:Map3k6	UTSW	4	133246760	missense	probably benign	0.00
R8939:Map3k6	UTSW	4	133252643	unclassified	probably benign
R9285:Map3k6	UTSW	4	133245559	missense	probably damaging	1.00
R9308:Map3k6	UTSW	4	133243411	missense	probably damaging	1.00
R9400:Map3k6	UTSW	4	133241156	missense	probably damaging	1.00
R9401:Map3k6	UTSW	4	133241156	missense	probably damaging	1.00
R9573:Map3k6	UTSW	4	133252463	missense	probably damaging	0.99
R9677:Map3k6	UTSW	4	133241116	missense	probably benign	0.04
R9682:Map3k6	UTSW	4	133248108	missense	possibly damaging	0.61
R9745:Map3k6	UTSW	4	133252472	missense	probably damaging	1.00
R9751:Map3k6	UTSW	4	133251857	critical splice acceptor site	probably null
Z1088:Map3k6	UTSW	4	133245066	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCTGCTACAATCTTGCCAG -3'
(R):5'- TCACCTGATCCCACAGATGG -3'

Sequencing Primer
(F):5'- TGCCAGCCTTTCAAGATGG -3'
(R):5'- TCCAGCTGGAAGGATCCTC -3'

Posted On

2019-06-26