Mutagenetix > Incidental Mutation

Incidental Mutation 'R0597:Map3k6'

55107

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

038786-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R0597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133245552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 341 (P341S)

Ref Sequence

ENSEMBL: ENSMUSP00000030677 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030677
AA Change: P341S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: P341S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127681

Meta Mutation Damage Score

0.1110

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,525,062		probably null	Het
Anxa11	T	C	14: 25,874,228	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,526,446	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,841,425		probably benign	Het
Btn2a2	T	A	13: 23,486,410	H51L	probably benign	Het
Casz1	T	C	4: 148,944,394	S1099P	probably benign	Het
Cnot4	A	G	6: 35,051,503	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,184,461		probably benign	Het
Cobl	T	C	11: 12,254,699	T586A	probably benign	Het
Crocc	A	G	4: 141,017,071	L1838P	probably benign	Het
Crocc	T	C	4: 141,019,913	K1528R	probably benign	Het
Dact2	A	G	17: 14,197,041	V299A	probably benign	Het
Dapk1	C	A	13: 60,761,384	N1270K	probably benign	Het
Ddx41	T	C	13: 55,533,006	Y375C	probably damaging	Het
Dock5	T	A	14: 67,784,934		probably null	Het
Dyrk4	T	G	6: 126,886,649		probably null	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam210b	A	G	2: 172,345,853		probably benign	Het
Fbxl13	A	G	5: 21,614,714	I229T	probably benign	Het
Fbxo39	A	G	11: 72,316,921	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,720,496	E120G	probably damaging	Het
Fbxw2	A	T	2: 34,811,020	L261Q	probably damaging	Het
Gm13084	G	T	4: 143,812,652	N90K	probably damaging	Het
Gm5800	A	C	14: 51,716,004	N51K	probably benign	Het
Gm6899	A	G	11: 26,593,768		probably benign	Het
Gm9745	C	A	13: 8,940,766		probably benign	Het
Gpx8	T	C	13: 113,045,501	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351	V1095M	probably damaging	Het
Grip2	T	C	6: 91,796,197		probably benign	Het
Hacd4	A	G	4: 88,437,520	F43L	probably damaging	Het
Hif1a	T	G	12: 73,942,275	S645R	probably benign	Het
Hipk3	A	G	2: 104,433,637	S839P	possibly damaging	Het
Il16	A	T	7: 83,677,975		probably benign	Het
Il3ra	T	A	14: 14,351,166		probably null	Het
Il5ra	A	G	6: 106,744,335	M1T	probably null	Het
Klra2	G	A	6: 131,220,185	R251C	probably benign	Het
Lamc2	C	T	1: 153,133,621	V813M	probably benign	Het
Lbr	A	G	1: 181,832,213	V139A	probably benign	Het
Lrp5	T	C	19: 3,600,777	D1219G	possibly damaging	Het
Mcts2	A	G	2: 152,687,689	E140G	probably benign	Het
Med1	T	C	11: 98,169,438	M222V	probably benign	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Muc19	A	T	15: 91,900,502		noncoding transcript	Het
Nr1h2	A	G	7: 44,552,260		probably benign	Het
Olfr1361	C	A	13: 21,659,146	R59L	probably damaging	Het
Olfr205	A	T	16: 59,328,760	F250I	probably damaging	Het
Olfr682-ps1	A	G	7: 105,128,218	V73A	possibly damaging	Het
Olfr71	A	T	4: 43,706,592		probably null	Het
P4hb	G	A	11: 120,568,244	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,484,134	V101A	probably benign	Het
Pou4f2	A	G	8: 78,435,240	S245P	probably benign	Het
Rnpep	A	G	1: 135,272,419	V266A	probably damaging	Het
Scly	G	A	1: 91,309,833	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,074,814	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,735,100	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,172,124	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,865,884	F377L	probably benign	Het
Slc44a3	T	C	3: 121,460,070	I625V	probably benign	Het
Slc47a2	A	T	11: 61,309,976	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 83,035,653		noncoding transcript	Het
Smarcd1	T	A	15: 99,711,094	I383N	probably damaging	Het
Sort1	A	G	3: 108,338,910	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,288,590	M1I	probably null	Het
Sycp2	A	C	2: 178,356,580	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,354,928	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,565	C303*	probably null	Het
Vmn2r23	A	G	6: 123,729,721	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,346,877	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399	N1882D	probably benign	Het
Zfp91	T	C	19: 12,770,095	I555V	possibly 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
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
R7216:Map3k6	UTSW	4	133246900	missense	probably damaging	0.99
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'- TGTCCAAGGTCGCTACTCCTTAGAG -3'
(R):5'- TCAGAGTCTTCGAAATGCTGCCC -3'

Sequencing Primer
(F):5'- AGAAATCCCTTCCATCTGGAGTC -3'
(R):5'- TGAATGGATGCCCGCAAC -3'

Posted On

2013-07-11