Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Map3k6'

411002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k6

Ensembl Gene

ENSMUSG00000028862

Gene Name

mitogen-activated protein kinase kinase kinase 6

Synonyms

Ask2, MAPKKK6, MEKK6

Accession Numbers

Essential gene?

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

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133249688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 819 (I819F)

Ref Sequence

ENSEMBL: ENSMUSP00000030677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030674] [ENSMUST00000030677] [ENSMUST00000105908]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030674

SMART Domains

Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860

Domain	Start	End	E-Value	Type
PDB:3BC1\|F	40	92	2e-9	PDB
low complexity region	169	183	N/A	INTRINSIC
low complexity region	235	262	N/A	INTRINSIC
C2	288	389	2.36e-17	SMART
C2	429	532	6.96e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000030677
AA Change: I819F

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

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: I819F

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

probably benign
Transcript: ENSMUST00000105908

SMART Domains

Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860

Domain	Start	End	E-Value	Type
PDB:3BC1\|F	40	92	2e-9	PDB
low complexity region	157	171	N/A	INTRINSIC
low complexity region	223	250	N/A	INTRINSIC
C2	276	359	3.15e-4	SMART
C2	364	467	6.96e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154911

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 77,409,538		probably benign	Het
Arhgap42	A	G	9: 9,008,084	I546T	possibly damaging	Het
Arsj	A	T	3: 126,439,404		probably benign	Het
Ash2l	A	G	8: 25,818,622	V543A	probably benign	Het
B4galnt3	A	G	6: 120,231,594		probably benign	Het
Blvra	T	A	2: 127,082,951	V11E	probably damaging	Het
Calcb	T	C	7: 114,720,136	L51P	probably damaging	Het
Cd36	T	A	5: 17,820,565	K52N	probably benign	Het
Cebpz	T	C	17: 78,922,553	N857S	probably benign	Het
Ces1b	A	G	8: 93,064,874		probably benign	Het
Clspn	T	C	4: 126,576,502		probably benign	Het
Cr2	A	T	1: 195,166,366	L283H	probably damaging	Het
Ctc1	T	C	11: 69,031,161	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,501,419	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,653,734	N83D	probably benign	Het
Eci2	T	C	13: 34,988,313	T146A	probably benign	Het
Erbin	T	C	13: 103,841,163	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,144,283	E45G	probably damaging	Het
Fat4	A	G	3: 38,991,685	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653	V311A	probably benign	Het
Garem1	G	T	18: 21,131,466	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451	I37T	probably benign	Het
Ikzf5	T	C	7: 131,396,765	K13E	probably damaging	Het
Kl	T	A	5: 150,982,735	C523*	probably null	Het
Klhl7	G	A	5: 24,159,689	V574I	probably benign	Het
Lyst	T	C	13: 13,681,444	V2450A	probably benign	Het
Mphosph9	T	C	5: 124,263,011	E891G	probably damaging	Het
Myo7b	A	G	18: 32,014,302	S63P	probably damaging	Het
Ndufaf7	C	T	17: 78,945,010	R283C	possibly damaging	Het
Nepro	G	T	16: 44,727,099	A60S	probably damaging	Het
Nop56	T	C	2: 130,277,525	S354P	probably damaging	Het
Nwd2	T	A	5: 63,805,995	L974H	probably damaging	Het
Olfr1253	T	C	2: 89,752,828		probably null	Het
Olfr600	A	T	7: 103,346,849	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,261,507		probably benign	Het
Parp12	C	T	6: 39,114,231	D142N	probably benign	Het
Pcdh15	G	A	10: 74,630,695	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,909,480	T70M	probably benign	Het
Pld4	T	C	12: 112,766,829	F280L	probably benign	Het
Ppm1k	C	A	6: 57,524,774	A135S	probably damaging	Het
Prkcq	A	T	2: 11,232,545	Y45F	probably benign	Het
Prom1	T	A	5: 44,029,734	I385F	probably damaging	Het
Prss12	A	G	3: 123,505,387	N603D	probably benign	Het
Ptbp2	G	T	3: 119,720,425	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,243,183	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,058,429	Y42H	possibly damaging	Het
Serpina9	G	A	12: 104,008,610	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,085,292	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 63,926,583	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,789,820	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,423,023	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619	I209N	probably benign	Het
Tmc4	T	A	7: 3,667,178	I484L	probably benign	Het
Ttll5	G	A	12: 85,918,984	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,944,041	M391V	probably benign	Het
Xpo5	T	A	17: 46,215,814		probably null	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
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
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

Posted On

2016-08-02