Mutagenetix > Incidental Mutation

Incidental Mutation 'R6476:Map3k6'

516773

Institutional Source

Beutler Lab

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 #

R6476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133250086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 915 (S915C)

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: S915C

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

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: S915C

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	C	19: 5,503,225	I176S	probably damaging	Het
a	T	C	2: 155,050,779	V126A	probably benign	Het
Adamts20	T	C	15: 94,361,810	Q336R	probably benign	Het
Ankrd36	A	G	11: 5,628,753	T6A	probably benign	Het
Arhgap33	A	G	7: 30,524,412	S731P	probably damaging	Het
Arhgef10l	G	C	4: 140,611,382	P23R	probably damaging	Het
Atf7	T	C	15: 102,593,712	D3G	probably benign	Het
Caps2	A	G	10: 112,175,560	T30A	possibly damaging	Het
Ccdc15	A	T	9: 37,342,419	I191N	probably benign	Het
Cep170	A	T	1: 176,780,351	S180T	possibly damaging	Het
Chd1	G	A	17: 17,380,988		probably null	Het
Col6a3	A	T	1: 90,781,812	N1887K	unknown	Het
Csgalnact1	C	T	8: 68,461,109	S148N	probably damaging	Het
Csgalnact1	T	A	8: 68,461,110	S148C	probably damaging	Het
D10Jhu81e	T	C	10: 78,167,513	N102D	probably damaging	Het
Dnah14	A	G	1: 181,744,768	E2888G	probably benign	Het
Dnah7b	T	A	1: 46,242,204	Y2808*	probably null	Het
Dock10	A	C	1: 80,541,242	L1254*	probably null	Het
Eml2	T	C	7: 19,196,311	V511A	probably benign	Het
Eml6	A	G	11: 29,791,971		probably null	Het
Erbin	C	A	13: 103,841,247	D601Y	probably damaging	Het
Fam35a	T	C	14: 34,268,014	S312G	probably benign	Het
Farsa	A	G	8: 84,857,180	E49G	probably damaging	Het
Fzd7	A	G	1: 59,483,995	M346V	probably damaging	Het
Glg1	A	C	8: 111,200,174	S170A	possibly damaging	Het
Gm21994	T	C	2: 150,255,326	D61G	probably benign	Het
Gm340	C	T	19: 41,583,079	T237I	probably benign	Het
Gpx3	A	T	11: 54,907,199	I54F	probably damaging	Het
H6pd	G	A	4: 149,982,727	H401Y	probably damaging	Het
Hspb8	A	G	5: 116,422,398	S28P	probably damaging	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Krt9	A	T	11: 100,190,814	D296E	probably damaging	Het
Lnx1	A	G	5: 74,607,880	V349A	possibly damaging	Het
Mecom	C	A	3: 29,980,568	A510S	possibly damaging	Het
Mettl14	A	G	3: 123,374,037	I224T	probably damaging	Het
Mme	T	C	3: 63,343,635		probably null	Het
Nbea	T	A	3: 56,004,806	T1187S	probably benign	Het
Ndor1	T	C	2: 25,248,142	T444A	possibly damaging	Het
Nhlrc1	A	G	13: 47,014,181	L200P	possibly damaging	Het
Npc1	G	T	18: 12,201,694	S667*	probably null	Het
Olfr1009	T	A	2: 85,721,584	Y60N	probably damaging	Het
Olfr1214	T	A	2: 88,987,377	D275V	probably benign	Het
Olfr294	C	T	7: 86,616,010	V212I	probably benign	Het
Olfr355	T	A	2: 36,927,583	H177L	possibly damaging	Het
Olfr557	T	A	7: 102,699,103	N288K	possibly damaging	Het
Pds5a	A	C	5: 65,634,287	I773R	possibly damaging	Het
Pgr	T	A	9: 8,964,838		probably null	Het
Plscr4	A	T	9: 92,490,766	M314L	probably benign	Het
Polr2m	A	G	9: 71,483,470	V46A	probably benign	Het
Ptk2b	T	A	14: 66,187,474	M174L	possibly damaging	Het
Sec31a	A	T	5: 100,386,149	F521I	probably benign	Het
Serpinb3d	T	C	1: 107,083,341	N47S	probably benign	Het
Slc17a2	C	A	13: 23,812,586	H25N	probably damaging	Het
Slc24a3	T	A	2: 145,606,830	D431E	probably benign	Het
Slc9a9	T	C	9: 94,685,138	F87L	probably benign	Het
Spata31	T	A	13: 64,917,642	S54T	possibly damaging	Het
Spata6	T	C	4: 111,774,823	S144P	probably damaging	Het
Sppl2c	A	G	11: 104,186,769	N132D	probably benign	Het
Ssu2	C	T	6: 112,374,832	G311S	probably damaging	Het
Syne1	T	A	10: 5,154,531	Q6328L	possibly damaging	Het
Tie1	T	C	4: 118,472,865	T1054A	possibly damaging	Het
Tnfaip6	T	G	2: 52,052,316	D212E	probably benign	Het
Tnxb	A	G	17: 34,690,192	T1442A	probably damaging	Het
Trim35	C	T	14: 66,308,795	T337M	probably damaging	Het
Vipr1	T	C	9: 121,669,423	V413A	probably benign	Het
Vmn1r19	C	G	6: 57,404,593	Q44E	probably damaging	Het
Zfp266	G	T	9: 20,499,281	H533Q	probably damaging	Het
Zfp689	T	C	7: 127,444,724	S245G	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
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'- TCAGCACCTCTGATCTGATCG -3'
(R):5'- GCCTTGGGAATGTCTGAGAC -3'

Sequencing Primer
(F):5'- GATCGTGGGGTTATCTATCCCATC -3'
(R):5'- AATGTCTGAGACTGTGTGGC -3'

Posted On

2018-05-21