Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02728:Map3k5'

305310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k5

Ensembl Gene

ENSMUSG00000071369

Gene Name

mitogen-activated protein kinase kinase kinase 5

Synonyms

ASK, ASK1, 7420452D20Rik, Mekk5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

19934472-20142753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20118292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1008 (D1008G)

Ref Sequence

ENSEMBL: ENSMUSP00000112864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095806] [ENSMUST00000120259]

AlphaFold

O35099

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095806
AA Change: D1016G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093485
Gene: ENSMUSG00000071369
AA Change: D1016G

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	80	99	N/A	INTRINSIC
Pfam:DUF4071	172	552	2.1e-162	PFAM
S_TKc	687	945	8.08e-92	SMART
low complexity region	1195	1207	N/A	INTRINSIC
low complexity region	1225	1238	N/A	INTRINSIC
coiled coil region	1251	1292	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120259
AA Change: D1008G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112864
Gene: ENSMUSG00000071369
AA Change: D1008G

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	80	99	N/A	INTRINSIC
Pfam:DUF4071	172	544	1.7e-156	PFAM
S_TKc	679	937	8.08e-92	SMART
low complexity region	1187	1199	N/A	INTRINSIC
low complexity region	1217	1230	N/A	INTRINSIC
coiled coil region	1243	1284	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are overtly normal, however apoptosis abnormalities are evident in cultured cells and after induced heart damage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,191,827		probably benign	Het
Als2	A	G	1: 59,196,347	V726A	probably benign	Het
Apba1	G	A	19: 23,944,905	G779E	possibly damaging	Het
Atr	T	A	9: 95,936,475	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,826,503	K566E	probably damaging	Het
Btd	T	C	14: 31,667,362	F347L	probably benign	Het
Btg2	T	C	1: 134,078,905		probably benign	Het
Cblb	T	A	16: 52,183,309	S717T	probably benign	Het
Cep250	T	A	2: 155,983,278		probably benign	Het
Cep350	T	C	1: 155,953,222	N312S	probably benign	Het
Clasp1	A	T	1: 118,602,377	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,984,104	C2906S	probably benign	Het
Csmd1	C	T	8: 15,999,779		probably null	Het
Cspg4	T	A	9: 56,886,481	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,072,575	D469V	probably damaging	Het
Dhh	A	T	15: 98,894,311		probably null	Het
Dhrs3	A	G	4: 144,920,072	R231G	probably damaging	Het
Disp3	A	G	4: 148,272,038	S122P	probably damaging	Het
Dnah1	T	C	14: 31,283,998	I2275V	probably benign	Het
Dock8	A	C	19: 25,132,220	N922T	probably benign	Het
Eef1d	A	G	15: 75,903,096	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,273,482	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,686,752		probably benign	Het
Emb	A	G	13: 117,232,765	M50V	probably benign	Het
Eml4	T	C	17: 83,473,139		probably null	Het
Fkbp10	G	T	11: 100,415,977	R65L	probably damaging	Het
Gm10436	G	T	12: 88,176,022	H275Q	probably benign	Het
Gm5878	T	C	6: 85,118,592	N83S	probably benign	Het
Gm8165	C	T	14: 43,676,237	A57T	unknown	Het
Gpr179	A	G	11: 97,337,900	V1143A	probably damaging	Het
Hat1	T	C	2: 71,421,260	Y218H	probably damaging	Het
Hfm1	T	A	5: 106,878,823	N885I	probably benign	Het
Inha	T	C	1: 75,509,447	S129P	probably damaging	Het
Ints9	T	C	14: 64,993,008	I128T	probably damaging	Het
Klra9	T	C	6: 130,191,186		probably null	Het
Lrba	A	G	3: 86,776,049	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,801,398	N3356D	probably benign	Het
Med4	T	A	14: 73,517,975	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,338,742	V254A	possibly damaging	Het
Napg	C	T	18: 62,994,304		probably benign	Het
Olfr173	C	T	16: 58,797,480	R122H	probably benign	Het
Olfr339	T	C	2: 36,422,144	S249P	possibly damaging	Het
Olfr823	T	A	10: 130,112,618	R57S	probably damaging	Het
Olfr853	A	G	9: 19,537,846	F28S	possibly damaging	Het
Olfr924	T	C	9: 38,848,926	S271P	probably damaging	Het
Pias1	T	A	9: 62,923,644	S161C	probably damaging	Het
Pias1	G	T	9: 62,923,645	N160K	possibly damaging	Het
Pigp	G	A	16: 94,367,607	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,092,327	V1070E	probably benign	Het
Prepl	T	C	17: 85,070,582	T457A	probably damaging	Het
Psg23	G	A	7: 18,606,928	A467V	probably benign	Het
Rad54l	T	C	4: 116,122,949	R13G	probably benign	Het
Rassf5	T	C	1: 131,180,599	D248G	probably damaging	Het
Rspo1	A	G	4: 125,005,162	N92S	probably damaging	Het
Scube1	G	A	15: 83,659,016		probably benign	Het
Sec31b	C	A	19: 44,523,115	V616F	probably damaging	Het
Sema3a	T	C	5: 13,565,914	V435A	probably damaging	Het
Slc7a10	T	A	7: 35,197,698	I208N	probably damaging	Het
Stab2	A	T	10: 86,856,556	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,175,219	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,700,517	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,704,715	W570R	probably damaging	Het
Telo2	A	T	17: 25,104,654	F600I	probably damaging	Het
Trim36	T	A	18: 46,172,602	H426L	probably benign	Het
Trpm6	A	T	19: 18,809,652	N531Y	possibly damaging	Het
Ttc30a1	T	A	2: 75,980,849	M297L	probably benign	Het
Ttc39a	T	C	4: 109,442,723	C470R	probably damaging	Het
Ttn	C	T	2: 76,784,939	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,468,811	I1253F	probably damaging	Het
Unc79	A	T	12: 103,122,429	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,715,016	C89S	probably benign	Het
Wdr55	A	G	18: 36,763,382	E375G	probably benign	Het

Other mutations in Map3k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Map3k5	APN	10	19935044	missense	possibly damaging	0.73
IGL00978:Map3k5	APN	10	20141567	missense	probably damaging	1.00
IGL01470:Map3k5	APN	10	20118187	missense	possibly damaging	0.89
IGL01992:Map3k5	APN	10	20029133	nonsense	probably null
IGL02479:Map3k5	APN	10	20056484	missense	probably damaging	1.00
IGL02812:Map3k5	APN	10	20025036	missense	probably damaging	1.00
IGL03104:Map3k5	APN	10	20132055	missense	probably benign
P0033:Map3k5	UTSW	10	20132213	splice site	probably benign
PIT4434001:Map3k5	UTSW	10	20026257	missense	probably damaging	0.98
R0284:Map3k5	UTSW	10	20000613	missense	probably damaging	0.99
R1103:Map3k5	UTSW	10	20023676	missense	probably benign	0.00
R1172:Map3k5	UTSW	10	20056648	intron	probably benign
R1250:Map3k5	UTSW	10	20110775	missense	possibly damaging	0.73
R1493:Map3k5	UTSW	10	20029113	missense	probably damaging	1.00
R1634:Map3k5	UTSW	10	20136911	missense	possibly damaging	0.64
R1693:Map3k5	UTSW	10	20104242	missense	probably damaging	1.00
R1713:Map3k5	UTSW	10	20110847	missense	possibly damaging	0.79
R1832:Map3k5	UTSW	10	20099560	missense	probably damaging	1.00
R1844:Map3k5	UTSW	10	20104163	missense	probably benign	0.33
R1869:Map3k5	UTSW	10	20132109	nonsense	probably null
R2156:Map3k5	UTSW	10	20024937	missense	probably damaging	1.00
R2214:Map3k5	UTSW	10	20026289	critical splice donor site	probably null
R2221:Map3k5	UTSW	10	20067920	missense	possibly damaging	0.96
R2223:Map3k5	UTSW	10	20067920	missense	possibly damaging	0.96
R2249:Map3k5	UTSW	10	20127697	missense	probably damaging	0.99
R2418:Map3k5	UTSW	10	20110857	missense	probably benign	0.02
R2513:Map3k5	UTSW	10	20094455	missense	possibly damaging	0.92
R3014:Map3k5	UTSW	10	20094429	missense	probably damaging	1.00
R3770:Map3k5	UTSW	10	20025019	missense	probably damaging	0.99
R3814:Map3k5	UTSW	10	20026190	missense	probably damaging	0.99
R3814:Map3k5	UTSW	10	20140680	missense	probably damaging	0.99
R4706:Map3k5	UTSW	10	20058938	missense	probably damaging	1.00
R4749:Map3k5	UTSW	10	20132052	missense	probably benign	0.42
R4903:Map3k5	UTSW	10	20118489	missense	probably null	1.00
R4958:Map3k5	UTSW	10	20023789	missense	possibly damaging	0.79
R5065:Map3k5	UTSW	10	20082467	missense	probably damaging	1.00
R5210:Map3k5	UTSW	10	20024901	missense	possibly damaging	0.82
R5245:Map3k5	UTSW	10	20140691	missense	probably benign	0.00
R5304:Map3k5	UTSW	10	20108238	missense	probably benign	0.13
R5428:Map3k5	UTSW	10	20023653	missense	possibly damaging	0.93
R5566:Map3k5	UTSW	10	20110719	missense	probably damaging	1.00
R5914:Map3k5	UTSW	10	20104255	missense	probably benign	0.24
R6155:Map3k5	UTSW	10	20118441	missense	probably benign	0.01
R6161:Map3k5	UTSW	10	20000575	missense	probably damaging	0.98
R6191:Map3k5	UTSW	10	20023669	missense	probably damaging	0.99
R6251:Map3k5	UTSW	10	20138260	splice site	probably null
R6800:Map3k5	UTSW	10	20141580	makesense	probably null
R7304:Map3k5	UTSW	10	20099555	missense	probably damaging	1.00
R7722:Map3k5	UTSW	10	20132145	missense	probably benign	0.04
R8058:Map3k5	UTSW	10	20132114	missense	probably damaging	0.99
R8207:Map3k5	UTSW	10	20110866	frame shift	probably null
R8827:Map3k5	UTSW	10	20026257	missense	probably damaging	0.98
R8977:Map3k5	UTSW	10	20079254	missense	possibly damaging	0.88
RF024:Map3k5	UTSW	10	20100172	missense	probably damaging	1.00
X0017:Map3k5	UTSW	10	20118434	missense	probably damaging	0.98

Posted On

2015-04-16