Mutagenetix > Incidental Mutations

Incidental Mutation 'R3851:Map4k3'

275941

Institutional Source

Beutler Lab

Gene Symbol

Map4k3

Ensembl Gene

ENSMUSG00000024242

Gene Name

mitogen-activated protein kinase kinase kinase kinase 3

Synonyms

MMRRC Submission

040899-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80580512-80728093 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 80644323 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025089] [ENSMUST00000112389]

Predicted Effect

probably benign
Transcript: ENSMUST00000025089

SMART Domains

Protein: ENSMUSP00000025089
Gene: ENSMUSG00000024242

Domain	Start	End	E-Value	Type
S_TKc	16	273	9.71e-95	SMART
low complexity region	299	304	N/A	INTRINSIC
low complexity region	413	421	N/A	INTRINSIC
low complexity region	428	440	N/A	INTRINSIC
low complexity region	467	491	N/A	INTRINSIC
CNH	561	874	2e-115	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112389

SMART Domains

Protein: ENSMUSP00000108008
Gene: ENSMUSG00000024242

Domain	Start	End	E-Value	Type
S_TKc	16	273	9.71e-95	SMART
low complexity region	299	304	N/A	INTRINSIC
low complexity region	413	421	N/A	INTRINSIC
low complexity region	428	440	N/A	INTRINSIC
low complexity region	467	491	N/A	INTRINSIC
CNH	561	876	1.39e-114	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (36/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased susceptibility to experimental autoimmune encephalomyelitis, decreased stimulated immunoglobin production, decreased stimulated T cell proliferation, and abnormal Th1, Th2, and Th17 differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	G	A	7: 101,390,165	W544*	probably null	Het
AY358078	A	G	14: 51,805,553	T233A	unknown	Het
Bcl9	G	A	3: 97,209,653	P575L	probably damaging	Het
Calcr	T	C	6: 3,693,735	Y353C	probably damaging	Het
Cry1	C	A	10: 85,146,499	A328S	probably benign	Het
Dclre1a	A	T	19: 56,541,507	N799K	probably damaging	Het
Dnm3	A	T	1: 162,321,127		probably null	Het
Dock9	A	T	14: 121,629,086		probably null	Het
Dpysl4	C	T	7: 139,100,935	T575M	probably damaging	Het
Drc7	C	T	8: 95,061,836	Q276*	probably null	Het
Dzip3	T	C	16: 48,950,013	T389A	possibly damaging	Het
Fam196a	A	G	7: 134,884,526	V432A	probably benign	Het
Flnc	T	A	6: 29,453,719	L1801Q	probably damaging	Het
Fmo9	A	G	1: 166,663,367	L463P	probably benign	Het
Fnip2	G	C	3: 79,462,157	H1074D	probably damaging	Het
Golga2	A	G	2: 32,305,611	E806G	probably benign	Het
H2-Q5	T	A	17: 35,394,139	M5K	unknown	Het
Il27ra	C	T	8: 84,040,688	E169K	probably benign	Het
Itpkc	A	T	7: 27,227,612	N292K	probably benign	Het
Lhfpl3	G	A	5: 22,775,987		probably benign	Het
Mas1	C	G	17: 12,841,993	S181T	probably benign	Het
Ntn1	C	G	11: 68,385,793	D110H	probably damaging	Het
Nubpl	T	C	12: 52,144,027	M65T	probably damaging	Het
Olfr813	A	C	10: 129,857,147	M210L	probably benign	Het
Parp14	A	G	16: 35,853,748	I1042T	possibly damaging	Het
Pcdh15	C	A	10: 74,631,686	S1779Y	probably damaging	Het
Pgm5	C	T	19: 24,820,203	R205Q	probably damaging	Het
Radil	T	C	5: 142,506,997	D292G	probably damaging	Het
Rbp3	C	A	14: 33,955,507	H471N	probably damaging	Het
Rgs14	T	A	13: 55,379,614	L221Q	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,464,091	T22M	probably benign	Het
Sult2b1	G	T	7: 45,730,037		probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Ttn	G	T	2: 76,751,334	L23072I	possibly damaging	Het
Zfp521	T	C	18: 13,717,751		probably benign	Het

Other mutations in Map4k3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Map4k3	APN	17	80636718	critical splice donor site	probably null
IGL01329:Map4k3	APN	17	80644184	missense	probably benign
IGL01626:Map4k3	APN	17	80605809	missense	probably damaging	0.97
IGL01896:Map4k3	APN	17	80613931	missense	probably benign	0.13
IGL02021:Map4k3	APN	17	80609826	missense	probably damaging	1.00
IGL02585:Map4k3	APN	17	80653919	splice site	probably benign
IGL03101:Map4k3	APN	17	80655855	critical splice donor site	probably null
IGL03231:Map4k3	APN	17	80597675	missense	probably damaging	1.00
IGL03267:Map4k3	APN	17	80664028	missense	probably damaging	1.00
maple_forest	UTSW	17	80603998	missense	probably benign	0.38
R0084:Map4k3	UTSW	17	80655914	missense	possibly damaging	0.91
R0211:Map4k3	UTSW	17	80644841	missense	probably damaging	1.00
R0211:Map4k3	UTSW	17	80644841	missense	probably damaging	1.00
R0612:Map4k3	UTSW	17	80602193	missense	probably damaging	1.00
R0842:Map4k3	UTSW	17	80605983	missense	probably benign	0.35
R2009:Map4k3	UTSW	17	80664088	splice site	probably benign
R2224:Map4k3	UTSW	17	80630454	missense	probably benign	0.00
R4049:Map4k3	UTSW	17	80605965	missense	probably benign	0.10
R4151:Map4k3	UTSW	17	80644534	missense	probably damaging	1.00
R4345:Map4k3	UTSW	17	80597551	critical splice donor site	probably null
R4405:Map4k3	UTSW	17	80615015	critical splice donor site	probably null
R4450:Map4k3	UTSW	17	80603982	critical splice donor site	probably null
R4970:Map4k3	UTSW	17	80653903	missense	probably benign	0.00
R5230:Map4k3	UTSW	17	80615170	missense	probably benign	0.00
R5459:Map4k3	UTSW	17	80609787	missense	probably damaging	1.00
R5568:Map4k3	UTSW	17	80663998	missense	possibly damaging	0.96
R5635:Map4k3	UTSW	17	80613495	missense	possibly damaging	0.94
R5827:Map4k3	UTSW	17	80593283	critical splice donor site	probably null
R5927:Map4k3	UTSW	17	80613919	missense	probably benign	0.06
R5951:Map4k3	UTSW	17	80603998	missense	probably benign	0.38
R5964:Map4k3	UTSW	17	80644762	missense	probably damaging	1.00
R6849:Map4k3	UTSW	17	80630413	critical splice donor site	probably null
R6985:Map4k3	UTSW	17	80636732	missense	probably damaging	1.00
R7040:Map4k3	UTSW	17	80680915	missense	probably damaging	0.98
R7233:Map4k3	UTSW	17	80597648	missense	possibly damaging	0.80
R7511:Map4k3	UTSW	17	80597648	missense	possibly damaging	0.80
R7672:Map4k3	UTSW	17	80615071	missense	possibly damaging	0.58
R7680:Map4k3	UTSW	17	80581876	missense	probably benign	0.02
R7804:Map4k3	UTSW	17	80615070	missense	probably damaging	0.98
X0023:Map4k3	UTSW	17	80593091	missense	probably benign
Z1176:Map4k3	UTSW	17	80618337	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- AAAATCGTGGTATGTGGAATGGTC -3'
(R):5'- AGGTGTTAACTCTGTGCAAAACG -3'

Sequencing Primer
(F):5'- AATGGTCTGGATTATTCACTTTGTCC -3'
(R):5'- CTCTGTGCAAAACGTTTTATGTG -3'

Posted On

2015-04-06