Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01368:Map3k3'

76014

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k3

Ensembl Gene

ENSMUSG00000020700

Gene Name

mitogen-activated protein kinase kinase kinase 3

Synonyms

MAPKKK3, Mekk3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01368

Quality Score

Status

Chromosome

Chromosomal Location

106084613-106155446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106150389 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 395 (F395L)

Ref Sequence

ENSEMBL: ENSMUSP00000002044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002044]

Predicted Effect

probably benign
Transcript: ENSMUST00000002044
AA Change: F395L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000002044
Gene: ENSMUSG00000020700
AA Change: F395L

Domain	Start	End	E-Value	Type
PB1	44	123	1.04e-18	SMART
S_TKc	362	622	4.23e-95	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129793

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 product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. vascular remodeling does not take place normally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,051,334	D93E	probably damaging	Het
Adam22	T	C	5: 8,127,411	Y566C	probably damaging	Het
Atp8b3	G	A	10: 80,534,229		probably benign	Het
Babam1	T	A	8: 71,398,406	D104E	probably damaging	Het
Bcl2a1a	T	A	9: 88,957,447	W133R	probably damaging	Het
Ckm	C	T	7: 19,416,787	Q184*	probably null	Het
Clk4	T	A	11: 51,281,172	Y246*	probably null	Het
Cyp3a57	T	C	5: 145,369,068	S121P	probably damaging	Het
Gm5039	C	T	12: 88,321,088	D132N	unknown	Het
Gm5771	A	G	6: 41,396,686	D161G	possibly damaging	Het
Gm8011	T	C	14: 42,465,874		probably benign	Het
Gpr153	T	C	4: 152,282,994	F434S	probably benign	Het
Gpr158	G	T	2: 21,827,098	W1003L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,736,390	E34G	probably damaging	Het
Igkv16-104	G	T	6: 68,425,610	R2S	possibly damaging	Het
Myof	T	A	19: 37,936,457	T1161S	probably damaging	Het
Nlrp9a	T	C	7: 26,557,874	S217P	probably damaging	Het
Nol9	T	A	4: 152,058,391	N687K	probably benign	Het
Olfr287	T	C	15: 98,207,500	I295V	probably damaging	Het
Olfr697	T	C	7: 106,741,622	E104G	probably benign	Het
Olfr748	T	C	14: 50,710,993	V221A	possibly damaging	Het
Olfr952	A	T	9: 39,426,180	V297D	probably damaging	Het
Rrh	T	C	3: 129,808,969	D229G	probably benign	Het
Sclt1	T	C	3: 41,711,175	T153A	probably damaging	Het
Slc41a1	G	A	1: 131,839,124	V127I	probably damaging	Het
Smarca2	C	T	19: 26,774,294	S214L	possibly damaging	Het
Tmem63a	T	C	1: 180,970,232	V616A	possibly damaging	Het
Ubr1	A	G	2: 120,941,131		probably benign	Het
Vmn1r228	A	G	17: 20,776,512	L248P	probably benign	Het
Zdhhc16	T	A	19: 41,941,506		probably null	Het

Other mutations in Map3k3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03028:Map3k3	APN	11	106110751	missense	probably damaging	1.00
BB003:Map3k3	UTSW	11	106145722	missense	probably damaging	1.00
BB013:Map3k3	UTSW	11	106145722	missense	probably damaging	1.00
R0421:Map3k3	UTSW	11	106148915	splice site	probably benign
R0963:Map3k3	UTSW	11	106123792	missense	probably benign	0.01
R3547:Map3k3	UTSW	11	106142553	nonsense	probably null
R4523:Map3k3	UTSW	11	106148868	missense	probably damaging	0.99
R5627:Map3k3	UTSW	11	106148602	missense	probably benign	0.03
R5747:Map3k3	UTSW	11	106150410	missense	probably benign	0.03
R5925:Map3k3	UTSW	11	106149550	missense	probably benign	0.07
R6141:Map3k3	UTSW	11	106097048	missense	probably benign	0.27
R6394:Map3k3	UTSW	11	106148883	missense	probably benign
R6714:Map3k3	UTSW	11	106114222	missense	possibly damaging	0.52
R7926:Map3k3	UTSW	11	106145722	missense	probably damaging	1.00
Z1088:Map3k3	UTSW	11	106150353	missense	possibly damaging	0.91

Posted On

2013-10-07