Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02104:Map3k1'

279893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k1

Ensembl Gene

ENSMUSG00000021754

Gene Name

mitogen-activated protein kinase kinase kinase 1

Synonyms

Mekk, MEKK1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.933) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

111746428-111808993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111756243 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 826 (V826E)

Ref Sequence

ENSEMBL: ENSMUSP00000104890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109267]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109267
AA Change: V826E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: V826E

Domain	Start	End	E-Value	Type
low complexity region	2	46	N/A	INTRINSIC
low complexity region	85	101	N/A	INTRINSIC
low complexity region	112	122	N/A	INTRINSIC
low complexity region	138	158	N/A	INTRINSIC
low complexity region	235	256	N/A	INTRINSIC
Pfam:SWIM	333	361	3.1e-7	PFAM
low complexity region	417	426	N/A	INTRINSIC
RING	438	486	2.69e-1	SMART
low complexity region	512	527	N/A	INTRINSIC
low complexity region	596	625	N/A	INTRINSIC
low complexity region	750	762	N/A	INTRINSIC
low complexity region	967	978	N/A	INTRINSIC
low complexity region	1073	1084	N/A	INTRINSIC
low complexity region	1160	1178	N/A	INTRINSIC
S_TKc	1224	1489	9.58e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175936

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a spontaneous allele are born with one or both eyes open, defects in eye morphology, and defects in ear morphology and function. Mice homozygous for a knock-out allele are born with open eyes and exhibit increased response to aortic banding and blood vessel healing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Abcb5	T	A	12: 118,940,680	Q125L	probably damaging	Het
Acap3	G	A	4: 155,905,085	R662H	probably damaging	Het
Aox4	T	A	1: 58,236,657		probably benign	Het
Aqp6	T	C	15: 99,604,278	S285P	probably benign	Het
Arhgef5	A	T	6: 43,272,411	Q32L	probably damaging	Het
B3gnt6	G	T	7: 98,194,101	D217E	probably damaging	Het
Chd6	T	C	2: 160,977,512	I1338V	probably benign	Het
Clic6	A	G	16: 92,498,479	E9G	possibly damaging	Het
Col11a1	T	A	3: 114,181,397		probably null	Het
Dcdc2b	T	A	4: 129,611,074	D88V	probably benign	Het
Dis3l	T	A	9: 64,310,329	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,404,015	Y1008*	probably null	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Efl1	A	G	7: 82,658,055		probably null	Het
Fam117b	C	T	1: 59,949,119	T219I	probably benign	Het
Fgf21	T	A	7: 45,615,224	Q28L	probably benign	Het
Folh1	T	C	7: 86,744,430	Q391R	possibly damaging	Het
Gars	A	G	6: 55,077,697	D663G	probably damaging	Het
Lats2	A	G	14: 57,734,012	F69L	probably damaging	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Mapkap1	T	A	2: 34,623,470	Y497*	probably null	Het
Mast3	T	C	8: 70,787,906	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,901,615	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,674,579	L353S	probably benign	Het
Muc5ac	T	C	7: 141,811,078	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,815,435	T9A	probably benign	Het
Olfr1031	G	T	2: 85,992,386	D190Y	probably damaging	Het
Olfr1440	T	A	19: 12,394,899	V212D	probably damaging	Het
Olfr1484	T	A	19: 13,585,604	M57K	probably damaging	Het
Olfr418	T	C	1: 173,271,036	V287A	probably damaging	Het
Olfr543	C	A	7: 102,477,337	V178F	probably damaging	Het
Olfr761	A	C	17: 37,952,291	H244Q	probably damaging	Het
Olfr843	A	T	9: 19,248,870	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,774,883	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,342,097	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,222,408	V508E	probably benign	Het
Pom121l2	C	A	13: 21,982,275	H239N	possibly damaging	Het
Prdm2	A	G	4: 143,133,427	S1098P	probably benign	Het
Rnf212	A	G	5: 108,747,440	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517		probably null	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Scd4	G	T	19: 44,344,747	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,426,764		probably benign	Het
Shroom3	A	G	5: 92,940,389	R158G	probably benign	Het
Stil	T	C	4: 115,041,482	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,780,133		probably benign	Het
Tmc1	C	T	19: 20,832,454	D255N	probably benign	Het
Trank1	C	A	9: 111,390,712	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,813,200	R718H	probably damaging	Het
Vamp2	C	A	11: 69,090,657	F114L	probably benign	Het
Wdr66	T	A	5: 123,302,698	L1106*	probably null	Het

Other mutations in Map3k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01594:Map3k1	APN	13	111758189	critical splice acceptor site	probably null
IGL01686:Map3k1	APN	13	111754662	missense	possibly damaging	0.51
IGL03071:Map3k1	APN	13	111755525	missense	possibly damaging	0.77
IGL03087:Map3k1	APN	13	111749025	missense	probably benign	0.01
IGL03213:Map3k1	APN	13	111748892	utr 3 prime	probably benign
Nepal	UTSW	13	111752449	missense	probably benign	0.07
Snow_leopard	UTSW	13	111755764	nonsense	probably null
R0005:Map3k1	UTSW	13	111755704	missense	probably benign	0.00
R0025:Map3k1	UTSW	13	111756129	missense	probably benign
R0506:Map3k1	UTSW	13	111755764	nonsense	probably null
R0540:Map3k1	UTSW	13	111763510	missense	probably benign	0.05
R0607:Map3k1	UTSW	13	111763510	missense	probably benign	0.05
R0898:Map3k1	UTSW	13	111767956	unclassified	probably benign
R1171:Map3k1	UTSW	13	111755643	missense	probably benign	0.29
R1464:Map3k1	UTSW	13	111755871	missense	possibly damaging	0.67
R1464:Map3k1	UTSW	13	111755871	missense	possibly damaging	0.67
R1682:Map3k1	UTSW	13	111757150	missense	probably damaging	1.00
R1718:Map3k1	UTSW	13	111755419	missense	probably benign	0.23
R1893:Map3k1	UTSW	13	111768033	missense	possibly damaging	0.91
R2174:Map3k1	UTSW	13	111752482	missense	possibly damaging	0.75
R2215:Map3k1	UTSW	13	111755788	missense	probably benign	0.00
R2239:Map3k1	UTSW	13	111748944	missense	probably benign	0.00
R3686:Map3k1	UTSW	13	111753891	missense	probably damaging	0.99
R3783:Map3k1	UTSW	13	111756220	missense	probably benign	0.00
R4094:Map3k1	UTSW	13	111756162	missense	possibly damaging	0.48
R4231:Map3k1	UTSW	13	111768494	missense	probably benign	0.01
R4902:Map3k1	UTSW	13	111772612	missense	probably damaging	0.99
R4967:Map3k1	UTSW	13	111772738	missense	probably damaging	0.96
R5465:Map3k1	UTSW	13	111756120	missense	probably benign	0.20
R5855:Map3k1	UTSW	13	111755979	missense	probably benign	0.37
R6384:Map3k1	UTSW	13	111750530	missense	probably damaging	1.00
R6389:Map3k1	UTSW	13	111769441	missense	probably damaging	1.00
R6400:Map3k1	UTSW	13	111755725	missense	probably damaging	0.99
R6509:Map3k1	UTSW	13	111753829	missense	possibly damaging	0.48
R6644:Map3k1	UTSW	13	111752449	missense	probably benign	0.07
R6900:Map3k1	UTSW	13	111753816	missense	probably benign	0.01
R6943:Map3k1	UTSW	13	111772712	missense	probably benign	0.30
R6946:Map3k1	UTSW	13	111768501	nonsense	probably null
R7059:Map3k1	UTSW	13	111772778	missense	probably benign
R7271:Map3k1	UTSW	13	111756697	missense	probably benign	0.32
R7290:Map3k1	UTSW	13	111768111	missense	probably damaging	1.00
R7397:Map3k1	UTSW	13	111755208	missense	probably damaging	0.98
R7457:Map3k1	UTSW	13	111756255	missense	probably damaging	0.99
R7827:Map3k1	UTSW	13	111756129	missense	probably benign
R7990:Map3k1	UTSW	13	111756162	missense	probably benign	0.28
R8110:Map3k1	UTSW	13	111755313	missense	probably damaging	0.98
R8119:Map3k1	UTSW	13	111772622	missense	possibly damaging	0.89
R8179:Map3k1	UTSW	13	111749047	missense	probably damaging	1.00
R8317:Map3k1	UTSW	13	111758162	missense	probably damaging	1.00
R8397:Map3k1	UTSW	13	111755604	missense	probably damaging	0.99
R8745:Map3k1	UTSW	13	111756772	missense	probably damaging	1.00
R8829:Map3k1	UTSW	13	111752481	missense	possibly damaging	0.88
R8832:Map3k1	UTSW	13	111752481	missense	possibly damaging	0.88
R8939:Map3k1	UTSW	13	111756303	nonsense	probably null
X0065:Map3k1	UTSW	13	111757105	missense	probably damaging	1.00
Z1177:Map3k1	UTSW	13	111755946	missense	probably benign	0.00

Posted On

2015-04-16