Mutagenetix > Incidental Mutation

Incidental Mutation 'R1682:Map3k1'

189276

Institutional Source

Beutler Lab

Gene Symbol

Map3k1

Ensembl Gene

ENSMUSG00000021754

Gene Name

mitogen-activated protein kinase kinase kinase 1

Synonyms

MEKK1, Mekk

MMRRC Submission

039718-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R1682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111882962-111945527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111893684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 704 (E704V)

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: E704V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: E704V

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,283,043 (GRCm39)	D2203G	probably benign	Het
Acin1	A	G	14: 54,901,175 (GRCm39)	S629P	probably damaging	Het
Agbl2	T	A	2: 90,614,434 (GRCm39)	I22N	probably benign	Het
Ank1	A	G	8: 23,599,343 (GRCm39)	E796G	probably damaging	Het
Ankrd13d	A	G	19: 4,332,961 (GRCm39)	L13P	probably damaging	Het
Ankrd36	T	C	11: 5,557,143 (GRCm39)	S364P	possibly damaging	Het
Ap2a1	T	C	7: 44,565,362 (GRCm39)	T126A	probably benign	Het
Apob	A	G	12: 8,062,365 (GRCm39)	I3616V	probably benign	Het
Arl5a	A	T	2: 52,306,214 (GRCm39)	N39K	probably benign	Het
Baiap2	G	A	11: 119,888,366 (GRCm39)	R334H	probably damaging	Het
Bbox1	T	A	2: 110,122,893 (GRCm39)	N132I	possibly damaging	Het
Bcl11b	A	G	12: 107,882,908 (GRCm39)	L469P	probably damaging	Het
Brca1	A	G	11: 101,416,391 (GRCm39)	I581T	probably damaging	Het
Cacng2	T	C	15: 78,002,997 (GRCm39)	Y32C	probably damaging	Het
Capn9	G	T	8: 125,338,304 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,400,671 (GRCm39)	T290A	probably benign	Het
Cdk5rap2	C	T	4: 70,220,387 (GRCm39)	V593I	possibly damaging	Het
Cep128	G	C	12: 91,197,596 (GRCm39)	D91E	probably damaging	Het
Cep295	T	C	9: 15,245,217 (GRCm39)	M1080V	probably benign	Het
Coq8b	T	A	7: 26,939,549 (GRCm39)	M193K	probably benign	Het
Csn1s2b	A	G	5: 87,970,162 (GRCm39)	Y131C	probably damaging	Het
D130043K22Rik	T	C	13: 25,066,539 (GRCm39)	S779P	probably damaging	Het
Dgat1	C	T	15: 76,387,219 (GRCm39)	C356Y	probably benign	Het
Dipk1c	A	T	18: 84,754,988 (GRCm39)	I155F	possibly damaging	Het
Dnah12	A	T	14: 26,500,840 (GRCm39)	T1543S	possibly damaging	Het
Dock3	T	C	9: 106,851,040 (GRCm39)	S821G	probably damaging	Het
Dock4	G	A	12: 40,775,779 (GRCm39)	C574Y	probably damaging	Het
Dr1	T	C	5: 108,417,604 (GRCm39)	I50T	probably damaging	Het
Dzip3	A	T	16: 48,778,780 (GRCm39)		probably null	Het
Eln	C	A	5: 134,732,636 (GRCm39)	*861L	probably null	Het
Eml6	T	A	11: 29,709,065 (GRCm39)	H24L	probably benign	Het
Eps8l3	A	C	3: 107,798,622 (GRCm39)	T503P	possibly damaging	Het
Fgf1	C	A	18: 38,974,985 (GRCm39)	D155Y	possibly damaging	Het
Fkbp15	A	T	4: 62,242,431 (GRCm39)	M507K	probably damaging	Het
Flnb	A	T	14: 7,913,121 (GRCm38)	R1463S	probably benign	Het
Fras1	C	T	5: 96,793,732 (GRCm39)	T1018I	probably benign	Het
Gm10803	T	A	2: 93,394,533 (GRCm39)	C102S	probably damaging	Het
Gpatch1	C	A	7: 35,002,812 (GRCm39)	V233L	possibly damaging	Het
Gramd1a	T	C	7: 30,842,325 (GRCm39)		probably null	Het
Gsk3a	T	C	7: 24,935,133 (GRCm39)	T106A	possibly damaging	Het
Hap1	A	G	11: 100,240,302 (GRCm39)	V136A	possibly damaging	Het
Helq	A	T	5: 100,940,679 (GRCm39)	S307T	probably benign	Het
Herc2	T	A	7: 55,738,148 (GRCm39)	S264T	possibly damaging	Het
Htr4	A	G	18: 62,561,137 (GRCm39)	M133V	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jakmip2	A	G	18: 43,714,896 (GRCm39)		probably null	Het
Ldhd	T	A	8: 112,354,745 (GRCm39)	S358C	possibly damaging	Het
Lrp1	A	T	10: 127,410,201 (GRCm39)	V1515E	probably damaging	Het
Ltbp3	A	G	19: 5,801,782 (GRCm39)	D700G	probably benign	Het
Magel2	T	G	7: 62,029,983 (GRCm39)	S962R	unknown	Het
Map2	A	C	1: 66,454,781 (GRCm39)		probably null	Het
Mrpl39	A	T	16: 84,527,347 (GRCm39)	V180D	probably damaging	Het
Myef2	T	C	2: 124,939,978 (GRCm39)	M383V	probably damaging	Het
Myh3	A	G	11: 66,979,891 (GRCm39)	Y610C	probably damaging	Het
Or10ak7	A	G	4: 118,791,778 (GRCm39)	L89P	probably damaging	Het
Or51h1	T	C	7: 102,308,904 (GRCm39)	V292A	probably damaging	Het
Or8g54	T	A	9: 39,706,954 (GRCm39)	Y94*	probably null	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pabpc1	T	A	15: 36,605,785 (GRCm39)	N135I	possibly damaging	Het
Pcsk6	T	A	7: 65,559,976 (GRCm39)	H100Q	probably damaging	Het
Pdss1	A	G	2: 22,805,531 (GRCm39)	K270E	probably damaging	Het
Pigx	A	T	16: 31,906,268 (GRCm39)	S18T	possibly damaging	Het
Plbd2	T	A	5: 120,623,849 (GRCm39)	T558S	probably damaging	Het
Plppr1	A	T	4: 49,325,617 (GRCm39)		probably null	Het
Plppr2	T	A	9: 21,855,717 (GRCm39)	V230E	possibly damaging	Het
Pola2	A	G	19: 6,003,091 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 101,089,505 (GRCm39)	S273P	probably benign	Het
Prkdc	A	G	16: 15,494,853 (GRCm39)	E741G	probably benign	Het
Prom2	C	A	2: 127,382,082 (GRCm39)	V111L	possibly damaging	Het
Rapgef4	A	G	2: 72,056,912 (GRCm39)	D557G	possibly damaging	Het
Rgs10	T	C	7: 127,975,694 (GRCm39)	T158A	probably benign	Het
Rnf123	A	C	9: 107,954,597 (GRCm39)	Y40D	probably benign	Het
Rnf14	A	G	18: 38,441,242 (GRCm39)	T211A	probably benign	Het
Rp1l1	T	A	14: 64,266,417 (GRCm39)	S668T	probably damaging	Het
Sema6d	T	A	2: 124,507,069 (GRCm39)	L946Q	probably benign	Het
Sgcd	T	G	11: 47,085,869 (GRCm39)	K94Q	probably benign	Het
Skor2	A	T	18: 76,947,211 (GRCm39)	D311V	unknown	Het
Slc34a1	A	T	13: 23,996,623 (GRCm39)	I43F	probably damaging	Het
Spdye4c	C	A	2: 128,434,542 (GRCm39)	P40T	probably damaging	Het
Srp72	C	A	5: 77,135,717 (GRCm39)	Q216K	possibly damaging	Het
Tmem62	C	T	2: 120,837,538 (GRCm39)	T485I	probably benign	Het
Tmem94	G	T	11: 115,681,056 (GRCm39)	V432L	probably damaging	Het
Trio	T	C	15: 27,744,232 (GRCm39)		probably null	Het
Uggt2	A	T	14: 119,292,055 (GRCm39)	D581E	probably benign	Het
Unc5d	T	A	8: 29,249,109 (GRCm39)	S319C	probably damaging	Het
Vmn1r211	T	C	13: 23,035,813 (GRCm39)	I285V	probably damaging	Het
Vmn2r68	A	G	7: 84,882,574 (GRCm39)	Y393H	possibly damaging	Het
Vmn2r99	A	C	17: 19,598,207 (GRCm39)	N77T	probably damaging	Het

Other mutations in Map3k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01594:Map3k1	APN	13	111,894,723 (GRCm39)	critical splice acceptor site	probably null
IGL01686:Map3k1	APN	13	111,891,196 (GRCm39)	missense	possibly damaging	0.51
IGL02104:Map3k1	APN	13	111,892,777 (GRCm39)	missense	probably damaging	0.99
IGL03071:Map3k1	APN	13	111,892,059 (GRCm39)	missense	possibly damaging	0.77
IGL03087:Map3k1	APN	13	111,885,559 (GRCm39)	missense	probably benign	0.01
IGL03213:Map3k1	APN	13	111,885,426 (GRCm39)	utr 3 prime	probably benign
Nepal	UTSW	13	111,888,983 (GRCm39)	missense	probably benign	0.07
Snow_leopard	UTSW	13	111,892,298 (GRCm39)	nonsense	probably null
R0005:Map3k1	UTSW	13	111,892,238 (GRCm39)	missense	probably benign	0.00
R0025:Map3k1	UTSW	13	111,892,663 (GRCm39)	missense	probably benign
R0506:Map3k1	UTSW	13	111,892,298 (GRCm39)	nonsense	probably null
R0540:Map3k1	UTSW	13	111,900,044 (GRCm39)	missense	probably benign	0.05
R0607:Map3k1	UTSW	13	111,900,044 (GRCm39)	missense	probably benign	0.05
R0898:Map3k1	UTSW	13	111,904,490 (GRCm39)	unclassified	probably benign
R1171:Map3k1	UTSW	13	111,892,177 (GRCm39)	missense	probably benign	0.29
R1464:Map3k1	UTSW	13	111,892,405 (GRCm39)	missense	possibly damaging	0.67
R1464:Map3k1	UTSW	13	111,892,405 (GRCm39)	missense	possibly damaging	0.67
R1718:Map3k1	UTSW	13	111,891,953 (GRCm39)	missense	probably benign	0.23
R1893:Map3k1	UTSW	13	111,904,567 (GRCm39)	missense	possibly damaging	0.91
R2174:Map3k1	UTSW	13	111,889,016 (GRCm39)	missense	possibly damaging	0.75
R2215:Map3k1	UTSW	13	111,892,322 (GRCm39)	missense	probably benign	0.00
R2239:Map3k1	UTSW	13	111,885,478 (GRCm39)	missense	probably benign	0.00
R3686:Map3k1	UTSW	13	111,890,425 (GRCm39)	missense	probably damaging	0.99
R3783:Map3k1	UTSW	13	111,892,754 (GRCm39)	missense	probably benign	0.00
R4094:Map3k1	UTSW	13	111,892,696 (GRCm39)	missense	possibly damaging	0.48
R4231:Map3k1	UTSW	13	111,905,028 (GRCm39)	missense	probably benign	0.01
R4902:Map3k1	UTSW	13	111,909,146 (GRCm39)	missense	probably damaging	0.99
R4967:Map3k1	UTSW	13	111,909,272 (GRCm39)	missense	probably damaging	0.96
R5465:Map3k1	UTSW	13	111,892,654 (GRCm39)	missense	probably benign	0.20
R5855:Map3k1	UTSW	13	111,892,513 (GRCm39)	missense	probably benign	0.37
R6384:Map3k1	UTSW	13	111,887,064 (GRCm39)	missense	probably damaging	1.00
R6389:Map3k1	UTSW	13	111,905,975 (GRCm39)	missense	probably damaging	1.00
R6400:Map3k1	UTSW	13	111,892,259 (GRCm39)	missense	probably damaging	0.99
R6509:Map3k1	UTSW	13	111,890,363 (GRCm39)	missense	possibly damaging	0.48
R6644:Map3k1	UTSW	13	111,888,983 (GRCm39)	missense	probably benign	0.07
R6900:Map3k1	UTSW	13	111,890,350 (GRCm39)	missense	probably benign	0.01
R6943:Map3k1	UTSW	13	111,909,246 (GRCm39)	missense	probably benign	0.30
R6946:Map3k1	UTSW	13	111,905,035 (GRCm39)	nonsense	probably null
R7059:Map3k1	UTSW	13	111,909,312 (GRCm39)	missense	probably benign
R7271:Map3k1	UTSW	13	111,893,231 (GRCm39)	missense	probably benign	0.32
R7290:Map3k1	UTSW	13	111,904,645 (GRCm39)	missense	probably damaging	1.00
R7397:Map3k1	UTSW	13	111,891,742 (GRCm39)	missense	probably damaging	0.98
R7457:Map3k1	UTSW	13	111,892,789 (GRCm39)	missense	probably damaging	0.99
R7827:Map3k1	UTSW	13	111,892,663 (GRCm39)	missense	probably benign
R7990:Map3k1	UTSW	13	111,892,696 (GRCm39)	missense	probably benign	0.28
R8110:Map3k1	UTSW	13	111,891,847 (GRCm39)	missense	probably damaging	0.98
R8119:Map3k1	UTSW	13	111,909,156 (GRCm39)	missense	possibly damaging	0.89
R8179:Map3k1	UTSW	13	111,885,581 (GRCm39)	missense	probably damaging	1.00
R8317:Map3k1	UTSW	13	111,894,696 (GRCm39)	missense	probably damaging	1.00
R8397:Map3k1	UTSW	13	111,892,138 (GRCm39)	missense	probably damaging	0.99
R8745:Map3k1	UTSW	13	111,893,306 (GRCm39)	missense	probably damaging	1.00
R8829:Map3k1	UTSW	13	111,889,015 (GRCm39)	missense	possibly damaging	0.88
R8832:Map3k1	UTSW	13	111,889,015 (GRCm39)	missense	possibly damaging	0.88
R8939:Map3k1	UTSW	13	111,892,837 (GRCm39)	nonsense	probably null
R9640:Map3k1	UTSW	13	111,900,699 (GRCm39)	nonsense	probably null
R9649:Map3k1	UTSW	13	111,885,478 (GRCm39)	missense	probably damaging	0.97
R9653:Map3k1	UTSW	13	111,890,296 (GRCm39)	missense	possibly damaging	0.94
R9763:Map3k1	UTSW	13	111,912,499 (GRCm39)	missense	probably damaging	1.00
R9768:Map3k1	UTSW	13	111,904,630 (GRCm39)	missense	probably benign	0.04
X0065:Map3k1	UTSW	13	111,893,639 (GRCm39)	missense	probably damaging	1.00
Z1177:Map3k1	UTSW	13	111,892,480 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTAACGGGAAGGCTCATGTAAACC -3'
(R):5'- GCGTGTCTTACATAGCCCATTTTCTGG -3'

Sequencing Primer
(F):5'- GCGGATTATATTAGTCTCAGGACTTC -3'
(R):5'- CTGGAACTCTGGGTTGCTTACC -3'

Posted On

2014-05-14