Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:Map3k1'

165357

Institutional Source

Beutler Lab

Gene Symbol

Map3k1

Ensembl Gene

ENSMUSG00000021754

Gene Name

mitogen-activated protein kinase kinase kinase 1

Synonyms

MEKK1, Mekk

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R1464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111882962-111945527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111892405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 950 (H950R)

Ref Sequence

ENSEMBL: ENSMUSP00000104890 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109267
AA Change: H950R

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: H950R

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

1x: 99.5%
3x: 98.0%
10x: 91.0%
20x: 72.6%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	A	G	12: 31,234,914 (GRCm39)		noncoding transcript	Het
Adamts8	T	A	9: 30,862,673 (GRCm39)	W86R	probably benign	Het
Adh1	A	G	3: 137,994,508 (GRCm39)		probably null	Het
Adipor2	A	T	6: 119,338,804 (GRCm39)	W150R	probably damaging	Het
Aff4	T	A	11: 53,263,351 (GRCm39)	S124T	probably damaging	Het
Ahnak	G	T	19: 8,982,260 (GRCm39)	K1181N	probably damaging	Het
Alkbh5	A	G	11: 60,429,873 (GRCm39)	I209V	probably benign	Het
Ankrd11	T	C	8: 123,619,463 (GRCm39)	E1442G	probably damaging	Het
Apba2	T	A	7: 64,345,297 (GRCm39)	D162E	probably benign	Het
Asic3	G	A	5: 24,618,819 (GRCm39)	G37E	probably damaging	Het
AU040320	A	T	4: 126,685,824 (GRCm39)	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,766,481 (GRCm39)	S34G	probably benign	Het
Ccdc148	T	A	2: 58,796,374 (GRCm39)	R463*	probably null	Het
Ccdc148	T	C	2: 58,824,455 (GRCm39)	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,576,263 (GRCm39)	I142T	probably benign	Het
Chrna10	G	A	7: 101,763,454 (GRCm39)	P114S	probably damaging	Het
Chst10	A	G	1: 38,904,772 (GRCm39)	I311T	probably damaging	Het
Cpne9	T	C	6: 113,271,698 (GRCm39)	Y353H	probably damaging	Het
Cubn	G	T	2: 13,330,099 (GRCm39)	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,903,827 (GRCm39)	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,671,478 (GRCm39)	T117A	probably damaging	Het
Ddah1	A	T	3: 145,559,029 (GRCm39)	K96*	probably null	Het
Ddx5	A	C	11: 106,675,711 (GRCm39)	D326E	probably benign	Het
Dlg2	T	C	7: 91,617,406 (GRCm39)	S323P	probably damaging	Het
Dnaaf1	C	T	8: 120,306,049 (GRCm39)	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,914,147 (GRCm39)	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,091,366 (GRCm39)	T642A	probably benign	Het
Dnajc18	A	G	18: 35,813,900 (GRCm39)	S290P	possibly damaging	Het
Dscam	T	A	16: 96,602,453 (GRCm39)	H663L	possibly damaging	Het
Emc1	A	G	4: 139,098,248 (GRCm39)	N740S	probably damaging	Het
Enpp2	C	T	15: 54,727,208 (GRCm39)	G541D	probably damaging	Het
Fam234b	C	T	6: 135,205,490 (GRCm39)	T485I	probably benign	Het
Fbxl13	A	T	5: 21,688,989 (GRCm39)	I773K	probably benign	Het
Fmo4	A	G	1: 162,621,924 (GRCm39)	F429S	possibly damaging	Het
Frem1	T	C	4: 82,930,116 (GRCm39)	S277G	probably damaging	Het
Gaa	A	G	11: 119,163,810 (GRCm39)	I221V	probably benign	Het
Helz2	T	C	2: 180,881,447 (GRCm39)	E345G	probably damaging	Het
Ifna4	G	T	4: 88,760,237 (GRCm39)	R47I	probably damaging	Het
Igsf21	C	A	4: 139,761,836 (GRCm39)	A281S	probably benign	Het
Ikzf3	T	A	11: 98,407,731 (GRCm39)	I37L	probably benign	Het
Jag1	T	C	2: 136,957,568 (GRCm39)	E48G	probably damaging	Het
Jarid2	G	T	13: 45,001,857 (GRCm39)	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,369,605 (GRCm39)	L125P	probably damaging	Het
Kif21b	A	G	1: 136,083,891 (GRCm39)	K713E	possibly damaging	Het
Layn	T	A	9: 50,968,886 (GRCm39)	S286C	probably damaging	Het
Lepr	T	A	4: 101,592,878 (GRCm39)	D164E	probably benign	Het
Macroh2a1	A	T	13: 56,230,949 (GRCm39)	S310T	probably damaging	Het
Map4k5	C	A	12: 69,852,124 (GRCm39)	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 119,851,742 (GRCm39)	S895T	probably benign	Het
Naca	T	A	10: 127,884,157 (GRCm39)	M2157K	probably damaging	Het
Nav2	T	C	7: 49,011,952 (GRCm39)	I61T	probably damaging	Het
Nkx2-5	C	A	17: 27,058,253 (GRCm39)	A234S	probably benign	Het
Nol8	G	A	13: 49,830,264 (GRCm39)	S1116N	probably benign	Het
Nppa	T	C	4: 148,085,304 (GRCm39)	S5P	probably benign	Het
Nup210	A	G	6: 91,030,551 (GRCm39)	V123A	possibly damaging	Het
Or13a21	G	T	7: 139,999,286 (GRCm39)	N133K	probably benign	Het
Osbpl11	A	G	16: 33,049,455 (GRCm39)	K604R	probably damaging	Het
Osbpl1a	C	T	18: 13,047,615 (GRCm39)	S113N	probably benign	Het
P2rx4	C	A	5: 122,852,602 (GRCm39)	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,692,136 (GRCm39)	Q148L	probably benign	Het
Phf21b	T	A	15: 84,689,160 (GRCm39)	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,515,990 (GRCm39)	F977I	probably damaging	Het
Potefam1	A	G	2: 111,055,748 (GRCm39)		probably null	Het
Pp2d1	T	G	17: 53,823,015 (GRCm39)	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,843,527 (GRCm39)	E415G	probably damaging	Het
Pramel19	T	A	4: 101,798,503 (GRCm39)	L158Q	probably damaging	Het
Prkg1	A	G	19: 30,556,270 (GRCm39)	S559P	probably damaging	Het
Prss45	A	T	9: 110,670,019 (GRCm39)	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,883,517 (GRCm39)	N849K	probably damaging	Het
Rnf121	A	G	7: 101,680,782 (GRCm39)	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,699,368 (GRCm39)	N502S	probably damaging	Het
Sap25	T	A	5: 137,640,622 (GRCm39)	Y167*	probably null	Het
Sdk2	G	A	11: 113,720,906 (GRCm39)	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,792,896 (GRCm39)	V302A	probably benign	Het
Skor1	T	A	9: 63,047,393 (GRCm39)	M865L	possibly damaging	Het
Slc35g1	C	A	19: 38,391,665 (GRCm39)	L316I	probably benign	Het
Slco1a8	C	T	6: 141,938,243 (GRCm39)	W225*	probably null	Het
Spint4	T	A	2: 164,540,568 (GRCm39)	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,389,154 (GRCm39)	D178V	probably benign	Het
Tbc1d2	T	A	4: 46,606,491 (GRCm39)	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,400,197 (GRCm39)		probably null	Het
Teddm2	C	T	1: 153,726,277 (GRCm39)	W146*	probably null	Het
Ttn	T	A	2: 76,589,338 (GRCm39)	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274 (GRCm39)	T102A	probably damaging	Het
Uxs1	G	A	1: 43,804,076 (GRCm39)	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,204,681 (GRCm39)	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,463,348 (GRCm39)	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,242,217 (GRCm39)	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,200,914 (GRCm39)	L137F	probably benign	Het
Vps13b	C	T	15: 35,709,630 (GRCm39)	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,415,019 (GRCm39)	H347R	probably benign	Het
Wnk2	G	A	13: 49,235,451 (GRCm39)	P655S	probably damaging	Het
Zan	T	G	5: 137,418,191 (GRCm39)	D2969A	unknown	Het
Zbtb24	A	G	10: 41,331,075 (GRCm39)	H334R	probably damaging	Het
Zfp108	A	G	7: 23,959,973 (GRCm39)	D188G	probably benign	Het
Zfp784	A	T	7: 5,038,800 (GRCm39)	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,458 (GRCm39)	C336W	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
R1682:Map3k1	UTSW	13	111,893,684 (GRCm39)	missense	probably damaging	1.00
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'- AACTTGCGCTGTGTCTGAGGAG -3'
(R):5'- TGGATGGGCATCAGGACAGCTTAC -3'

Sequencing Primer
(F):5'- TGTCTGAGGAGATGCGGAAG -3'
(R):5'- TGTCTAGAAAACAGCTCCCTTG -3'

Posted On

2014-03-28