Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:Map3k1'

573921

Institutional Source

Beutler Lab

Gene Symbol

Map3k1

Ensembl Gene

ENSMUSG00000021754

Gene Name

mitogen-activated protein kinase kinase kinase 1

Synonyms

MEKK1, Mekk

MMRRC Submission

045479-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R7397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111882962-111945527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111891742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1171 (A1171V)

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: A1171V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: A1171V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
C4b	A	T	17: 34,961,364 (GRCm39)	D198E	possibly damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Kif20a	A	G	18: 34,760,729 (GRCm39)	T166A	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r1	T	G	17: 66,144,786 (GRCm39)	I801S	probably benign	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rap1gap2	T	C	11: 74,305,237 (GRCm39)	T323A	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rbm6	A	G	9: 107,729,718 (GRCm39)	M310T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Scyl3	T	C	1: 163,778,487 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Vsig10l	A	C	7: 43,117,431 (GRCm39)	T573P	probably damaging	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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'- ACTGCAGAGACTCAAAATCATTGC -3'
(R):5'- AGCTCAACTCCAGCATCGAG -3'

Sequencing Primer
(F):5'- ATCATTGCCACATACTTATGCAG -3'
(R):5'- ATCGAGGACCTTCTTGAAGC -3'

Posted On

2019-09-13