Mutagenetix > Incidental Mutations

Incidental Mutation 'R4967:Map3k1'

384144

Institutional Source

Beutler Lab

Gene Symbol

Map3k1

Ensembl Gene

ENSMUSG00000021754

Gene Name

mitogen-activated protein kinase kinase kinase 1

Synonyms

Mekk, MEKK1

MMRRC Submission

042563-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R4967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111746428-111808993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111772738 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 226 (E226G)

Ref Sequence

ENSEMBL: ENSMUSP00000104890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109267] [ENSMUST00000145055]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109267
AA Change: E226G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: E226G

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: ENSMUST00000133364

Predicted Effect

probably benign
Transcript: ENSMUST00000145055
AA Change: E68G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117863
Gene: ENSMUSG00000021754
AA Change: E68G

Domain	Start	End	E-Value	Type
low complexity region	77	98	N/A	INTRINSIC
Pfam:SWIM	175	203	2.2e-8	PFAM
low complexity region	259	264	N/A	INTRINSIC

Meta Mutation Damage Score

0.106

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (102/102)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,909,728	Y199*	probably null	Het
Adhfe1	A	T	1: 9,566,804	I394F	probably benign	Het
Arhgap26	G	T	18: 39,246,840	R485L	probably damaging	Het
Atat1	T	A	17: 35,901,575	N231I	probably damaging	Het
B4galnt2	T	C	11: 95,869,274	N309S	probably benign	Het
Bank1	A	T	3: 136,066,373	F499I	probably damaging	Het
Bcl9l	A	G	9: 44,505,068	D146G	possibly damaging	Het
Bglap3	A	T	3: 88,376,364		probably benign	Het
Bscl2	C	A	19: 8,847,980	T376K	probably benign	Het
C87499	T	C	4: 88,629,195	T80A	probably damaging	Het
Cercam	A	T	2: 29,871,021		probably null	Het
Clec4f	C	T	6: 83,656,030	M1I	probably null	Het
Clec4n	A	T	6: 123,232,107	I14F	probably benign	Het
Cmya5	T	C	13: 93,090,585	E2665G	probably damaging	Het
Cog4	T	A	8: 110,852,283		probably null	Het
Cubn	A	G	2: 13,348,045	F1961L	probably benign	Het
Cyp4a29	A	T	4: 115,246,999	H88L	probably benign	Het
Dhdh	A	G	7: 45,479,106	L216P	probably damaging	Het
Dpp6	T	C	5: 27,666,511	F544S	probably damaging	Het
Dthd1	C	T	5: 62,888,206	T771I	probably benign	Het
Dusp27	A	T	1: 166,127,106	V25E	probably damaging	Het
Emc10	A	G	7: 44,493,188		probably null	Het
Fam198a	C	T	9: 121,965,718	R313W	probably damaging	Het
Fgg	A	T	3: 83,012,765	T284S	probably benign	Het
Gm3002	T	A	14: 3,824,737	N24K	probably damaging	Het
Gm8674	G	A	13: 49,901,998		noncoding transcript	Het
Gpr63	G	A	4: 25,008,368	W364*	probably null	Het
Hcn4	C	G	9: 58,859,828	P891A	unknown	Het
Hcrtr1	A	T	4: 130,130,999	F365I	possibly damaging	Het
Hmcn2	A	G	2: 31,354,164		probably null	Het
Hoxc5	T	A	15: 103,015,354	L194H	probably damaging	Het
Ifna11	A	G	4: 88,820,050	N31S	probably null	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Iqgap2	A	T	13: 95,630,006	D1496E	probably benign	Het
Kif28	G	T	1: 179,708,442	Q556K	probably damaging	Het
Klhl42	C	T	6: 147,108,004	T447I	possibly damaging	Het
Lrp1b	A	C	2: 41,788,974	D35E	probably damaging	Het
Lsm14b	A	G	2: 180,033,899		probably benign	Het
Map3k14	T	A	11: 103,239,531	N187Y	probably benign	Het
Mcm6	A	T	1: 128,335,849	V645E	probably damaging	Het
Mdh1b	G	T	1: 63,719,863	P190Q	probably damaging	Het
Meiob	T	G	17: 24,818,379	L77R	probably damaging	Het
Mkl1	C	A	15: 81,045,275		probably benign	Het
Mrgpra3	A	T	7: 47,589,519	F220I	probably benign	Het
Mtor	T	A	4: 148,491,360	S1324T	possibly damaging	Het
Myot	T	A	18: 44,354,928	D437E	possibly damaging	Het
Ncoa6	G	T	2: 155,421,332	T394K	possibly damaging	Het
Nf1	T	A	11: 79,565,553		probably null	Het
Nup210	T	A	6: 91,036,469	T1190S	possibly damaging	Het
Odf1	T	A	15: 38,226,408	I184N	probably damaging	Het
Olfr178	G	T	16: 58,889,594	Q209K	possibly damaging	Het
Olfr270	T	C	4: 52,970,960	V113A	possibly damaging	Het
Olfr353	A	G	2: 36,890,707	I47T	probably damaging	Het
Olfr959	C	T	9: 39,572,758	C167Y	probably damaging	Het
Padi1	A	G	4: 140,845,590	V21A	probably benign	Het
Pdzrn3	C	T	6: 101,151,590	R705H	probably damaging	Het
Pik3cb	T	C	9: 99,105,632	I18V	probably benign	Het
Pmpca	T	C	2: 26,390,308	S117P	probably damaging	Het
Poteg	T	A	8: 27,494,981		probably benign	Het
Rab30	G	A	7: 92,829,563	R72H	probably damaging	Het
Ramp2	T	A	11: 101,247,557		probably null	Het
Rbks	G	A	5: 31,624,532	T308I	probably damaging	Het
Rnf112	A	G	11: 61,452,926		probably benign	Het
Rnf38	G	A	4: 44,152,460	P3S	probably damaging	Het
Sec16a	A	G	2: 26,412,871	S2344P	probably benign	Het
Slc16a8	C	T	15: 79,252,884	V109M	possibly damaging	Het
Slc28a1	A	T	7: 81,142,009	T308S	possibly damaging	Het
Slc39a3	T	C	10: 81,031,619	T98A	possibly damaging	Het
Smarcc2	T	C	10: 128,483,180	F731L	probably damaging	Het
Smc4	A	G	3: 69,018,239		probably benign	Het
Sparcl1	T	G	5: 104,092,910	D216A	probably damaging	Het
Speg	G	A	1: 75,387,869	R192H	probably damaging	Het
Sspo	T	C	6: 48,464,605	L1892P	probably damaging	Het
Tacc2	A	G	7: 130,623,948	N807D	probably damaging	Het
Teddm1a	A	T	1: 153,892,233	K148*	probably null	Het
Tex15	T	A	8: 33,574,470	D1309E	probably benign	Het
Thbs1	A	T	2: 118,114,778	E277D	probably benign	Het
Ticrr	G	A	7: 79,660,410	R24Q	probably damaging	Het
Tigd4	A	G	3: 84,595,153	E459G	probably benign	Het
Tln2	C	A	9: 67,355,125	A615S	probably damaging	Het
Tmprss5	T	C	9: 49,115,517	V410A	probably damaging	Het
Tnrc6a	G	T	7: 123,189,872	W1638L	probably damaging	Het
Tpr	A	G	1: 150,410,059	D424G	probably damaging	Het
Trim34a	A	T	7: 104,261,064	K358*	probably null	Het
Tssk5	T	A	15: 76,374,656	D10V	possibly damaging	Het
Usp35	A	C	7: 97,313,575	L470R	probably damaging	Het
Usp42	T	C	5: 143,715,364	D968G	possibly damaging	Het
Utrn	A	G	10: 12,455,420	V2924A	probably damaging	Het
Wdtc1	C	A	4: 133,294,343	A627S	probably damaging	Het
Xrra1	A	G	7: 99,906,523	T366A	probably damaging	Het
Zfp712	T	A	13: 67,040,709	K585*	probably null	Het
Zfp97	T	A	17: 17,145,131	N297K	probably damaging	Het
Zfp97	G	T	17: 17,144,676	E146*	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
IGL02104:Map3k1	APN	13	111756243	missense	probably damaging	0.99
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
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
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
X0065:Map3k1	UTSW	13	111757105	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTCTGTGTGTCGTGAAC -3'
(R):5'- AAAGTGTGACCTGTTACCTGGAATATC -3'

Sequencing Primer
(F):5'- CGACAGCCATGAACAGACTGG -3'
(R):5'- TGGTCAGATGTGCTTCTC -3'

Posted On

2016-04-27