Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01594:Map3k1'

91693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k1

Ensembl Gene

ENSMUSG00000021754

Gene Name

mitogen-activated protein kinase kinase kinase 1

Synonyms

MEKK1, Mekk

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

IGL01594

Quality Score

Status

Chromosome

Chromosomal Location

111882962-111945527 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 111894723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104890 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000109267

SMART Domains

Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754

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

probably null
Transcript: ENSMUST00000109267

SMART Domains

Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,996,071 (GRCm39)		probably null	Het
Acss1	A	T	2: 150,463,450 (GRCm39)	V618E	probably damaging	Het
Adgrg6	T	C	10: 14,310,084 (GRCm39)	N774D	probably damaging	Het
Atp9a	A	G	2: 168,532,932 (GRCm39)	V134A	probably damaging	Het
Csmd3	T	A	15: 47,492,635 (GRCm39)	T3169S	probably benign	Het
D030068K23Rik	T	A	8: 109,978,009 (GRCm39)	Q52L	unknown	Het
Dnah5	T	C	15: 28,311,480 (GRCm39)	S1820P	possibly damaging	Het
Fem1c	A	C	18: 46,639,343 (GRCm39)	S220A	probably benign	Het
Gm10305	G	A	4: 99,161,414 (GRCm39)	D108N	unknown	Het
Gtdc1	A	G	2: 44,481,891 (GRCm39)		probably null	Het
Il2ra	T	C	2: 11,685,207 (GRCm39)	V181A	possibly damaging	Het
Lrrn1	T	C	6: 107,544,454 (GRCm39)	I84T	probably damaging	Het
Mical1	T	G	10: 41,356,325 (GRCm39)	Y293D	probably damaging	Het
Mpzl1	T	C	1: 165,421,161 (GRCm39)	D266G	probably damaging	Het
Or55b4	C	A	7: 102,134,254 (GRCm39)	M24I	probably benign	Het
Pabpc4l	A	T	3: 46,401,581 (GRCm39)	V21D	probably damaging	Het
Prdm10	T	C	9: 31,258,149 (GRCm39)	C525R	probably damaging	Het
Ptprj	C	A	2: 90,271,139 (GRCm39)		probably benign	Het
Rgs3	T	C	4: 62,537,981 (GRCm39)	F4S	probably damaging	Het
Ryr3	G	A	2: 112,603,073 (GRCm39)	T2457I	probably damaging	Het
Scn3a	A	G	2: 65,291,775 (GRCm39)	I1657T	probably damaging	Het
Sema6a	A	G	18: 47,381,884 (GRCm39)	S888P	probably damaging	Het
Slc37a1	T	A	17: 31,538,122 (GRCm39)	Y148*	probably null	Het
Tex10	T	C	4: 48,469,906 (GRCm39)	N53S	possibly damaging	Het
Tyr	A	T	7: 87,133,022 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,751,495 (GRCm39)	S513G	possibly damaging	Het

Other mutations in Map3k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09