Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Map3k4'

365930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k4

Ensembl Gene

ENSMUSG00000014426

Gene Name

mitogen-activated protein kinase kinase kinase 4

Synonyms

T-associated sex reversal, D17Rp17, D17Rp17e, Mekk4, Tas, RP17, MAPKKK4, MTK1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

12446508-12537683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12491036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 132 (S132C)

Ref Sequence

ENSEMBL: ENSMUSP00000086459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089058]

AlphaFold

O08648

Predicted Effect

probably damaging
Transcript: ENSMUST00000089058
AA Change: S132C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086459
Gene: ENSMUSG00000014426
AA Change: S132C

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	27	43	N/A	INTRINSIC
low complexity region	215	235	N/A	INTRINSIC
low complexity region	432	462	N/A	INTRINSIC
low complexity region	1177	1191	N/A	INTRINSIC
S_TKc	1332	1590	1.41e-91	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice exhibit some perinatal lethality and survivors appear smaller. On certain genetic backgrounds, heterozygous X/Y mice may develop as phenotypic females or hermaphrodites. The sex-reversal phenotype is dependent on a combination of strain-specific autosomal and Y-linked alleles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6ap1	A	G	X: 73,340,924 (GRCm39)	D47G	probably benign	Het
Atr	T	C	9: 95,747,314 (GRCm39)	F199L	probably benign	Het
Bivm	C	A	1: 44,182,120 (GRCm39)	H443N	probably benign	Het
Btnl2	A	T	17: 34,580,043 (GRCm39)	H192L	probably benign	Het
Ccdc178	A	T	18: 22,253,775 (GRCm39)	C155S	probably benign	Het
Celsr1	C	A	15: 85,785,673 (GRCm39)	V2934L	probably benign	Het
Celsr3	T	C	9: 108,726,652 (GRCm39)	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,115,579 (GRCm39)	E585V	possibly damaging	Het
Elapor2	T	C	5: 9,511,478 (GRCm39)	Y947H	probably damaging	Het
Eps15l1	A	T	8: 73,138,606 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,051,491 (GRCm39)	T70K	probably damaging	Het
Ext2	A	T	2: 93,534,964 (GRCm39)		probably null	Het
Fam124a	G	A	14: 62,793,368 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,103 (GRCm39)	D201G	probably damaging	Het
Fgf14	C	T	14: 124,369,891 (GRCm39)	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,614,623 (GRCm39)	T323S	probably benign	Het
Gemin5	A	T	11: 58,047,556 (GRCm39)	N339K	probably damaging	Het
Golga4	A	G	9: 118,364,522 (GRCm39)	E286G	probably benign	Het
Golga4	A	C	9: 118,363,700 (GRCm39)	K233T	probably damaging	Het
Gosr1	A	G	11: 76,641,732 (GRCm39)		probably benign	Het
Haus8	A	G	8: 71,708,361 (GRCm39)		probably benign	Het
Itgb3bp	T	C	4: 99,690,373 (GRCm39)	T49A	probably null	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Lpo	A	G	11: 87,706,004 (GRCm39)	M273T	possibly damaging	Het
Mycbp2	T	G	14: 103,414,715 (GRCm39)	T2566P	probably benign	Het
Nalcn	T	C	14: 123,536,284 (GRCm39)	E1255G	probably null	Het
Nop56	A	T	2: 130,120,117 (GRCm39)	K157N	probably damaging	Het
Or10g9	C	T	9: 39,912,194 (GRCm39)	E110K	probably benign	Het
Or6c1	A	T	10: 129,517,857 (GRCm39)	Y250*	probably null	Het
Pcdh15	A	G	10: 74,340,648 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,074 (GRCm39)	H557R	probably damaging	Het
Plekha4	C	T	7: 45,181,787 (GRCm39)	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,345,192 (GRCm39)		probably benign	Het
Rgmb	C	T	17: 16,027,755 (GRCm39)	M321I	probably benign	Het
Rnf31	T	C	14: 55,833,131 (GRCm39)	S363P	probably benign	Het
Sap18b	T	A	8: 96,552,329 (GRCm39)	M113K	probably benign	Het
Scara3	T	A	14: 66,169,105 (GRCm39)	M171L	probably benign	Het
Slc9a2	T	G	1: 40,781,863 (GRCm39)	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,666,368 (GRCm39)	W180*	probably null	Het
Stat6	T	A	10: 127,482,809 (GRCm39)	M10K	probably benign	Het
Sun1	T	C	5: 139,221,243 (GRCm39)		probably benign	Het
Tead2	T	C	7: 44,869,858 (GRCm39)		probably benign	Het
Tjp1	T	G	7: 64,964,638 (GRCm39)	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,206,411 (GRCm39)	S295P	probably damaging	Het
Ttn	G	A	2: 76,612,756 (GRCm39)	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,711,664 (GRCm39)		probably null	Het
Vmn2r108	T	A	17: 20,691,545 (GRCm39)	H326L	probably benign	Het
Xdh	A	G	17: 74,250,840 (GRCm39)		probably null	Het
Zfp385b	A	G	2: 77,242,403 (GRCm39)	S439P	probably benign	Het
Zfp597	G	A	16: 3,683,805 (GRCm39)	S317L	probably benign	Het
Zfp638	A	G	6: 83,946,214 (GRCm39)	D1081G	probably damaging	Het
Zfp93	C	T	7: 23,974,509 (GRCm39)	H165Y	possibly damaging	Het

Other mutations in Map3k4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Map3k4	APN	17	12,451,877 (GRCm39)	missense	probably damaging	1.00
IGL01124:Map3k4	APN	17	12,474,087 (GRCm39)	missense	probably benign	0.01
IGL01125:Map3k4	APN	17	12,490,849 (GRCm39)	missense	probably damaging	0.96
IGL01585:Map3k4	APN	17	12,467,846 (GRCm39)	missense	probably damaging	1.00
IGL02194:Map3k4	APN	17	12,482,815 (GRCm39)	missense	probably damaging	1.00
IGL02194:Map3k4	APN	17	12,467,882 (GRCm39)	missense	probably benign	0.30
IGL02292:Map3k4	APN	17	12,454,045 (GRCm39)	missense	possibly damaging	0.77
IGL02326:Map3k4	APN	17	12,467,897 (GRCm39)	missense	probably damaging	1.00
IGL02388:Map3k4	APN	17	12,490,497 (GRCm39)	missense	probably damaging	0.99
IGL02621:Map3k4	APN	17	12,482,900 (GRCm39)	missense	probably damaging	1.00
IGL02668:Map3k4	APN	17	12,454,840 (GRCm39)	missense	possibly damaging	0.85
IGL02850:Map3k4	APN	17	12,490,801 (GRCm39)	missense	probably damaging	1.00
IGL03148:Map3k4	APN	17	12,457,045 (GRCm39)	missense	probably benign	0.01
IGL03238:Map3k4	APN	17	12,490,045 (GRCm39)	missense	probably benign	0.10
ANU74:Map3k4	UTSW	17	12,451,863 (GRCm39)	missense	probably damaging	1.00
R0012:Map3k4	UTSW	17	12,457,076 (GRCm39)	missense	probably damaging	1.00
R0012:Map3k4	UTSW	17	12,457,076 (GRCm39)	missense	probably damaging	1.00
R0128:Map3k4	UTSW	17	12,466,950 (GRCm39)	missense	probably damaging	0.99
R0183:Map3k4	UTSW	17	12,454,015 (GRCm39)	missense	probably damaging	1.00
R0309:Map3k4	UTSW	17	12,489,902 (GRCm39)	frame shift	probably null
R0355:Map3k4	UTSW	17	12,473,058 (GRCm39)	missense	probably damaging	1.00
R0367:Map3k4	UTSW	17	12,476,928 (GRCm39)	splice site	probably benign
R1103:Map3k4	UTSW	17	12,455,950 (GRCm39)	splice site	probably null
R1446:Map3k4	UTSW	17	12,475,681 (GRCm39)	nonsense	probably null
R1542:Map3k4	UTSW	17	12,454,793 (GRCm39)	missense	probably damaging	0.97
R1713:Map3k4	UTSW	17	12,468,458 (GRCm39)	missense	probably benign	0.39
R1777:Map3k4	UTSW	17	12,490,617 (GRCm39)	missense	possibly damaging	0.82
R1797:Map3k4	UTSW	17	12,482,906 (GRCm39)	missense	probably benign	0.30
R1997:Map3k4	UTSW	17	12,473,882 (GRCm39)	critical splice donor site	probably null
R2042:Map3k4	UTSW	17	12,496,870 (GRCm39)	missense	probably damaging	0.99
R2878:Map3k4	UTSW	17	12,482,954 (GRCm39)	missense	probably benign	0.00
R2939:Map3k4	UTSW	17	12,480,157 (GRCm39)	missense	probably damaging	0.98
R2940:Map3k4	UTSW	17	12,480,157 (GRCm39)	missense	probably damaging	0.98
R3405:Map3k4	UTSW	17	12,475,668 (GRCm39)	missense	probably damaging	1.00
R3930:Map3k4	UTSW	17	12,454,880 (GRCm39)	missense	possibly damaging	0.83
R4291:Map3k4	UTSW	17	12,474,147 (GRCm39)	missense	probably benign	0.08
R4410:Map3k4	UTSW	17	12,467,885 (GRCm39)	missense	probably damaging	1.00
R4632:Map3k4	UTSW	17	12,451,391 (GRCm39)	missense	probably damaging	1.00
R4641:Map3k4	UTSW	17	12,482,932 (GRCm39)	missense	probably damaging	1.00
R4726:Map3k4	UTSW	17	12,451,851 (GRCm39)	missense	possibly damaging	0.89
R4730:Map3k4	UTSW	17	12,467,861 (GRCm39)	missense	probably damaging	0.99
R4832:Map3k4	UTSW	17	12,490,667 (GRCm39)	missense	probably damaging	1.00
R4896:Map3k4	UTSW	17	12,490,906 (GRCm39)	missense	possibly damaging	0.65
R4934:Map3k4	UTSW	17	12,490,787 (GRCm39)	missense	probably damaging	1.00
R4971:Map3k4	UTSW	17	12,468,382 (GRCm39)	critical splice donor site	probably null
R4980:Map3k4	UTSW	17	12,490,958 (GRCm39)	missense	probably damaging	1.00
R5211:Map3k4	UTSW	17	12,451,321 (GRCm39)	missense	possibly damaging	0.88
R5337:Map3k4	UTSW	17	12,490,497 (GRCm39)	missense	probably damaging	0.99
R5356:Map3k4	UTSW	17	12,466,195 (GRCm39)	missense	possibly damaging	0.87
R5550:Map3k4	UTSW	17	12,462,445 (GRCm39)	nonsense	probably null
R5824:Map3k4	UTSW	17	12,448,526 (GRCm39)	missense	probably damaging	1.00
R5890:Map3k4	UTSW	17	12,490,303 (GRCm39)	missense	probably damaging	1.00
R6285:Map3k4	UTSW	17	12,482,945 (GRCm39)	missense	probably damaging	1.00
R6380:Map3k4	UTSW	17	12,490,954 (GRCm39)	missense	possibly damaging	0.56
R6383:Map3k4	UTSW	17	12,468,470 (GRCm39)	missense	possibly damaging	0.82
R6571:Map3k4	UTSW	17	12,461,579 (GRCm39)	missense	possibly damaging	0.80
R6584:Map3k4	UTSW	17	12,479,378 (GRCm39)	missense	probably damaging	1.00
R6616:Map3k4	UTSW	17	12,490,231 (GRCm39)	missense	probably damaging	1.00
R6644:Map3k4	UTSW	17	12,451,297 (GRCm39)	critical splice donor site	probably null
R6909:Map3k4	UTSW	17	12,489,872 (GRCm39)	missense	probably damaging	1.00
R6947:Map3k4	UTSW	17	12,479,456 (GRCm39)	nonsense	probably null
R6970:Map3k4	UTSW	17	12,467,803 (GRCm39)	missense	probably damaging	1.00
R7120:Map3k4	UTSW	17	12,490,354 (GRCm39)	missense	probably damaging	1.00
R7253:Map3k4	UTSW	17	12,490,955 (GRCm39)	missense	probably benign	0.00
R7267:Map3k4	UTSW	17	12,490,536 (GRCm39)	nonsense	probably null
R7322:Map3k4	UTSW	17	12,489,833 (GRCm39)	missense	probably damaging	1.00
R7522:Map3k4	UTSW	17	12,480,219 (GRCm39)	missense	probably benign	0.39
R7554:Map3k4	UTSW	17	12,451,301 (GRCm39)	nonsense	probably null
R7554:Map3k4	UTSW	17	12,451,300 (GRCm39)	missense	probably damaging	1.00
R7681:Map3k4	UTSW	17	12,537,430 (GRCm39)	missense	unknown
R7734:Map3k4	UTSW	17	12,482,998 (GRCm39)	missense	probably damaging	1.00
R7842:Map3k4	UTSW	17	12,490,030 (GRCm39)	missense	possibly damaging	0.54
R8013:Map3k4	UTSW	17	12,489,918 (GRCm39)	nonsense	probably null
R8014:Map3k4	UTSW	17	12,489,918 (GRCm39)	nonsense	probably null
R8235:Map3k4	UTSW	17	12,458,968 (GRCm39)	splice site	probably null
R8294:Map3k4	UTSW	17	12,537,500 (GRCm39)	missense	unknown
R8528:Map3k4	UTSW	17	12,451,821 (GRCm39)	missense	probably damaging	1.00
R8858:Map3k4	UTSW	17	12,490,759 (GRCm39)	missense	probably damaging	1.00
R8924:Map3k4	UTSW	17	12,490,433 (GRCm39)	missense	probably benign	0.00
R9063:Map3k4	UTSW	17	12,482,878 (GRCm39)	missense	probably damaging	1.00
R9224:Map3k4	UTSW	17	12,456,973 (GRCm39)	missense	probably damaging	0.99
R9446:Map3k4	UTSW	17	12,451,375 (GRCm39)	missense	probably damaging	1.00
R9486:Map3k4	UTSW	17	12,489,860 (GRCm39)	missense	probably damaging	1.00
R9488:Map3k4	UTSW	17	12,489,860 (GRCm39)	missense	probably damaging	1.00
R9591:Map3k4	UTSW	17	12,454,795 (GRCm39)	missense	possibly damaging	0.91
R9617:Map3k4	UTSW	17	12,476,871 (GRCm39)	missense	possibly damaging	0.67
R9722:Map3k4	UTSW	17	12,490,523 (GRCm39)	missense	probably benign	0.01
X0067:Map3k4	UTSW	17	12,482,981 (GRCm39)	missense	probably benign	0.03
Z1177:Map3k4	UTSW	17	12,490,584 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18