Mutagenetix > Incidental Mutation

Incidental Mutation 'R6947:Map3k4'

540950

Institutional Source

Beutler Lab

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

MMRRC Submission

045060-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R6947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12446508-12537683 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 12479456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 704 (Q704*)

Ref Sequence

ENSEMBL: ENSMUSP00000086459 (fasta)

Gene Model

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

AlphaFold

O08648

Predicted Effect

probably null
Transcript: ENSMUST00000089058
AA Change: Q704*

SMART Domains

Protein: ENSMUSP00000086459
Gene: ENSMUSG00000014426
AA Change: Q704*

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

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.0%

Validation Efficiency

100% (46/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,073,857 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,015,848 (GRCm39)	T414A	possibly damaging	Het
Bop1	A	G	15: 76,338,188 (GRCm39)	F561L	probably damaging	Het
Ccdc18	T	C	5: 108,309,401 (GRCm39)	V332A	probably benign	Het
Cep290	A	G	10: 100,365,918 (GRCm39)	T1042A	probably damaging	Het
Cnot8	G	T	11: 58,008,331 (GRCm39)	V266L	probably benign	Het
Cxxc4	C	T	3: 133,946,277 (GRCm39)	S286F	possibly damaging	Het
Cyp2d12	A	T	15: 82,443,248 (GRCm39)	I386L	probably benign	Het
Dgka	A	T	10: 128,568,884 (GRCm39)	I227N	probably damaging	Het
Eif2d	T	C	1: 131,092,404 (GRCm39)	V354A	probably benign	Het
Fgr	T	A	4: 132,722,380 (GRCm39)		probably null	Het
Idnk	A	G	13: 58,308,055 (GRCm39)		probably null	Het
Kmt2e	T	C	5: 23,702,543 (GRCm39)	S952P	probably damaging	Het
Kng1	A	G	16: 22,896,124 (GRCm39)	H343R	probably benign	Het
Lgals8	G	A	13: 12,469,682 (GRCm39)		probably benign	Het
Lrit3	T	A	3: 129,582,883 (GRCm39)	Q368L	probably benign	Het
Lypd8	A	T	11: 58,273,592 (GRCm39)	T24S	probably benign	Het
Mcm3ap	A	G	10: 76,351,500 (GRCm39)	I1948V	probably benign	Het
Mettl25	A	G	10: 105,662,053 (GRCm39)	F306L	probably benign	Het
Mos	A	C	4: 3,871,585 (GRCm39)	V77G	probably damaging	Het
Muc4	C	T	16: 32,596,177 (GRCm39)	R3130C	possibly damaging	Het
Naxd	T	C	8: 11,552,757 (GRCm39)	V59A	probably damaging	Het
Nup107	A	G	10: 117,593,179 (GRCm39)	V833A	probably benign	Het
Or1p4-ps1	C	T	11: 74,208,370 (GRCm39)	S173L	unknown	Het
Or5m10b	T	C	2: 85,699,271 (GRCm39)	F112L	probably benign	Het
Pcnx2	C	T	8: 126,577,021 (GRCm39)		probably null	Het
Pde10a	T	A	17: 9,188,424 (GRCm39)	I908N	probably damaging	Het
Plcb1	A	G	2: 135,228,075 (GRCm39)	K1058R	probably benign	Het
Rad17	A	T	13: 100,759,383 (GRCm39)	F548Y	probably damaging	Het
Rad54b	T	G	4: 11,569,859 (GRCm39)	S58R	possibly damaging	Het
Rbm20	G	A	19: 53,839,696 (GRCm39)	G895D	probably damaging	Het
Rgs22	T	C	15: 36,104,036 (GRCm39)		probably null	Het
Rhobtb3	A	G	13: 76,058,785 (GRCm39)	S338P	probably benign	Het
Ruvbl2	A	G	7: 45,074,373 (GRCm39)		probably null	Het
Slc16a12	A	G	19: 34,650,007 (GRCm39)	F343L	probably benign	Het
Slc22a28	A	G	19: 8,041,875 (GRCm39)	L444P	possibly damaging	Het
Slc44a4	A	T	17: 35,147,044 (GRCm39)	Q358L	probably null	Het
Sowaha	A	G	11: 53,369,225 (GRCm39)	F504L	probably benign	Het
Syne1	A	G	10: 5,125,789 (GRCm39)	L6035P	probably damaging	Het
Thbs2	A	T	17: 14,910,029 (GRCm39)	M190K	possibly damaging	Het
Tmem171	A	G	13: 98,824,950 (GRCm39)	F227L	possibly damaging	Het
Trp53	A	G	11: 69,479,307 (GRCm39)	K162E	possibly damaging	Het
Ttn	T	A	2: 76,724,732 (GRCm39)	K2098*	probably null	Het
Usp30	T	C	5: 114,241,821 (GRCm39)	S88P	probably benign	Het
Zfp276	C	A	8: 123,981,643 (GRCm39)	D63E	probably benign	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
IGL02939:Map3k4	APN	17	12,491,036 (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
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

Predicted Primers

PCR Primer
(F):5'- TACCTGGGAGTTGAGGAATCCG -3'
(R):5'- CGTGTTGTTGCTGAAGACTCAC -3'

Sequencing Primer
(F):5'- CGGGAGGGGCGAGAAGG -3'
(R):5'- GTTGTTGCTGAAGACTCACACAGC -3'

Posted On

2018-11-28