Mutagenetix > Incidental Mutation

Incidental Mutation 'R3500:Map3k11'

273784

Institutional Source

Beutler Lab

Gene Symbol

Map3k11

Ensembl Gene

ENSMUSG00000004054

Gene Name

mitogen-activated protein kinase kinase kinase 11

Synonyms

Mlk3, 2610017K16Rik

MMRRC Submission

040663-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5738770-5752893 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 5740275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000004156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004156] [ENSMUST00000068169] [ENSMUST00000113615]

AlphaFold

Q80XI6

Predicted Effect

probably benign
Transcript: ENSMUST00000004156
AA Change: M1L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
AA Change: M1L

Domain	Start	End	E-Value	Type
low complexity region	11	36	N/A	INTRINSIC
SH3	45	105	6.79e-19	SMART
TyrKc	118	377	6.83e-81	SMART
coiled coil region	398	444	N/A	INTRINSIC
low complexity region	467	476	N/A	INTRINSIC
low complexity region	593	610	N/A	INTRINSIC
low complexity region	614	632	N/A	INTRINSIC
low complexity region	676	697	N/A	INTRINSIC
low complexity region	759	778	N/A	INTRINSIC
low complexity region	786	805	N/A	INTRINSIC
low complexity region	809	820	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068169

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	370	376	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC
transmembrane domain	411	428	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	501	523	N/A	INTRINSIC
transmembrane domain	538	560	N/A	INTRINSIC
transmembrane domain	573	592	N/A	INTRINSIC
transmembrane domain	645	667	N/A	INTRINSIC
transmembrane domain	669	691	N/A	INTRINSIC
low complexity region	1011	1025	N/A	INTRINSIC
Pfam:Pecanex_C	1159	1389	7.5e-124	PFAM
low complexity region	1462	1479	N/A	INTRINSIC
low complexity region	1481	1510	N/A	INTRINSIC
low complexity region	1525	1538	N/A	INTRINSIC
low complexity region	1558	1569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113615

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	438	459	N/A	INTRINSIC
low complexity region	778	784	N/A	INTRINSIC
transmembrane domain	793	815	N/A	INTRINSIC
transmembrane domain	819	836	N/A	INTRINSIC
transmembrane domain	849	871	N/A	INTRINSIC
transmembrane domain	881	900	N/A	INTRINSIC
transmembrane domain	909	931	N/A	INTRINSIC
transmembrane domain	946	968	N/A	INTRINSIC
transmembrane domain	981	1000	N/A	INTRINSIC
transmembrane domain	1053	1075	N/A	INTRINSIC
transmembrane domain	1077	1099	N/A	INTRINSIC
low complexity region	1419	1433	N/A	INTRINSIC
Pfam:Pecanex_C	1570	1796	5.9e-116	PFAM
low complexity region	1870	1887	N/A	INTRINSIC
low complexity region	1889	1918	N/A	INTRINSIC
low complexity region	1933	1946	N/A	INTRINSIC
low complexity region	1966	1977	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135119

Meta Mutation Damage Score

0.8203

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

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 member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted or spontaneous mutation display a pattern of dark red stripes of thin dorsal epithelium during pre-wean development, and necrotic dental pulp has been reported for the spontaneous mutant. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amhr2	A	G	15: 102,355,501 (GRCm39)	D188G	probably benign	Het
Arl15	G	A	13: 114,104,228 (GRCm39)	E102K	probably damaging	Het
Atp10d	C	T	5: 72,403,066 (GRCm39)	R319C	probably damaging	Het
Cetn4	A	T	3: 37,364,109 (GRCm39)	F34I	probably benign	Het
Chd8	G	T	14: 52,443,110 (GRCm39)	H510N	probably benign	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Clcn1	T	C	6: 42,269,929 (GRCm39)	S251P	probably damaging	Het
Clstn3	A	T	6: 124,408,670 (GRCm39)	C881S	probably benign	Het
Cnot4	G	A	6: 35,057,076 (GRCm39)		probably benign	Het
Copg1	G	A	6: 87,872,905 (GRCm39)		probably benign	Het
Czib	C	T	4: 107,748,710 (GRCm39)	R83W	probably damaging	Het
Eftud2	A	G	11: 102,735,006 (GRCm39)	M631T	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Fancb	A	G	X: 163,779,104 (GRCm39)	T721A	probably damaging	Het
Fat2	A	G	11: 55,151,342 (GRCm39)	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,584,575 (GRCm39)	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184 (GRCm39)		probably benign	Het
Gata4	C	T	14: 63,437,982 (GRCm39)	G390S	possibly damaging	Het
Gm9396	C	A	3: 129,862,144 (GRCm39)		noncoding transcript	Het
Grid2	T	C	6: 63,480,383 (GRCm39)	S66P	probably damaging	Het
Hdac9	C	A	12: 34,487,352 (GRCm39)	M16I	probably benign	Het
Kmt2c	A	T	5: 25,504,477 (GRCm39)	D3610E	probably benign	Het
Lactb2	A	T	1: 13,730,673 (GRCm39)	M1K	probably null	Het
Ldhb	T	C	6: 142,447,173 (GRCm39)	D47G	probably damaging	Het
Mecom	C	T	3: 30,035,061 (GRCm39)	R205H	probably damaging	Het
Mob1b	A	G	5: 88,897,479 (GRCm39)	D129G	probably benign	Het
Nbea	A	G	3: 55,588,431 (GRCm39)	V2436A	possibly damaging	Het
Neb	T	C	2: 52,215,797 (GRCm39)	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,345,931 (GRCm39)	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,597,952 (GRCm39)	R282*	probably null	Het
Or4c102	A	G	2: 88,422,285 (GRCm39)	T46A	probably damaging	Het
Or4c119	C	T	2: 88,987,403 (GRCm39)	G39R	probably damaging	Het
Or4d10c	A	G	19: 12,065,421 (GRCm39)	V245A	possibly damaging	Het
Or4f47	T	C	2: 111,972,472 (GRCm39)	F61L	possibly damaging	Het
Or52e2	T	C	7: 102,804,297 (GRCm39)	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,630,532 (GRCm39)	L109*	probably null	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Podxl2	T	C	6: 88,819,900 (GRCm39)	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,587,273 (GRCm39)	T252A	probably benign	Het
Pramel6	A	G	2: 87,339,569 (GRCm39)	H111R	probably damaging	Het
Prr19	A	G	7: 25,002,692 (GRCm39)	E130G	probably damaging	Het
Rab44	C	T	17: 29,357,041 (GRCm39)	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,210,531 (GRCm39)	F95L	probably damaging	Het
Sdk1	G	T	5: 141,992,371 (GRCm39)		probably benign	Het
Tas2r122	T	A	6: 132,688,523 (GRCm39)	K123N	probably damaging	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Trpm2	A	G	10: 77,768,136 (GRCm39)	F788L	probably benign	Het
Ttn	G	A	2: 76,560,628 (GRCm39)	L29258F	probably damaging	Het
Ttn	G	T	2: 76,591,509 (GRCm39)	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,690,129 (GRCm39)	I335T	possibly damaging	Het

Other mutations in Map3k11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Map3k11	APN	19	5,747,651 (GRCm39)	missense	possibly damaging	0.91
IGL02581:Map3k11	APN	19	5,750,834 (GRCm39)	missense	probably benign
pow	UTSW	19	5,750,622 (GRCm39)	missense	probably benign	0.03
yow	UTSW	19	5,747,429 (GRCm39)	missense	probably benign	0.34
R0130:Map3k11	UTSW	19	5,740,843 (GRCm39)	missense	probably damaging	1.00
R0193:Map3k11	UTSW	19	5,745,874 (GRCm39)	missense	probably damaging	0.99
R1621:Map3k11	UTSW	19	5,740,834 (GRCm39)	missense	probably damaging	1.00
R1736:Map3k11	UTSW	19	5,747,429 (GRCm39)	missense	probably benign	0.34
R1791:Map3k11	UTSW	19	5,745,600 (GRCm39)	nonsense	probably null
R3836:Map3k11	UTSW	19	5,740,831 (GRCm39)	missense	possibly damaging	0.71
R3892:Map3k11	UTSW	19	5,752,311 (GRCm39)	missense	probably benign	0.13
R4303:Map3k11	UTSW	19	5,740,852 (GRCm39)	missense	probably damaging	1.00
R4513:Map3k11	UTSW	19	5,752,238 (GRCm39)	missense	probably damaging	0.97
R4613:Map3k11	UTSW	19	5,747,499 (GRCm39)	missense	probably damaging	0.98
R4613:Map3k11	UTSW	19	5,747,498 (GRCm39)	missense	probably benign	0.18
R4631:Map3k11	UTSW	19	5,740,941 (GRCm39)	missense	probably benign	0.30
R4780:Map3k11	UTSW	19	5,740,966 (GRCm39)	missense	probably damaging	0.99
R5213:Map3k11	UTSW	19	5,740,669 (GRCm39)	missense	probably damaging	0.99
R5266:Map3k11	UTSW	19	5,750,622 (GRCm39)	missense	probably benign	0.03
R5372:Map3k11	UTSW	19	5,740,990 (GRCm39)	missense	probably damaging	1.00
R5736:Map3k11	UTSW	19	5,746,739 (GRCm39)	missense	probably damaging	1.00
R5899:Map3k11	UTSW	19	5,745,937 (GRCm39)	critical splice donor site	probably null
R6052:Map3k11	UTSW	19	5,747,430 (GRCm39)	missense	probably benign	0.01
R6388:Map3k11	UTSW	19	5,740,279 (GRCm39)	missense	probably damaging	0.96
R6623:Map3k11	UTSW	19	5,745,631 (GRCm39)	missense	probably damaging	0.97
R6975:Map3k11	UTSW	19	5,740,755 (GRCm39)	missense	possibly damaging	0.91
R7309:Map3k11	UTSW	19	5,740,486 (GRCm39)	missense	probably damaging	0.99
R7771:Map3k11	UTSW	19	5,740,636 (GRCm39)	missense	probably damaging	0.99
R7815:Map3k11	UTSW	19	5,745,667 (GRCm39)	missense	possibly damaging	0.89
R8988:Map3k11	UTSW	19	5,752,166 (GRCm39)	missense	probably damaging	1.00
R9130:Map3k11	UTSW	19	5,746,038 (GRCm39)	missense	possibly damaging	0.69
R9502:Map3k11	UTSW	19	5,740,624 (GRCm39)	missense	probably damaging	1.00
X0025:Map3k11	UTSW	19	5,746,223 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTCCAAAAGCCCGAGATG -3'
(R):5'- TCTCCTGAGATGGCTGCATC -3'

Sequencing Primer
(F):5'- TTCCGGCTCTAGGGCCTCA -3'
(R):5'- TGAGATGGCTGCATCCCTGG -3'

Posted On

2015-04-02