Mutagenetix > Incidental Mutation

Incidental Mutation 'R3836:Map3k11'

275670

Institutional Source

Beutler Lab

Gene Symbol

Map3k11

Ensembl Gene

ENSMUSG00000004054

Gene Name

mitogen-activated protein kinase kinase kinase 11

Synonyms

Mlk3, 2610017K16Rik

MMRRC Submission

040891-MU

Accession Numbers

Essential gene?

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

Stock #

R3836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5738770-5752893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5740831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 186 (E186G)

Ref Sequence

ENSEMBL: ENSMUSP00000004156 (fasta)

Gene Model

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

AlphaFold

Q80XI6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004156
AA Change: E186G

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
AA Change: E186G

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

0.1470

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
Aasdh	A	G	5: 77,026,315 (GRCm39)	V903A	probably benign	Het
Afg2a	T	A	3: 37,487,792 (GRCm39)	Y428N	possibly damaging	Het
Ankrd6	T	A	4: 32,817,531 (GRCm39)	D271V	probably damaging	Het
Ano10	C	T	9: 122,092,829 (GRCm39)	V167M	possibly damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Bub1	G	T	2: 127,656,806 (GRCm39)	P442Q	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crym	A	G	7: 119,800,439 (GRCm39)	V61A	probably benign	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
Dtna	A	T	18: 23,758,159 (GRCm39)	Q488L	probably damaging	Het
Ecel1	A	C	1: 87,078,378 (GRCm39)	L565R	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fnbp4	A	G	2: 90,577,129 (GRCm39)	T154A	probably damaging	Het
Fsip2	T	C	2: 82,781,290 (GRCm39)	L32P	probably damaging	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Gm12695	T	G	4: 96,650,334 (GRCm39)	T171P	probably damaging	Het
Gm4868	A	C	5: 125,925,014 (GRCm39)		noncoding transcript	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Gstm5	T	C	3: 107,803,678 (GRCm39)	I37T	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itga11	G	T	9: 62,676,565 (GRCm39)	V918L	probably benign	Het
Itgb2l	T	A	16: 96,227,367 (GRCm39)	M559L	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Madd	A	T	2: 90,984,988 (GRCm39)		probably null	Het
Mbl2	T	C	19: 30,216,914 (GRCm39)	F242S	probably damaging	Het
Mcph1	A	G	8: 18,672,675 (GRCm39)	T102A	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mkln1	A	G	6: 31,445,271 (GRCm39)	D389G	probably damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Myd88	A	G	9: 119,167,259 (GRCm39)		probably benign	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nprl3	C	T	11: 32,183,082 (GRCm39)	E502K	probably damaging	Het
Nudt5	T	A	2: 5,871,158 (GRCm39)		probably null	Het
Or52b2	G	A	7: 104,986,417 (GRCm39)	P169S	probably benign	Het
Or5h23	A	G	16: 58,906,586 (GRCm39)	S87P	possibly damaging	Het
Or6c69b	C	T	10: 129,627,039 (GRCm39)	V140M	probably benign	Het
Or8j3	A	G	2: 86,029,006 (GRCm39)	V30A	probably benign	Het
Plaa	T	C	4: 94,475,159 (GRCm39)		probably null	Het
Ptk2b	A	G	14: 66,393,791 (GRCm39)	L894P	probably damaging	Het
Rab8b	A	G	9: 66,755,078 (GRCm39)	S183P	probably benign	Het
Reln	A	G	5: 22,116,012 (GRCm39)	Y2999H	probably damaging	Het
Rims4	A	G	2: 163,760,573 (GRCm39)	S11P	possibly damaging	Het
Scel	A	G	14: 103,829,822 (GRCm39)	K448R	possibly damaging	Het
Serpinb10	A	T	1: 107,463,816 (GRCm39)	T33S	probably benign	Het
Sgip1	A	G	4: 102,724,897 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,807,176 (GRCm39)	M158K	probably damaging	Het
Tmem132d	A	T	5: 127,861,949 (GRCm39)	I724N	probably damaging	Het
Tnrc6c	A	G	11: 117,614,055 (GRCm39)	T738A	probably benign	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Ubtfl1	A	T	9: 18,320,533 (GRCm39)	E20D	possibly damaging	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r25	C	A	6: 123,830,044 (GRCm39)	D36Y	probably damaging	Het
Wdhd1	A	G	14: 47,482,511 (GRCm39)	V946A	probably benign	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Zmynd8	G	A	2: 165,700,019 (GRCm39)	T14I	probably benign	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
R3500:Map3k11	UTSW	19	5,740,275 (GRCm39)	start codon destroyed	probably benign	0.08
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'- AACTATGTATCTCGGGGTGGAG -3'
(R):5'- TCTCGGTGTATCACAGGCAC -3'

Sequencing Primer
(F):5'- ATCGGTGGCTTCGGCAAG -3'
(R):5'- GTGTATCACAGGCACCAGAGC -3'

Posted On

2015-04-06