Mutagenetix > Incidental Mutation

Incidental Mutation 'R7309:Map3k11'

567467

Institutional Source

Beutler Lab

Gene Symbol

Map3k11

Ensembl Gene

ENSMUSG00000004054

Gene Name

mitogen-activated protein kinase kinase kinase 11

Synonyms

Mlk3, 2610017K16Rik

MMRRC Submission

045408-MU

Accession Numbers

Essential gene?

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

Stock #

R7309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5738770-5752893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5740486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 71 (V71A)

Ref Sequence

ENSEMBL: ENSMUSP00000004156 (fasta)

Gene Model

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

AlphaFold

Q80XI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000004156
AA Change: V71A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
AA Change: V71A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (47/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,884,819 (GRCm39)	H346Q	probably damaging	Het
4932414N04Rik	A	T	2: 68,546,530 (GRCm39)	I71L	probably benign	Het
Anapc1	A	G	2: 128,516,604 (GRCm39)	S377P	probably damaging	Het
Cldnd2	A	G	7: 43,091,133 (GRCm39)	T22A	possibly damaging	Het
Comp	A	T	8: 70,826,328 (GRCm39)		probably null	Het
Cop1	A	G	1: 159,134,195 (GRCm39)	K446E	probably damaging	Het
Cox18	T	C	5: 90,362,917 (GRCm39)	T314A	possibly damaging	Het
Csrp3	A	G	7: 48,485,317 (GRCm39)	V60A	probably benign	Het
Dnah8	A	T	17: 31,093,988 (GRCm39)	Y4694F	probably damaging	Het
Dnm1l	A	G	16: 16,139,510 (GRCm39)	Y493H	probably damaging	Het
Esf1	A	T	2: 139,967,011 (GRCm39)		probably null	Het
Fam187a	T	A	11: 102,776,832 (GRCm39)	V212E	probably damaging	Het
Fign	A	T	2: 63,810,301 (GRCm39)	M323K	possibly damaging	Het
Foxf2	A	G	13: 31,810,496 (GRCm39)	K145R	probably damaging	Het
Fxyd5	T	C	7: 30,734,829 (GRCm39)	N133D	probably benign	Het
Hnrnpdl	A	T	5: 100,185,482 (GRCm39)	L240*	probably null	Het
Kcna7	T	G	7: 45,058,679 (GRCm39)	F322C	probably damaging	Het
Kcnj9	A	G	1: 172,153,825 (GRCm39)	C100R	probably damaging	Het
Lrrc14b	C	A	13: 74,511,321 (GRCm39)	C253F	probably benign	Het
Med13	C	A	11: 86,181,888 (GRCm39)	M1315I	probably benign	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Miox	G	T	15: 89,220,252 (GRCm39)	C148F	probably damaging	Het
Mpdz	A	T	4: 81,300,195 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,835,070 (GRCm39)		probably benign	Het
Myh15	G	A	16: 48,916,828 (GRCm39)	A383T	probably benign	Het
Nlrc5	A	G	8: 95,200,670 (GRCm39)	H117R	probably benign	Het
Ntrk1	A	T	3: 87,702,384 (GRCm39)	M23K	probably benign	Het
Or14c45	T	A	7: 86,176,349 (GRCm39)	L128H	probably damaging	Het
Or4c3d	T	A	2: 89,881,801 (GRCm39)	N289I	probably damaging	Het
Or8g21	T	A	9: 38,906,576 (GRCm39)	S52C	probably damaging	Het
Pkd1l3	A	G	8: 110,374,893 (GRCm39)		probably null	Het
Plcz1	A	T	6: 139,968,882 (GRCm39)	D185E	probably damaging	Het
Plekhg5	C	A	4: 152,196,985 (GRCm39)	Q757K	possibly damaging	Het
Prr23a2	T	A	9: 98,739,027 (GRCm39)	D128E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,416,712 (GRCm39)		probably null	Het
Sh3bp5	C	T	14: 31,100,246 (GRCm39)	V221M	probably benign	Het
Slc25a27	A	T	17: 43,975,083 (GRCm39)	D59E	probably benign	Het
Slc35e1	G	C	8: 73,246,358 (GRCm39)	R25G	unknown	Het
Slc4a4	T	C	5: 89,318,610 (GRCm39)	V626A	probably benign	Het
Slfn5	T	C	11: 82,847,529 (GRCm39)	L138P	probably damaging	Het
Stat1	A	G	1: 52,165,780 (GRCm39)		probably null	Het
Tnks2	G	T	19: 36,829,936 (GRCm39)	A206S	probably damaging	Het
Trav7-1	C	A	14: 52,892,521 (GRCm39)	Q25K	probably benign	Het
Ttn	A	G	2: 76,728,670 (GRCm39)	M5470T	unknown	Het
Vps35	A	T	8: 86,001,596 (GRCm39)	D407E	probably benign	Het
Wdr90	T	C	17: 26,079,676 (GRCm39)	D190G	probably benign	Het
Wdr93	T	A	7: 79,423,103 (GRCm39)	F456I	possibly damaging	Het
Wdr95	A	G	5: 149,529,758 (GRCm39)	E675G	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
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
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'- ATGGAGCCCTTGAAGAACCTC -3'
(R):5'- ATGTCCTCATCAGGGTCCTGTC -3'

Sequencing Primer
(F):5'- TTCCTCAAGAGCCCGCTG -3'
(R):5'- ACGGTAGACCTTGCCGAAG -3'

Posted On

2019-06-26