Mutagenetix > Incidental Mutations

Incidental Mutation 'R4631:Map3k11'

349235

Institutional Source

Beutler Lab

Gene Symbol

Map3k11

Ensembl Gene

ENSMUSG00000004054

Gene Name

mitogen-activated protein kinase kinase kinase 11

Synonyms

Mlk3, 2610017K16Rik

MMRRC Submission

041896-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R4631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5689131-5702862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5690913 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 223 (I223V)

Ref Sequence

ENSEMBL: ENSMUSP00000004156 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000004156
AA Change: I223V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
AA Change: I223V

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

0.1366

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,257,987	L368Q	probably damaging	Het
Abcc2	C	T	19: 43,814,707	P661S	possibly damaging	Het
Adgre4	T	G	17: 55,814,305	M457R	probably null	Het
Ank	C	A	15: 27,467,090	F29L	probably benign	Het
Arhgap20	T	C	9: 51,840,353		probably benign	Het
Atf6	T	C	1: 170,747,197		probably null	Het
Bod1l	A	G	5: 41,817,735	F2079L	probably damaging	Het
Cd163	T	C	6: 124,329,086	*1122Q	probably null	Het
Ces2g	T	C	8: 104,967,462		probably null	Het
Cntnap3	A	G	13: 64,778,883	Y558H	probably benign	Het
Ctsm	T	A	13: 61,537,696	S301C	probably null	Het
Dlc1	A	C	8: 36,937,558		probably null	Het
Dlg2	A	T	7: 92,088,614	I435F	probably damaging	Het
Dnah5	T	C	15: 28,401,953	V3420A	probably damaging	Het
Dnah5	T	A	15: 28,419,994	Y3813N	probably damaging	Het
Dnajc13	A	G	9: 104,190,417	M1181T	probably damaging	Het
Drc3	C	A	11: 60,364,908	T107N	probably benign	Het
Dydc2	T	C	14: 41,049,329	E131G	probably benign	Het
Eif5b	T	C	1: 38,041,747	V723A	probably damaging	Het
Fndc9	C	A	11: 46,237,848	H65N	possibly damaging	Het
Fzd1	A	T	5: 4,755,865	Y572*	probably null	Het
Gm1966	A	G	7: 106,599,523		noncoding transcript	Het
Gm38394	A	T	1: 133,658,744	V285E	probably damaging	Het
Gm5096	G	A	18: 87,756,401	R16H	probably damaging	Het
Gps1	T	A	11: 120,788,239		probably null	Het
Kazn	G	A	4: 142,118,160		probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnip1	T	A	11: 33,992,821		noncoding transcript	Het
Kif19a	A	G	11: 114,784,847	I382V	possibly damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Malsu1	A	T	6: 49,084,533	E177V	probably damaging	Het
Man2a2	A	G	7: 80,362,463	F649L	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Myh9	T	G	15: 77,797,028	D164A	probably damaging	Het
Myo16	T	C	8: 10,506,984	I1040T	probably damaging	Het
Myo18b	C	T	5: 112,846,400	A896T	probably damaging	Het
Myocd	G	T	11: 65,178,859	N798K	probably benign	Het
Olfr1206	C	T	2: 88,864,830	T75I	probably benign	Het
Olfr1288	T	A	2: 111,479,563	W260R	probably damaging	Het
Olfr1458	T	A	19: 13,103,272	I11F	probably benign	Het
Olfr156	T	C	4: 43,820,563	D266G	probably benign	Het
Olfr168	G	A	16: 19,530,141	R260*	probably null	Het
Olfr353	T	G	2: 36,890,618	T77P	probably benign	Het
Olfr68	A	T	7: 103,777,475	L290Q	probably damaging	Het
Pcdh18	T	A	3: 49,756,441	I142F	probably damaging	Het
Pcyox1	T	C	6: 86,389,143	D363G	probably benign	Het
Pcyox1	T	C	6: 86,389,230	E334G	possibly damaging	Het
Pgm1	A	G	5: 64,105,947		probably null	Het
Plagl1	T	G	10: 13,127,999		probably benign	Het
Ppp1r9a	A	G	6: 4,906,537	D364G	possibly damaging	Het
Rab2b	T	A	14: 52,266,242	H141L	possibly damaging	Het
Rev3l	A	G	10: 39,828,416	K279E	probably benign	Het
Rnf111	G	T	9: 70,450,396	T607N	probably benign	Het
Scn8a	C	A	15: 101,016,503	S1130*	probably null	Het
Selenbp1	A	G	3: 94,944,568	*473W	probably null	Het
Sh3bp4	A	C	1: 89,144,273	D281A	probably damaging	Het
Skint5	T	A	4: 113,629,117		probably null	Het
Slc1a4	A	G	11: 20,308,452	L249P	probably damaging	Het
Slc45a2	T	A	15: 11,012,576	S222T	probably benign	Het
Slc7a4	A	G	16: 17,574,391	F393S	probably damaging	Het
Slc9a2	A	T	1: 40,761,918	D536V	possibly damaging	Het
Stra6	T	A	9: 58,140,832		probably benign	Het
Tmem145	A	G	7: 25,307,825	D156G	probably benign	Het
Tns3	A	C	11: 8,451,119	F1060V	probably benign	Het
Trak1	G	A	9: 121,454,425	R419Q	probably benign	Het
Trappc8	A	G	18: 20,867,808	S273P	probably benign	Het
Trmt11	A	G	10: 30,559,204	S320P	probably benign	Het
Ugt1a6a	A	T	1: 88,139,258	Y262F	probably benign	Het
Vmn1r73	G	A	7: 11,756,831	C192Y	probably benign	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Vmn2r25	T	A	6: 123,853,003	D63V	possibly damaging	Het
Vps13b	C	T	15: 35,646,132	H1461Y	possibly damaging	Het
Ythdc2	A	T	18: 44,887,631	E1427D	probably benign	Het
Zbtb26	A	G	2: 37,436,956	F23L	probably benign	Het
Zfp62	T	A	11: 49,217,805	*908R	probably null	Het
Zfp975	A	T	7: 42,662,945	N81K	probably benign	Het
Zkscan16	G	A	4: 58,951,918	V198M	probably damaging	Het

Other mutations in Map3k11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Map3k11	APN	19	5697623	missense	possibly damaging	0.91
IGL02581:Map3k11	APN	19	5700806	missense	probably benign
R0130:Map3k11	UTSW	19	5690815	missense	probably damaging	1.00
R0193:Map3k11	UTSW	19	5695846	missense	probably damaging	0.99
R1621:Map3k11	UTSW	19	5690806	missense	probably damaging	1.00
R1736:Map3k11	UTSW	19	5697401	missense	probably benign	0.34
R1791:Map3k11	UTSW	19	5695572	nonsense	probably null
R3500:Map3k11	UTSW	19	5690247	start codon destroyed	probably benign	0.08
R3836:Map3k11	UTSW	19	5690803	missense	possibly damaging	0.71
R3892:Map3k11	UTSW	19	5702283	missense	probably benign	0.13
R4303:Map3k11	UTSW	19	5690824	missense	probably damaging	1.00
R4513:Map3k11	UTSW	19	5702210	missense	probably damaging	0.97
R4613:Map3k11	UTSW	19	5697470	missense	probably benign	0.18
R4613:Map3k11	UTSW	19	5697471	missense	probably damaging	0.98
R4780:Map3k11	UTSW	19	5690938	missense	probably damaging	0.99
R5213:Map3k11	UTSW	19	5690641	missense	probably damaging	0.99
R5266:Map3k11	UTSW	19	5700594	missense	probably benign	0.03
R5372:Map3k11	UTSW	19	5690962	missense	probably damaging	1.00
R5736:Map3k11	UTSW	19	5696711	missense	probably damaging	1.00
R5899:Map3k11	UTSW	19	5695909	critical splice donor site	probably null
R6052:Map3k11	UTSW	19	5697402	missense	probably benign	0.01
R6388:Map3k11	UTSW	19	5690251	missense	probably damaging	0.96
R6623:Map3k11	UTSW	19	5695603	missense	probably damaging	0.97
R6975:Map3k11	UTSW	19	5690727	missense	possibly damaging	0.91
R7309:Map3k11	UTSW	19	5690458	missense	probably damaging	0.99
R7771:Map3k11	UTSW	19	5690608	missense	probably damaging	0.99
R7815:Map3k11	UTSW	19	5695639	missense	possibly damaging	0.89
X0025:Map3k11	UTSW	19	5696195	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAGAGTGTTCGACAGGAG -3'
(R):5'- TCTCAGGAAGGAGCTTGTGAG -3'

Sequencing Primer
(F):5'- CAGGAGGCCCGGCTTTTTG -3'
(R):5'- ATCTCCCTAACTAGGCTCAGCTGAG -3'

Posted On

2015-10-08