Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Map3k11'

23277

Institutional Source

Beutler Lab

Gene Symbol

Map3k11

Ensembl Gene

ENSMUSG00000004054

Gene Name

mitogen-activated protein kinase kinase kinase 11

Synonyms

Mlk3, 2610017K16Rik

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.410) question?

Stock #

R0193 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5689131-5702862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5695846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 396 (M396K)

Ref Sequence

ENSEMBL: ENSMUSP00000004156 (fasta)

Gene Model

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

AlphaFold

Q80XI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000004156
AA Change: M396K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
AA Change: M396K

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

Meta Mutation Damage Score

0.4695

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,422,359	Q352L	probably damaging	Het
Adgrb1	T	C	15: 74,572,156	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,511,293		probably benign	Het
Atp2a3	G	T	11: 72,972,220	V99L	possibly damaging	Het
Atp6v0a1	T	A	11: 101,048,482	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,561,636	R525Q	probably benign	Het
Aurkb	A	G	11: 69,048,544	D151G	probably damaging	Het
Bank1	A	T	3: 136,066,518		probably benign	Het
Bcl9l	T	C	9: 44,507,406	L847P	probably damaging	Het
Bscl2	T	A	19: 8,847,429	M292K	probably benign	Het
Cacna1c	C	T	6: 118,602,402		probably benign	Het
Cadps2	T	C	6: 23,599,440	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,736,118	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803	E145K	probably benign	Het
Ccdc58	T	C	16: 36,082,814	S59P	probably damaging	Het
Ccno	C	T	13: 112,988,884		probably benign	Het
Cd300a	A	G	11: 114,893,376	D70G	probably benign	Het
Cenpc1	T	C	5: 86,032,403	D670G	probably benign	Het
Cenpl	A	G	1: 161,085,988	I323V	probably damaging	Het
Cfap44	A	G	16: 44,449,210		probably null	Het
Cfap74	C	T	4: 155,426,115	R386C	probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,412,316	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Coro7	G	A	16: 4,627,504		probably benign	Het
Dchs1	C	T	7: 105,764,983	R875H	probably benign	Het
Eif3j1	A	C	2: 122,052,027	M239L	probably benign	Het
Eif4g3	G	T	4: 138,146,376		probably benign	Het
Erbb4	T	C	1: 68,043,960		probably benign	Het
Erlin2	T	G	8: 27,031,764	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,161,883	Q393K	probably benign	Het
Fcgr4	A	T	1: 171,025,760	N178I	possibly damaging	Het
Grid2	A	G	6: 64,063,953	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,671,332	V126I	probably benign	Het
Htr1f	T	A	16: 64,926,749	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,481,339		probably null	Het
Impg2	A	T	16: 56,265,049	K931*	probably null	Het
Ints1	T	C	5: 139,751,730	E2176G	probably damaging	Het
Iqsec2	T	C	X: 152,223,403	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,410,724	D685E	probably damaging	Het
Itgbl1	G	A	14: 123,846,546	V279I	probably benign	Het
Kdm4b	C	T	17: 56,393,952	A541V	probably benign	Het
Kif14	A	T	1: 136,468,438	T161S	probably benign	Het
Krt86	T	C	15: 101,479,363		probably benign	Het
Kyat1	C	T	2: 30,187,186		probably null	Het
Limch1	T	C	5: 67,027,539	W791R	probably damaging	Het
Mat2a	A	G	6: 72,436,195		probably null	Het
Mbnl2	A	G	14: 120,379,237	I88V	possibly damaging	Het
Mib2	T	C	4: 155,655,673	T708A	probably benign	Het
Mkks	T	C	2: 136,877,606		probably null	Het
Mtss1	T	C	15: 58,944,017	M565V	probably damaging	Het
Myoc	A	G	1: 162,649,035	N436S	probably damaging	Het
Myod1	T	A	7: 46,377,112	V147E	probably damaging	Het
Ngef	A	G	1: 87,509,334	L144P	probably benign	Het
Ngrn	C	T	7: 80,261,930	R92W	probably damaging	Het
Nup153	G	A	13: 46,709,654	T349I	probably benign	Het
Olfr1211	T	A	2: 88,930,283	I11L	probably benign	Het
Olfr600	G	T	7: 103,346,204	S241R	possibly damaging	Het
Pigl	A	G	11: 62,503,748	I135M	probably damaging	Het
Pitpnm3	A	G	11: 72,070,492		probably benign	Het
Pkhd1	A	T	1: 20,358,917	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,320,076	T119M	probably damaging	Het
Prr29	A	G	11: 106,376,896	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 25,990,999	I1048V	probably damaging	Het
Rab12	G	A	17: 66,500,362	T124I	probably damaging	Het
Rab44	A	G	17: 29,140,307	S490G	probably benign	Het
Rasa3	A	G	8: 13,570,233		probably null	Het
Rhbdl3	C	T	11: 80,353,574	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,788,356	S643T	probably benign	Het
Rin1	T	G	19: 5,052,652	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,419,237	G28S	probably damaging	Het
Rtl9	T	A	X: 143,100,278	S229T	probably damaging	Het
Rufy1	G	T	11: 50,389,852	T701N	probably benign	Het
Scn4a	A	T	11: 106,320,538	L1551*	probably null	Het
Sec24b	T	C	3: 129,988,984	N1119S	probably null	Het
Serbp1	T	A	6: 67,272,884	*75R	probably null	Het
Setx	C	T	2: 29,179,673	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,359,314	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,352,684	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,121,843	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,313	D523V	possibly damaging	Het
Traf7	G	T	17: 24,510,551	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,544,617	V6F	probably damaging	Het
Tsacc	A	T	3: 88,287,088		probably benign	Het
Vmn2r5	A	G	3: 64,491,530	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,691,039	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,381,295	V487A	probably damaging	Het
Zfp287	A	T	11: 62,715,029	S351T	probably benign	Het
Zfp651	T	C	9: 121,767,666	V696A	probably damaging	Het
Zfp654	T	C	16: 64,785,688	H176R	possibly 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
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
R4631:Map3k11	UTSW	19	5690913	missense	probably benign	0.30
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
R8988:Map3k11	UTSW	19	5702138	missense	probably damaging	1.00
R9130:Map3k11	UTSW	19	5696010	missense	possibly damaging	0.69
R9502:Map3k11	UTSW	19	5690596	missense	probably damaging	1.00
X0025:Map3k11	UTSW	19	5696195	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCACAACTCATGGCTGGTAAGAGG -3'
(R):5'- TGGTCAAGGCACCAAAAGGCTAAAC -3'

Sequencing Primer
(F):5'- CTGGTAAGAGGATGGGGCTG -3'
(R):5'- TGCAGTAGCAGCGTCAG -3'

Posted On

2013-04-16