Mutagenetix > Incidental Mutation

Incidental Mutation 'R7400:Map3k13'

574129

Institutional Source

Beutler Lab

Gene Symbol

Map3k13

Ensembl Gene

ENSMUSG00000033618

Gene Name

mitogen-activated protein kinase kinase kinase 13

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7400 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21794346-21933439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21922322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 800 (R800W)

Ref Sequence

ENSEMBL: ENSMUSP00000047388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042065] [ENSMUST00000231988] [ENSMUST00000232240]

AlphaFold

Q1HKZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000042065
AA Change: R800W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: R800W

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
low complexity region	119	137	N/A	INTRINSIC
Pfam:Pkinase	167	406	3.1e-60	PFAM
Pfam:Pkinase_Tyr	167	406	2.4e-65	PFAM
coiled coil region	456	502	N/A	INTRINSIC
low complexity region	578	599	N/A	INTRINSIC
low complexity region	632	649	N/A	INTRINSIC
low complexity region	805	821	N/A	INTRINSIC
low complexity region	833	843	N/A	INTRINSIC
low complexity region	932	945	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000231988
AA Change: R800W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232240
AA Change: R800W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (69/71)

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 serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	A	9: 103,250,662	E690V	probably benign	Het
4932414N04Rik	T	C	2: 68,666,203	S118P	unknown	Het
Ahnak	T	A	19: 9,014,613	D4420E	probably damaging	Het
Atp5g2	C	T	15: 102,665,112	A90T	possibly damaging	Het
Batf2	A	G	19: 6,171,508	Y116C	probably damaging	Het
Cd48	G	A	1: 171,695,925	R112H	probably benign	Het
Cdh8	A	T	8: 99,279,560	Y132N	probably damaging	Het
Cfap70	A	C	14: 20,408,267	S793A	probably benign	Het
Cmip	A	G	8: 117,257,405		probably null	Het
Cyp1a2	T	C	9: 57,681,940	N197S	probably benign	Het
Diaph1	T	C	18: 37,854,502	D1067G	probably damaging	Het
Disp2	T	C	2: 118,791,886	L1033P	probably damaging	Het
Dock6	G	T	9: 21,801,807	A1981D	possibly damaging	Het
Eci3	T	C	13: 34,959,977	D55G	probably benign	Het
Eea1	T	A	10: 95,995,570	D174E	probably benign	Het
Ehd2	T	C	7: 15,950,656	E406G	possibly damaging	Het
Erich3	A	G	3: 154,762,577	K889E		Het
Fat4	C	A	3: 38,887,924	T322K	probably damaging	Het
Fitm1	A	T	14: 55,576,769	I241F	possibly damaging	Het
Fscb	C	A	12: 64,471,617	S1025I	unknown	Het
Gm4070	T	A	7: 105,902,040	I602F	probably benign	Het
Gpsm2	T	A	3: 108,679,688	D644V	probably damaging	Het
Gucy2d	C	A	7: 98,443,640	L75M	possibly damaging	Het
Hmcn1	T	C	1: 150,674,430	I2668V	probably damaging	Het
Hoxa7	A	G	6: 52,217,053	I118T	possibly damaging	Het
Hsp90ab1	A	G	17: 45,569,284	V473A	probably benign	Het
Ica1l	T	C	1: 60,042,642		probably null	Het
Ighv1-72	A	G	12: 115,758,217	S40P	probably damaging	Het
Kif28	A	C	1: 179,700,274	W771G	probably damaging	Het
Klf13	G	C	7: 63,938,248	A100G	probably benign	Het
Klhl5	A	G	5: 65,148,590	E300G	possibly damaging	Het
Krt40	A	G	11: 99,543,143	S6P	probably benign	Het
Mef2d	T	C	3: 88,167,731	L408P	possibly damaging	Het
Mmp10	T	A	9: 7,503,300	M87K	probably damaging	Het
Mrgprd	T	A	7: 145,321,906	H171Q	probably benign	Het
Muc1	C	T	3: 89,230,646	T265I	possibly damaging	Het
Myo15b	A	G	11: 115,860,113	N570D		Het
Nfs1	T	A	2: 156,126,323	I408F	probably damaging	Het
Npdc1	G	T	2: 25,406,245	C48F	probably damaging	Het
Olfr137	A	T	17: 38,305,331	N43K	possibly damaging	Het
Olfr459	A	T	6: 41,771,744	L185H	probably damaging	Het
Olfr592	T	C	7: 103,187,380	S260P	probably damaging	Het
Olfr676	T	C	7: 105,035,210	I4T	probably benign	Het
Osbpl2	T	C	2: 180,153,321	M332T	probably benign	Het
Ostm1	T	A	10: 42,698,217	V302D	probably damaging	Het
Otof	T	C	5: 30,385,188	D672G	probably benign	Het
Plekha6	A	T	1: 133,274,024	K392*	probably null	Het
Pnpla1	A	T	17: 28,858,976	D37V	probably damaging	Het
Rasgrp1	A	G	2: 117,298,545	S198P	probably damaging	Het
Reln	A	T	5: 21,971,934	N1911K	probably damaging	Het
Ripply3	C	A	16: 94,335,900	A140E	probably benign	Het
Siglec1	A	G	2: 131,086,095	C8R	possibly damaging	Het
Slamf6	T	C	1: 171,919,793	S41P	unknown	Het
Slc15a5	A	G	6: 138,073,057	M120T	probably benign	Het
Slc25a20	T	G	9: 108,681,973	D179E	possibly damaging	Het
Sltm	T	A	9: 70,586,070	V783E	probably damaging	Het
Smc1b	C	A	15: 85,069,720	R1116L	probably damaging	Het
Smim23	A	G	11: 32,824,471	V16A	probably benign	Het
Spata20	A	G	11: 94,483,400	V348A	probably benign	Het
Spen	T	C	4: 141,473,741	D2525G	probably damaging	Het
St14	A	C	9: 31,108,275	N83K	probably benign	Het
Stab1	T	C	14: 31,157,384	N713S	probably null	Het
Syne1	A	T	10: 5,218,580	L5267H	probably benign	Het
Tenm4	T	C	7: 96,694,803	L271P	probably damaging	Het
Tfap2d	C	T	1: 19,142,926	H325Y	possibly damaging	Het
Trav23	A	G	14: 53,977,563	R78G	probably benign	Het
Ttc39c	A	T	18: 12,643,799		probably benign	Het
Unc79	A	G	12: 103,104,630	D1228G	probably damaging	Het
Vmn1r66	T	A	7: 10,274,947	H53L	probably damaging	Het
Vps13b	A	T	15: 35,378,900	L53F	probably damaging	Het
Zfp532	C	T	18: 65,638,913	T834M	possibly damaging	Het

Other mutations in Map3k13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Map3k13	APN	16	21921764	missense	probably benign	0.00
IGL01092:Map3k13	APN	16	21928016	missense	probably damaging	0.97
IGL01958:Map3k13	APN	16	21892123	missense	probably benign
IGL02444:Map3k13	APN	16	21914232	missense	probably benign	0.19
IGL02503:Map3k13	APN	16	21908704	missense	possibly damaging	0.50
IGL02712:Map3k13	APN	16	21905255	missense	probably damaging	0.99
IGL03342:Map3k13	APN	16	21892231	missense	possibly damaging	0.94
R0086:Map3k13	UTSW	16	21914225	missense	probably damaging	0.98
R0124:Map3k13	UTSW	16	21903756	missense	possibly damaging	0.95
R0281:Map3k13	UTSW	16	21914157	missense	probably damaging	1.00
R0308:Map3k13	UTSW	16	21891988	missense	probably benign
R0601:Map3k13	UTSW	16	21905249	missense	possibly damaging	0.95
R0669:Map3k13	UTSW	16	21906524	missense	probably benign	0.03
R0918:Map3k13	UTSW	16	21926240	missense	probably damaging	1.00
R1641:Map3k13	UTSW	16	21903792	missense	probably damaging	1.00
R1838:Map3k13	UTSW	16	21914189	missense	possibly damaging	0.92
R1891:Map3k13	UTSW	16	21911086	missense	probably damaging	1.00
R2125:Map3k13	UTSW	16	21892144	missense	probably benign	0.01
R2332:Map3k13	UTSW	16	21898677	splice site	probably null
R2361:Map3k13	UTSW	16	21906536	missense	probably benign	0.05
R4395:Map3k13	UTSW	16	21898571	missense	possibly damaging	0.49
R4505:Map3k13	UTSW	16	21922178	missense	probably benign	0.00
R4506:Map3k13	UTSW	16	21922178	missense	probably benign	0.00
R4521:Map3k13	UTSW	16	21905775	missense	possibly damaging	0.94
R4753:Map3k13	UTSW	16	21892002	missense	probably benign
R4952:Map3k13	UTSW	16	21911019	missense	probably benign	0.15
R5035:Map3k13	UTSW	16	21921671	missense	probably benign	0.03
R5327:Map3k13	UTSW	16	21921647	missense	possibly damaging	0.89
R5784:Map3k13	UTSW	16	21898641	missense	possibly damaging	0.68
R5831:Map3k13	UTSW	16	21928048	makesense	probably null
R5996:Map3k13	UTSW	16	21905245	missense	possibly damaging	0.95
R6007:Map3k13	UTSW	16	21905183	missense	possibly damaging	0.95
R6546:Map3k13	UTSW	16	21921777	missense	probably benign	0.15
R6620:Map3k13	UTSW	16	21892311	missense	possibly damaging	0.62
R6683:Map3k13	UTSW	16	21892312	missense	probably benign	0.32
R6692:Map3k13	UTSW	16	21905237	missense	possibly damaging	0.66
R6695:Map3k13	UTSW	16	21922278	missense	probably benign	0.10
R6743:Map3k13	UTSW	16	21892423	missense	probably damaging	0.98
R6822:Map3k13	UTSW	16	21922263	missense	probably benign	0.00
R6965:Map3k13	UTSW	16	21922150	missense	probably benign
R7149:Map3k13	UTSW	16	21925437	missense	probably benign	0.04
R7174:Map3k13	UTSW	16	21926256	missense	probably damaging	1.00
R7256:Map3k13	UTSW	16	21892238	missense	probably benign	0.03
R7733:Map3k13	UTSW	16	21921686	missense	probably damaging	1.00
R7848:Map3k13	UTSW	16	21905871	missense	probably damaging	0.98
R7871:Map3k13	UTSW	16	21921596	missense	probably benign	0.09
R7876:Map3k13	UTSW	16	21922319	missense	probably benign	0.00
R8002:Map3k13	UTSW	16	21905128	missense	probably benign	0.05
R8089:Map3k13	UTSW	16	21903817	missense	possibly damaging	0.48
R8341:Map3k13	UTSW	16	21921584	nonsense	probably null
R8738:Map3k13	UTSW	16	21926258	missense	probably damaging	1.00
R8940:Map3k13	UTSW	16	21908704	missense	possibly damaging	0.50
R8949:Map3k13	UTSW	16	21905132	missense	probably benign	0.05
R9391:Map3k13	UTSW	16	21921915	missense	probably benign	0.00
R9749:Map3k13	UTSW	16	21921831	missense	probably benign	0.00
R9802:Map3k13	UTSW	16	21921768	missense	possibly damaging	0.85
Z1176:Map3k13	UTSW	16	21905162	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGTCTTTAGATGTTCCCAC -3'
(R):5'- AGGCCAGTAATCCGCCAAATG -3'

Sequencing Primer
(F):5'- TAGATGTTCCCACTACTGAGCCAG -3'
(R):5'- CCACCACTGAAGTGCTGTG -3'

Posted On

2019-09-13