Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Map3k13'

181449

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k13

Ensembl Gene

ENSMUSG00000033618

Gene Name

mitogen-activated protein kinase kinase kinase 13

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

21794346-21933439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21892123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 52 (Q52R)

Ref Sequence

ENSEMBL: ENSMUSP00000156202 (fasta)

Gene Model

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

AlphaFold

Q1HKZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000042065
AA Change: Q52R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: Q52R

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

noncoding transcript
Transcript: ENSMUST00000171547

Predicted Effect

probably benign
Transcript: ENSMUST00000231988
AA Change: Q52R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000232240
AA Change: Q52R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	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
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
R7400:Map3k13	UTSW	16	21922322	missense	probably damaging	1.00
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

Posted On

2014-05-07