Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01092:Map3k13'

52910

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 #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

21794346-21933439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21928016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 950 (T950S)

Ref Sequence

ENSEMBL: ENSMUSP00000156202 (fasta)

Gene Model

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

AlphaFold

Q1HKZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000042065
AA Change: T950S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: T950S

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: T950S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232240
AA Change: T950S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,529,946	R335G	probably damaging	Het
Atad2b	C	T	12: 5,017,987	S995L	probably damaging	Het
Atrn	A	T	2: 130,947,636	R340*	probably null	Het
Ccdc83	A	T	7: 90,247,105	D85E	probably benign	Het
Chd2	A	T	7: 73,441,686	H1602Q	possibly damaging	Het
Cog2	A	G	8: 124,545,280	D511G	probably damaging	Het
Col4a4	G	T	1: 82,466,545	P1334T	unknown	Het
Creb3l4	T	C	3: 90,237,738	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,919,948	K563R	probably benign	Het
Dbi	T	C	1: 120,113,477	K131E	probably benign	Het
Edn1	A	G	13: 42,303,671	D60G	probably damaging	Het
Erbin	T	C	13: 103,834,012	N1032S	probably damaging	Het
Ero1l	T	C	14: 45,303,586	D107G	probably benign	Het
Glmn	A	T	5: 107,578,512		probably null	Het
Grxcr1	T	C	5: 68,110,562		probably benign	Het
Itih3	T	A	14: 30,909,781	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,580,507	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,750,947	C3495Y	probably damaging	Het
Me1	A	T	9: 86,598,748	V348D	probably damaging	Het
Morc2a	T	C	11: 3,684,042	V718A	probably benign	Het
Myh7	T	C	14: 54,971,632	E1883G	possibly damaging	Het
Olfr1338	T	A	4: 118,753,762	I259F	possibly damaging	Het
Olfr913	T	G	9: 38,594,905	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,680,181		probably benign	Het
Plcb3	T	A	19: 6,955,322	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,453,860		probably benign	Het
Prkd1	T	C	12: 50,383,515		probably benign	Het
Rwdd4a	C	T	8: 47,544,112	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,977,480	C251G	probably damaging	Het
Siglec1	A	T	2: 131,079,217	I678N	probably damaging	Het
Snrnp70	T	C	7: 45,377,377	D215G	probably damaging	Het
Ston1	A	G	17: 88,644,443	E674G	probably benign	Het
Tbl3	A	T	17: 24,705,252	I177N	probably damaging	Het
Tbl3	T	C	17: 24,701,905		probably benign	Het
Tnrc6c	T	C	11: 117,721,985	V483A	probably 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
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
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

2013-06-21