Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00977:Map3k13'

29199

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k13

Ensembl Gene

ENSMUSG00000033618

Gene Name

mitogen-activated protein kinase kinase kinase 13

Synonyms

C130026N12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00977

Quality Score

Status

Chromosome

Chromosomal Location

21643923-21752189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21740514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 614 (S614P)

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: S614P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: S614P

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 benign
Transcript: ENSMUST00000231988
AA Change: S614P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000232240
AA Change: S614P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,284 (GRCm39)	F3619L	probably damaging	Het
Asic5	T	A	3: 81,911,953 (GRCm39)	V183E	possibly damaging	Het
Atp2b1	T	C	10: 98,822,837 (GRCm39)	V164A	possibly damaging	Het
Bend3	A	G	10: 43,386,945 (GRCm39)	Q446R	possibly damaging	Het
Ccdc80	C	A	16: 44,916,627 (GRCm39)	T461K	probably benign	Het
Cep350	T	A	1: 155,808,611 (GRCm39)	E655V	probably null	Het
Chi3l1	T	C	1: 134,115,711 (GRCm39)	F232L	possibly damaging	Het
Degs1	T	A	1: 182,106,774 (GRCm39)	I162F	probably benign	Het
Dhdds	A	T	4: 133,727,571 (GRCm39)		probably benign	Het
Herc4	A	T	10: 63,147,346 (GRCm39)	Y821F	probably damaging	Het
Hpf1	A	G	8: 61,358,753 (GRCm39)	H303R	probably benign	Het
Kcnk10	A	T	12: 98,484,792 (GRCm39)	C115S	probably damaging	Het
Me2	A	T	18: 73,924,248 (GRCm39)	N321K	probably benign	Het
Med16	A	T	10: 79,743,459 (GRCm39)	M1K	probably null	Het
Mycbp2	A	G	14: 103,410,078 (GRCm39)	F2651L	probably damaging	Het
Prrc2b	C	T	2: 32,103,822 (GRCm39)	T1100I	probably benign	Het
Scn9a	T	A	2: 66,314,645 (GRCm39)	Q1680L	probably damaging	Het
Sh3rf2	A	G	18: 42,244,283 (GRCm39)	T250A	probably benign	Het
Sting1	C	T	18: 35,867,620 (GRCm39)	E359K	probably damaging	Het
Tpp2	T	C	1: 44,022,451 (GRCm39)	F950L	possibly damaging	Het
Vmn2r129	C	A	4: 156,686,491 (GRCm39)		noncoding transcript	Het

Other mutations in Map3k13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Map3k13	APN	16	21,746,766 (GRCm39)	missense	probably damaging	0.97
IGL01958:Map3k13	APN	16	21,710,873 (GRCm39)	missense	probably benign
IGL02444:Map3k13	APN	16	21,732,982 (GRCm39)	missense	probably benign	0.19
IGL02503:Map3k13	APN	16	21,727,454 (GRCm39)	missense	possibly damaging	0.50
IGL02712:Map3k13	APN	16	21,724,005 (GRCm39)	missense	probably damaging	0.99
IGL03342:Map3k13	APN	16	21,710,981 (GRCm39)	missense	possibly damaging	0.94
R0086:Map3k13	UTSW	16	21,732,975 (GRCm39)	missense	probably damaging	0.98
R0124:Map3k13	UTSW	16	21,722,506 (GRCm39)	missense	possibly damaging	0.95
R0281:Map3k13	UTSW	16	21,732,907 (GRCm39)	missense	probably damaging	1.00
R0308:Map3k13	UTSW	16	21,710,738 (GRCm39)	missense	probably benign
R0601:Map3k13	UTSW	16	21,723,999 (GRCm39)	missense	possibly damaging	0.95
R0669:Map3k13	UTSW	16	21,725,274 (GRCm39)	missense	probably benign	0.03
R0918:Map3k13	UTSW	16	21,744,990 (GRCm39)	missense	probably damaging	1.00
R1641:Map3k13	UTSW	16	21,722,542 (GRCm39)	missense	probably damaging	1.00
R1838:Map3k13	UTSW	16	21,732,939 (GRCm39)	missense	possibly damaging	0.92
R1891:Map3k13	UTSW	16	21,729,836 (GRCm39)	missense	probably damaging	1.00
R2125:Map3k13	UTSW	16	21,710,894 (GRCm39)	missense	probably benign	0.01
R2332:Map3k13	UTSW	16	21,717,427 (GRCm39)	splice site	probably null
R2361:Map3k13	UTSW	16	21,725,286 (GRCm39)	missense	probably benign	0.05
R4395:Map3k13	UTSW	16	21,717,321 (GRCm39)	missense	possibly damaging	0.49
R4505:Map3k13	UTSW	16	21,740,928 (GRCm39)	missense	probably benign	0.00
R4506:Map3k13	UTSW	16	21,740,928 (GRCm39)	missense	probably benign	0.00
R4521:Map3k13	UTSW	16	21,724,525 (GRCm39)	missense	possibly damaging	0.94
R4753:Map3k13	UTSW	16	21,710,752 (GRCm39)	missense	probably benign
R4952:Map3k13	UTSW	16	21,729,769 (GRCm39)	missense	probably benign	0.15
R5035:Map3k13	UTSW	16	21,740,421 (GRCm39)	missense	probably benign	0.03
R5327:Map3k13	UTSW	16	21,740,397 (GRCm39)	missense	possibly damaging	0.89
R5784:Map3k13	UTSW	16	21,717,391 (GRCm39)	missense	possibly damaging	0.68
R5831:Map3k13	UTSW	16	21,746,798 (GRCm39)	makesense	probably null
R5996:Map3k13	UTSW	16	21,723,995 (GRCm39)	missense	possibly damaging	0.95
R6007:Map3k13	UTSW	16	21,723,933 (GRCm39)	missense	possibly damaging	0.95
R6546:Map3k13	UTSW	16	21,740,527 (GRCm39)	missense	probably benign	0.15
R6620:Map3k13	UTSW	16	21,711,061 (GRCm39)	missense	possibly damaging	0.62
R6683:Map3k13	UTSW	16	21,711,062 (GRCm39)	missense	probably benign	0.32
R6692:Map3k13	UTSW	16	21,723,987 (GRCm39)	missense	possibly damaging	0.66
R6695:Map3k13	UTSW	16	21,741,028 (GRCm39)	missense	probably benign	0.10
R6743:Map3k13	UTSW	16	21,711,173 (GRCm39)	missense	probably damaging	0.98
R6822:Map3k13	UTSW	16	21,741,013 (GRCm39)	missense	probably benign	0.00
R6965:Map3k13	UTSW	16	21,740,900 (GRCm39)	missense	probably benign
R7149:Map3k13	UTSW	16	21,744,187 (GRCm39)	missense	probably benign	0.04
R7174:Map3k13	UTSW	16	21,745,006 (GRCm39)	missense	probably damaging	1.00
R7256:Map3k13	UTSW	16	21,710,988 (GRCm39)	missense	probably benign	0.03
R7400:Map3k13	UTSW	16	21,741,072 (GRCm39)	missense	probably damaging	1.00
R7733:Map3k13	UTSW	16	21,740,436 (GRCm39)	missense	probably damaging	1.00
R7848:Map3k13	UTSW	16	21,724,621 (GRCm39)	missense	probably damaging	0.98
R7871:Map3k13	UTSW	16	21,740,346 (GRCm39)	missense	probably benign	0.09
R7876:Map3k13	UTSW	16	21,741,069 (GRCm39)	missense	probably benign	0.00
R8002:Map3k13	UTSW	16	21,723,878 (GRCm39)	missense	probably benign	0.05
R8089:Map3k13	UTSW	16	21,722,567 (GRCm39)	missense	possibly damaging	0.48
R8341:Map3k13	UTSW	16	21,740,334 (GRCm39)	nonsense	probably null
R8738:Map3k13	UTSW	16	21,745,008 (GRCm39)	missense	probably damaging	1.00
R8940:Map3k13	UTSW	16	21,727,454 (GRCm39)	missense	possibly damaging	0.50
R8949:Map3k13	UTSW	16	21,723,882 (GRCm39)	missense	probably benign	0.05
R9391:Map3k13	UTSW	16	21,740,665 (GRCm39)	missense	probably benign	0.00
R9749:Map3k13	UTSW	16	21,740,581 (GRCm39)	missense	probably benign	0.00
R9802:Map3k13	UTSW	16	21,740,518 (GRCm39)	missense	possibly damaging	0.85
Z1176:Map3k13	UTSW	16	21,723,912 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17