Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01997:Map2k7'

182116

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map2k7

Ensembl Gene

ENSMUSG00000002948

Gene Name

mitogen-activated protein kinase kinase 7

Synonyms

Prkmk7, sek2, MAP kinase kinase 7, 5930412N11Rik, MKK7, Jnkk2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01997

Quality Score

Status

Chromosome

Chromosomal Location

4288740-4297897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4293442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 104 (E104G)

Ref Sequence

ENSEMBL: ENSMUSP00000117418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000062686] [ENSMUST00000110993] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000110996] [ENSMUST00000110998] [ENSMUST00000145165] [ENSMUST00000110999] [ENSMUST00000129866]

AlphaFold

Q8CE90

Predicted Effect

probably benign
Transcript: ENSMUST00000003027
AA Change: E104G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948
AA Change: E104G

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART
low complexity region	435	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062686
AA Change: E104G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948
AA Change: E104G

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110993

SMART Domains

Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
Pfam:Zona_pellucida	16	161	6.6e-15	PFAM
low complexity region	210	224	N/A	INTRINSIC
low complexity region	227	263	N/A	INTRINSIC
low complexity region	269	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110994
AA Change: E15G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948
AA Change: E15G

Domain	Start	End	E-Value	Type
S_TKc	47	307	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110995
AA Change: E15G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948
AA Change: E15G

Domain	Start	End	E-Value	Type
S_TKc	47	307	8.43e-72	SMART
low complexity region	346	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110996
AA Change: E60G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106624
Gene: ENSMUSG00000002948
AA Change: E60G

Domain	Start	End	E-Value	Type
low complexity region	25	45	N/A	INTRINSIC
S_TKc	92	352	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110998
AA Change: E88G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948
AA Change: E88G

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
S_TKc	120	380	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145165
AA Change: E104G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061
AA Change: E104G

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110999
AA Change: E88G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948
AA Change: E88G

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
S_TKc	120	380	8.43e-72	SMART
low complexity region	419	439	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129537

Predicted Effect

probably benign
Transcript: ENSMUST00000129866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207247

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 dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die during embryogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	G	A	1: 179,583,027 (GRCm39)	T83I	probably damaging	Het
Aoah	A	T	13: 21,184,108 (GRCm39)	M391L	probably benign	Het
Apc	A	G	18: 34,448,476 (GRCm39)	T1757A	probably benign	Het
B4galt5	A	G	2: 167,143,261 (GRCm39)	Y388H	probably benign	Het
Cyp3a25	A	T	5: 145,931,766 (GRCm39)	M114K	possibly damaging	Het
Dcbld1	A	G	10: 52,193,206 (GRCm39)	E246G	probably damaging	Het
Fstl4	T	A	11: 53,053,881 (GRCm39)	Y404*	probably null	Het
Gnat3	G	T	5: 18,204,721 (GRCm39)	E125*	probably null	Het
Hspa5	C	T	2: 34,662,327 (GRCm39)		probably benign	Het
Krt72	A	G	15: 101,693,315 (GRCm39)	S200P	probably damaging	Het
Mab21l3	G	A	3: 101,725,955 (GRCm39)	T347I	probably damaging	Het
Map3k9	T	C	12: 81,819,471 (GRCm39)	D261G	probably damaging	Het
Mepe	C	T	5: 104,485,466 (GRCm39)	P202L	probably damaging	Het
Mill1	G	A	7: 17,989,814 (GRCm39)	G32D	probably damaging	Het
Mmp20	T	G	9: 7,639,261 (GRCm39)	M143R	probably benign	Het
Mms19	A	T	19: 41,944,970 (GRCm39)	L302H	probably damaging	Het
Myh13	T	A	11: 67,257,992 (GRCm39)	I1728K	probably benign	Het
Nsun2	C	T	13: 69,771,365 (GRCm39)	P290L	probably damaging	Het
Nwd2	A	T	5: 63,961,938 (GRCm39)	R507S	probably damaging	Het
Os9	T	A	10: 126,955,312 (GRCm39)	H147L	probably benign	Het
Piezo1	T	C	8: 123,215,070 (GRCm39)		probably benign	Het
Plekhf1	A	T	7: 37,920,752 (GRCm39)	V272D	probably damaging	Het
Pnisr	T	C	4: 21,871,537 (GRCm39)	I419T	possibly damaging	Het
Ppp1r3d	G	T	2: 178,055,447 (GRCm39)	T185K	possibly damaging	Het
Ppp2r2a	C	T	14: 67,253,968 (GRCm39)	S400N	probably benign	Het
Rpl21	T	C	5: 146,772,418 (GRCm39)	I96T	probably benign	Het
S1pr3	C	T	13: 51,573,751 (GRCm39)	R311W	probably damaging	Het
Senp5	T	C	16: 31,782,288 (GRCm39)	K736R	probably damaging	Het
Slfn9	T	C	11: 82,878,503 (GRCm39)	I209V	possibly damaging	Het
Traf3ip1	T	A	1: 91,435,292 (GRCm39)		probably null	Het
Tyk2	A	G	9: 21,021,790 (GRCm39)	F879L	probably damaging	Het
Vmn2r53	T	C	7: 12,316,373 (GRCm39)	D482G	possibly damaging	Het
Vmn2r65	A	G	7: 84,589,978 (GRCm39)	F646S	probably damaging	Het
Vps13b	T	A	15: 35,709,370 (GRCm39)	S1772R	probably damaging	Het
Vwde	C	T	6: 13,215,705 (GRCm39)	C117Y	probably damaging	Het
Zfyve26	T	C	12: 79,291,174 (GRCm39)	I2144V	probably benign	Het

Other mutations in Map2k7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02024:Map2k7	APN	8	4,297,663 (GRCm39)	missense	possibly damaging	0.61
IGL02086:Map2k7	APN	8	4,288,950 (GRCm39)	missense	probably damaging	1.00
IGL02150:Map2k7	APN	8	4,293,818 (GRCm39)	missense	possibly damaging	0.49
R1583:Map2k7	UTSW	8	4,293,621 (GRCm39)	critical splice donor site	probably null
R1916:Map2k7	UTSW	8	4,295,795 (GRCm39)	missense	probably benign	0.19
R2996:Map2k7	UTSW	8	4,293,775 (GRCm39)	missense	probably benign	0.04
R4014:Map2k7	UTSW	8	4,297,663 (GRCm39)	missense	possibly damaging	0.61
R4868:Map2k7	UTSW	8	4,297,751 (GRCm39)	intron	probably benign
R5357:Map2k7	UTSW	8	4,294,461 (GRCm39)	missense	probably damaging	1.00
R5768:Map2k7	UTSW	8	4,295,757 (GRCm39)	missense	probably benign	0.01
R6997:Map2k7	UTSW	8	4,294,035 (GRCm39)	missense	possibly damaging	0.68
R7814:Map2k7	UTSW	8	4,293,744 (GRCm39)	missense	probably benign	0.02
R8193:Map2k7	UTSW	8	4,294,059 (GRCm39)	missense	probably benign	0.16
R8855:Map2k7	UTSW	8	4,293,594 (GRCm39)	missense	probably damaging	1.00
R9455:Map2k7	UTSW	8	4,293,957 (GRCm39)	missense	probably damaging	0.99
R9708:Map2k7	UTSW	8	4,295,806 (GRCm39)	missense	probably benign	0.33

Posted On

2014-05-07