Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00331:Mapk8ip1'

7113

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mapk8ip1

Ensembl Gene

ENSMUSG00000027223

Gene Name

mitogen-activated protein kinase 8 interacting protein 1

Synonyms

MAPK8IP1, IB1, Jip1, mjip-2a, Prkm8ip, Skip, JIP-1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

92383676-92401263 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92385188 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 614 (V614I)

Ref Sequence

ENSEMBL: ENSMUSP00000050773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028650] [ENSMUST00000050312] [ENSMUST00000054316] [ENSMUST00000111279] [ENSMUST00000111280] [ENSMUST00000191292]

PDB Structure

Structural basis for the selective inhibition of JNK1 by the scaffolding protein JIP1 and SP600125 [X-RAY DIFFRACTION]
Structural basis for the selective inhibition of JNK1 by the scaffolding protein JIP1 and SP600125 [X-RAY DIFFRACTION]
Crystal Structure of JNK1-alpha1 isoform [X-RAY DIFFRACTION]
Crystal Structure of JNK1-alpha1 isoform complex with a biaryl tetrazol (A-82118) [X-RAY DIFFRACTION]
Structural and functional analysis of quercetagetin, a natural JNK1 inhibitor [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028650

SMART Domains

Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222

Domain	Start	End	E-Value	Type
Pfam:Pex16	9	329	1.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050312
AA Change: V614I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
AA Change: V614I

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
low complexity region	38	51	N/A	INTRINSIC
low complexity region	71	87	N/A	INTRINSIC
low complexity region	98	119	N/A	INTRINSIC
low complexity region	242	254	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
SH3	487	544	2.62e-11	SMART
PTB	558	700	1.2e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054316

SMART Domains

Protein: ENSMUSP00000051464
Gene: ENSMUSG00000044916

Domain	Start	End	E-Value	Type
Pfam:DUF4733	4	97	7.7e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111279
AA Change: V605I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
AA Change: V605I

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
low complexity region	62	78	N/A	INTRINSIC
low complexity region	89	110	N/A	INTRINSIC
low complexity region	233	245	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
SH3	478	535	2.62e-11	SMART
PTB	549	691	1.2e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111280

SMART Domains

Protein: ENSMUSP00000106911
Gene: ENSMUSG00000044916

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189714

Predicted Effect

probably benign
Transcript: ENSMUST00000191292

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous mutation of this gene results in a decreased susceptibility to ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,281,436		probably benign	Het
Adamts19	T	A	18: 59,007,325		probably benign	Het
Afg3l1	T	A	8: 123,487,389	F190I	probably benign	Het
Alms1	T	A	6: 85,641,371	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,415,517	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,267,014	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,088,934		probably null	Het
Chuk	T	C	19: 44,088,023	I416M	possibly damaging	Het
Dmbt1	A	T	7: 131,099,290	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,620	T3873A	probably damaging	Het
Endog	C	T	2: 30,172,900	T184M	probably damaging	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgbp	T	C	7: 28,101,541		probably benign	Het
Flii	A	G	11: 60,715,833	I1061T	probably benign	Het
Hdac2	T	A	10: 36,997,071	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,163,517	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,802,972	L263P	probably damaging	Het
Klf17	T	C	4: 117,761,038	T41A	probably benign	Het
Lrrfip1	T	C	1: 91,068,621	M42T	probably damaging	Het
Mocs1	T	G	17: 49,435,264		probably null	Het
Moxd1	T	C	10: 24,282,555		probably benign	Het
Mterf1a	T	C	5: 3,891,610	E86G	probably damaging	Het
Muc4	A	G	16: 32,753,185	D1021G	probably benign	Het
Nomo1	T	C	7: 46,045,336	S212P	possibly damaging	Het
Olfr1471	A	G	19: 13,445,624	D204G	probably benign	Het
Olfr893	T	A	9: 38,209,238	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,348,029	T385P	probably damaging	Het
Piwil4	A	T	9: 14,715,031		probably benign	Het
Pknox1	T	C	17: 31,599,645		probably null	Het
Prr14l	T	C	5: 32,831,066	I362V	probably benign	Het
Sergef	C	T	7: 46,635,420		probably null	Het
Sez6l	T	C	5: 112,424,645	D948G	probably damaging	Het
Skor1	A	T	9: 63,146,441	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086	Q87*	probably null	Het
Syde2	A	G	3: 146,014,341	K772E	possibly damaging	Het
Taf2	T	A	15: 55,071,449		probably null	Het
Tbc1d13	T	A	2: 30,140,511	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,684,415	F91L	probably benign	Het
Tmem63a	A	G	1: 180,966,497	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,985,994	N712K	possibly damaging	Het
Trip12	A	T	1: 84,730,541	D603E	probably damaging	Het
Trmt11	T	C	10: 30,566,449	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,754,533	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,155,773	H33R	probably benign	Het
Zfp207	A	G	11: 80,389,002	D111G	probably benign	Het

Other mutations in Mapk8ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Mapk8ip1	APN	2	92388974	critical splice donor site	probably null
IGL02089:Mapk8ip1	APN	2	92385875	missense	probably damaging	1.00
IGL02177:Mapk8ip1	APN	2	92386747	missense	probably damaging	1.00
IGL03032:Mapk8ip1	APN	2	92386613	missense	probably damaging	1.00
IGL03180:Mapk8ip1	APN	2	92386912	missense	possibly damaging	0.91
R0243:Mapk8ip1	UTSW	2	92385944	missense	probably damaging	1.00
R0483:Mapk8ip1	UTSW	2	92385976	splice site	probably null
R0515:Mapk8ip1	UTSW	2	92387356	missense	possibly damaging	0.71
R2016:Mapk8ip1	UTSW	2	92391034	critical splice donor site	probably null
R2017:Mapk8ip1	UTSW	2	92391034	critical splice donor site	probably null
R5141:Mapk8ip1	UTSW	2	92386765	missense	probably damaging	1.00
R5858:Mapk8ip1	UTSW	2	92384972	missense	probably damaging	1.00
R6194:Mapk8ip1	UTSW	2	92389244	missense	probably damaging	0.98
R6243:Mapk8ip1	UTSW	2	92389244	missense	probably damaging	0.98
R6244:Mapk8ip1	UTSW	2	92389244	missense	probably damaging	0.98
R6245:Mapk8ip1	UTSW	2	92389244	missense	probably damaging	0.98
R6984:Mapk8ip1	UTSW	2	92386727	missense	probably damaging	1.00
R7471:Mapk8ip1	UTSW	2	92389144	missense	probably benign
R7588:Mapk8ip1	UTSW	2	92386639	missense	possibly damaging	0.77
R7810:Mapk8ip1	UTSW	2	92389151	missense	probably benign	0.05
X0023:Mapk8ip1	UTSW	2	92386601	missense	possibly damaging	0.75

Posted On

2012-04-20