Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Mapk8ip1'

90087

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

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

92214021-92231608 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 92219319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106910 (fasta)

Gene Model

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

AlphaFold

Q9WVI9

Predicted Effect

probably null
Transcript: ENSMUST00000050312

SMART Domains

Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223

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 null
Transcript: ENSMUST00000111279

SMART Domains

Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223

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: ENSMUST00000183506

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,032 (GRCm39)		noncoding transcript	Het
Abca3	G	T	17: 24,595,447 (GRCm39)	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 25,102,495 (GRCm39)	N323D	possibly damaging	Het
Atp5f1c	T	C	2: 10,073,477 (GRCm39)	Y32C	probably damaging	Het
Capn3	T	G	2: 120,332,667 (GRCm39)		probably null	Het
Ccdc113	C	A	8: 96,277,866 (GRCm39)	D275E	probably benign	Het
Ccdc40	T	A	11: 119,133,545 (GRCm39)	F562I	possibly damaging	Het
Ccn6	A	G	10: 39,034,306 (GRCm39)	Y99H	probably damaging	Het
Cd96	T	C	16: 45,929,490 (GRCm39)	T152A	possibly damaging	Het
Cdh20	T	A	1: 109,988,870 (GRCm39)	D257E	probably damaging	Het
Cilp2	T	C	8: 70,333,854 (GRCm39)	D1048G	probably benign	Het
Clrn2	T	G	5: 45,617,408 (GRCm39)	L93R	probably damaging	Het
Crat	C	A	2: 30,299,978 (GRCm39)	G134V	probably damaging	Het
Dis3	A	T	14: 99,335,181 (GRCm39)	N140K	probably benign	Het
Dmxl2	T	A	9: 54,352,660 (GRCm39)		probably benign	Het
Dus1l	T	A	11: 120,683,905 (GRCm39)	Q181L	probably damaging	Het
Ece1	A	G	4: 137,675,855 (GRCm39)	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,047 (GRCm39)	H90L	probably damaging	Het
Gpr152	T	A	19: 4,192,951 (GRCm39)	V164E	probably damaging	Het
Grik3	A	C	4: 125,587,829 (GRCm39)	I650L	possibly damaging	Het
Gvin3	T	C	7: 106,201,744 (GRCm39)	D500G	probably damaging	Het
Gzmm	A	T	10: 79,530,896 (GRCm39)	T233S	probably benign	Het
H2-Q4	T	A	17: 35,602,288 (GRCm39)	V341D	probably benign	Het
Igsf21	A	G	4: 139,755,029 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,758,538 (GRCm39)		probably benign	Het
Kntc1	T	G	5: 123,919,721 (GRCm39)	V864G	probably damaging	Het
Lnx1	T	C	5: 74,780,816 (GRCm39)	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,824,059 (GRCm39)	K985N	probably benign	Het
Map4k1	C	A	7: 28,701,044 (GRCm39)	P670Q	probably damaging	Het
Mettl16	T	A	11: 74,683,093 (GRCm39)	Y178*	probably null	Het
Mrpl11	T	A	19: 5,013,449 (GRCm39)		probably null	Het
Nup85	T	C	11: 115,460,540 (GRCm39)	S140P	possibly damaging	Het
Or14c44	T	C	7: 86,062,167 (GRCm39)	L199P	possibly damaging	Het
Or1j20	T	C	2: 36,760,532 (GRCm39)		probably benign	Het
Or4k51	T	A	2: 111,585,350 (GRCm39)	V252E	probably damaging	Het
Or5w16	T	C	2: 87,576,942 (GRCm39)	V134A	probably benign	Het
Pcdhb2	T	A	18: 37,428,375 (GRCm39)	L116*	probably null	Het
Pdcd7	C	A	9: 65,253,985 (GRCm39)	R188S	probably damaging	Het
Pdk2	T	C	11: 94,918,111 (GRCm39)	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,069,882 (GRCm39)	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,478,364 (GRCm39)	Y169N	probably damaging	Het
Prcp	A	C	7: 92,559,421 (GRCm39)	T162P	probably benign	Het
Prkd1	A	G	12: 50,388,925 (GRCm39)	S873P	probably benign	Het
Ptpn2	T	C	18: 67,814,623 (GRCm39)	T129A	probably benign	Het
Rtkn	G	A	6: 83,123,042 (GRCm39)	R68H	probably damaging	Het
Sall4	C	T	2: 168,597,776 (GRCm39)	D355N	probably damaging	Het
Scn7a	A	G	2: 66,534,196 (GRCm39)	V493A	probably benign	Het
Sema4b	G	A	7: 79,865,444 (GRCm39)	A140T	probably damaging	Het
Shisa6	C	A	11: 66,108,654 (GRCm39)	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,153,589 (GRCm39)	V197F	probably damaging	Het
Spata2	A	T	2: 167,326,071 (GRCm39)	D249E	probably damaging	Het
Stk36	T	A	1: 74,672,797 (GRCm39)	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,610,899 (GRCm39)	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,365,409 (GRCm39)	V185D	possibly damaging	Het
Tgm7	T	A	2: 120,937,396 (GRCm39)	Y76F	probably benign	Het
Tph1	T	C	7: 46,303,177 (GRCm39)	Y267C	probably damaging	Het
Trgv1	G	A	13: 19,520,740 (GRCm39)		probably benign	Het
Ube2d1	A	G	10: 71,091,656 (GRCm39)		probably benign	Het
Vmn2r12	C	A	5: 109,239,716 (GRCm39)	R282S	probably damaging	Het
Vps4a	A	G	8: 107,763,556 (GRCm39)	D72G	probably benign	Het
Wipf2	T	A	11: 98,781,629 (GRCm39)	V56D	possibly damaging	Het
Zfp750	C	A	11: 121,402,991 (GRCm39)	V586L	probably benign	Het
Zfp831	A	G	2: 174,486,399 (GRCm39)	E358G	possibly damaging	Het

Other mutations in Mapk8ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Mapk8ip1	APN	2	92,215,533 (GRCm39)	missense	probably benign	0.06
IGL02089:Mapk8ip1	APN	2	92,216,220 (GRCm39)	missense	probably damaging	1.00
IGL02177:Mapk8ip1	APN	2	92,217,092 (GRCm39)	missense	probably damaging	1.00
IGL03032:Mapk8ip1	APN	2	92,216,958 (GRCm39)	missense	probably damaging	1.00
IGL03180:Mapk8ip1	APN	2	92,217,257 (GRCm39)	missense	possibly damaging	0.91
R0243:Mapk8ip1	UTSW	2	92,216,289 (GRCm39)	missense	probably damaging	1.00
R0483:Mapk8ip1	UTSW	2	92,216,321 (GRCm39)	splice site	probably null
R0515:Mapk8ip1	UTSW	2	92,217,701 (GRCm39)	missense	possibly damaging	0.71
R2016:Mapk8ip1	UTSW	2	92,221,379 (GRCm39)	critical splice donor site	probably null
R2017:Mapk8ip1	UTSW	2	92,221,379 (GRCm39)	critical splice donor site	probably null
R5141:Mapk8ip1	UTSW	2	92,217,110 (GRCm39)	missense	probably damaging	1.00
R5858:Mapk8ip1	UTSW	2	92,215,317 (GRCm39)	missense	probably damaging	1.00
R6194:Mapk8ip1	UTSW	2	92,219,589 (GRCm39)	missense	probably damaging	0.98
R6243:Mapk8ip1	UTSW	2	92,219,589 (GRCm39)	missense	probably damaging	0.98
R6244:Mapk8ip1	UTSW	2	92,219,589 (GRCm39)	missense	probably damaging	0.98
R6245:Mapk8ip1	UTSW	2	92,219,589 (GRCm39)	missense	probably damaging	0.98
R6984:Mapk8ip1	UTSW	2	92,217,072 (GRCm39)	missense	probably damaging	1.00
R7471:Mapk8ip1	UTSW	2	92,219,489 (GRCm39)	missense	probably benign
R7588:Mapk8ip1	UTSW	2	92,216,984 (GRCm39)	missense	possibly damaging	0.77
R7810:Mapk8ip1	UTSW	2	92,219,496 (GRCm39)	missense	probably benign	0.05
R8021:Mapk8ip1	UTSW	2	92,216,760 (GRCm39)	missense	possibly damaging	0.91
R8975:Mapk8ip1	UTSW	2	92,215,166 (GRCm39)	missense	probably damaging	1.00
R9062:Mapk8ip1	UTSW	2	92,217,527 (GRCm39)	missense	probably damaging	1.00
R9267:Mapk8ip1	UTSW	2	92,216,714 (GRCm39)	missense	possibly damaging	0.46
R9306:Mapk8ip1	UTSW	2	92,219,428 (GRCm39)	missense	probably benign
R9569:Mapk8ip1	UTSW	2	92,217,599 (GRCm39)	missense	probably benign	0.00
R9729:Mapk8ip1	UTSW	2	92,217,060 (GRCm39)	missense	probably damaging	1.00
X0023:Mapk8ip1	UTSW	2	92,216,946 (GRCm39)	missense	possibly damaging	0.75

Posted On

2013-12-03