Mutagenetix > Incidental Mutation

Incidental Mutation 'R6243:Mapk8ip1'

526465

Institutional Source

Beutler Lab

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

MMRRC Submission

044365-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R6243 (G1)

Quality Score

74.0075

Status

Validated

Chromosome

Chromosomal Location

92214021-92231608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92219589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 81 (G81C)

Ref Sequence

ENSEMBL: ENSMUSP00000050773 (fasta)

Gene Model

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

AlphaFold

Q9WVI9

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 damaging
Transcript: ENSMUST00000050312
AA Change: G81C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
AA Change: G81C

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

possibly damaging
Transcript: ENSMUST00000111279
AA Change: G72C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
AA Change: G72C

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

Meta Mutation Damage Score

0.0844

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,450,809 (GRCm39)	S331P	probably damaging	Het
Akap9	T	G	5: 4,115,000 (GRCm39)		probably null	Het
Ankef1	A	G	2: 136,379,077 (GRCm39)	E9G	probably damaging	Het
Ap1g2	T	C	14: 55,336,530 (GRCm39)	E788G	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,093,868 (GRCm39)	I220K	probably damaging	Het
Atg16l2	A	C	7: 100,941,536 (GRCm39)	*404E	probably null	Het
Atp4a	T	C	7: 30,415,382 (GRCm39)	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 106,292,495 (GRCm39)	E17G	probably benign	Het
Bcat2	T	C	7: 45,237,691 (GRCm39)	V279A	probably benign	Het
Birc6	T	G	17: 74,916,382 (GRCm39)	M459R	probably damaging	Het
Bsn	T	C	9: 107,984,760 (GRCm39)	Y3098C	unknown	Het
Btaf1	T	A	19: 36,958,520 (GRCm39)	M679K	probably benign	Het
Cirop	T	A	14: 54,933,216 (GRCm39)	R322S	probably damaging	Het
Col6a4	T	C	9: 105,890,589 (GRCm39)	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,064,740 (GRCm39)	C364Y	probably damaging	Het
Crmp1	T	C	5: 37,446,288 (GRCm39)	L648P	probably damaging	Het
Cyfip1	T	C	7: 55,550,277 (GRCm39)	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 25,761,044 (GRCm39)	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,986,131 (GRCm39)	V233E	probably benign	Het
Dnhd1	A	T	7: 105,301,216 (GRCm39)	H191L	probably damaging	Het
Dsg3	T	A	18: 20,672,781 (GRCm39)	D817E	probably damaging	Het
Dytn	T	C	1: 63,686,680 (GRCm39)	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,163,091 (GRCm39)	E123*	probably null	Het
Fchsd2	T	C	7: 100,921,016 (GRCm39)		probably benign	Het
Fmo9	T	C	1: 166,494,938 (GRCm39)	E270G	probably benign	Het
Folr1	T	A	7: 101,513,172 (GRCm39)	H41L	probably damaging	Het
Gm7298	A	G	6: 121,756,096 (GRCm39)	N985S	possibly damaging	Het
Gp1ba	T	C	11: 70,530,963 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Igf2bp3	A	T	6: 49,084,362 (GRCm39)	N285K	possibly damaging	Het
Lca5l	G	A	16: 95,980,112 (GRCm39)	T6I	possibly damaging	Het
Mpeg1	A	G	19: 12,439,604 (GRCm39)	H354R	probably benign	Het
Msh6	T	A	17: 88,290,999 (GRCm39)	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,351,182 (GRCm39)	T243I	probably benign	Het
Myo1h	T	A	5: 114,500,208 (GRCm39)	I195K	probably damaging	Het
Nr1h5	T	C	3: 102,856,380 (GRCm39)	K300E	probably benign	Het
Nuak2	T	C	1: 132,260,105 (GRCm39)	S628P	probably benign	Het
Nup214	G	T	2: 31,892,944 (GRCm39)	A721S	possibly damaging	Het
Or12e13	A	G	2: 87,663,385 (GRCm39)	M1V	probably null	Het
Or5d47	A	G	2: 87,804,931 (GRCm39)	V26A	probably benign	Het
Pclo	T	C	5: 14,726,457 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,065,320 (GRCm39)	S12G	probably benign	Het
Pik3r5	T	C	11: 68,382,826 (GRCm39)	Y289H	probably damaging	Het
Pld1	T	C	3: 28,149,954 (GRCm39)	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,846,299 (GRCm39)	Y182H	probably damaging	Het
Ppid	A	G	3: 79,510,373 (GRCm39)	I354V	probably benign	Het
Prss2	T	C	6: 41,501,387 (GRCm39)	V152A	probably benign	Het
Rab28	C	T	5: 41,793,223 (GRCm39)	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,472,877 (GRCm39)		probably null	Het
Rabl6	T	G	2: 25,475,415 (GRCm39)	S553R	probably damaging	Het
Rars1	A	G	11: 35,717,374 (GRCm39)	F170S	possibly damaging	Het
Ror2	T	A	13: 53,267,116 (GRCm39)	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph4a	A	T	10: 33,785,139 (GRCm39)	Q350L	probably damaging	Het
Serpinb2	T	C	1: 107,450,869 (GRCm39)	F204L	probably damaging	Het
Sertad4	T	C	1: 192,533,257 (GRCm39)		probably null	Het
Shisa3	C	T	5: 67,768,486 (GRCm39)	P129S	probably benign	Het
Slc13a2	G	A	11: 78,295,534 (GRCm39)	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Stab2	T	A	10: 86,743,025 (GRCm39)	R1195W	probably damaging	Het
Syna	C	A	5: 134,588,968 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,030 (GRCm39)	D759E	probably benign	Het
Thoc5	A	G	11: 4,869,753 (GRCm39)	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,601 (GRCm39)	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,090,599 (GRCm39)	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,029,671 (GRCm39)	N43S	possibly damaging	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,610,818 (GRCm39)	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,947,211 (GRCm39)	T514A	probably benign	Het
Wrn	A	T	8: 33,774,682 (GRCm39)	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,083,184 (GRCm39)	Y550F	probably benign	Het
Zfp995	G	A	17: 22,099,269 (GRCm39)	P322S	probably 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
IGL01538:Mapk8ip1	APN	2	92,219,319 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCCTGCAGAAAGCCTGTC -3'
(R):5'- TGATTTCACTCTGGGCTCGG -3'

Sequencing Primer
(F):5'- AGGGTTGCTCACCTGAGAC -3'
(R):5'- TTACAACCCGGGTGAGGTCAC -3'

Posted On

2018-06-30