Mutagenetix > Incidental Mutation

Incidental Mutation 'R6194:Mapk8ip1'

502768

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

044334-MU

Accession Numbers

Essential gene?

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

Stock #

R6194 (G1)

Quality Score

106.008

Status

Not 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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,033 (GRCm39)	I90V	probably benign	Het
Afap1l2	T	A	19: 56,911,383 (GRCm39)	R370S	probably damaging	Het
Alcam	A	G	16: 52,088,761 (GRCm39)	Y537H	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asap1	A	G	15: 64,001,058 (GRCm39)	S508P	probably damaging	Het
Atg5	T	C	10: 44,170,612 (GRCm39)	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,127,057 (GRCm39)	P502S	probably damaging	Het
AW209491	T	A	13: 14,811,705 (GRCm39)	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,272,744 (GRCm39)	Y1354H	probably damaging	Het
Card6	A	T	15: 5,127,926 (GRCm39)	S1157T	unknown	Het
Chil6	A	G	3: 106,312,192 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,400,816 (GRCm39)	V238A	probably benign	Het
Cluap1	A	G	16: 3,747,770 (GRCm39)	S308G	probably benign	Het
Cntnap4	A	G	8: 113,602,061 (GRCm39)	D1155G	probably damaging	Het
Cptp	A	G	4: 155,951,098 (GRCm39)	F123L	probably damaging	Het
Elapor1	T	C	3: 108,373,095 (GRCm39)	I600V	probably benign	Het
Fbxw2	G	A	2: 34,697,416 (GRCm39)	T317I	probably damaging	Het
Gc	A	T	5: 89,589,438 (GRCm39)	V197E	probably benign	Het
Gusb	C	T	5: 130,018,906 (GRCm39)	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,795,228 (GRCm39)	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,274,104 (GRCm39)	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,771,748 (GRCm39)	K298N	probably damaging	Het
Hunk	A	T	16: 90,293,283 (GRCm39)	T522S	probably damaging	Het
Ifit3	T	C	19: 34,565,027 (GRCm39)	F191S	probably benign	Het
Ifnab	T	A	4: 88,609,362 (GRCm39)	K35*	probably null	Het
Ifnab	G	T	4: 88,609,363 (GRCm39)	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,312,003 (GRCm39)	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,916,916 (GRCm39)	A71V	possibly damaging	Het
Irag1	T	C	7: 110,498,901 (GRCm39)	N377D	probably damaging	Het
Lim2	T	A	7: 43,085,086 (GRCm39)	C159S	probably damaging	Het
Lrrc56	T	C	7: 140,785,564 (GRCm39)	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,212,698 (GRCm39)	L621P	probably damaging	Het
Mboat2	T	A	12: 24,996,637 (GRCm39)	S213R	probably benign	Het
Mmel1	T	A	4: 154,967,673 (GRCm39)	C99*	probably null	Het
Myo9a	A	G	9: 59,777,033 (GRCm39)	I1144V	probably benign	Het
Naa15	A	G	3: 51,370,721 (GRCm39)	T612A	probably benign	Het
Naalad2	C	T	9: 18,262,443 (GRCm39)	V362I	probably benign	Het
Nbeal1	A	T	1: 60,296,643 (GRCm39)	I1178F	possibly damaging	Het
Nras	C	A	3: 102,966,269 (GRCm39)	A11E	probably damaging	Het
Or13f5	T	A	4: 52,825,779 (GRCm39)	C127*	probably null	Het
Or56a3b	G	T	7: 104,771,377 (GRCm39)	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,475,199 (GRCm39)	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,625,624 (GRCm39)	*519Q	probably null	Het
Prodh	A	T	16: 17,890,381 (GRCm39)	H515Q	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Rbks	T	C	5: 31,824,234 (GRCm39)	E87G	probably benign	Het
Scyl1	G	T	19: 5,820,334 (GRCm39)	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,232,762 (GRCm39)	D222E	probably benign	Het
Slc36a4	T	A	9: 15,638,172 (GRCm39)	C199*	probably null	Het
Slx1b	C	T	7: 126,291,503 (GRCm39)	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,693,083 (GRCm39)	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tfpt	A	T	7: 3,632,026 (GRCm39)	L28Q	probably damaging	Het
Trap1	G	A	16: 3,872,664 (GRCm39)	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,918,847 (GRCm39)	F110I	probably damaging	Het
Zfp345	A	T	2: 150,314,551 (GRCm39)	C329S	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
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

Predicted Primers

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

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

Posted On

2018-02-27