Mutagenetix > Incidental Mutation

Incidental Mutation 'R9729:Mapk8ip1'

731201

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

Accession Numbers

Essential gene?

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

Stock #

R9729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92214021-92231608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92217060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 421 (S421P)

Ref Sequence

ENSEMBL: ENSMUSP00000050773 (fasta)

Gene Model

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

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: S421P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
AA Change: S421P

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 damaging
Transcript: ENSMUST00000111279
AA Change: S412P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
AA Change: S412P

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

probably benign
Transcript: ENSMUST00000191292

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,700,519 (GRCm39)	M273K	probably benign	Het
Aar2	A	G	2: 156,393,361 (GRCm39)	D250G	probably benign	Het
Acly	T	A	11: 100,407,711 (GRCm39)	Y213F	probably benign	Het
Adgrg5	G	A	8: 95,668,133 (GRCm39)	M399I		Het
Adhfe1	T	C	1: 9,623,634 (GRCm39)	L95P	probably damaging	Het
Ano7	G	A	1: 93,322,180 (GRCm39)	C396Y	probably damaging	Het
Apob	T	A	12: 8,066,125 (GRCm39)	Y4365N	probably damaging	Het
Arfgap3	C	T	15: 83,192,366 (GRCm39)	R411H	probably damaging	Het
Bbs7	T	C	3: 36,661,818 (GRCm39)	Y127C	probably damaging	Het
Cadps2	T	C	6: 23,382,982 (GRCm39)	T793A	probably benign	Het
Casp8ap2	T	A	4: 32,643,807 (GRCm39)	V960E	possibly damaging	Het
Cd200l1	G	T	16: 45,264,237 (GRCm39)	T107N	possibly damaging	Het
Cdkl3	A	G	11: 51,895,770 (GRCm39)	T6A	probably benign	Het
Cdkn2aip	T	C	8: 48,166,654 (GRCm39)	D51G	probably benign	Het
Cdpf1	G	T	15: 85,692,527 (GRCm39)	S52*	probably null	Het
Celf5	T	A	10: 81,303,925 (GRCm39)	D177V	probably damaging	Het
Cep164	A	G	9: 45,682,897 (GRCm39)	V931A	probably damaging	Het
Cog6	T	C	3: 52,900,907 (GRCm39)	D457G	probably damaging	Het
Col4a2	G	T	8: 11,496,157 (GRCm39)	V1593L	probably benign	Het
Dlg5	C	G	14: 24,204,681 (GRCm39)	M1287I	probably benign	Het
Dmrt1	T	C	19: 25,523,362 (GRCm39)	S238P	probably benign	Het
Dpysl2	A	G	14: 67,099,927 (GRCm39)	M103T	probably benign	Het
Emsy	C	A	7: 98,262,256 (GRCm39)	A608S	probably benign	Het
Entr1	A	G	2: 26,278,645 (GRCm39)	F21S	unknown	Het
Entrep2	C	T	7: 64,806,056 (GRCm39)	G6S	probably benign	Het
Exoc5	A	T	14: 49,253,086 (GRCm39)	C576S	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,558 (GRCm39)	V214M	possibly damaging	Het
Fignl1	A	G	11: 11,752,219 (GRCm39)	S279P	probably benign	Het
Gimap1	A	G	6: 48,719,386 (GRCm39)	R71G	unknown	Het
Gm26727	A	T	2: 67,263,263 (GRCm39)	M88K	probably damaging	Het
Gm45861	T	A	8: 28,045,436 (GRCm39)	W1066R	unknown	Het
Gpr15	A	G	16: 58,538,249 (GRCm39)	L280S	possibly damaging	Het
Grin1	C	T	2: 25,187,422 (GRCm39)	W629*	probably null	Het
Grk5	C	T	19: 61,078,467 (GRCm39)	P508L	possibly damaging	Het
Hgf	A	T	5: 16,766,029 (GRCm39)	D55V	probably damaging	Het
Hipk1	T	A	3: 103,668,890 (GRCm39)	D502V	probably damaging	Het
Kmt2c	T	C	5: 25,489,758 (GRCm39)	K4394E	probably damaging	Het
Llgl2	A	G	11: 115,740,467 (GRCm39)	T388A	probably damaging	Het
Lsm14a	G	T	7: 34,088,898 (GRCm39)	S2R	probably damaging	Het
Madd	A	T	2: 91,000,544 (GRCm39)	M507K	possibly damaging	Het
Map2k3	G	T	11: 60,837,472 (GRCm39)	V191L		Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Myc	T	G	15: 61,859,935 (GRCm39)	C204G	probably damaging	Het
Nampt	A	G	12: 32,900,528 (GRCm39)	H491R	possibly damaging	Het
Noct	C	T	3: 51,157,267 (GRCm39)	Q202*	probably null	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or10b1	T	A	10: 78,355,949 (GRCm39)	F169Y	probably damaging	Het
Osbpl10	G	A	9: 115,052,804 (GRCm39)	V451M	probably damaging	Het
Osr2	T	A	15: 35,303,061 (GRCm39)	F312Y	probably benign	Het
Parp16	A	T	9: 65,137,097 (GRCm39)	I108F	possibly damaging	Het
Parp4	A	G	14: 56,885,888 (GRCm39)	T1656A	unknown	Het
Pnpla8	A	G	12: 44,330,657 (GRCm39)	I374V	probably benign	Het
Prss23	T	C	7: 89,159,931 (GRCm39)	N46S	probably benign	Het
Ptger2	T	C	14: 45,226,476 (GRCm39)	W19R	possibly damaging	Het
Rbl2	T	C	8: 91,805,527 (GRCm39)	S195P	probably damaging	Het
Rnf169	C	T	7: 99,575,477 (GRCm39)	V373I	probably damaging	Het
Sclt1	C	A	3: 41,629,837 (GRCm39)	E325*	probably null	Het
Sergef	C	T	7: 46,284,913 (GRCm39)	S43N	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slc3a2	T	C	19: 8,685,370 (GRCm39)	D472G	probably damaging	Het
Slc43a3	T	C	2: 84,780,800 (GRCm39)	F342L	probably benign	Het
Slc44a4	A	T	17: 35,140,670 (GRCm39)	I288F	probably benign	Het
Snupn	T	A	9: 56,877,915 (GRCm39)	N151K	possibly damaging	Het
Srbd1	A	T	17: 86,437,550 (GRCm39)	D264E	probably benign	Het
Srpra	A	T	9: 35,125,569 (GRCm39)	T378S	probably benign	Het
Stat4	A	G	1: 52,141,762 (GRCm39)	D613G	possibly damaging	Het
Sycp2l	C	T	13: 41,326,132 (GRCm39)	P246L		Het
Tcf20	T	C	15: 82,736,037 (GRCm39)	R1805G	probably benign	Het
Tob1	T	A	11: 94,104,880 (GRCm39)	F139I	probably damaging	Het
Traj9	A	G	14: 54,446,871 (GRCm39)	T8A	unknown	Het
Trank1	G	T	9: 111,220,537 (GRCm39)	D2425Y	probably damaging	Het
Ttn	G	A	2: 76,738,071 (GRCm39)	S4202L	unknown	Het
Ttn	A	T	2: 76,577,267 (GRCm39)	M24542K	probably damaging	Het
Vcam1	T	C	3: 115,911,105 (GRCm39)	Y431C	probably damaging	Het
Vcpkmt	G	A	12: 69,627,936 (GRCm39)	R175C	probably damaging	Het
Vmn2r51	A	T	7: 9,839,479 (GRCm39)	D36E	probably benign	Het
Vmn2r61	A	G	7: 41,949,917 (GRCm39)	E779G	probably damaging	Het
Zfp831	T	C	2: 174,487,938 (GRCm39)	L871P	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
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
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
X0023:Mapk8ip1	UTSW	2	92,216,946 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TGTTCAGGTTCCCACACTGC -3'
(R):5'- CCTCCATCAGTGAAGAGGATG -3'

Sequencing Primer
(F):5'- GGTTCCCACACTGCTCCCC -3'
(R):5'- ACTGCCTGTCATCCCCAGAG -3'

Posted On

2022-10-06