Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03027:Mapk8ip2'

408249

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mapk8ip2

Ensembl Gene

ENSMUSG00000022619

Gene Name

mitogen-activated protein kinase 8 interacting protein 2

Synonyms

JNK-interacting protein, 3230402N03Rik, Jip2, IB2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

IGL03027

Quality Score

Status

Chromosome

Chromosomal Location

89338114-89346650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89342310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 507 (D507V)

Ref Sequence

ENSEMBL: ENSMUSP00000023291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023291] [ENSMUST00000137755]

AlphaFold

Q9ERE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023291
AA Change: D507V

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

SMART Domains

Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619
AA Change: D507V

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	85	104	N/A	INTRINSIC
low complexity region	176	194	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	271	295	N/A	INTRINSIC
low complexity region	300	324	N/A	INTRINSIC
low complexity region	419	437	N/A	INTRINSIC
low complexity region	472	490	N/A	INTRINSIC
low complexity region	541	555	N/A	INTRINSIC
low complexity region	589	598	N/A	INTRINSIC
SH3	613	670	2.24e-10	SMART
PTB	684	823	1.19e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137755

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. [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
Adgrf1	A	T	17: 43,607,605 (GRCm39)	Y108F	probably damaging	Het
Afap1	T	C	5: 36,119,094 (GRCm39)	I243T	probably benign	Het
Ano5	A	G	7: 51,216,025 (GRCm39)	D320G	probably damaging	Het
Arhgef1	T	A	7: 24,623,157 (GRCm39)	I423K	probably damaging	Het
Casp9	A	G	4: 141,539,584 (GRCm39)	E410G	probably benign	Het
Ccdc39	A	C	3: 33,884,267 (GRCm39)	H358Q	probably benign	Het
Ces5a	A	T	8: 94,249,742 (GRCm39)		probably null	Het
Clip1	A	T	5: 123,759,919 (GRCm39)	M935K	probably benign	Het
Col12a1	A	G	9: 79,548,833 (GRCm39)	Y2171H	probably benign	Het
Cyp2f2	A	T	7: 26,831,996 (GRCm39)	N417I	possibly damaging	Het
Dock3	G	A	9: 106,870,677 (GRCm39)	P579L	probably damaging	Het
Dock7	T	C	4: 98,866,164 (GRCm39)	M1209V	probably benign	Het
Dock7	T	C	4: 98,958,450 (GRCm39)	T334A	possibly damaging	Het
Dst	A	T	1: 34,225,106 (GRCm39)	I1171F	possibly damaging	Het
Eya1	G	T	1: 14,241,190 (GRCm39)	H576N	probably damaging	Het
Fam117a	A	G	11: 95,268,399 (GRCm39)	T267A	probably benign	Het
Fam43a	C	T	16: 30,419,922 (GRCm39)	R169C	probably damaging	Het
Gabra6	T	C	11: 42,205,980 (GRCm39)	H291R	probably damaging	Het
Gm7145	T	C	1: 117,895,417 (GRCm39)	S27P	probably benign	Het
Gpt	C	T	15: 76,582,289 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,755,852 (GRCm39)	I586T	probably benign	Het
Hif1a	C	T	12: 73,987,251 (GRCm39)	P448L	probably benign	Het
Hmcn1	C	T	1: 150,684,290 (GRCm39)	V427I	probably benign	Het
Ipo8	C	A	6: 148,678,737 (GRCm39)	V954L	probably benign	Het
Kdm5a	G	T	6: 120,351,951 (GRCm39)		probably null	Het
Klhl36	T	A	8: 120,603,229 (GRCm39)	S495T	probably benign	Het
Lpar5	T	A	6: 125,059,203 (GRCm39)	L308Q	probably damaging	Het
Lrp2	T	G	2: 69,367,897 (GRCm39)	D205A	probably benign	Het
Lrriq1	A	G	10: 103,063,057 (GRCm39)	I83T	probably benign	Het
Mical1	T	C	10: 41,355,501 (GRCm39)		probably benign	Het
Myef2	T	A	2: 124,930,954 (GRCm39)	H539L	possibly damaging	Het
Myh7	T	C	14: 55,221,007 (GRCm39)	E972G	probably damaging	Het
Naip5	A	G	13: 100,359,524 (GRCm39)	Y571H	probably benign	Het
Nfasc	T	A	1: 132,538,207 (GRCm39)	N478I	probably damaging	Het
Or6c1b	A	G	10: 129,272,780 (GRCm39)	Y33C	probably damaging	Het
Pde2a	A	T	7: 101,130,627 (GRCm39)	Q89L	probably benign	Het
Ppard	C	A	17: 28,518,765 (GRCm39)	T422K	possibly damaging	Het
Ppp1r13b	G	T	12: 111,796,830 (GRCm39)	Y904*	probably null	Het
Ptx4	T	A	17: 25,344,022 (GRCm39)	I424K	possibly damaging	Het
Rab19	A	G	6: 39,360,927 (GRCm39)	D25G	probably damaging	Het
Rbl2	T	A	8: 91,805,534 (GRCm39)	I197N	possibly damaging	Het
Rttn	A	G	18: 88,997,814 (GRCm39)	D273G	probably damaging	Het
Sec16a	G	A	2: 26,313,601 (GRCm39)	R1920C	probably benign	Het
Sec23b	A	T	2: 144,429,465 (GRCm39)	N731I	possibly damaging	Het
Serpinb9d	G	A	13: 33,386,698 (GRCm39)	W255*	probably null	Het
Sim2	G	A	16: 93,910,351 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,920,167 (GRCm39)		probably null	Het
Tmem176b	C	T	6: 48,812,573 (GRCm39)	A131T	probably damaging	Het
Tmem181a	T	A	17: 6,348,494 (GRCm39)	V332D	probably damaging	Het
Trgc1	G	T	13: 19,398,563 (GRCm39)	G97*	probably null	Het
Tuba3b	T	A	6: 145,565,117 (GRCm39)	L195Q	probably damaging	Het
Ubc	A	T	5: 125,464,565 (GRCm39)	V254D	probably damaging	Het
Ube4b	G	T	4: 149,465,734 (GRCm39)	P239T	probably damaging	Het
Vars1	G	T	17: 35,232,663 (GRCm39)	M862I	probably damaging	Het
Vmn2r66	T	C	7: 84,644,777 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,188,824 (GRCm39)	A720V	probably damaging	Het
Zfhx3	G	A	8: 109,519,820 (GRCm39)	R314Q	probably damaging	Het

Other mutations in Mapk8ip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Mapk8ip2	APN	15	89,341,220 (GRCm39)	critical splice donor site	probably null
IGL02720:Mapk8ip2	APN	15	89,341,785 (GRCm39)	missense	probably damaging	1.00
IGL02741:Mapk8ip2	APN	15	89,341,700 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Mapk8ip2	UTSW	15	89,344,900 (GRCm39)	missense	probably damaging	1.00
R0504:Mapk8ip2	UTSW	15	89,340,861 (GRCm39)	missense	possibly damaging	0.62
R2355:Mapk8ip2	UTSW	15	89,343,168 (GRCm39)	missense	probably benign	0.04
R3026:Mapk8ip2	UTSW	15	89,345,649 (GRCm39)	missense	probably damaging	1.00
R3430:Mapk8ip2	UTSW	15	89,341,485 (GRCm39)	missense	possibly damaging	0.86
R4275:Mapk8ip2	UTSW	15	89,343,198 (GRCm39)	missense	probably damaging	1.00
R4789:Mapk8ip2	UTSW	15	89,343,241 (GRCm39)	missense	probably damaging	1.00
R4953:Mapk8ip2	UTSW	15	89,341,431 (GRCm39)	missense	probably benign
R5209:Mapk8ip2	UTSW	15	89,343,490 (GRCm39)	missense	probably damaging	1.00
R5417:Mapk8ip2	UTSW	15	89,341,642 (GRCm39)	missense	probably benign	0.16
R5521:Mapk8ip2	UTSW	15	89,343,007 (GRCm39)	missense	probably damaging	1.00
R6860:Mapk8ip2	UTSW	15	89,344,655 (GRCm39)	missense	probably damaging	1.00
R7145:Mapk8ip2	UTSW	15	89,343,201 (GRCm39)	missense	possibly damaging	0.67
R7231:Mapk8ip2	UTSW	15	89,342,279 (GRCm39)	missense	probably benign
R7369:Mapk8ip2	UTSW	15	89,338,454 (GRCm39)	missense	probably benign	0.01
R7753:Mapk8ip2	UTSW	15	89,345,856 (GRCm39)	missense	probably damaging	1.00
R7827:Mapk8ip2	UTSW	15	89,342,322 (GRCm39)	missense	probably damaging	0.98
R7834:Mapk8ip2	UTSW	15	89,345,576 (GRCm39)	missense	probably damaging	1.00
R8387:Mapk8ip2	UTSW	15	89,344,897 (GRCm39)	missense	probably damaging	1.00
R8433:Mapk8ip2	UTSW	15	89,342,069 (GRCm39)	missense	probably benign	0.01
R8528:Mapk8ip2	UTSW	15	89,339,422 (GRCm39)	missense	probably damaging	1.00
R9061:Mapk8ip2	UTSW	15	89,342,016 (GRCm39)	missense	possibly damaging	0.76
R9301:Mapk8ip2	UTSW	15	89,341,886 (GRCm39)	missense	probably damaging	1.00
R9768:Mapk8ip2	UTSW	15	89,343,160 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02