Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02143:Jakmip2'

281648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43563285 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 533 (L533Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082254]

Predicted Effect

probably damaging
Transcript: ENSMUST00000082254
AA Change: L533Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: L533Q

Domain	Start	End	E-Value	Type
coiled coil region	13	102	N/A	INTRINSIC
coiled coil region	206	249	N/A	INTRINSIC
Pfam:JAKMIP_CC3	409	602	2.3e-86	PFAM
coiled coil region	698	808	N/A	INTRINSIC

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 reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	C	A	19: 58,789,252	R34L	possibly damaging	Het
Abhd5	T	C	9: 122,365,213	M1T	probably null	Het
Ager	G	A	17: 34,599,118	G183E	probably damaging	Het
Alcam	C	A	16: 52,305,619	V112L	probably damaging	Het
Amot	T	A	X: 145,487,028	Q204H	probably damaging	Het
Ankar	C	T	1: 72,658,649		probably null	Het
Armc9	A	G	1: 86,176,865	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,209,929	T218I	probably benign	Het
Cacna1f	A	C	X: 7,613,995		probably benign	Het
Cacna2d2	T	C	9: 107,518,275		probably null	Het
Ccdc57	A	T	11: 120,861,243	C837*	probably null	Het
Ctbp2	G	A	7: 132,991,156	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,448,526		probably null	Het
Dis3	T	C	14: 99,091,318		probably benign	Het
Disp2	T	C	2: 118,789,969	F394S	probably damaging	Het
Dnah1	T	C	14: 31,283,289	N2336S	probably damaging	Het
Drap1	C	A	19: 5,423,843	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,793,739	R109C	probably benign	Het
Enpp1	A	T	10: 24,677,974	D105E	probably damaging	Het
Evi5l	G	A	8: 4,191,293	M275I	probably damaging	Het
Flt1	T	C	5: 147,578,436	T1059A	probably benign	Het
Fndc3c1	T	C	X: 106,472,734		probably benign	Het
Git1	T	C	11: 77,505,987	V645A	possibly damaging	Het
Gm7735	T	A	16: 89,169,549	C20*	probably null	Het
Ighv1-42	G	T	12: 114,937,286	P60T	probably benign	Het
Kdm2b	C	T	5: 122,947,835	E238K	probably damaging	Het
Lpin2	T	C	17: 71,243,926	S694P	probably damaging	Het
Mab21l2	C	T	3: 86,547,255	R146Q	possibly damaging	Het
Mmp1b	A	T	9: 7,386,400	S174T	probably benign	Het
Neb	T	C	2: 52,291,199	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,511,635	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,791,653		probably null	Het
Obp1a	A	C	X: 78,090,843	M18R	possibly damaging	Het
Olfr525	A	T	7: 140,323,592	K298*	probably null	Het
Olfr695	T	C	7: 106,873,973	T91A	probably benign	Het
Pabpc5	T	A	X: 119,927,991	M1K	probably null	Het
Paxip1	A	G	5: 27,775,598		probably benign	Het
Perm1	A	G	4: 156,218,043	E348G	probably benign	Het
Pfkfb1	T	C	X: 150,622,142	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,698,526	M461V	probably benign	Het
Ppfia2	G	A	10: 106,857,499	D622N	probably damaging	Het
Prtg	T	G	9: 72,892,324	S801R	probably damaging	Het
Rars2	T	A	4: 34,623,404		probably benign	Het
Rasal1	A	G	5: 120,652,852	D35G	probably damaging	Het
Repin1	T	A	6: 48,597,121	L272Q	probably damaging	Het
Stk36	T	C	1: 74,616,569		probably benign	Het
Tbxa2r	A	G	10: 81,334,486	T269A	probably benign	Het
Tmem132c	G	A	5: 127,563,402	R879Q	probably benign	Het
Vmn1r78	C	A	7: 12,152,480	A6E	probably benign	Het
Vps45	T	C	3: 96,019,646	I530V	probably benign	Het
Vps45	A	T	3: 96,033,821	N369K	probably benign	Het
Zkscan16	G	A	4: 58,956,911	G398R	probably damaging	Het

Other mutations in Jakmip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Jakmip2	APN	18	43590679	utr 5 prime	probably benign
IGL01311:Jakmip2	APN	18	43557324	splice site	probably benign
IGL01467:Jakmip2	APN	18	43582287	missense	probably benign	0.34
IGL01947:Jakmip2	APN	18	43547094	missense	probably benign	0.00
IGL02010:Jakmip2	APN	18	43559093	critical splice donor site	probably null
IGL02040:Jakmip2	APN	18	43571854	missense	probably benign
IGL02246:Jakmip2	APN	18	43567158	missense	possibly damaging	0.82
IGL02350:Jakmip2	APN	18	43547127	missense	possibly damaging	0.46
IGL02357:Jakmip2	APN	18	43547127	missense	possibly damaging	0.46
IGL02725:Jakmip2	APN	18	43562590	missense	probably damaging	0.99
IGL02833:Jakmip2	APN	18	43575451	splice site	probably benign
IGL02866:Jakmip2	APN	18	43552201	missense	probably benign	0.28
IGL02981:Jakmip2	APN	18	43562530	critical splice donor site	probably null
R0042:Jakmip2	UTSW	18	43552145	splice site	probably benign
R0044:Jakmip2	UTSW	18	43582105	missense	probably benign
R0436:Jakmip2	UTSW	18	43558169	nonsense	probably null
R1453:Jakmip2	UTSW	18	43559214	intron	probably null
R1682:Jakmip2	UTSW	18	43581831	critical splice donor site	probably null
R1829:Jakmip2	UTSW	18	43582080	missense	possibly damaging	0.93
R1908:Jakmip2	UTSW	18	43567144	missense	probably benign
R2070:Jakmip2	UTSW	18	43563330	missense	probably benign	0.34
R2168:Jakmip2	UTSW	18	43565930	missense	probably damaging	1.00
R2985:Jakmip2	UTSW	18	43571181	missense	possibly damaging	0.79
R3896:Jakmip2	UTSW	18	43549686	missense	probably benign	0.00
R4243:Jakmip2	UTSW	18	43577436	missense	probably benign	0.02
R4245:Jakmip2	UTSW	18	43577436	missense	probably benign	0.02
R4614:Jakmip2	UTSW	18	43562592	missense	probably damaging	1.00
R4687:Jakmip2	UTSW	18	43577412	missense	possibly damaging	0.52
R4830:Jakmip2	UTSW	18	43567143	missense	probably benign	0.00
R4852:Jakmip2	UTSW	18	43577400	missense	probably damaging	0.99
R5099:Jakmip2	UTSW	18	43568108	missense	probably benign	0.20
R5381:Jakmip2	UTSW	18	43581960	missense	probably damaging	1.00
R5753:Jakmip2	UTSW	18	43559116	missense	probably damaging	0.99
R5883:Jakmip2	UTSW	18	43581994	missense	possibly damaging	0.59
R6261:Jakmip2	UTSW	18	43575534	missense	probably benign	0.01
R6382:Jakmip2	UTSW	18	43571179	missense	possibly damaging	0.66
R6527:Jakmip2	UTSW	18	43556524	missense	possibly damaging	0.94
R6612:Jakmip2	UTSW	18	43557367	missense	probably damaging	1.00
R6679:Jakmip2	UTSW	18	43565949	missense	probably damaging	0.98
X0057:Jakmip2	UTSW	18	43565970	missense	possibly damaging	0.48

Posted On

2015-04-16