Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02040:Jakmip2'

184709

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: 0.374) question?

Stock #

IGL02040

Quality Score

Status

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43571854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 361 (M361L)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

probably benign
Transcript: ENSMUST00000082254
AA Change: M361L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: M361L

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	G	5: 3,580,405	F107C	probably damaging	Het
4930590J08Rik	T	C	6: 91,918,110	V262A	probably benign	Het
A830018L16Rik	T	A	1: 11,933,598		probably benign	Het
Adgrb1	T	C	15: 74,541,575	V536A	possibly damaging	Het
Ano6	T	G	15: 95,955,944	I667R	probably benign	Het
Ap3b1	T	A	13: 94,408,845		probably null	Het
Azin2	G	T	4: 128,950,658	L37M	possibly damaging	Het
Caap1	A	G	4: 94,550,430	I174T	probably damaging	Het
Cacna1h	A	G	17: 25,397,611	V46A	probably benign	Het
Chrna6	T	C	8: 27,407,261	D196G	probably damaging	Het
Col19a1	A	G	1: 24,312,045		probably null	Het
Defb22	G	T	2: 152,490,056	T19K	possibly damaging	Het
Dhx36	T	C	3: 62,501,015	D134G	probably benign	Het
Dync1h1	A	G	12: 110,637,124	I2211V	probably benign	Het
Ecel1	A	C	1: 87,154,923	C23G	probably benign	Het
Elmod2	A	G	8: 83,321,497	V112A	probably damaging	Het
Enpp1	T	C	10: 24,655,856	K510E	probably damaging	Het
Erbb4	A	T	1: 68,042,535	S1113R	probably damaging	Het
Esf1	A	T	2: 140,129,261	D653E	possibly damaging	Het
Exd1	A	G	2: 119,540,065	V54A	possibly damaging	Het
Fam227b	A	T	2: 126,121,084		probably benign	Het
Fnbp1l	A	G	3: 122,570,953		probably benign	Het
Foxf1	A	G	8: 121,085,345	N316S	probably damaging	Het
Gm12794	G	A	4: 101,941,134	V101I	possibly damaging	Het
Gm15448	A	G	7: 3,821,517		probably benign	Het
Gpaa1	T	C	15: 76,334,295	V426A	probably benign	Het
Gpc2	A	G	5: 138,276,582		probably null	Het
Hnrnpab	A	G	11: 51,601,795		probably benign	Het
Hsf4	T	G	8: 105,275,667		probably benign	Het
Inpp4a	G	T	1: 37,396,085	R179L	probably damaging	Het
Kif15	A	C	9: 123,017,385	Y117S	probably damaging	Het
Lnpep	T	C	17: 17,544,905	H761R	probably benign	Het
Masp2	G	T	4: 148,603,813	C180F	probably damaging	Het
Mical2	A	G	7: 112,311,406	E261G	probably damaging	Het
Mtmr7	T	C	8: 40,560,885	I211V	probably benign	Het
Nsd2	T	C	5: 33,867,571		probably benign	Het
Olfr1062	A	G	2: 86,422,992	I228T	probably damaging	Het
Olfr1226	A	G	2: 89,193,563	I157T	probably benign	Het
Olfr638	A	G	7: 104,003,407	N44S	probably damaging	Het
Olfr933	T	C	9: 38,976,614		probably benign	Het
Oxct1	G	A	15: 4,026,768		probably benign	Het
Plbd2	C	T	5: 120,487,442	S430N	probably damaging	Het
Postn	A	G	3: 54,362,689	K63R	probably benign	Het
Proc	A	T	18: 32,134,860	V75E	probably benign	Het
Ptprt	T	C	2: 162,238,072	Y269C	probably damaging	Het
Rcc2	T	C	4: 140,720,591	V476A	possibly damaging	Het
Recql5	A	G	11: 115,932,797	V41A	possibly damaging	Het
Ros1	T	A	10: 52,115,922	I1402F	probably damaging	Het
Rpgrip1	C	T	14: 52,121,019	T194I	possibly damaging	Het
Scin	T	C	12: 40,069,453		probably benign	Het
Skint4	T	C	4: 112,146,482		probably benign	Het
Sptan1	T	A	2: 30,013,713	S1545T	probably benign	Het
Tpra1	A	T	6: 88,910,182	H168L	possibly damaging	Het
Trim47	T	C	11: 116,107,908	E295G	probably damaging	Het
Ttc28	T	A	5: 110,892,936	C63*	probably null	Het
Usp45	G	A	4: 21,830,433	R696H	probably benign	Het
Zfyve27	G	A	19: 42,179,391	R124Q	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
IGL02143:Jakmip2	APN	18	43563285	missense	probably damaging	1.00
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	splice site	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
R7070:Jakmip2	UTSW	18	43557328	critical splice donor site	probably null
R7103:Jakmip2	UTSW	18	43540583	splice site	probably null
R7434:Jakmip2	UTSW	18	43557379	missense	possibly damaging	0.94
R7446:Jakmip2	UTSW	18	43577325	missense	probably damaging	1.00
R7515:Jakmip2	UTSW	18	43571126	missense	probably benign	0.01
R7586:Jakmip2	UTSW	18	43540611	missense	probably damaging	0.98
R7720:Jakmip2	UTSW	18	43571908	missense	possibly damaging	0.51
R7999:Jakmip2	UTSW	18	43563333	missense	probably benign	0.21
R9002:Jakmip2	UTSW	18	43582258	missense	probably benign	0.05
R9184:Jakmip2	UTSW	18	43582287	missense	probably benign	0.34
R9248:Jakmip2	UTSW	18	43552177	missense	probably benign	0.04
R9252:Jakmip2	UTSW	18	43582129	missense	possibly damaging	0.92
R9674:Jakmip2	UTSW	18	43571896	missense	probably benign
R9691:Jakmip2	UTSW	18	43540620	missense	probably damaging	0.99
R9788:Jakmip2	UTSW	18	43571862	missense	probably damaging	1.00
X0057:Jakmip2	UTSW	18	43565970	missense	possibly damaging	0.48

Posted On

2014-05-07