Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02010:Jakmip2'

183345

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 #

IGL02010

Quality Score

Status

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 43559093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

probably null
Transcript: ENSMUST00000082254

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	T	14: 8,578,384	H119Q	possibly damaging	Het
Abca6	T	C	11: 110,219,616	D569G	probably benign	Het
Abhd17b	C	T	19: 21,684,121	T224I	probably benign	Het
Atf6b	T	A	17: 34,654,652	S695R	probably benign	Het
BC027072	T	A	17: 71,749,464	T1073S	probably benign	Het
Cdh6	A	C	15: 13,034,190		probably benign	Het
Cep290	T	C	10: 100,561,345	S2156P	probably benign	Het
Cep290	G	T	10: 100,508,707	C462F	probably benign	Het
Cit	T	C	5: 115,875,947	F240L	probably damaging	Het
Col1a2	T	A	6: 4,512,416		probably null	Het
Ctcf	T	A	8: 105,664,965	H297Q	probably damaging	Het
Dhx29	T	C	13: 112,966,634		probably null	Het
Dhx37	T	G	5: 125,418,713	T835P	possibly damaging	Het
Enc1	C	T	13: 97,245,080	L33F	possibly damaging	Het
Epyc	T	A	10: 97,649,701	M1K	probably null	Het
F10	T	C	8: 13,048,292	I165T	probably damaging	Het
Fam124a	T	C	14: 62,587,279	L74P	probably damaging	Het
Fam234b	A	G	6: 135,209,407	S138G	probably benign	Het
Fam81a	T	C	9: 70,099,137	K198E	probably benign	Het
Fbn2	T	C	18: 58,037,722	Y2199C	probably damaging	Het
Fign	A	C	2: 63,980,400	S175R	probably damaging	Het
Grik1	T	C	16: 88,051,508	N124S	possibly damaging	Het
Hdac9	G	T	12: 34,431,945	L175M	probably damaging	Het
Hephl1	A	C	9: 15,090,556	Y163*	probably null	Het
Hes1	G	A	16: 30,067,310	G244D	probably damaging	Het
Hexb	A	G	13: 97,176,845	L501P	probably benign	Het
Igkv5-45	T	C	6: 69,775,952	I49V	probably benign	Het
Ipo5	T	C	14: 120,933,377	S491P	probably benign	Het
Lrfn5	A	G	12: 61,839,683	T86A	probably damaging	Het
Lrp1b	T	C	2: 41,468,942	T640A	probably damaging	Het
M6pr	G	T	6: 122,315,126	R139L	possibly damaging	Het
Myl9	A	T	2: 156,778,659	N39Y	probably damaging	Het
Nlrp3	A	G	11: 59,549,535	D646G	probably benign	Het
Nlrp5	A	T	7: 23,417,372	M174L	probably benign	Het
Nnmt	T	A	9: 48,592,031	I232F	probably damaging	Het
Nrg1	T	C	8: 31,918,143	T21A	probably benign	Het
Olfr1095	C	T	2: 86,851,197	C167Y	possibly damaging	Het
Olfr808	A	G	10: 129,768,267	Y257C	probably benign	Het
Pcdh7	T	G	5: 58,129,255	N1224K	probably benign	Het
Pde4a	T	C	9: 21,203,554		probably null	Het
Pfkfb3	T	C	2: 11,483,994	T320A	probably benign	Het
Plekhm2	T	C	4: 141,637,419		probably benign	Het
Rabgap1l	C	T	1: 160,472,071	R584H	probably damaging	Het
Rnf157	T	A	11: 116,396,226	N57I	probably damaging	Het
Rtf1	G	A	2: 119,701,266		probably null	Het
Sap130	C	A	18: 31,649,602	R189S	probably damaging	Het
Slc17a2	T	G	13: 23,819,042	V225G	probably benign	Het
Smg1	T	C	7: 118,186,146		probably benign	Het
Tecta	G	A	9: 42,337,193	T1971I	probably damaging	Het
Tmem136	A	T	9: 43,111,564	V165E	probably damaging	Het
Tmem263	T	A	10: 85,114,410	S22T	probably benign	Het
Tnrc18	A	T	5: 142,787,294	F410L	unknown	Het
Ttc27	T	G	17: 74,780,911		probably benign	Het
Vmn1r45	A	T	6: 89,933,686	C101S	probably damaging	Het
Wdr17	T	C	8: 54,659,703	K781E	probably damaging	Het
Xkr6	C	T	14: 63,819,204	T188M	probably benign	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
IGL02040:Jakmip2	APN	18	43571854	missense	probably benign
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