Mutagenetix > Incidental Mutations

Incidental Mutation 'R0436:Jakmip2'

39032

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

MMRRC Submission

038637-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R0436 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 43558169 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 616 (Q616*)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000082254
AA Change: Q616*

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: Q616*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,543,445		probably benign	Het
Abcb10	C	T	8: 123,971,001	G195S	probably benign	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Alx4	A	T	2: 93,668,357	K145*	probably null	Het
Arl8a	G	A	1: 135,146,980	M1I	probably null	Het
B230118H07Rik	T	C	2: 101,610,519		probably benign	Het
Btbd16	G	A	7: 130,786,053	S134N	probably benign	Het
Ccdc136	T	A	6: 29,414,934	L474Q	probably damaging	Het
Cebpz	A	G	17: 78,935,650	Y192H	probably benign	Het
Cep95	A	G	11: 106,818,685	Q109R	probably null	Het
Cfap54	G	T	10: 93,038,975	Q520K	possibly damaging	Het
Cog2	C	T	8: 124,548,514		probably benign	Het
Cul1	A	G	6: 47,523,773	N702S	probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Dmxl2	T	C	9: 54,383,750	D2472G	probably damaging	Het
Ect2	A	G	3: 27,150,095	F22L	probably benign	Het
Ehd4	A	T	2: 120,102,341	D201E	probably damaging	Het
Eif4ebp3	A	G	18: 36,664,301		probably null	Het
Exd2	T	C	12: 80,490,770		probably benign	Het
Gtf2a1	A	C	12: 91,568,273		probably null	Het
H2-DMb1	A	G	17: 34,159,656	Y256C	probably damaging	Het
Haus6	T	C	4: 86,585,807	R527G	probably benign	Het
Helb	C	T	10: 120,094,212		probably benign	Het
Hhatl	C	T	9: 121,788,762	A254T	probably benign	Het
Hk1	A	T	10: 62,299,275		probably benign	Het
Hmcn2	A	G	2: 31,405,612	K2611R	probably damaging	Het
Hrc	A	G	7: 45,336,133	H236R	possibly damaging	Het
Hunk	T	A	16: 90,464,154	Y178N	probably damaging	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Msantd4	C	T	9: 4,385,180	R302C	probably damaging	Het
Nae1	T	C	8: 104,523,236		probably benign	Het
Nek4	C	T	14: 30,970,472	L293F	probably damaging	Het
Odf2l	C	T	3: 145,126,116	T44I	possibly damaging	Het
Olfr601	A	G	7: 103,358,741	V151A	possibly damaging	Het
Otog	G	A	7: 46,265,936		probably benign	Het
Ppp1r21	C	T	17: 88,565,689	T425I	possibly damaging	Het
Prrc2b	A	G	2: 32,230,660	E2204G	probably damaging	Het
Prrc2c	A	C	1: 162,705,314		probably benign	Het
Prrxl1	T	C	14: 32,608,083	F81S	probably damaging	Het
Ptgs2	T	C	1: 150,104,277		probably benign	Het
Slc12a8	T	A	16: 33,551,085	V197E	probably damaging	Het
Syne3	A	G	12: 104,946,924	W593R	possibly damaging	Het
Tmem63a	A	T	1: 180,972,733	T696S	probably benign	Het
Tnks2	A	G	19: 36,849,358	D165G	possibly damaging	Het
Trim43a	T	C	9: 88,588,187	W349R	probably damaging	Het
Unc45b	T	C	11: 82,929,567		probably benign	Het
Vmn1r4	T	A	6: 56,956,962	N150K	probably damaging	Het
Wdfy4	C	A	14: 33,083,812		probably benign	Het
Wdr77	T	A	3: 105,960,026	D63E	probably damaging	Het
Zan	T	C	5: 137,464,902	T672A	unknown	Het
Zdhhc17	A	T	10: 110,981,990		probably null	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
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
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
X0057:Jakmip2	UTSW	18	43565970	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- CTGATGCCTAAGACCTTCCCCAAAG -3'
(R):5'- TCTTCAGGGATGGATGGCACAGTC -3'

Sequencing Primer
(F):5'- CTTCAATAAAGGGGCTCATGAC -3'
(R):5'- GAGGGTTTTTTTTTCCAAATGACAC -3'

Posted On

2013-05-23