Mutagenetix > Incidental Mutations

Incidental Mutation 'R2168:Jakmip2'

235644

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

MMRRC Submission

040171-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R2168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43565930 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 488 (L488P)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082254
AA Change: L488P

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

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: L488P

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

0.8705

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	A	2: 127,878,781	I188N	probably damaging	Het
Akr1c14	T	C	13: 4,081,106	V266A	probably damaging	Het
Als2cl	C	A	9: 110,888,742	P301H	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Cpsf1	A	T	15: 76,603,737	N53K	possibly damaging	Het
Ctsll3	C	T	13: 60,800,935	G69R	possibly damaging	Het
F2	C	T	2: 91,628,348	R539Q	probably damaging	Het
Fam78b	G	A	1: 167,078,650	G126D	probably damaging	Het
Fancd2	A	G	6: 113,591,159	I1332V	possibly damaging	Het
Flg2	C	T	3: 93,201,937	S424L	probably damaging	Het
Fpr1	T	C	17: 17,877,209	T173A	possibly damaging	Het
Gas2l3	A	G	10: 89,414,098	V386A	probably benign	Het
Gdap2	A	C	3: 100,187,883	E269A	probably benign	Het
Gm16432	C	T	1: 178,015,911		probably benign	Het
Igf2bp2	T	A	16: 22,079,608		probably null	Het
Ipo11	T	C	13: 106,879,610		probably null	Het
Itpr2	G	T	6: 146,111,678	P2667Q	probably benign	Het
Itsn2	G	T	12: 4,633,044		probably benign	Het
Lrp1b	A	T	2: 41,375,846	C248S	probably damaging	Het
Lrrc17	A	T	5: 21,575,048	D340V	probably damaging	Het
Megf9	T	C	4: 70,433,442	T481A	probably damaging	Het
Mrc1	T	C	2: 14,244,204	S184P	possibly damaging	Het
Msh4	A	T	3: 153,867,835	Y533*	probably null	Het
Mug1	A	G	6: 121,870,499	N612S	probably benign	Het
Nectin2	G	T	7: 19,730,614	S288R	probably damaging	Het
Neurog2	A	T	3: 127,634,105	H126L	probably damaging	Het
Nol10	A	T	12: 17,373,584	E310V	probably damaging	Het
Olfr1209	A	G	2: 88,910,178	S72P	probably damaging	Het
Olfr1366	T	G	13: 21,537,252	K251T	probably damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr573-ps1	A	T	7: 102,942,471	F35L	probably benign	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,282	F490L	probably benign	Het
Pcsk1	T	A	13: 75,112,534		probably benign	Het
Plekhn1	T	A	4: 156,221,882	D577V	probably damaging	Het
Prrc2c	C	A	1: 162,710,334		probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Pzp	G	A	6: 128,488,047	T1288M	probably damaging	Het
Radil	A	C	5: 142,506,963	H63Q	probably benign	Het
Rai1	T	C	11: 60,187,596	S829P	probably benign	Het
Rd3	A	G	1: 191,983,527	I88V	probably damaging	Het
Rfesd	T	C	13: 76,008,125	D54G	probably damaging	Het
Rnf213	A	C	11: 119,415,070	K568T	probably damaging	Het
Scaper	T	A	9: 55,743,639	K913N	probably damaging	Het
Serpina3c	T	C	12: 104,149,369		probably null	Het
Serpinb6d	A	T	13: 33,666,374	K61N	probably benign	Het
Skint4	A	T	4: 112,086,986		probably null	Het
Sod1	T	C	16: 90,220,913	I19T	possibly damaging	Het
Stfa3	C	A	16: 36,450,680	G81*	probably null	Het
Ubr4	A	G	4: 139,410,649	T1106A	probably benign	Het
Uggt2	T	A	14: 119,019,505	N1106Y	probably damaging	Het
Vmn1r217	G	A	13: 23,114,544	Q63*	probably null	Het
Vmn2r-ps159	A	T	4: 156,338,378		noncoding transcript	Het
Vps13b	C	A	15: 35,792,188	P2201T	probably damaging	Het
Vps13b	C	A	15: 35,792,189	P2201Q	probably damaging	Het
Vps13d	G	T	4: 145,087,323		probably benign	Het
Zer1	A	G	2: 30,104,875	C503R	probably damaging	Het
Zfp369	T	C	13: 65,296,948	V635A	probably benign	Het
Zfp608	A	T	18: 54,898,053	Y938*	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
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
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'- CAGCACAAAGAAATATGTGCCG -3'
(R):5'- GTAAAGGTTAAAGTATCCTTGCCTC -3'

Sequencing Primer
(F):5'- GCTGACATTTTAAGGGCCAC -3'
(R):5'- ACATCCAAACTTTGATTGTGTCTTC -3'

Posted On

2014-10-01