Mutagenetix > Incidental Mutation

Incidental Mutation 'R6382:Jakmip2'

515399

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R6382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43571179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 367 (S367P)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082254
AA Change: S367P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: S367P

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

0.0623

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,600,986	M148K	probably benign	Het
Aldoc	T	C	11: 78,325,742	I242T	probably benign	Het
Camta2	T	C	11: 70,672,041	T927A	probably damaging	Het
Ccdc105	G	A	10: 78,752,841	T45I	possibly damaging	Het
Ccdc30	T	C	4: 119,404,166	R25G	possibly damaging	Het
Cdh16	T	A	8: 104,621,543	M181L	possibly damaging	Het
Clstn1	A	T	4: 149,626,120		probably null	Het
Cnot6l	C	A	5: 96,128,999	R110L	probably damaging	Het
Col7a1	G	A	9: 108,975,393	S2264N	unknown	Het
Cspp1	A	G	1: 10,083,475		probably null	Het
Cul1	T	A	6: 47,502,439	L213Q	probably damaging	Het
Cuta	T	C	17: 26,938,454	Q124R	probably benign	Het
Cyp1a1	T	A	9: 57,700,690	N200K	probably damaging	Het
Dag1	C	A	9: 108,208,137	A602S	possibly damaging	Het
Gm4707	G	A	17: 71,459,243		probably benign	Het
Gm813	T	C	16: 58,613,910	E148G	possibly damaging	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
H2-T23	T	C	17: 36,031,832	Y138C	probably damaging	Het
Hnf4a	A	T	2: 163,569,006	M408L	probably benign	Het
Hpse2	A	G	19: 43,388,202	L37P	possibly damaging	Het
Hsd17b6	A	T	10: 127,991,327	I292N	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,517		probably null	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Igkv10-95	A	G	6: 68,680,688	T43A	probably benign	Het
Igkv6-17	C	T	6: 70,371,830	Q62*	probably null	Het
Lrrc40	A	G	3: 158,058,696	D416G	probably damaging	Het
Mdm2	A	G	10: 117,692,721	V177A	probably benign	Het
Mpp1	TGAGACGAACTCTCCGAG	TGAG	X: 75,125,769		probably null	Het
Myo1b	C	T	1: 51,774,307		probably null	Het
Notch2	A	G	3: 98,141,543	D1799G	probably damaging	Het
Obscn	C	T	11: 58,999,413	G7431D	unknown	Het
Obscn	A	T	11: 59,042,208	C4781S	probably damaging	Het
Olfr1351	C	A	10: 79,017,517	S65Y	probably damaging	Het
Olfr237-ps1	T	A	6: 43,153,965	I220N	probably damaging	Het
Pard3	T	A	8: 127,376,783	V411D	probably damaging	Het
Pfkl	T	C	10: 77,999,837	R246G	probably damaging	Het
Pgs1	T	C	11: 118,003,360	Y238H	probably damaging	Het
Pik3c2g	A	G	6: 139,719,998	E15G	possibly damaging	Het
Pja2	A	G	17: 64,309,615	V95A	probably benign	Het
Ripor2	T	C	13: 24,677,845	I207T	possibly damaging	Het
Rps15	A	G	10: 80,293,986	Y115C	probably damaging	Het
Shkbp1	C	A	7: 27,352,059	E192*	probably null	Het
Slc23a4	T	A	6: 34,957,043	M42L	probably benign	Het
Snx25	T	A	8: 46,055,991	S373C	probably benign	Het
Sppl2a	A	T	2: 126,917,029		probably null	Het
Tpcn2	A	G	7: 145,269,749	S256P	possibly damaging	Het
Txk	C	T	5: 72,736,480		probably benign	Het
Ubr2	C	G	17: 46,957,315	W991S	possibly damaging	Het
Ufc1	A	G	1: 171,294,675	W28R	probably damaging	Het
Unc93b1	C	A	19: 3,935,297	A35E	probably benign	Het
Ush2a	A	G	1: 188,814,302	N3425S	probably benign	Het
Vmn1r32	A	G	6: 66,553,361	Y144H	probably benign	Het
Vmn1r76	A	G	7: 11,930,499	F228L	probably damaging	Het
Zfc3h1	A	G	10: 115,407,908	N715D	probably benign	Het
Zfp933	T	C	4: 147,825,868	S424G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGCTGTTGGCTACCCATC -3'
(R):5'- AAATCTCCAGAATATTGCCAAGGAC -3'

Sequencing Primer
(F):5'- CATCCTTGAGAACAGCTAGGTGTTC -3'
(R):5'- GCCAAGGACTTGAATGTATTACAGC -3'

Posted On

2018-05-04