Mutagenetix > Incidental Mutation

Incidental Mutation 'R5381:Jakmip2'

424759

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

MMRRC Submission

042956-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R5381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43581960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000082254
AA Change: D167G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: D167G

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

0.0937

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (74/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	C	14: 49,232,907	D185G	probably damaging	Het
1700086D15Rik	G	T	11: 65,153,311	S19*	probably null	Het
4930432E11Rik	A	T	7: 29,562,968		noncoding transcript	Het
Acvr1c	T	C	2: 58,287,735	T241A	probably damaging	Het
Ankmy1	T	C	1: 92,876,562	T900A	probably benign	Het
Anp32a	A	C	9: 62,372,177	E107A	probably damaging	Het
Arhgef40	T	C	14: 51,991,849	I623T	probably damaging	Het
Camsap3	T	A	8: 3,603,812	I483N	probably damaging	Het
Card9	G	A	2: 26,358,883	L85F	probably damaging	Het
Cbfa2t2	T	G	2: 154,523,929	V353G	probably damaging	Het
Ccdc166	A	T	15: 75,980,852	L422*	probably null	Het
Ccdc73	A	T	2: 104,989,925	N416Y	probably damaging	Het
Celsr2	A	T	3: 108,402,757	D1552E	probably damaging	Het
Ces1b	A	T	8: 93,065,019	N317K	probably benign	Het
Col6a3	T	C	1: 90,775,612	R2471G	unknown	Het
Crocc	C	T	4: 141,029,311	R1165H	possibly damaging	Het
Csmd3	T	A	15: 47,741,215	Y1955F	probably benign	Het
Ctbp1	A	T	5: 33,249,690	D232E	probably benign	Het
Cuedc1	T	A	11: 88,187,986		probably null	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Dusp6	G	A	10: 99,266,267	V226I	possibly damaging	Het
Gpr152	A	G	19: 4,142,517	E19G	probably damaging	Het
Ighv16-1	T	C	12: 114,068,973	T70A	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Il12b	C	A	11: 44,407,872	D51E	possibly damaging	Het
Il9r	T	G	11: 32,190,715	D435A	probably benign	Het
Klrd1	A	G	6: 129,595,434	D63G	possibly damaging	Het
Lactb	A	G	9: 66,956,015	L439P	probably damaging	Het
Laptm5	T	C	4: 130,933,658		probably benign	Het
Lgals1	A	G	15: 78,930,023	D96G	probably benign	Het
Lrp8	A	T	4: 107,869,110	H871L	probably damaging	Het
Mfap4	A	T	11: 61,487,930	I235F	probably benign	Het
Muc6	G	A	7: 141,637,923	T2279I	possibly damaging	Het
Nlrp4b	T	A	7: 10,715,245	Y91*	probably null	Het
Osbp2	A	G	11: 3,705,593	Y383H	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Palb2	G	T	7: 122,128,413	T78K	probably benign	Het
Panx2	G	T	15: 89,060,230	V53L	probably damaging	Het
Pitx1	T	C	13: 55,826,079	Y313C	probably damaging	Het
Pjvk	A	G	2: 76,651,560		probably null	Het
Pnldc1	T	G	17: 12,890,396	K439T	probably benign	Het
Ppp4r4	A	C	12: 103,593,098	T513P	probably benign	Het
Pram1	A	T	17: 33,641,626	Q389L	probably damaging	Het
Prg4	T	C	1: 150,454,453		probably benign	Het
Prkch	C	A	12: 73,691,592	R158S	probably damaging	Het
Ptpn7	A	T	1: 135,143,168	M332L	probably damaging	Het
Rad51c	A	T	11: 87,397,633	D241E	probably benign	Het
Rara	T	G	11: 98,971,584	I270M	possibly damaging	Het
Ryr2	T	A	13: 11,556,658	D4898V	probably damaging	Het
Sec31b	C	T	19: 44,534,371	G218S	probably damaging	Het
Slc9a1	T	A	4: 133,422,071	L736Q	probably damaging	Het
Slco2a1	A	T	9: 103,068,014	D196V	probably damaging	Het
Sp3	C	A	2: 72,970,566	A368S	probably benign	Het
Stk24	A	T	14: 121,294,233	L337Q	possibly damaging	Het
Tbc1d13	A	G	2: 30,137,367	T96A	probably benign	Het
Tm2d3	G	A	7: 65,701,672	G225S	probably damaging	Het
Tmem55b	T	C	14: 50,929,038	E161G	probably benign	Het
Urb2	T	C	8: 124,029,912	V786A	probably benign	Het
Usp32	C	T	11: 85,059,127		probably benign	Het
Usp54	C	T	14: 20,586,076	G300D	probably damaging	Het
Vmn1r124	T	A	7: 21,260,398	N74Y	probably damaging	Het
Vmn1r77	T	A	7: 12,042,025	C175S	probably damaging	Het
Vmn2r62	G	T	7: 42,787,795	Q422K	probably benign	Het
Vmn2r76	A	G	7: 86,225,288	F827S	probably damaging	Het
Vps52	A	G	17: 33,958,301	S106G	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zic2	A	G	14: 122,475,815	N47S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACCTTGCGCTTCCAACAGC -3'
(R):5'- ATTCAGAGACTCAAGTCCGCG -3'

Sequencing Primer
(F):5'- GTTTTGTTTATGGTAACCGACAAG -3'
(R):5'- AGACTCAAGTCCGCGCTGTG -3'

Posted On

2016-08-04