Mutagenetix > Incidental Mutation

Incidental Mutation 'R9252:Jakmip2'

701631

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: 0.282) question?

Stock #

R9252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43582129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 111 (I111F)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082254
AA Change: I111F

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: I111F

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,172,249	S589G	possibly damaging	Het
Acap2	A	G	16: 31,101,823		probably null	Het
Adgrb3	T	C	1: 25,826,415	N116D	probably benign	Het
Arfgef1	T	A	1: 10,172,897	R1073*	probably null	Het
Atp6v1d	T	A	12: 78,857,249	Q46L	probably benign	Het
C77080	A	G	4: 129,223,476	V510A	probably benign	Het
Car15	A	T	16: 17,835,382	L307*	probably null	Het
Catspere2	A	T	1: 178,111,430	H623L	possibly damaging	Het
Ccdc146	T	C	5: 21,297,025	D797G	probably damaging	Het
Ccdc27	A	T	4: 154,041,050	D112E	unknown	Het
Ccp110	A	G	7: 118,722,450	I443V	probably benign	Het
Cd74	T	A	18: 60,808,292	M103K	possibly damaging	Het
Cdca2	T	A	14: 67,677,382	R809S	possibly damaging	Het
Cfap46	A	T	7: 139,618,249	V2061E	unknown	Het
Ddx11	G	A	17: 66,150,812	E873K	probably benign	Het
Gucy2d	G	A	7: 98,467,772		probably null	Het
Herc1	T	A	9: 66,402,552	S1061R	probably damaging	Het
Ildr1	G	A	16: 36,716,212	R201H	probably damaging	Het
Kcnj2	A	G	11: 111,072,529	D249G	probably damaging	Het
Kif1a	T	A	1: 93,075,054	T208S	probably damaging	Het
Mgam	T	G	6: 40,729,643	M76R	probably damaging	Het
Mib1	T	G	18: 10,800,088	I809S	probably benign	Het
Myh8	G	T	11: 67,286,476	R456L	probably damaging	Het
Mzf1	T	C	7: 13,043,720	T665A	probably benign	Het
Nfya	T	C	17: 48,392,915	H27R		Het
Nktr	T	C	9: 121,750,349	M1161T	unknown	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Odf3b	T	C	15: 89,378,398	S119G	probably benign	Het
Olfr156	C	T	4: 43,821,109	G84D	probably benign	Het
Pde8b	C	T	13: 95,032,916	D567N	probably damaging	Het
Pik3cd	A	G	4: 149,655,630	I491T	possibly damaging	Het
Plcd3	G	T	11: 103,077,554	Y392*	probably null	Het
Plcd4	A	G	1: 74,549,200	I69M	probably damaging	Het
Plekhm2	T	C	4: 141,629,132	Y799C	probably damaging	Het
Pnlip	T	A	19: 58,680,841	I424N	possibly damaging	Het
Prlr	A	G	15: 10,326,464		probably benign	Het
Ptprq	A	G	10: 107,686,386	V568A	probably benign	Het
Rtkn	A	G	6: 83,148,162	E201G	probably damaging	Het
Scg2	C	T	1: 79,436,352	R218H	probably damaging	Het
Shank2	A	G	7: 144,068,798	H223R	possibly damaging	Het
Slc23a2	A	T	2: 132,071,922	F312I	probably damaging	Het
Slc24a1	T	A	9: 64,928,112	E911V	probably damaging	Het
St8sia4	CCTCT	CCT	1: 95,627,507		probably null	Het
Stat1	C	A	1: 52,135,672	Q178K	probably benign	Het
Stat6	A	C	10: 127,647,792	N75T	probably benign	Het
Stk10	G	T	11: 32,588,915	K251N		Het
Sult1e1	G	T	5: 87,590,114	A36E	probably damaging	Het
Tbc1d12	A	G	19: 38,911,033	S466G	probably benign	Het
Thsd4	C	A	9: 60,056,947	A421S	probably benign	Het
Tsga10	T	A	1: 37,834,283	I172L	probably benign	Het
Ttn	A	T	2: 76,770,512	M18842K	probably benign	Het
Ttpal	T	G	2: 163,607,185		probably benign	Het
Twf2	A	G	9: 106,211,800	D62G	probably benign	Het
Ube2cbp	C	A	9: 86,372,448	V327F	probably damaging	Het
Ugt1a8	T	C	1: 88,087,984	S40P	probably benign	Het
Unc13c	A	T	9: 73,517,271	I2021N	possibly damaging	Het
Vmn2r97	A	T	17: 18,947,587	Y701F	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
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
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'- ATTGCTTAGAGCCTCATCCAC -3'
(R):5'- TCGCTGCCTCTAGGTATCAAAG -3'

Sequencing Primer
(F):5'- AGAGCCTCATCCACCTGCTTC -3'
(R):5'- GCCTCTAGGTATCAAAGCTTGAAAG -3'

Posted On

2022-03-25