Mutagenetix > Incidental Mutation

Incidental Mutation 'R4830:Jakmip2'

372769

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

MMRRC Submission

042446-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4830 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43567143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 450 (T450I)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

probably benign
Transcript: ENSMUST00000082254
AA Change: T450I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: T450I

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (71/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	C	A	3: 121,760,284	G643V	probably damaging	Het
Adamtsl1	A	G	4: 86,356,382	E1225G	probably damaging	Het
Agbl5	G	A	5: 30,890,715	R111H	probably damaging	Het
Ankle2	A	C	5: 110,242,013	K446Q	probably damaging	Het
Boc	A	C	16: 44,490,157	M800R	probably damaging	Het
Ccnt1	A	T	15: 98,543,451	N645K	probably damaging	Het
Cd93	G	A	2: 148,443,379	Q16*	probably null	Het
Cpsf4l	G	T	11: 113,709,502		probably benign	Het
Cuzd1	T	A	7: 131,318,054	D111V	probably damaging	Het
Dab2	T	C	15: 6,427,527	C232R	probably benign	Het
Dmpk	A	T	7: 19,087,528	Y237F	probably damaging	Het
Dnah6	T	A	6: 73,044,762	T3526S	possibly damaging	Het
Dock2	T	C	11: 34,273,767		probably null	Het
Dsp	G	A	13: 38,192,864	V1542I	probably benign	Het
Dst	T	A	1: 34,198,505		probably null	Het
Esd	T	C	14: 74,741,160	L54S	probably damaging	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Gm3604	A	T	13: 62,369,043	N500K	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grhl2	T	A	15: 37,335,659		probably null	Het
Gsto1	C	T	19: 47,864,391	R222C	probably benign	Het
H2afy2	C	T	10: 61,739,353	D355N	possibly damaging	Het
Inpp4a	T	A	1: 37,371,780	M343K	probably damaging	Het
Itpripl2	T	C	7: 118,491,057	Q93R	probably benign	Het
Kdm6b	A	T	11: 69,403,794	I1186N	unknown	Het
Kif1a	T	C	1: 93,021,209		probably null	Het
Klhl20	T	C	1: 161,098,376	K434R	probably benign	Het
Lemd3	T	C	10: 120,931,948	D697G	probably damaging	Het
Lipo1	A	G	19: 33,776,587	S383P	probably damaging	Het
Ltn1	C	A	16: 87,379,694	K1741N	probably damaging	Het
Lvrn	A	T	18: 46,905,351	T991S	probably damaging	Het
Mast3	C	A	8: 70,788,915	R151L	possibly damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	G	T	2: 52,192,520	Q5450K	probably damaging	Het
Nedd1	T	A	10: 92,686,258	N639I	probably damaging	Het
Nlrp4e	A	T	7: 23,336,740	N673Y	probably benign	Het
Nop53	C	T	7: 15,942,204	R190Q	probably damaging	Het
Notch4	T	C	17: 34,570,118	Y468H	probably damaging	Het
Obscn	T	C	11: 59,067,607	T3507A	probably damaging	Het
Olfr724	T	C	14: 49,960,224	N283D	probably damaging	Het
Opn5	T	C	17: 42,611,296	H5R	probably benign	Het
Patl1	T	C	19: 11,925,151	M349T	probably benign	Het
Phactr3	A	G	2: 178,284,018	N362S	probably damaging	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Rapgef5	G	A	12: 117,756,074	R579Q	probably damaging	Het
Rgl1	T	C	1: 152,554,330	D234G	probably benign	Het
Serpinb3a	C	T	1: 107,048,586	E122K	probably benign	Het
Slc22a15	T	C	3: 101,875,603		probably benign	Het
Slc25a12	A	T	2: 71,296,805	V344E	probably damaging	Het
Slc43a2	T	C	11: 75,543,293	L99P	probably damaging	Het
Smim27	G	T	4: 40,269,719		probably null	Het
Smtn	A	G	11: 3,520,736		probably benign	Het
Szt2	A	T	4: 118,369,248	Y3001N	unknown	Het
Tgfbr3	G	T	5: 107,109,719	P825T	probably damaging	Het
Tnpo3	T	C	6: 29,568,938	T472A	probably benign	Het
Trf	T	A	9: 103,227,915	D66V	probably damaging	Het
Vmn1r124	A	G	7: 21,259,699	C307R	probably damaging	Het
Vps13b	T	A	15: 35,452,224	F656Y	possibly damaging	Het
Zic1	G	T	9: 91,362,531	S358R	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
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
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'- AGGTTTGAAAAGTCCCTAGGG -3'
(R):5'- CCGTGATCTCAGTGTTCATCTAG -3'

Sequencing Primer
(F):5'- GTCCCTAGGGAGATTATATGACATAG -3'
(R):5'- CATCTAGATCTGCCCTAGGGAATG -3'

Posted On

2016-03-01