Mutagenetix > Incidental Mutation

Incidental Mutation 'R2070:Jakmip2'

227096

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

MMRRC Submission

040075-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R2070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43563330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 518 (E518G)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

probably benign
Transcript: ENSMUST00000082254
AA Change: E518G

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: E518G

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

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,876,769	K31E	probably damaging	Het
4930548H24Rik	T	C	5: 31,487,383	V160A	possibly damaging	Het
9130011E15Rik	G	T	19: 45,891,285	P543Q	probably damaging	Het
Abcc10	G	C	17: 46,303,565	N1477K	probably benign	Het
Ablim2	G	A	5: 35,798,513	C24Y	probably damaging	Het
Ankle1	T	C	8: 71,409,344	F497S	probably damaging	Het
Ash1l	C	G	3: 88,966,203	P98A	probably damaging	Het
Atad5	A	T	11: 80,098,052		probably null	Het
B3gnt4	A	T	5: 123,511,370	H266L	probably benign	Het
Bmi1	A	G	2: 18,684,040	I207V	probably benign	Het
Bnip3l	A	G	14: 66,989,222	M174T	probably damaging	Het
Bora	T	C	14: 99,062,278	S229P	probably damaging	Het
Ccdc27	T	A	4: 154,041,813	N73I	unknown	Het
Cdc42bpg	T	A	19: 6,320,488	C1204S	probably damaging	Het
Cdsn	A	T	17: 35,554,694	D40V	probably damaging	Het
Cilp	T	A	9: 65,279,095	V824D	probably damaging	Het
Cmtr1	A	G	17: 29,694,783		probably null	Het
Cntnap1	A	G	11: 101,182,979	Y652C	probably damaging	Het
Col12a1	T	C	9: 79,647,696	I2033M	probably benign	Het
Cwh43	T	C	5: 73,421,517	L289P	probably damaging	Het
Ddhd1	T	C	14: 45,610,624	D529G	probably damaging	Het
Defb28	T	A	2: 152,520,144	S75T	probably benign	Het
Dennd2a	A	T	6: 39,465,119	V939D	probably damaging	Het
Dlg5	T	C	14: 24,136,635	R1866G	probably damaging	Het
Dsc1	C	T	18: 20,088,296		probably null	Het
Ecscr	T	G	18: 35,715,437	N184T	probably damaging	Het
Eif4ebp1	G	T	8: 27,273,344	R55L	probably damaging	Het
Eml1	G	T	12: 108,512,999	V344L	probably damaging	Het
Exoc2	G	T	13: 30,815,370	N901K	probably benign	Het
Fam161b	T	A	12: 84,356,428	I143F	probably benign	Het
Fam180a	A	G	6: 35,325,911	S2P	probably benign	Het
Fam57b	T	C	7: 126,819,840	L4P	probably benign	Het
Fat3	T	A	9: 15,999,370	I1779F	probably benign	Het
Fat4	A	G	3: 39,010,655	K4920R	probably benign	Het
Fsip2	T	A	2: 82,976,355	V1006E	probably damaging	Het
Glcci1	A	G	6: 8,558,566	S30G	probably damaging	Het
Gm13078	T	G	4: 143,726,902	Y193*	probably null	Het
Gm5414	A	T	15: 101,628,060	S43R	possibly damaging	Het
Hao1	T	C	2: 134,530,615	T158A	probably damaging	Het
Hic1	T	C	11: 75,169,059	H154R	possibly damaging	Het
Hmgxb3	T	C	18: 61,171,359	Y53C	probably damaging	Het
Ipmk	A	T	10: 71,372,749	K122*	probably null	Het
Kmt2e	A	G	5: 23,501,995	T1519A	probably benign	Het
Lfng	T	C	5: 140,612,595	I224T	possibly damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Map4k5	C	T	12: 69,816,337	V629I	probably damaging	Het
Med12l	A	G	3: 59,244,905	D1037G	probably damaging	Het
Morc1	C	T	16: 48,592,611	T705I	probably benign	Het
Mptx2	A	T	1: 173,274,578	Y181*	probably null	Het
Mrpl24	T	C	3: 87,923,067		probably null	Het
Myo5a	A	G	9: 75,181,984	E1132G	probably benign	Het
Nedd4l	T	G	18: 65,212,820	F814L	probably damaging	Het
Nmral1	T	A	16: 4,716,347	I77F	probably damaging	Het
Oit3	T	G	10: 59,431,013	I224L	probably benign	Het
Oxsm	A	G	14: 16,241,983	L262P	probably benign	Het
Pacs2	C	T	12: 113,061,111	T407I	probably damaging	Het
Pard6g	T	C	18: 80,117,725	I351T	probably benign	Het
Pdcl2	A	T	5: 76,324,991		probably null	Het
Pdzph1	T	C	17: 58,974,097	R397G	probably benign	Het
Phip	T	A	9: 82,875,299	I1607L	probably benign	Het
Plekhd1	C	A	12: 80,692,907	S10*	probably null	Het
Prdm1	C	T	10: 44,441,412	D505N	possibly damaging	Het
Psmd13	T	C	7: 140,897,648	V320A	probably damaging	Het
Rbak	A	G	5: 143,176,584	L8P	probably damaging	Het
Rere	C	A	4: 150,614,590		probably benign	Het
Rint1	T	C	5: 23,810,929	S456P	possibly damaging	Het
Scn3a	T	C	2: 65,520,866	Q446R	possibly damaging	Het
Slitrk5	A	G	14: 111,680,189	Y415C	probably damaging	Het
Snrnp200	A	G	2: 127,212,403	E210G	possibly damaging	Het
Snrnp200	A	G	2: 127,237,883	T1891A	probably benign	Het
Sohlh2	A	G	3: 55,207,622	I343V	probably benign	Het
Spin1	T	C	13: 51,144,537		probably null	Het
St14	T	A	9: 31,091,373	I745F	probably damaging	Het
Sv2a	G	A	3: 96,193,875	A730T	possibly damaging	Het
Tars2	C	A	3: 95,747,638	G113C	probably damaging	Het
Trp53	A	G	11: 69,589,632	D278G	probably damaging	Het
Ubxn7	T	A	16: 32,372,469	C160S	possibly damaging	Het
Uty	T	C	Y: 1,169,193	E414G	probably benign	Het
Wrap73	T	A	4: 154,148,743	S125T	possibly damaging	Het
Wwc2	T	C	8: 47,868,321	D586G	unknown	Het
Zfp106	T	C	2: 120,523,529	H1490R	probably benign	Het
Zswim5	T	C	4: 116,979,912	V731A	probably benign	Het
Zyg11b	G	C	4: 108,250,819	N463K	possibly 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
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
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'- CTGAGAAAGGTCACTGTGGG -3'
(R):5'- AGCATGATGACAAATGGGATCC -3'

Sequencing Primer
(F):5'- TCACTGTGGGGAGCCAAG -3'
(R):5'- CCCAGGGAAGTTTATTGAAGACTC -3'

Posted On

2014-09-17