Mutagenetix > Incidental Mutation

Incidental Mutation 'R9788:Jakmip2'

734478

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

Accession Numbers

Is this an essential gene?

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

Stock #

R9788 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43531408-43687773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43571862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 358 (N358I)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000082254
AA Change: N358I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: N358I

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,469,981	T387I	possibly damaging	Het
Abca5	A	T	11: 110,301,427	M753K	probably damaging	Het
Adcy7	A	G	8: 88,319,105	T572A	probably benign	Het
Bmp8b	A	G	4: 123,105,576	M76V	probably damaging	Het
C2cd2	A	G	16: 97,922,273	S15P	possibly damaging	Het
Cfh	T	C	1: 140,108,761	I702V	probably benign	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Cntln	G	A	4: 85,049,856	V771M	probably damaging	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,165,599	C369Y	possibly damaging	Het
Ephb4	T	G	5: 137,365,481	Y583D	probably damaging	Het
Gabra2	T	C	5: 71,034,797	D63G	probably benign	Het
Gfra1	A	G	19: 58,453,220	M93T	probably damaging	Het
Gm3604	A	T	13: 62,371,910	H10Q	possibly damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417		probably benign	Het
Herc1	A	C	9: 66,399,903	I1002L	probably benign	Het
Hmcn1	T	C	1: 150,652,582	I3272V	probably benign	Het
Izumo3	A	G	4: 92,146,800	I60T	probably benign	Het
Klra9	T	A	6: 130,182,422	K209N	possibly damaging	Het
Ldah	A	T	12: 8,283,946	Y279F	possibly damaging	Het
Lrrcc1	T	A	3: 14,537,226	H126Q	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mipep	A	G	14: 60,846,444	T595A	probably damaging	Het
Mms22l	A	G	4: 24,586,204	T859A	probably benign	Het
Mogat1	A	G	1: 78,522,705	M39V	probably benign	Het
Muc6	T	C	7: 141,645,833	D968G	probably damaging	Het
Nab1	T	C	1: 52,490,007	K244E	possibly damaging	Het
Nr1h4	A	G	10: 89,478,776		probably null	Het
Nxph1	A	G	6: 9,247,418	T130A	probably damaging	Het
Obscn	A	G	11: 59,078,852	V2426A	possibly damaging	Het
Olfr1406	C	T	1: 173,183,891	R181H	probably benign	Het
Olfr323	T	A	11: 58,625,866	Y60F	probably benign	Het
Olfr391-ps	T	C	11: 73,798,942	T272A	probably benign	Het
Olfr481	T	C	7: 108,081,538	V248A	probably damaging	Het
Olfr734	A	G	14: 50,320,724	F37S	probably benign	Het
Olfr935	A	G	9: 38,995,000	V145A	possibly damaging	Het
Osbpl3	A	G	6: 50,347,364		probably null	Het
Otop3	T	A	11: 115,344,261	C259S	unknown	Het
Pcsk5	A	G	19: 17,477,881	Y1062H	probably benign	Het
Phf21a	T	C	2: 92,351,633		probably null	Het
Plch1	T	C	3: 63,773,715	I164V	probably benign	Het
Plekhh2	T	A	17: 84,547,464	M42K	possibly damaging	Het
Plekhm3	T	C	1: 64,922,263	D278G	possibly damaging	Het
Plod3	A	G	5: 136,991,057	Y447C	probably damaging	Het
Psg16	T	C	7: 17,090,599	S12P	possibly damaging	Het
Ptprq	A	T	10: 107,565,890	C1914S	probably benign	Het
Rai1	A	G	11: 60,187,254	T715A	possibly damaging	Het
Rsad2	G	A	12: 26,450,578	H237Y	probably benign	Het
Sarm1	A	G	11: 78,488,037	L394P	probably damaging	Het
Scube1	A	G	15: 83,651,700	S258P	possibly damaging	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc22a26	G	A	19: 7,786,433	P412S	probably benign	Het
Son	TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	16: 91,656,811		probably benign	Het
Synrg	A	T	11: 83,986,955	H342L	probably benign	Het
Tenm3	T	C	8: 48,335,561	Y478C	probably benign	Het
Tlr9	C	T	9: 106,223,807	P99L	probably damaging	Het
Trip4	T	C	9: 65,833,420	E535G	probably benign	Het
Utp20	A	G	10: 88,817,309	L303P	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521	N258D	possibly damaging	Het
Zfp616	G	A	11: 74,084,450	G515D	probably damaging	Het
Zfp786	A	G	6: 47,820,882	L374P	probably benign	Het
Zfp82	C	T	7: 30,056,538	R373H	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
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
X0057:Jakmip2	UTSW	18	43565970	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- AGCTCCTTCCACTCTGCAAG -3'
(R):5'- ACCCTATTTCCCTCAAGATACGAG -3'

Sequencing Primer
(F):5'- TTCCACTCTGCAAGGTTAGAAAC -3'
(R):5'- AAACCTCTCCTGGAAAGG -3'

Posted On

2022-11-14