Mutagenetix > Incidental Mutation

Incidental Mutation 'R4852:Jakmip2'

373681

Institutional Source

Beutler Lab

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

MMRRC Submission

042464-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R4852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43664472-43820838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43710465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 246 (E246G)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000082254
AA Change: E246G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: E246G

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4921524L21Rik	C	G	18: 6,623,487 (GRCm39)	L66V	possibly damaging	Het
4921524L21Rik	T	A	18: 6,623,488 (GRCm39)	L66Q	probably damaging	Het
Abca6	A	G	11: 110,135,029 (GRCm39)	V252A	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acap1	C	T	11: 69,775,202 (GRCm39)	V354M	probably benign	Het
Accs	T	C	2: 93,674,605 (GRCm39)	D99G	probably damaging	Het
Adam9	T	C	8: 25,493,317 (GRCm39)	Y97C	probably damaging	Het
Akap6	T	C	12: 53,151,458 (GRCm39)	V1174A	probably damaging	Het
Aknad1	C	A	3: 108,659,056 (GRCm39)	D23E	probably damaging	Het
Ano2	T	C	6: 125,959,886 (GRCm39)	C666R	possibly damaging	Het
Atp4a	G	A	7: 30,423,693 (GRCm39)	A933T	probably benign	Het
Atxn2	T	C	5: 121,952,474 (GRCm39)	L224P	probably damaging	Het
Bin2	T	C	15: 100,543,169 (GRCm39)	E338G	probably damaging	Het
Bloc1s5	T	C	13: 38,818,960 (GRCm39)	K20E	probably damaging	Het
Bst1	A	T	5: 43,977,867 (GRCm39)	D72V	probably benign	Het
Cacna1i	T	C	15: 80,272,680 (GRCm39)	F1631L	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cfap43	A	G	19: 47,885,550 (GRCm39)	I355T	possibly damaging	Het
Chuk	A	T	19: 44,077,197 (GRCm39)	M383K	possibly damaging	Het
Cnga4	A	G	7: 105,054,937 (GRCm39)	I174V	probably benign	Het
Cpd	T	C	11: 76,675,976 (GRCm39)	K1226E	probably benign	Het
Crip2	T	C	12: 113,104,204 (GRCm39)	C5R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,305 (GRCm39)	D358V	probably damaging	Het
Ebag9	T	C	15: 44,487,915 (GRCm39)	F21S	probably damaging	Het
Ercc1	A	T	7: 19,084,629 (GRCm39)	H70L	probably damaging	Het
Exoc3	G	A	13: 74,347,764 (GRCm39)	R69C	probably damaging	Het
Fgfr4	A	T	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,434 (GRCm39)		probably benign	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Gpr152	G	A	19: 4,193,790 (GRCm39)	V444I	probably benign	Het
Gss	T	C	2: 155,406,785 (GRCm39)	E330G	probably benign	Het
Hbs1l	A	G	10: 21,234,287 (GRCm39)	D556G	possibly damaging	Het
Helz2	T	C	2: 180,871,913 (GRCm39)	T2619A	probably damaging	Het
Hk3	A	G	13: 55,160,409 (GRCm39)	F304L	probably damaging	Het
Itgad	A	T	7: 127,797,702 (GRCm39)	N906Y	probably damaging	Het
L3mbtl4	A	T	17: 68,866,748 (GRCm39)	H329L	probably damaging	Het
Mau2	A	G	8: 70,485,827 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,423,474 (GRCm39)	L270P	probably damaging	Het
Naa25	T	C	5: 121,568,755 (GRCm39)	S606P	probably damaging	Het
Nags	T	A	11: 102,037,447 (GRCm39)	C179*	probably null	Het
Naip2	A	G	13: 100,298,044 (GRCm39)	M664T	probably benign	Het
Ndufv3	T	C	17: 31,747,043 (GRCm39)	I311T	probably benign	Het
Nipsnap1	G	T	11: 4,841,468 (GRCm39)	E258*	probably null	Het
Nudc	A	G	4: 133,261,660 (GRCm39)	L208P	probably damaging	Het
Or1e32	T	C	11: 73,705,074 (GRCm39)	Y278C	probably benign	Het
Or51a39	A	T	7: 102,362,750 (GRCm39)	V290E	probably damaging	Het
Oscp1	A	G	4: 125,970,652 (GRCm39)	D137G	possibly damaging	Het
Pcdhb5	C	T	18: 37,455,524 (GRCm39)	P635S	probably benign	Het
Pcdhgb2	T	A	18: 37,825,103 (GRCm39)	I698N	probably damaging	Het
Pde4b	A	G	4: 102,454,967 (GRCm39)	Y399C	probably damaging	Het
Pdf	A	T	8: 107,774,812 (GRCm39)	V140E	probably damaging	Het
Pglyrp2	T	C	17: 32,634,823 (GRCm39)	N513S	probably benign	Het
Ranbp2	T	A	10: 58,312,878 (GRCm39)	D1199E	possibly damaging	Het
Rell2	G	T	18: 38,089,621 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,156,147 (GRCm39)	H745R	probably benign	Het
Rnf121	A	G	7: 101,672,592 (GRCm39)	C264R	probably damaging	Het
Rnf181	A	G	6: 72,338,499 (GRCm39)	F3S	probably damaging	Het
Rsrc1	T	A	3: 67,262,935 (GRCm39)	D296E	probably damaging	Het
Rubcn	A	T	16: 32,663,678 (GRCm39)	D319E	probably damaging	Het
Scaf8	T	C	17: 3,228,494 (GRCm39)	S431P	unknown	Het
Septin11	T	A	5: 93,310,112 (GRCm39)	M305K	possibly damaging	Het
Serpinb12	A	G	1: 106,884,132 (GRCm39)	K293E	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Specc1	T	A	11: 62,102,510 (GRCm39)	V952E	probably damaging	Het
Spint2	G	A	7: 28,956,211 (GRCm39)	T158I	probably benign	Het
St8sia4	A	T	1: 95,588,623 (GRCm39)	W71R	probably damaging	Het
Tex48	C	T	4: 63,530,151 (GRCm39)	V23I	possibly damaging	Het
Tmc5	G	A	7: 118,244,562 (GRCm39)	G480D	probably benign	Het
Tmem8b	T	A	4: 43,689,713 (GRCm39)	M330K	probably damaging	Het
Tnrc18	C	T	5: 142,717,095 (GRCm39)	R2453Q	probably damaging	Het
Trank1	A	T	9: 111,220,963 (GRCm39)	N2567Y	possibly damaging	Het
Trps1	T	C	15: 50,709,705 (GRCm39)	D211G	probably damaging	Het
Ttn	T	C	2: 76,555,503 (GRCm39)	R30501G	probably damaging	Het
Ttn	T	A	2: 76,573,247 (GRCm39)	Y25882F	probably damaging	Het
Unc79	T	A	12: 103,139,725 (GRCm39)	V2495E	probably damaging	Het
Uqcr10	T	A	11: 4,652,198 (GRCm39)	H58L	possibly damaging	Het
Usp7	A	T	16: 8,574,708 (GRCm39)	C58*	probably null	Het
Vmn1r36	A	T	6: 66,693,872 (GRCm39)	M1K	probably null	Het
Wdr7	T	A	18: 63,911,020 (GRCm39)	M804K	probably damaging	Het
Zfp131	A	C	13: 120,250,394 (GRCm39)		probably null	Het
Zfp507	A	G	7: 35,493,480 (GRCm39)	V521A	probably benign	Het

Other mutations in Jakmip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Jakmip2	APN	18	43,723,744 (GRCm39)	utr 5 prime	probably benign
IGL01311:Jakmip2	APN	18	43,690,389 (GRCm39)	splice site	probably benign
IGL01467:Jakmip2	APN	18	43,715,352 (GRCm39)	missense	probably benign	0.34
IGL01947:Jakmip2	APN	18	43,680,159 (GRCm39)	missense	probably benign	0.00
IGL02010:Jakmip2	APN	18	43,692,158 (GRCm39)	critical splice donor site	probably null
IGL02040:Jakmip2	APN	18	43,704,919 (GRCm39)	missense	probably benign
IGL02143:Jakmip2	APN	18	43,696,350 (GRCm39)	missense	probably damaging	1.00
IGL02246:Jakmip2	APN	18	43,700,223 (GRCm39)	missense	possibly damaging	0.82
IGL02350:Jakmip2	APN	18	43,680,192 (GRCm39)	missense	possibly damaging	0.46
IGL02357:Jakmip2	APN	18	43,680,192 (GRCm39)	missense	possibly damaging	0.46
IGL02725:Jakmip2	APN	18	43,695,655 (GRCm39)	missense	probably damaging	0.99
IGL02833:Jakmip2	APN	18	43,708,516 (GRCm39)	splice site	probably benign
IGL02866:Jakmip2	APN	18	43,685,266 (GRCm39)	missense	probably benign	0.28
IGL02981:Jakmip2	APN	18	43,695,595 (GRCm39)	critical splice donor site	probably null
R0042:Jakmip2	UTSW	18	43,685,210 (GRCm39)	splice site	probably benign
R0044:Jakmip2	UTSW	18	43,715,170 (GRCm39)	missense	probably benign
R0436:Jakmip2	UTSW	18	43,691,234 (GRCm39)	nonsense	probably null
R1453:Jakmip2	UTSW	18	43,692,279 (GRCm39)	splice site	probably null
R1682:Jakmip2	UTSW	18	43,714,896 (GRCm39)	critical splice donor site	probably null
R1829:Jakmip2	UTSW	18	43,715,145 (GRCm39)	missense	possibly damaging	0.93
R1908:Jakmip2	UTSW	18	43,700,209 (GRCm39)	missense	probably benign
R2070:Jakmip2	UTSW	18	43,696,395 (GRCm39)	missense	probably benign	0.34
R2168:Jakmip2	UTSW	18	43,698,995 (GRCm39)	missense	probably damaging	1.00
R2985:Jakmip2	UTSW	18	43,704,246 (GRCm39)	missense	possibly damaging	0.79
R3896:Jakmip2	UTSW	18	43,682,751 (GRCm39)	missense	probably benign	0.00
R4243:Jakmip2	UTSW	18	43,710,501 (GRCm39)	missense	probably benign	0.02
R4245:Jakmip2	UTSW	18	43,710,501 (GRCm39)	missense	probably benign	0.02
R4614:Jakmip2	UTSW	18	43,695,657 (GRCm39)	missense	probably damaging	1.00
R4687:Jakmip2	UTSW	18	43,710,477 (GRCm39)	missense	possibly damaging	0.52
R4830:Jakmip2	UTSW	18	43,700,208 (GRCm39)	missense	probably benign	0.00
R5099:Jakmip2	UTSW	18	43,701,173 (GRCm39)	missense	probably benign	0.20
R5381:Jakmip2	UTSW	18	43,715,025 (GRCm39)	missense	probably damaging	1.00
R5753:Jakmip2	UTSW	18	43,692,181 (GRCm39)	missense	probably damaging	0.99
R5883:Jakmip2	UTSW	18	43,715,059 (GRCm39)	missense	possibly damaging	0.59
R6261:Jakmip2	UTSW	18	43,708,599 (GRCm39)	missense	probably benign	0.01
R6382:Jakmip2	UTSW	18	43,704,244 (GRCm39)	missense	possibly damaging	0.66
R6527:Jakmip2	UTSW	18	43,689,589 (GRCm39)	missense	possibly damaging	0.94
R6612:Jakmip2	UTSW	18	43,690,432 (GRCm39)	missense	probably damaging	1.00
R6679:Jakmip2	UTSW	18	43,699,014 (GRCm39)	missense	probably damaging	0.98
R7070:Jakmip2	UTSW	18	43,690,393 (GRCm39)	critical splice donor site	probably null
R7103:Jakmip2	UTSW	18	43,673,648 (GRCm39)	splice site	probably null
R7434:Jakmip2	UTSW	18	43,690,444 (GRCm39)	missense	possibly damaging	0.94
R7446:Jakmip2	UTSW	18	43,710,390 (GRCm39)	missense	probably damaging	1.00
R7515:Jakmip2	UTSW	18	43,704,191 (GRCm39)	missense	probably benign	0.01
R7586:Jakmip2	UTSW	18	43,673,676 (GRCm39)	missense	probably damaging	0.98
R7720:Jakmip2	UTSW	18	43,704,973 (GRCm39)	missense	possibly damaging	0.51
R7999:Jakmip2	UTSW	18	43,696,398 (GRCm39)	missense	probably benign	0.21
R9002:Jakmip2	UTSW	18	43,715,323 (GRCm39)	missense	probably benign	0.05
R9184:Jakmip2	UTSW	18	43,715,352 (GRCm39)	missense	probably benign	0.34
R9248:Jakmip2	UTSW	18	43,685,242 (GRCm39)	missense	probably benign	0.04
R9252:Jakmip2	UTSW	18	43,715,194 (GRCm39)	missense	possibly damaging	0.92
R9674:Jakmip2	UTSW	18	43,704,961 (GRCm39)	missense	probably benign
R9691:Jakmip2	UTSW	18	43,673,685 (GRCm39)	missense	probably damaging	0.99
R9788:Jakmip2	UTSW	18	43,704,927 (GRCm39)	missense	probably damaging	1.00
X0057:Jakmip2	UTSW	18	43,699,035 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- CCTGTTCCCAAGATACACTCTG -3'
(R):5'- TGGGGAAAACAGGATTCGTTC -3'

Sequencing Primer
(F):5'- TCCCAAGATACACTCTGGATTTATAG -3'
(R):5'- ACAGGATTCGTTCATAGCATGGTC -3'

Posted On

2016-03-01