Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02246:Jakmip2'

286199

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jakmip2

Ensembl Gene

ENSMUSG00000024502

Gene Name

janus kinase and microtubule interacting protein 2

Synonyms

6430702L21Rik, D930046L20Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02246

Quality Score

Status

Chromosome

Chromosomal Location

43664472-43820838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43700223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 445 (E445G)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082254
AA Change: E445G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: E445G

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	G	T	4: 123,754,655 (GRCm39)	D190Y	probably damaging	Het
Acat1	G	A	9: 53,496,166 (GRCm39)	L324F	probably benign	Het
Ago2	T	C	15: 72,980,267 (GRCm39)	H743R	probably damaging	Het
Ahnak	A	T	19: 8,985,632 (GRCm39)	L2305F	probably damaging	Het
Ankhd1	T	A	18: 36,789,779 (GRCm39)	H2438Q	probably damaging	Het
Atm	G	T	9: 53,438,485 (GRCm39)	Q162K	probably benign	Het
Bpifa6	A	T	2: 153,831,196 (GRCm39)	E254V	probably damaging	Het
Carns1	T	A	19: 4,216,431 (GRCm39)	N584Y	possibly damaging	Het
Cmklr1	T	C	5: 113,752,461 (GRCm39)	N180S	probably benign	Het
Col6a5	G	A	9: 105,788,306 (GRCm39)	R1565*	probably null	Het
Fbxo43	T	A	15: 36,162,842 (GRCm39)	I122L	probably benign	Het
Fibp	A	G	19: 5,513,264 (GRCm39)	Y193C	probably damaging	Het
Gm10923	A	G	15: 85,001,132 (GRCm39)		probably benign	Het
Il12rb2	A	G	6: 67,285,940 (GRCm39)		probably null	Het
Krcc1	G	A	6: 71,261,405 (GRCm39)	D146N	probably benign	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Map2k5	A	T	9: 63,284,411 (GRCm39)	D43E	probably benign	Het
Nup155	A	G	15: 8,172,486 (GRCm39)	K824R	probably benign	Het
Or2o1	T	C	11: 49,050,921 (GRCm39)	S27P	probably benign	Het
Or51g2	T	C	7: 102,622,951 (GRCm39)	T83A	possibly damaging	Het
Phkg1	G	A	5: 129,893,479 (GRCm39)	R324W	probably damaging	Het
Plcd1	G	A	9: 118,901,677 (GRCm39)	L616F	probably benign	Het
Rnf141	A	T	7: 110,424,494 (GRCm39)	S122T	probably benign	Het
Tap1	G	A	17: 34,412,963 (GRCm39)	V593M	probably benign	Het
Ticrr	T	C	7: 79,325,076 (GRCm39)	L534P	probably damaging	Het
Ubr4	G	T	4: 139,186,414 (GRCm39)	E640D	possibly damaging	Het
Vmn1r169	A	C	7: 23,276,661 (GRCm39)	I18L	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
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
R4852:Jakmip2	UTSW	18	43,710,465 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16