Mutagenetix > Incidental Mutation

Incidental Mutation 'R2985:Jakmip2'

257792

Institutional Source

Beutler Lab

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 #

R2985 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43664472-43820838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43704246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 366 (T366I)

Ref Sequence

ENSEMBL: ENSMUSP00000080881 (fasta)

Gene Model

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

AlphaFold

D3YXK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082254
AA Change: T366I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: T366I

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: 99.4%
3x: 98.7%
10x: 97.2%
20x: 94.7%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Ccdc83	A	G	7: 89,885,575 (GRCm39)		probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Cul1	T	A	6: 47,479,441 (GRCm39)	F236I	probably damaging	Het
Etl4	T	C	2: 20,786,660 (GRCm39)	V470A	probably damaging	Het
Fndc1	T	C	17: 7,975,155 (GRCm39)	E1428G	possibly damaging	Het
Gal3st1	A	G	11: 3,948,618 (GRCm39)	Y275C	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Obscn	A	G	11: 59,023,915 (GRCm39)	F585S	probably damaging	Het
Or8b56	G	A	9: 38,739,406 (GRCm39)	V140I	probably benign	Het
Oxld1	T	C	11: 120,347,862 (GRCm39)	T112A	probably benign	Het
Pcdha9	A	G	18: 37,131,255 (GRCm39)	N108S	possibly damaging	Het
Pkd1l2	T	C	8: 117,792,290 (GRCm39)	S501G	probably benign	Het
Pls1	G	A	9: 95,667,635 (GRCm39)	T91M	possibly damaging	Het
Prr12	G	C	7: 44,695,436 (GRCm39)	S1343R	unknown	Het
Trpm5	G	T	7: 142,636,675 (GRCm39)	L421I	probably damaging	Het
Ttn	A	T	2: 76,574,618 (GRCm39)	V25425E	probably damaging	Het
Zfp112	A	G	7: 23,821,720 (GRCm39)	D20G	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
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

Predicted Primers

PCR Primer
(F):5'- GCGGGCATTTGAAATGAAACC -3'
(R):5'- AACGTACTCGGCCATTTTAGTTC -3'

Sequencing Primer
(F):5'- ACCAGAAGTATGAAGTGCTTTGTG -3'
(R):5'- ACTCGGCCATTTTAGTTCATGTATG -3'

Posted On

2015-01-11