Mutagenetix > Incidental Mutations

Incidental Mutation 'R7191:Jakmip3'

568620

Institutional Source

Beutler Lab

Gene Symbol

Jakmip3

Ensembl Gene

ENSMUSG00000056856

Gene Name

janus kinase and microtubule interacting protein 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R7191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138940730-139083976 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 138989528 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106111] [ENSMUST00000166163] [ENSMUST00000209297]

Predicted Effect

probably null
Transcript: ENSMUST00000106111

SMART Domains

Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856

Domain	Start	End	E-Value	Type
coiled coil region	9	349	N/A	INTRINSIC
coiled coil region	421	452	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000166163

SMART Domains

Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856

Domain	Start	End	E-Value	Type
coiled coil region	9	255	N/A	INTRINSIC
low complexity region	270	282	N/A	INTRINSIC
coiled coil region	289	421	N/A	INTRINSIC
coiled coil region	493	524	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000209297

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	A	16: 21,653,564	I129F	probably benign	Het
Ank2	T	A	3: 126,946,392	T1948S	unknown	Het
Arap1	T	C	7: 101,384,992	C214R	probably benign	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Ccdc82	C	T	9: 13,252,472	Q130*	probably null	Het
Cfh	A	C	1: 140,112,567	V597G	probably benign	Het
Clp1	A	T	2: 84,724,146	C226*	probably null	Het
Cyp39a1	G	A	17: 43,731,019	W372*	probably null	Het
Dchs1	G	A	7: 105,765,439	P799S	possibly damaging	Het
Dmbt1	A	T	7: 131,044,520	N167I	unknown	Het
Dock10	A	G	1: 80,540,331	S1310P	possibly damaging	Het
Fam83h	C	T	15: 76,003,037	G817D	probably damaging	Het
Fras1	A	G	5: 96,614,912	T758A	probably benign	Het
Fryl	T	C	5: 73,072,912	H1634R	probably damaging	Het
Gcg	C	G	2: 62,476,839	G126A	probably damaging	Het
Gm4763	C	T	7: 24,723,334	V105I	possibly damaging	Het
Gm4951	A	T	18: 60,246,257	D288V	probably benign	Het
Gne	T	C	4: 44,040,266	K633E	probably benign	Het
Gpr4	T	C	7: 19,223,230	V359A	probably benign	Het
Gprc5c	C	T	11: 114,868,617	T422M	possibly damaging	Het
Gria2	C	A	3: 80,732,085	V207L	probably benign	Het
Hid1	T	C	11: 115,348,469	*789W	probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Krt16	T	C	11: 100,246,658	E407G	probably damaging	Het
Krt81	T	C	15: 101,460,229	D381G	probably damaging	Het
Lrrc34	C	T	3: 30,624,878	G357S	possibly damaging	Het
Mipol1	A	G	12: 57,457,066	Q340R	probably benign	Het
Mpzl3	T	G	9: 45,055,244	M1R	probably null	Het
Nrcam	A	G	12: 44,572,244	N852S	probably benign	Het
Nudcd2	C	T	11: 40,736,603	Q117*	probably null	Het
Nup35	A	T	2: 80,658,379	E320V	probably damaging	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr477	G	A	7: 107,990,646	V94M	possibly damaging	Het
Pkhd1	T	C	1: 20,558,719	H668R	probably benign	Het
Ptprc	T	A	1: 138,101,044	D333V	probably benign	Het
Rdh16	A	G	10: 127,813,418	K248E	probably benign	Het
Samd4b	C	A	7: 28,414,261	G93V	probably benign	Het
Scgn	A	G	13: 23,981,493	I78T	probably benign	Het
Slfn14	T	C	11: 83,276,749	I647V	probably benign	Het
Smyd5	T	C	6: 85,440,111	V157A	probably benign	Het
Syde2	T	C	3: 146,002,358	M951T	probably benign	Het
Tas2r105	T	C	6: 131,686,982	N161S	probably damaging	Het
Tbck	T	C	3: 132,737,555	F581L	probably damaging	Het
Traip	A	G	9: 107,970,017	N352D	probably benign	Het
Trim29	A	G	9: 43,311,609	Y245C	probably damaging	Het
Trpv4	T	C	5: 114,633,140	I443V	probably benign	Het
Usp36	C	T	11: 118,268,834	E595K	probably benign	Het
Vmn2r51	T	A	7: 10,100,553	Y186F	probably null	Het
Vmn2r97	A	G	17: 18,930,286	Y465C	probably damaging	Het
Wrb	A	G	16: 96,151,945	I79V	possibly damaging	Het
Zfp277	A	T	12: 40,329,562	H324Q	probably damaging	Het
Zfp987	A	G	4: 146,121,903	D17G	probably damaging	Het

Other mutations in Jakmip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Jakmip3	APN	7	139017573	missense	possibly damaging	0.71
IGL01095:Jakmip3	APN	7	139020817	missense	probably damaging	1.00
IGL01356:Jakmip3	APN	7	139017612	missense	probably damaging	0.99
IGL01718:Jakmip3	APN	7	138989392	missense	possibly damaging	0.94
IGL01759:Jakmip3	APN	7	139020904	missense	probably damaging	0.97
IGL02149:Jakmip3	APN	7	139007346	missense	possibly damaging	0.57
IGL02152:Jakmip3	APN	7	139025488	missense	probably damaging	1.00
IGL02691:Jakmip3	APN	7	139026844	nonsense	probably null
R1175:Jakmip3	UTSW	7	139027786	missense	probably damaging	1.00
R1439:Jakmip3	UTSW	7	139029646	missense	probably benign	0.00
R1509:Jakmip3	UTSW	7	139027776	missense	possibly damaging	0.94
R1868:Jakmip3	UTSW	7	139007587	missense	probably benign	0.04
R1938:Jakmip3	UTSW	7	139020138	missense	probably damaging	0.97
R2566:Jakmip3	UTSW	7	138989468	missense	possibly damaging	0.88
R3418:Jakmip3	UTSW	7	139017745	intron	probably benign
R4825:Jakmip3	UTSW	7	139026766	missense	probably damaging	1.00
R5011:Jakmip3	UTSW	7	139020222	missense	probably damaging	1.00
R5327:Jakmip3	UTSW	7	139025435	missense	possibly damaging	0.54
R5519:Jakmip3	UTSW	7	139007791	missense	probably damaging	1.00
R6291:Jakmip3	UTSW	7	139020856	missense	probably damaging	1.00
R6393:Jakmip3	UTSW	7	139019171	missense	probably damaging	1.00
R6960:Jakmip3	UTSW	7	139023336	missense	probably damaging	1.00
R7116:Jakmip3	UTSW	7	139020250	missense	possibly damaging	0.87
R7232:Jakmip3	UTSW	7	139007626	missense	probably benign	0.00
R7385:Jakmip3	UTSW	7	139023339	missense	possibly damaging	0.55
R7482:Jakmip3	UTSW	7	139025499	missense	possibly damaging	0.84
R7657:Jakmip3	UTSW	7	139019174	missense	probably damaging	1.00
R7814:Jakmip3	UTSW	7	139019129	missense	probably damaging	1.00
R8321:Jakmip3	UTSW	7	139026884	missense	probably benign
Z1176:Jakmip3	UTSW	7	139020133	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AATGTAACGGAGGACACCTGC -3'
(R):5'- GCTTTGAGCAAGAGACTTGGAG -3'

Sequencing Primer
(F):5'- CAAGAGTTTGGCGTGGATACCC -3'
(R):5'- CTTGGAGAAGGAGCTTAGGGC -3'

Posted On

2019-08-30