Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Jakmip3'

551775

Institutional Source

Beutler Lab

Gene Symbol

Jakmip3

Ensembl Gene

ENSMUSG00000056856

Gene Name

janus kinase and microtubule interacting protein 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138940730-139083976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139020250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 293 (V293A)

Ref Sequence

ENSEMBL: ENSMUSP00000148120 (fasta)

Gene Model

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

AlphaFold

Q5DTN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106111
AA Change: V293A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: V293A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166163
AA Change: V365A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: V365A

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

possibly damaging
Transcript: ENSMUST00000209297
AA Change: V293A

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	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
R7191:Jakmip3	UTSW	7	138989528	splice site	probably null
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
R8886:Jakmip3	UTSW	7	139007442	missense	probably benign	0.01
R9109:Jakmip3	UTSW	7	139020831	missense	probably damaging	0.98
R9576:Jakmip3	UTSW	7	139020259	missense	probably damaging	0.97
R9629:Jakmip3	UTSW	7	139023389	critical splice donor site	probably null
R9643:Jakmip3	UTSW	7	139020186	missense	probably damaging	1.00
Z1176:Jakmip3	UTSW	7	139020133	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- ACAGCTCTCTGGCCACTTTG -3'
(R):5'- CTGAAAGTCCTGTCCTTCTATACG -3'

Sequencing Primer
(F):5'- GTACAAAGACCTGTCAGTTCTGC -3'
(R):5'- ATACGCGAGGCCTCTTGCTAC -3'

Posted On

2019-05-15