Mutagenetix > Incidental Mutation

Incidental Mutation 'R9576:Jakmip3'

722286

Institutional Source

Beutler Lab

Gene Symbol

Jakmip3

Ensembl Gene

ENSMUSG00000056856

Gene Name

janus kinase and microtubule interacting protein 3

Synonyms

6330417G02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R9576 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138542459-138663892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138621988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 296 (E296G)

Ref Sequence

ENSEMBL: ENSMUSP00000148120 (fasta)

Gene Model

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

AlphaFold

Q5DTN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000106111
AA Change: E296G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: E296G

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: E368G

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

SMART Domains

Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: E368G

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 damaging
Transcript: ENSMUST00000209297
AA Change: E296G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,947,843 (GRCm39)	I580N	probably benign	Het
Aars1	T	A	8: 111,768,296 (GRCm39)	Y222*	probably null	Het
Abi2	G	T	1: 60,449,008 (GRCm39)	R16L	possibly damaging	Het
Adam9	C	A	8: 25,445,953 (GRCm39)	V814F	probably benign	Het
Adgrv1	T	C	13: 81,691,608 (GRCm39)	T1660A	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Arhgap26	T	A	18: 39,253,207 (GRCm39)	Y211*	probably null	Het
Ascc3	T	C	10: 50,494,254 (GRCm39)	Y230H	possibly damaging	Het
Btg4	C	A	9: 51,030,436 (GRCm39)	Q179K	probably damaging	Het
Ccdc150	G	T	1: 54,407,544 (GRCm39)	E1107*	probably null	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cd200r4	A	G	16: 44,658,338 (GRCm39)	T241A		Het
Chd9	T	A	8: 91,659,294 (GRCm39)	S85T	unknown	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Col6a4	C	A	9: 105,945,271 (GRCm39)	A948S	probably benign	Het
Crygb	T	C	1: 65,119,686 (GRCm39)	D98G	probably benign	Het
Ctbp2	A	T	7: 132,616,198 (GRCm39)	S246T	probably benign	Het
Dcp1b	T	A	6: 119,196,993 (GRCm39)	Y563*	probably null	Het
Ddx59	T	A	1: 136,344,681 (GRCm39)	Y117*	probably null	Het
Dhx30	A	G	9: 109,916,712 (GRCm39)	L601P	probably damaging	Het
Dnah5	C	T	15: 28,272,286 (GRCm39)	T1030M	probably benign	Het
Dpp10	A	G	1: 123,269,409 (GRCm39)	S667P	probably damaging	Het
Epha7	G	A	4: 28,870,659 (GRCm39)	C312Y	probably damaging	Het
Gbf1	A	T	19: 46,248,122 (GRCm39)	T300S	probably benign	Het
Glp2r	T	C	11: 67,655,622 (GRCm39)	K40R	probably benign	Het
H2-Q5	G	A	17: 35,613,413 (GRCm39)	V49M		Het
Havcr1	T	A	11: 46,669,391 (GRCm39)	V290E	probably benign	Het
Hc	T	A	2: 34,873,767 (GRCm39)	T1656S	probably benign	Het
Hfm1	A	T	5: 107,021,938 (GRCm39)	I999N	probably benign	Het
Hoxc4	A	T	15: 102,944,384 (GRCm39)	E254V	probably benign	Het
Il5ra	T	C	6: 106,712,688 (GRCm39)	N275S	probably damaging	Het
Itfg2	C	A	6: 128,389,950 (GRCm39)	A272S	probably benign	Het
Itpr2	A	T	6: 146,212,505 (GRCm39)	I1537N	probably damaging	Het
Jchain	T	G	5: 88,673,976 (GRCm39)	E56A	probably damaging	Het
Kcnh5	A	T	12: 74,944,307 (GRCm39)	S981T	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Klk1b4	A	T	7: 43,860,477 (GRCm39)	D165V	probably benign	Het
Krt1c	T	A	15: 101,719,792 (GRCm39)	Y626F	unknown	Het
Lrrk2	T	A	15: 91,636,388 (GRCm39)	L1454*	probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo18a	T	A	11: 77,709,827 (GRCm39)	I607N	probably damaging	Het
Nefh	C	T	11: 4,891,222 (GRCm39)	E466K	possibly damaging	Het
Nudc	T	C	4: 133,262,989 (GRCm39)	E118G	probably benign	Het
Or2aj6	A	T	16: 19,442,961 (GRCm39)	D296E	probably damaging	Het
Or56a3	T	C	7: 104,735,760 (GRCm39)	L279S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,998,855 (GRCm39)	M1142K	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plec	C	A	15: 76,115,377 (GRCm39)	A66S	probably benign	Het
Plekha7	T	C	7: 115,728,669 (GRCm39)	Y1199C	possibly damaging	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Prkag3	A	T	1: 74,787,082 (GRCm39)	W59R		Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Serpina3i	A	G	12: 104,234,730 (GRCm39)	T354A	probably benign	Het
Skap1	T	C	11: 96,472,030 (GRCm39)	F101S	probably benign	Het
Slc16a8	T	A	15: 79,136,182 (GRCm39)	Q340L	probably damaging	Het
Slc2a12	A	T	10: 22,578,004 (GRCm39)	Q600L	possibly damaging	Het
Slc39a14	T	G	14: 70,556,235 (GRCm39)	D47A	probably benign	Het
Slfn9	T	A	11: 82,878,211 (GRCm39)	Y306F	possibly damaging	Het
Sos1	T	C	17: 80,742,367 (GRCm39)	M387V	probably benign	Het
Srl	A	T	16: 4,301,031 (GRCm39)	L680Q	probably damaging	Het
Tas1r3	C	T	4: 155,946,822 (GRCm39)	R261H	probably benign	Het
Tm7sf3	C	A	6: 146,511,335 (GRCm39)	G385W	probably damaging	Het
Tmem191	C	T	16: 17,094,526 (GRCm39)	R62*	probably null	Het
Triobp	T	C	15: 78,844,266 (GRCm39)	S161P	probably damaging	Het
Usp13	A	T	3: 32,969,135 (GRCm39)		probably null	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn2r50	T	C	7: 9,771,190 (GRCm39)	Q837R	probably benign	Het
Zfp618	T	C	4: 63,051,282 (GRCm39)	S688P	probably benign	Het

Other mutations in Jakmip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Jakmip3	APN	7	138,619,302 (GRCm39)	missense	possibly damaging	0.71
IGL01095:Jakmip3	APN	7	138,622,546 (GRCm39)	missense	probably damaging	1.00
IGL01356:Jakmip3	APN	7	138,619,341 (GRCm39)	missense	probably damaging	0.99
IGL01718:Jakmip3	APN	7	138,591,121 (GRCm39)	missense	possibly damaging	0.94
IGL01759:Jakmip3	APN	7	138,622,633 (GRCm39)	missense	probably damaging	0.97
IGL02149:Jakmip3	APN	7	138,609,075 (GRCm39)	missense	possibly damaging	0.57
IGL02152:Jakmip3	APN	7	138,627,217 (GRCm39)	missense	probably damaging	1.00
IGL02691:Jakmip3	APN	7	138,628,573 (GRCm39)	nonsense	probably null
R1175:Jakmip3	UTSW	7	138,629,515 (GRCm39)	missense	probably damaging	1.00
R1439:Jakmip3	UTSW	7	138,631,375 (GRCm39)	missense	probably benign	0.00
R1509:Jakmip3	UTSW	7	138,629,505 (GRCm39)	missense	possibly damaging	0.94
R1868:Jakmip3	UTSW	7	138,609,316 (GRCm39)	missense	probably benign	0.04
R1938:Jakmip3	UTSW	7	138,621,867 (GRCm39)	missense	probably damaging	0.97
R2566:Jakmip3	UTSW	7	138,591,197 (GRCm39)	missense	possibly damaging	0.88
R3418:Jakmip3	UTSW	7	138,619,474 (GRCm39)	intron	probably benign
R4825:Jakmip3	UTSW	7	138,628,495 (GRCm39)	missense	probably damaging	1.00
R5011:Jakmip3	UTSW	7	138,621,951 (GRCm39)	missense	probably damaging	1.00
R5327:Jakmip3	UTSW	7	138,627,164 (GRCm39)	missense	possibly damaging	0.54
R5519:Jakmip3	UTSW	7	138,609,520 (GRCm39)	missense	probably damaging	1.00
R6291:Jakmip3	UTSW	7	138,622,585 (GRCm39)	missense	probably damaging	1.00
R6393:Jakmip3	UTSW	7	138,620,900 (GRCm39)	missense	probably damaging	1.00
R6960:Jakmip3	UTSW	7	138,625,065 (GRCm39)	missense	probably damaging	1.00
R7116:Jakmip3	UTSW	7	138,621,979 (GRCm39)	missense	possibly damaging	0.87
R7191:Jakmip3	UTSW	7	138,591,257 (GRCm39)	splice site	probably null
R7232:Jakmip3	UTSW	7	138,609,355 (GRCm39)	missense	probably benign	0.00
R7385:Jakmip3	UTSW	7	138,625,068 (GRCm39)	missense	possibly damaging	0.55
R7482:Jakmip3	UTSW	7	138,627,228 (GRCm39)	missense	possibly damaging	0.84
R7657:Jakmip3	UTSW	7	138,620,903 (GRCm39)	missense	probably damaging	1.00
R7814:Jakmip3	UTSW	7	138,620,858 (GRCm39)	missense	probably damaging	1.00
R8321:Jakmip3	UTSW	7	138,628,613 (GRCm39)	missense	probably benign
R8886:Jakmip3	UTSW	7	138,609,171 (GRCm39)	missense	probably benign	0.01
R9109:Jakmip3	UTSW	7	138,622,560 (GRCm39)	missense	probably damaging	0.98
R9629:Jakmip3	UTSW	7	138,625,118 (GRCm39)	critical splice donor site	probably null
R9643:Jakmip3	UTSW	7	138,621,915 (GRCm39)	missense	probably damaging	1.00
Z1176:Jakmip3	UTSW	7	138,621,862 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GTTCTGCATCACTTAAAAGCTCAC -3'
(R):5'- TGGAGTTTACCCTGACACCTG -3'

Sequencing Primer
(F):5'- GCATCACTTAAAAGCTCACATTATGG -3'
(R):5'- GAAAGTCCTGTCCTTCTATACGCGAG -3'

Posted On

2022-08-09