Mutagenetix > Incidental Mutation

Incidental Mutation 'R9063:Jmy'

689117

Institutional Source

Beutler Lab

Gene Symbol

Jmy

Ensembl Gene

ENSMUSG00000021690

Gene Name

junction-mediating and regulatory protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R9063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93566609-93636316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93635580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 79 (R79G)

Ref Sequence

ENSEMBL: ENSMUSP00000070339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065537] [ENSMUST00000220513]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065537
AA Change: R79G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: R79G

Domain	Start	End	E-Value	Type
Pfam:WHAMM-JMY_N	5	55	6.2e-30	PFAM
low complexity region	77	94	N/A	INTRINSIC
low complexity region	117	128	N/A	INTRINSIC
low complexity region	152	181	N/A	INTRINSIC
low complexity region	202	217	N/A	INTRINSIC
Pfam:JMY	220	574	2.2e-175	PFAM
SCOP:d1jvr__	794	816	4e-3	SMART
WH2	916	933	2.21e-2	SMART
low complexity region	964	975	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220513
AA Change: R79G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 115,703,660 (GRCm39)	S178A	probably benign	Het
Add3	T	C	19: 53,222,302 (GRCm39)	L303P	probably damaging	Het
Agr2	T	A	12: 36,053,898 (GRCm39)	*176K	probably null	Het
Apobr	C	T	7: 126,185,920 (GRCm39)	T477I	probably benign	Het
Cdca7l	G	A	12: 117,838,536 (GRCm39)	V336M	probably damaging	Het
Cep63	T	G	9: 102,496,227 (GRCm39)	H18P	unknown	Het
Copa	A	G	1: 171,944,529 (GRCm39)	D838G	probably benign	Het
Cspg4	G	T	9: 56,795,687 (GRCm39)	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,497,002 (GRCm39)	T146A	probably benign	Het
Dapk1	A	T	13: 60,866,264 (GRCm39)	I206L	probably benign	Het
Emsy	C	T	7: 98,295,684 (GRCm39)	D73N	probably damaging	Het
Esr2	A	T	12: 76,168,590 (GRCm39)	Y540N	probably benign	Het
Exoc7	C	A	11: 116,180,101 (GRCm39)	V668L	probably benign	Het
Fcgbp	C	T	7: 27,791,277 (GRCm39)	T846I	probably damaging	Het
Fhod3	A	G	18: 25,153,772 (GRCm39)	E418G	probably damaging	Het
Fryl	G	A	5: 73,238,346 (GRCm39)	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,249,558 (GRCm39)	I520T	probably benign	Het
Gfod1	A	G	13: 43,354,280 (GRCm39)	C232R	probably benign	Het
Gpr61	T	C	3: 108,057,555 (GRCm39)	R369G	probably benign	Het
Hk1	T	C	10: 62,122,429 (GRCm39)	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnn4	T	A	7: 24,076,934 (GRCm39)	V161E	probably damaging	Het
Kif15	T	A	9: 122,833,706 (GRCm39)	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,466,654 (GRCm39)	L543S	probably damaging	Het
Kpna2	A	G	11: 106,883,489 (GRCm39)	I81T	probably benign	Het
Krt12	A	G	11: 99,307,757 (GRCm39)	S444P	probably benign	Het
Lmnb2	C	T	10: 80,742,005 (GRCm39)	V29M	probably benign	Het
Lmod2	T	C	6: 24,603,364 (GRCm39)	V113A	probably benign	Het
Lrp1b	T	C	2: 41,231,838 (GRCm39)	T1211A		Het
Lrrc8d	T	C	5: 105,961,959 (GRCm39)	S790P	probably damaging	Het
Map3k4	A	G	17: 12,482,878 (GRCm39)	V613A	probably damaging	Het
Marveld2	T	C	13: 100,748,653 (GRCm39)	N142S	probably benign	Het
Mgll	G	A	6: 88,802,690 (GRCm39)	V282I	possibly damaging	Het
Mief2	G	A	11: 60,622,314 (GRCm39)	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,120,567 (GRCm39)	H479L	probably benign	Het
Myh15	T	A	16: 48,913,118 (GRCm39)	N358K	probably benign	Het
Mzf1	T	G	7: 12,787,005 (GRCm39)	K101Q	probably damaging	Het
Ncbp3	T	A	11: 72,964,253 (GRCm39)	L401Q	probably damaging	Het
Nck2	T	C	1: 43,593,503 (GRCm39)	C237R	possibly damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Nol11	A	G	11: 107,064,240 (GRCm39)	V524A	probably benign	Het
Nol11	T	C	11: 107,069,857 (GRCm39)	Y331C	possibly damaging	Het
Nsmf	A	T	2: 24,952,622 (GRCm39)	H149L	probably benign	Het
Olfm3	T	C	3: 114,914,582 (GRCm39)	V231A	probably benign	Het
Or1l4b	A	T	2: 37,036,646 (GRCm39)	M141L	probably benign	Het
Or51a6	A	G	7: 102,604,446 (GRCm39)	S121P	probably benign	Het
Or55b4	T	C	7: 102,133,931 (GRCm39)	Y132C	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,739 (GRCm39)	F178Y	probably damaging	Het
Plk2	T	A	13: 110,532,920 (GRCm39)	S160R	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,306,279 (GRCm39)	N33D	probably benign	Het
Ptpn23	T	C	9: 110,218,693 (GRCm39)	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,720,431 (GRCm39)	H356R	probably benign	Het
Rbsn	G	T	6: 92,171,000 (GRCm39)	T307K	probably benign	Het
Rnf19a	G	A	15: 36,265,615 (GRCm39)	Q161*	probably null	Het
Scin	T	C	12: 40,134,336 (GRCm39)	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,385,558 (GRCm39)	R755H	possibly damaging	Het
Sik3	C	T	9: 46,123,735 (GRCm39)	T1178I	probably benign	Het
Slc49a3	A	G	5: 108,590,103 (GRCm39)	L433P	probably damaging	Het
Tex26	C	T	5: 149,393,826 (GRCm39)	R272C	probably damaging	Het
Trim60	T	A	8: 65,453,465 (GRCm39)	K261N	possibly damaging	Het
Tspan9	A	G	6: 127,944,072 (GRCm39)	I76T	probably damaging	Het
Ttn	T	A	2: 76,588,833 (GRCm39)	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,710,907 (GRCm39)	I8409N	unknown	Het
Unc80	T	C	1: 66,645,816 (GRCm39)		probably null	Het
Ush2a	A	T	1: 187,995,457 (GRCm39)	Q76L	probably benign	Het
Usp1	G	A	4: 98,819,389 (GRCm39)	V284I	probably benign	Het
Usp31	A	G	7: 121,306,466 (GRCm39)	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,648,329 (GRCm39)		probably benign	Het
Zfp959	G	A	17: 56,204,221 (GRCm39)	R86K	probably benign	Het

Other mutations in Jmy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Jmy	APN	13	93,577,910 (GRCm39)	missense	probably benign	0.00
IGL00949:Jmy	APN	13	93,590,510 (GRCm39)	missense	probably damaging	1.00
IGL01111:Jmy	APN	13	93,577,529 (GRCm39)	missense	probably damaging	1.00
IGL01734:Jmy	APN	13	93,596,159 (GRCm39)	missense	probably damaging	1.00
IGL01926:Jmy	APN	13	93,596,294 (GRCm39)	missense	probably damaging	1.00
IGL01985:Jmy	APN	13	93,596,144 (GRCm39)	missense	possibly damaging	0.58
IGL02183:Jmy	APN	13	93,635,750 (GRCm39)	missense	possibly damaging	0.78
IGL02517:Jmy	APN	13	93,589,316 (GRCm39)	missense	probably benign	0.01
IGL02524:Jmy	APN	13	93,609,268 (GRCm39)	missense	probably damaging	1.00
IGL02697:Jmy	APN	13	93,596,209 (GRCm39)	nonsense	probably null
IGL03024:Jmy	APN	13	93,635,707 (GRCm39)	missense	probably damaging	1.00
R0242:Jmy	UTSW	13	93,578,126 (GRCm39)	missense	probably benign	0.07
R0242:Jmy	UTSW	13	93,578,126 (GRCm39)	missense	probably benign	0.07
R0623:Jmy	UTSW	13	93,589,325 (GRCm39)	missense	probably benign	0.37
R0623:Jmy	UTSW	13	93,589,325 (GRCm39)	missense	probably benign	0.37
R0722:Jmy	UTSW	13	93,589,325 (GRCm39)	missense	probably benign	0.37
R1533:Jmy	UTSW	13	93,577,819 (GRCm39)	missense	probably benign
R1667:Jmy	UTSW	13	93,634,878 (GRCm39)	missense	probably damaging	1.00
R1737:Jmy	UTSW	13	93,635,303 (GRCm39)	missense	probably damaging	0.99
R1815:Jmy	UTSW	13	93,590,585 (GRCm39)	missense	probably damaging	1.00
R2057:Jmy	UTSW	13	93,596,211 (GRCm39)	missense	probably damaging	1.00
R3522:Jmy	UTSW	13	93,590,558 (GRCm39)	missense	probably damaging	1.00
R3765:Jmy	UTSW	13	93,601,219 (GRCm39)	missense	possibly damaging	0.78
R4231:Jmy	UTSW	13	93,635,433 (GRCm39)	missense	probably benign
R4279:Jmy	UTSW	13	93,635,781 (GRCm39)	missense	probably damaging	1.00
R4279:Jmy	UTSW	13	93,635,390 (GRCm39)	missense	probably damaging	1.00
R4330:Jmy	UTSW	13	93,635,390 (GRCm39)	missense	probably damaging	1.00
R4330:Jmy	UTSW	13	93,635,781 (GRCm39)	missense	probably damaging	1.00
R4845:Jmy	UTSW	13	93,576,246 (GRCm39)	missense	possibly damaging	0.80
R5047:Jmy	UTSW	13	93,578,080 (GRCm39)	missense	possibly damaging	0.65
R5403:Jmy	UTSW	13	93,577,904 (GRCm39)	missense	probably benign	0.08
R5941:Jmy	UTSW	13	93,635,333 (GRCm39)	missense	probably benign
R5953:Jmy	UTSW	13	93,635,624 (GRCm39)	missense	possibly damaging	0.62
R6022:Jmy	UTSW	13	93,590,086 (GRCm39)	splice site	probably null
R6150:Jmy	UTSW	13	93,577,641 (GRCm39)	missense	probably benign	0.10
R6520:Jmy	UTSW	13	93,590,547 (GRCm39)	missense	probably benign	0.10
R7073:Jmy	UTSW	13	93,577,841 (GRCm39)	missense	probably benign	0.01
R7074:Jmy	UTSW	13	93,590,439 (GRCm39)	missense	probably benign	0.15
R7325:Jmy	UTSW	13	93,609,251 (GRCm39)	missense	probably damaging	0.99
R7575:Jmy	UTSW	13	93,601,103 (GRCm39)	nonsense	probably null
R7641:Jmy	UTSW	13	93,579,107 (GRCm39)	missense	probably damaging	1.00
R7674:Jmy	UTSW	13	93,579,107 (GRCm39)	missense	probably damaging	1.00
R7862:Jmy	UTSW	13	93,635,703 (GRCm39)	missense	possibly damaging	0.75
R8278:Jmy	UTSW	13	93,601,224 (GRCm39)	missense	probably damaging	1.00
R8416:Jmy	UTSW	13	93,634,949 (GRCm39)	missense	probably damaging	1.00
R8987:Jmy	UTSW	13	93,589,397 (GRCm39)	missense	probably damaging	1.00
R9196:Jmy	UTSW	13	93,601,209 (GRCm39)	missense	probably damaging	1.00
R9255:Jmy	UTSW	13	93,589,894 (GRCm39)	critical splice donor site	probably null
R9402:Jmy	UTSW	13	93,635,678 (GRCm39)	missense	probably damaging	0.99
Z1088:Jmy	UTSW	13	93,577,589 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCATTTCCAGGACCTCGATC -3'
(R):5'- GCCGCGTATTGTCTCTTCTGAG -3'

Sequencing Primer
(F):5'- ATCTCGGGATTCGGCGCTTC -3'
(R):5'- ACCGGAGCTACCATGTCGTTC -3'

Posted On

2021-11-19