Mutagenetix > Incidental Mutation

Incidental Mutation 'R4330:Jmy'

324574

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 #

R4330 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

93566609-93636316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 93635390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 142 (P142R)

Ref Sequence

ENSEMBL: ENSMUSP00000152402 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065537
AA Change: P142R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: P142R

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 damaging
Transcript: ENSMUST00000220513
AA Change: P142R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	A	8: 44,079,287 (GRCm39)	K312N	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Cdh10	G	A	15: 19,000,045 (GRCm39)	V497I	probably damaging	Het
Chd4	T	C	6: 125,078,565 (GRCm39)	V229A	probably benign	Het
Cnr2	T	A	4: 135,644,237 (GRCm39)	I105N	possibly damaging	Het
Dnai1	A	G	4: 41,637,966 (GRCm39)	T701A	probably damaging	Het
Eri1	G	A	8: 35,936,383 (GRCm39)	R313*	probably null	Het
Hrh3	T	C	2: 179,741,665 (GRCm39)		probably benign	Het
Hs3st5	T	A	10: 36,708,726 (GRCm39)	V87D	probably benign	Het
Mfsd4a	A	C	1: 131,981,291 (GRCm39)	M320R	possibly damaging	Het
Myocd	A	T	11: 65,114,590 (GRCm39)	H49Q	probably benign	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Rabl2	T	C	15: 89,471,137 (GRCm39)	D66G	probably benign	Het
Ramp1	C	T	1: 91,151,067 (GRCm39)	T144I	possibly damaging	Het
Rhbdf2	T	C	11: 116,492,782 (GRCm39)	K413R	probably benign	Het
Scpep1	G	A	11: 88,826,729 (GRCm39)	Q236*	probably null	Het
Stil	A	G	4: 114,862,176 (GRCm39)	R40G	probably damaging	Het
Syt7	T	C	19: 10,399,162 (GRCm39)	V86A	probably damaging	Het
Ubr2	A	T	17: 47,278,204 (GRCm39)	L711Q	probably null	Het
Vmn1r78	T	A	7: 11,886,386 (GRCm39)		probably null	Het
Zfp280d	C	T	9: 72,203,261 (GRCm39)	T3I	possibly damaging	Het
Zscan25	T	A	5: 145,227,361 (GRCm39)	F342I	probably damaging	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	93,635,781 (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
R9063:Jmy	UTSW	13	93,635,580 (GRCm39)	missense	probably benign	0.22
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'- TCCTGGAAGGAGAAAAGCCC -3'
(R):5'- AGTTTGCTATAACCTGTCACAACCG -3'

Sequencing Primer
(F):5'- ATTCTTCGGCCGGAGACTC -3'
(R):5'- TATAACCTGTCACAACCGGACGG -3'

Posted On

2015-06-24