Mutagenetix > Incidental Mutation

Incidental Mutation 'R0623:Jmy'

58032

Institutional Source

Beutler Lab

Gene Symbol

Jmy

Ensembl Gene

ENSMUSG00000021690

Gene Name

junction-mediating and regulatory protein

Synonyms

MMRRC Submission

038812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R0623 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

93566609-93636316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93589325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 644 (T644I)

Ref Sequence

ENSEMBL: ENSMUSP00000070339 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065537
AA Change: T644I

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: T644I

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

noncoding transcript
Transcript: ENSMUST00000223297

Meta Mutation Damage Score

0.1058

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 1 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	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
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
R4330:Jmy	UTSW	13	93,635,390 (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

Posted On

2013-07-11