Mutagenetix > Incidental Mutation

Incidental Mutation 'R5953:Jmy'

471020

Institutional Source

Beutler Lab

Gene Symbol

Jmy

Ensembl Gene

ENSMUSG00000021690

Gene Name

junction-mediating and regulatory protein

Synonyms

MMRRC Submission

043245-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5953 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

93430101-93499808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93499116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 64 (T64M)

Ref Sequence

ENSEMBL: ENSMUSP00000070339 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065537
AA Change: T64M

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: T64M

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: T64M

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,361,018	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,890,404	L212P	probably damaging	Het
Adamts14	T	C	10: 61,207,446	T751A	probably damaging	Het
Adgrf2	T	C	17: 42,710,338	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285	E220G	probably benign	Het
Cd209d	A	T	8: 3,877,979		probably null	Het
Cenpp	T	C	13: 49,652,685	D2G	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Clec4a3	G	T	6: 122,969,492	V232L	probably benign	Het
Cntln	C	T	4: 85,049,919	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,256,220	T470S	probably benign	Het
Cym	T	A	3: 107,213,467	D274V	probably damaging	Het
Elac2	G	A	11: 64,999,223	C627Y	probably benign	Het
Emc7	T	A	2: 112,459,558	I111N	probably damaging	Het
Eya4	T	A	10: 23,151,973	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,420,360	S39F	probably damaging	Het
Fam234b	G	T	6: 135,225,707	R353L	possibly damaging	Het
Focad	A	G	4: 88,229,335	I404V	probably benign	Het
Il1rl1	T	A	1: 40,442,673	D180E	probably benign	Het
Il2rb	A	T	15: 78,484,982	C256*	probably null	Het
Intu	A	C	3: 40,679,550	L404F	probably damaging	Het
Mpl	C	A	4: 118,454,510	S302I	possibly damaging	Het
Mpl	T	A	4: 118,454,511	S302C	probably damaging	Het
Muc2	G	T	7: 141,701,382	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,546,791	H99Y	probably benign	Het
Olfr1474	A	T	19: 13,471,368	I133F	possibly damaging	Het
Olfr812	C	G	10: 129,842,614	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,890,313	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,281,951	I1936N		Het
Plekhm3	C	T	1: 64,937,895	E139K	probably damaging	Het
Pomk	C	A	8: 25,983,048	L292F	probably damaging	Het
Ptpru	A	G	4: 131,776,837	I1103T	probably damaging	Het
Pygl	T	C	12: 70,219,627	D38G	probably damaging	Het
Rapsn	T	C	2: 91,041,963	V214A	probably benign	Het
S100a9	T	A	3: 90,692,927	K54M	probably damaging	Het
Sdk2	A	G	11: 113,793,744	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,557,498	N331S	probably damaging	Het
Snx9	T	A	17: 5,908,402	C252S	probably damaging	Het
Snx9	G	T	17: 5,908,403	C252F	probably damaging	Het
Trem1	A	T	17: 48,237,192	M82L	probably benign	Het

Other mutations in Jmy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Jmy	APN	13	93441402	missense	probably benign	0.00
IGL00949:Jmy	APN	13	93454002	missense	probably damaging	1.00
IGL01111:Jmy	APN	13	93441021	missense	probably damaging	1.00
IGL01734:Jmy	APN	13	93459651	missense	probably damaging	1.00
IGL01926:Jmy	APN	13	93459786	missense	probably damaging	1.00
IGL01985:Jmy	APN	13	93459636	missense	possibly damaging	0.58
IGL02183:Jmy	APN	13	93499242	missense	possibly damaging	0.78
IGL02517:Jmy	APN	13	93452808	missense	probably benign	0.01
IGL02524:Jmy	APN	13	93472760	missense	probably damaging	1.00
IGL02697:Jmy	APN	13	93459701	nonsense	probably null
IGL03024:Jmy	APN	13	93499199	missense	probably damaging	1.00
R0242:Jmy	UTSW	13	93441618	missense	probably benign	0.07
R0242:Jmy	UTSW	13	93441618	missense	probably benign	0.07
R0623:Jmy	UTSW	13	93452817	missense	probably benign	0.37
R0623:Jmy	UTSW	13	93452817	missense	probably benign	0.37
R0722:Jmy	UTSW	13	93452817	missense	probably benign	0.37
R1533:Jmy	UTSW	13	93441311	missense	probably benign
R1667:Jmy	UTSW	13	93498370	missense	probably damaging	1.00
R1737:Jmy	UTSW	13	93498795	missense	probably damaging	0.99
R1815:Jmy	UTSW	13	93454077	missense	probably damaging	1.00
R2057:Jmy	UTSW	13	93459703	missense	probably damaging	1.00
R3522:Jmy	UTSW	13	93454050	missense	probably damaging	1.00
R3765:Jmy	UTSW	13	93464711	missense	possibly damaging	0.78
R4231:Jmy	UTSW	13	93498925	missense	probably benign
R4279:Jmy	UTSW	13	93498882	missense	probably damaging	1.00
R4279:Jmy	UTSW	13	93499273	missense	probably damaging	1.00
R4330:Jmy	UTSW	13	93498882	missense	probably damaging	1.00
R4330:Jmy	UTSW	13	93499273	missense	probably damaging	1.00
R4845:Jmy	UTSW	13	93439738	missense	possibly damaging	0.80
R5047:Jmy	UTSW	13	93441572	missense	possibly damaging	0.65
R5403:Jmy	UTSW	13	93441396	missense	probably benign	0.08
R5941:Jmy	UTSW	13	93498825	missense	probably benign
R6022:Jmy	UTSW	13	93453578	splice site	probably null
R6150:Jmy	UTSW	13	93441133	missense	probably benign	0.10
R6520:Jmy	UTSW	13	93454039	missense	probably benign	0.10
R7073:Jmy	UTSW	13	93441333	missense	probably benign	0.01
R7074:Jmy	UTSW	13	93453931	missense	probably benign	0.15
R7325:Jmy	UTSW	13	93472743	missense	probably damaging	0.99
R7575:Jmy	UTSW	13	93464595	nonsense	probably null
R7641:Jmy	UTSW	13	93442599	missense	probably damaging	1.00
R7674:Jmy	UTSW	13	93442599	missense	probably damaging	1.00
R7862:Jmy	UTSW	13	93499195	missense	possibly damaging	0.75
R8278:Jmy	UTSW	13	93464716	missense	probably damaging	1.00
R8416:Jmy	UTSW	13	93498441	missense	probably damaging	1.00
R8987:Jmy	UTSW	13	93452889	missense	probably damaging	1.00
R9063:Jmy	UTSW	13	93499072	missense	probably benign	0.22
R9196:Jmy	UTSW	13	93464701	missense	probably damaging	1.00
R9255:Jmy	UTSW	13	93453386	critical splice donor site	probably null
R9402:Jmy	UTSW	13	93499170	missense	probably damaging	0.99
Z1088:Jmy	UTSW	13	93441081	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2017-03-31