Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Jmy'

284312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jmy

Ensembl Gene

ENSMUSG00000021690

Gene Name

junction-mediating and regulatory protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

93430101-93499808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93499242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 22 (D22G)

Ref Sequence

ENSEMBL: ENSMUSP00000152402 (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: D22G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: D22G

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

possibly damaging
Transcript: ENSMUST00000220513
AA Change: D22G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	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
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
R5953:Jmy	UTSW	13	93499116	missense	possibly damaging	0.62
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

Posted On

2015-04-16