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: 0.157) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

93566609-93636316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93635750 bp (GRCm39)

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
Ace2	T	A	X: 162,960,465 (GRCm39)		probably benign	Het
Acsm4	A	T	7: 119,293,075 (GRCm39)		probably null	Het
Apcdd1	T	C	18: 63,084,925 (GRCm39)	M374T	probably damaging	Het
Arid4b	A	G	13: 14,344,575 (GRCm39)	E551G	possibly damaging	Het
Bag4	A	T	8: 26,258,058 (GRCm39)	L423Q	probably damaging	Het
Celf1	C	T	2: 90,831,831 (GRCm39)	P96S	probably damaging	Het
Cracdl	G	A	1: 37,664,459 (GRCm39)	P480S	possibly damaging	Het
Cry2	G	A	2: 92,243,384 (GRCm39)	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,825,477 (GRCm39)	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,886 (GRCm39)	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,118,384 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,847,228 (GRCm39)	C1695S	possibly damaging	Het
Elmo3	T	C	8: 106,034,955 (GRCm39)	L415P	probably benign	Het
Entpd5	A	G	12: 84,427,154 (GRCm39)		probably benign	Het
Gpatch11	T	C	17: 79,149,660 (GRCm39)		probably null	Het
Gprin3	C	A	6: 59,330,147 (GRCm39)	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460 (GRCm39)	T358P	probably damaging	Het
Hcn2	T	C	10: 79,560,647 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,221 (GRCm39)	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,799,635 (GRCm39)	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,302,034 (GRCm39)	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,917,403 (GRCm39)		probably benign	Het
Ighg2b	A	G	12: 113,271,449 (GRCm39)	S35P	unknown	Het
Kdm5b	T	C	1: 134,552,669 (GRCm39)	I1215T	probably benign	Het
Krt84	T	C	15: 101,440,791 (GRCm39)	I134V	unknown	Het
Magi3	T	A	3: 103,992,663 (GRCm39)	M270L	probably benign	Het
Maneal	G	A	4: 124,754,209 (GRCm39)	T198I	probably benign	Het
Map7d3	A	G	X: 55,867,591 (GRCm39)		probably benign	Het
Myh7	T	A	14: 55,212,188 (GRCm39)	T1519S	probably benign	Het
Myo5a	T	C	9: 75,074,518 (GRCm39)		probably benign	Het
Naip5	T	C	13: 100,358,150 (GRCm39)	S1029G	probably benign	Het
Or14j1	G	T	17: 38,146,304 (GRCm39)	C138F	probably damaging	Het
Or4c11c	A	T	2: 88,662,372 (GRCm39)	I304F	probably benign	Het
Or4g16	T	A	2: 111,136,763 (GRCm39)	V71E	probably damaging	Het
Or5d14	T	C	2: 87,880,333 (GRCm39)	T212A	possibly damaging	Het
Or5k15	T	A	16: 58,710,184 (GRCm39)	Q133L	probably benign	Het
Pald1	A	T	10: 61,182,920 (GRCm39)		probably benign	Het
Pan2	T	A	10: 128,144,944 (GRCm39)	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 94,123,720 (GRCm39)	I817V	probably benign	Het
Piezo2	A	G	18: 63,153,705 (GRCm39)	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,442,167 (GRCm39)		probably null	Het
Prdm6	T	C	18: 53,597,749 (GRCm39)		probably benign	Het
Prr5l	A	T	2: 101,602,465 (GRCm39)		probably benign	Het
Rab3gap2	T	A	1: 185,003,665 (GRCm39)	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,160,543 (GRCm39)	H669R	probably damaging	Het
Rnf150	A	T	8: 83,730,234 (GRCm39)	I255F	probably damaging	Het
Rnf17	T	A	14: 56,745,325 (GRCm39)	D1360E	probably null	Het
Sag	T	C	1: 87,756,197 (GRCm39)		probably null	Het
Scn2a	C	T	2: 65,501,947 (GRCm39)	T90I	probably benign	Het
Scn9a	T	A	2: 66,314,955 (GRCm39)		probably benign	Het
Serpinb13	T	C	1: 106,926,640 (GRCm39)	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,544,134 (GRCm39)	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,867,669 (GRCm39)		probably benign	Het
Slitrk3	A	T	3: 72,957,312 (GRCm39)	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,836,671 (GRCm39)	M279T	probably benign	Het
Tmem161b	T	C	13: 84,420,373 (GRCm39)	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,426,874 (GRCm39)		probably benign	Het
Ubxn7	T	C	16: 32,188,201 (GRCm39)	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,614,963 (GRCm39)	L209P	probably damaging	Het
Wdr73	A	T	7: 80,543,508 (GRCm39)	W136R	probably damaging	Het
Wif1	C	T	10: 120,911,181 (GRCm39)	R107C	probably damaging	Het
Ythdf2	G	T	4: 131,932,885 (GRCm39)	L92M	probably benign	Het
Zfp53	T	A	17: 21,720,512 (GRCm39)	I34N	possibly damaging	Het
Zpld2	A	G	4: 133,929,291 (GRCm39)	L338S	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
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
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

Posted On

2015-04-16