Mutagenetix > Incidental Mutation

Incidental Mutation 'R4279:Jmy'

322815

Institutional Source

Beutler Lab

Gene Symbol

Jmy

Ensembl Gene

ENSMUSG00000021690

Gene Name

junction-mediating and regulatory protein

Synonyms

MMRRC Submission

041079-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R4279 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

93430101-93499808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 93498882 bp (GRCm38)

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: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	A	15: 96,371,756	L1250Q	probably damaging	Het
Ccdc73	A	T	2: 104,985,010	N364Y	possibly damaging	Het
Ccl25	T	A	8: 4,349,829	L56Q	probably damaging	Het
Ctnnd2	C	A	15: 30,905,820	A871E	probably damaging	Het
Cyp2b23	C	T	7: 26,666,027	S461N	possibly damaging	Het
Dgat2	C	A	7: 99,164,705	G120V	probably damaging	Het
Dsp	A	T	13: 38,185,231	I768F	probably damaging	Het
Dzank1	T	C	2: 144,491,845	E356G	probably benign	Het
Fam120a	A	T	13: 48,889,258	V889D	probably benign	Het
Fxyd5	C	A	7: 31,035,386	D139Y	probably null	Het
Gcnt2	T	C	13: 40,888,190	V275A	probably benign	Het
Gimap4	A	G	6: 48,690,577	I89V	probably benign	Het
Gm6578	G	A	6: 12,100,188		noncoding transcript	Het
Jmjd8	A	G	17: 25,829,813		probably benign	Het
Kif13b	G	T	14: 64,779,356	A1324S	probably damaging	Het
Klhl31	T	C	9: 77,655,839	S629P	unknown	Het
Lpar1	A	G	4: 58,487,115	V52A	possibly damaging	Het
Lrp5	A	G	19: 3,591,778	S1395P	possibly damaging	Het
Mogs	T	C	6: 83,116,067	L132P	probably damaging	Het
Ncam1	C	A	9: 49,506,959		probably benign	Het
Ndufs8	A	T	19: 3,911,014	F88I	probably damaging	Het
Nos2	T	A	11: 78,929,776	L69Q	probably benign	Het
Olfr575	T	A	7: 102,955,085	Q179L	probably benign	Het
Pls3	A	T	X: 75,802,532	I192N	probably benign	Het
Psmd6	T	C	14: 14,112,297	N388S	possibly damaging	Het
Rrbp1	T	C	2: 143,963,108	T1046A	probably benign	Het
Scn11a	T	C	9: 119,754,362	E1729G	probably benign	Het
Slc6a3	A	G	13: 73,544,834	D191G	possibly damaging	Het
Slc9a1	T	C	4: 133,412,089	F206S	probably benign	Het
Tmc5	A	G	7: 118,674,663	*968W	probably null	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Unc13a	T	C	8: 71,666,667	K9R	probably damaging	Het
Vegfa	A	G	17: 46,031,466	V142A	probably benign	Het
Vmn1r119	T	A	7: 21,011,861	M199L	probably benign	Het
Vnn1	A	T	10: 23,898,512	D151V	possibly damaging	Het
Zfp365	A	T	10: 67,897,601	F254I	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	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

Predicted Primers

PCR Primer
(F):5'- TCCTGGAAGGAGAAAAGCCC -3'
(R):5'- TAACCTGTCACAACCGGACG -3'

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

Posted On

2015-06-20