Mutagenetix > Incidental Mutations

Incidental Mutation 'R7641:Jmy'

590260

Institutional Source

Beutler Lab

Gene Symbol

Jmy

Ensembl Gene

ENSMUSG00000021690

Gene Name

junction-mediating and regulatory protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7641 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93430101-93499808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93442599 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 675 (R675Q)

Ref Sequence

ENSEMBL: ENSMUSP00000070339 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000065537
AA Change: R675Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: R675Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,519,307	Q641L	probably benign	Het
Aknad1	A	T	3: 108,771,975	H474L	probably benign	Het
Alkal1	A	T	1: 6,389,488	Y96F	probably damaging	Het
Cars	A	G	7: 143,587,103		probably null	Het
Chtf18	A	T	17: 25,722,275		probably null	Het
Cog2	C	A	8: 124,537,882	N333K	probably damaging	Het
Col6a5	T	A	9: 105,881,426	R2194*	probably null	Het
Dnah14	A	T	1: 181,707,533	I2355L	probably benign	Het
Dock8	G	A	19: 25,174,333		probably null	Het
Dpy19l3	A	C	7: 35,695,309	D601E	probably damaging	Het
Elf1	G	A	14: 79,570,723	G205E	probably damaging	Het
Fsip2	A	T	2: 82,986,912	K4330*	probably null	Het
Gm6525	A	T	3: 84,174,843	T24S	probably benign	Het
Golga4	G	T	9: 118,557,575	R1255L	probably benign	Het
Gpn2	A	T	4: 133,588,659	Q243L	probably null	Het
Grb10	T	C	11: 11,933,492	K588E	possibly damaging	Het
Gys1	T	C	7: 45,455,071	S641P	probably damaging	Het
H2-M5	T	A	17: 36,987,431	M331L	probably benign	Het
Ighv6-6	T	A	12: 114,435,217	I10L	probably benign	Het
Lonp2	A	T	8: 86,665,758	Q484L	probably benign	Het
Map3k20	T	A	2: 72,398,361	L308H	probably damaging	Het
Mep1b	T	C	18: 21,094,977	F546L	possibly damaging	Het
Mier1	A	G	4: 103,139,440	E133G	possibly damaging	Het
Msh3	C	A	13: 92,212,503	V1074L	probably benign	Het
Muc6	A	T	7: 141,639,825	L1645Q	unknown	Het
Nat10	G	A	2: 103,743,090	A354V	probably damaging	Het
Olfr870	A	G	9: 20,171,253	L106P	possibly damaging	Het
Pdyn	A	T	2: 129,689,828	V14E	possibly damaging	Het
Prdm16	T	A	4: 154,345,444	H356L	probably damaging	Het
Rasa3	A	G	8: 13,584,961	C453R	probably benign	Het
Rasgrf2	C	T	13: 92,131,406	S30N	possibly damaging	Het
Rlf	A	G	4: 121,159,196	S315P	probably damaging	Het
Rusc2	C	T	4: 43,425,335	R1147W	possibly damaging	Het
Sacs	T	A	14: 61,202,871	Y789N	probably damaging	Het
Sap130	T	C	18: 31,653,623	L289P	probably damaging	Het
Sept3	A	G	15: 82,290,782	Y308C	probably damaging	Het
Slc2a12	A	G	10: 22,693,994	D528G	probably damaging	Het
Slc2a13	A	G	15: 91,272,156	*638Q	probably null	Het
Smchd1	T	A	17: 71,390,479	E1155D	probably benign	Het
Sorcs2	G	A	5: 36,397,952	R32C	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C		Het
Tonsl	C	T	15: 76,633,652	D650N	probably damaging	Het
Tti1	A	T	2: 158,009,029	F97I	possibly damaging	Het
Ttn	T	C	2: 76,742,210	Q26113R	possibly damaging	Het
Unc5d	A	T	8: 28,719,975	N444K	probably damaging	Het
Usp17la	A	T	7: 104,861,447	K420*	probably null	Het
Vmn2r114	T	C	17: 23,308,203	N452D	possibly damaging	Het
Vps16	T	C	2: 130,440,528	V427A	probably benign	Het
Wdr5b	T	A	16: 36,042,342	V277D	probably damaging	Het
Zan	T	A	5: 137,467,108	M462L	possibly damaging	Het
Zfp40	A	G	17: 23,178,283	V80A	possibly damaging	Het
Zfp930	A	T	8: 69,228,685	H344L	probably 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
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
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
R7674:Jmy	UTSW	13	93442599	missense	probably damaging	1.00
R7862:Jmy	UTSW	13	93499195	missense	possibly damaging	0.75
R7945:Jmy	UTSW	13	93499195	missense	possibly damaging	0.75
Z1088:Jmy	UTSW	13	93441081	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATACTCAGGAGGTGGTGCTC -3'
(R):5'- TGACCACCGTGAACTTATTGG -3'

Sequencing Primer
(F):5'- TCCAAGGGCAAAGAATATTACTGCTG -3'
(R):5'- GCATTGTCAAAGATTTTGTTCAGTG -3'

Posted On

2019-10-24