Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02252:Jsrp1'

286416

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jsrp1

Ensembl Gene

ENSMUSG00000020216

Gene Name

junctional sarcoplasmic reticulum protein 1

Synonyms

JP-45, JP45, 2310032K21Rik, 2300003C06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02252

Quality Score

Status

Chromosome

Chromosomal Location

80644330-80649332 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80644707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 233 (V233A)

Ref Sequence

ENSEMBL: ENSMUSP00000137666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020435] [ENSMUST00000036016] [ENSMUST00000148665] [ENSMUST00000151928] [ENSMUST00000180438] [ENSMUST00000181039] [ENSMUST00000181945]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020435
AA Change: V193A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020435
Gene: ENSMUSG00000020216
AA Change: V193A

Domain	Start	End	E-Value	Type
low complexity region	52	77	N/A	INTRINSIC
Pfam:JSRP	79	138	1e-29	PFAM
low complexity region	145	158	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
low complexity region	205	230	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036016

SMART Domains

Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	38	52	N/A	INTRINSIC
Pfam:AMH_N	75	439	3e-133	PFAM
TGFB	456	554	8.57e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139461

Predicted Effect

probably benign
Transcript: ENSMUST00000148665

SMART Domains

Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	219	8.29e-35	SMART
low complexity region	300	318	N/A	INTRINSIC
low complexity region	320	420	N/A	INTRINSIC
low complexity region	423	452	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151928

SMART Domains

Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	194	1.26e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180438

SMART Domains

Protein: ENSMUSP00000137701
Gene: ENSMUSG00000020216

Domain	Start	End	E-Value	Type
low complexity region	23	48	N/A	INTRINSIC
Pfam:JSRP	49	78	3.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181039
AA Change: V233A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137666
Gene: ENSMUSG00000020216
AA Change: V233A

Domain	Start	End	E-Value	Type
low complexity region	92	117	N/A	INTRINSIC
Pfam:JSRP	118	179	1e-31	PFAM
low complexity region	185	198	N/A	INTRINSIC
low complexity region	219	232	N/A	INTRINSIC
low complexity region	245	270	N/A	INTRINSIC
low complexity region	313	324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181945

SMART Domains

Protein: ENSMUSP00000137960
Gene: ENSMUSG00000020216

Domain	Start	End	E-Value	Type
transmembrane domain	53	75	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit muscle weakness, abnormal voluntary movement and abnormal muscle physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,444,678 (GRCm39)		probably benign	Het
Actl7b	A	T	4: 56,741,205 (GRCm39)	I51N	probably damaging	Het
Adamts12	A	G	15: 11,311,101 (GRCm39)	I1119M	probably benign	Het
Apol10a	T	A	15: 77,372,670 (GRCm39)	V102D	probably benign	Het
Atrx	T	C	X: 104,889,429 (GRCm39)	E1628G	possibly damaging	Het
Btnl2	C	T	17: 34,584,364 (GRCm39)	S429F	possibly damaging	Het
C4bp	C	A	1: 130,564,524 (GRCm39)	D387Y	probably damaging	Het
Ceacam23	G	T	7: 17,644,457 (GRCm39)	V525F	possibly damaging	Het
Crybg3	G	T	16: 59,372,887 (GRCm39)		probably benign	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Efcab3	C	A	11: 104,644,753 (GRCm39)	R1114S	possibly damaging	Het
Elp1	G	T	4: 56,759,813 (GRCm39)	Q1151K	probably benign	Het
Fign	A	G	2: 63,810,983 (GRCm39)	S96P	probably benign	Het
Ggt5	A	G	10: 75,438,566 (GRCm39)	I96V	possibly damaging	Het
Gm3238	A	G	10: 77,606,691 (GRCm39)		probably benign	Het
Gm4792	G	T	10: 94,131,102 (GRCm39)	P69Q	unknown	Het
Ighv1-58	A	T	12: 115,275,897 (GRCm39)	N80K	possibly damaging	Het
Irgm1	C	T	11: 48,756,981 (GRCm39)	G277S	possibly damaging	Het
Kcp	T	A	6: 29,504,548 (GRCm39)	R85W	probably damaging	Het
Kif14	T	C	1: 136,406,130 (GRCm39)	Y565H	probably damaging	Het
Klk1b4	G	A	7: 43,860,094 (GRCm39)	W69*	probably null	Het
Knl1	A	T	2: 118,903,021 (GRCm39)	Q1574L	probably damaging	Het
Lao1	A	G	4: 118,824,613 (GRCm39)	N232D	probably benign	Het
Lipn	A	G	19: 34,049,157 (GRCm39)	I108V	probably benign	Het
Lrrc49	T	A	9: 60,595,142 (GRCm39)	M1L	probably benign	Het
Matn2	G	T	15: 34,316,736 (GRCm39)	R26L	probably damaging	Het
Mmp16	G	A	4: 18,110,523 (GRCm39)	D440N	probably damaging	Het
Mn1	G	A	5: 111,569,107 (GRCm39)	A1026T	probably damaging	Het
Mrgpra1	A	T	7: 46,984,912 (GRCm39)	F256I	probably benign	Het
Msantd3	A	C	4: 48,560,869 (GRCm39)	E148D	probably benign	Het
Mylk3	G	T	8: 86,082,105 (GRCm39)	L361I	probably benign	Het
Nlrp12	A	G	7: 3,293,980 (GRCm39)	S117P	probably benign	Het
Nsmaf	T	C	4: 6,398,378 (GRCm39)	E870G	probably benign	Het
Oplah	T	C	15: 76,188,964 (GRCm39)	T320A	probably damaging	Het
Or5p50	C	A	7: 107,422,353 (GRCm39)	A108S	probably benign	Het
Or7g34	T	A	9: 19,478,267 (GRCm39)	I138F	probably damaging	Het
Pard3	T	G	8: 128,125,237 (GRCm39)	S729A	probably benign	Het
Pdzd9	T	C	7: 120,262,238 (GRCm39)	I75V	probably benign	Het
Pgf	A	G	12: 85,216,199 (GRCm39)		probably benign	Het
Phf1	T	A	17: 27,154,109 (GRCm39)	V140D	possibly damaging	Het
Pkd1l3	T	C	8: 110,357,708 (GRCm39)	S775P	possibly damaging	Het
Rhobtb1	A	T	10: 69,085,515 (GRCm39)	T85S	probably damaging	Het
Sez6	T	A	11: 77,865,339 (GRCm39)	Y659N	probably damaging	Het
Sfmbt1	T	C	14: 30,539,690 (GRCm39)	L826P	probably damaging	Het
Sftpd	T	A	14: 40,894,471 (GRCm39)	D316V	probably damaging	Het
Shc2	T	C	10: 79,462,204 (GRCm39)	D313G	probably benign	Het
Snrk	T	C	9: 121,986,326 (GRCm39)	Y232H	probably damaging	Het
Sntg1	G	T	1: 8,484,452 (GRCm39)	P456Q	probably benign	Het
Sorbs1	A	T	19: 40,302,841 (GRCm39)	N783K	probably damaging	Het
Stag3	A	T	5: 138,300,810 (GRCm39)	I923F	probably damaging	Het
Tep1	T	A	14: 51,067,712 (GRCm39)	H2168L	possibly damaging	Het
Tmem132c	A	T	5: 127,539,991 (GRCm39)	N339I	possibly damaging	Het
Trim34b	A	G	7: 103,979,139 (GRCm39)	T129A	probably damaging	Het
Ttc21a	T	C	9: 119,785,994 (GRCm39)	L664P	probably damaging	Het
Ubl5	C	T	9: 20,556,923 (GRCm39)	R56*	probably null	Het
Ubox5	G	A	2: 130,441,707 (GRCm39)	R327W	probably damaging	Het
Ubr5	G	T	15: 38,025,138 (GRCm39)	A546E	probably damaging	Het
Umodl1	T	C	17: 31,213,789 (GRCm39)		probably null	Het
Unc45a	T	C	7: 79,982,717 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,101 (GRCm39)	T73I	probably benign	Het
Vmn2r67	T	G	7: 84,805,008 (GRCm39)	N35H	probably benign	Het
Vmn2r74	A	G	7: 85,606,531 (GRCm39)	Y272H	probably benign	Het
Wdr43	T	A	17: 71,933,845 (GRCm39)	D147E	probably damaging	Het
Zfp352	A	T	4: 90,112,367 (GRCm39)	D169V	probably benign	Het
Zim1	A	T	7: 6,691,627 (GRCm39)	N15K	unknown	Het

Other mutations in Jsrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0080:Jsrp1	UTSW	10	80,646,349 (GRCm39)	missense	probably benign
R2511:Jsrp1	UTSW	10	80,648,140 (GRCm39)	missense	probably benign	0.27
R3904:Jsrp1	UTSW	10	80,648,246 (GRCm39)	start codon destroyed	probably benign	0.14
R4282:Jsrp1	UTSW	10	80,646,190 (GRCm39)	missense	probably benign	0.00
R5366:Jsrp1	UTSW	10	80,646,030 (GRCm39)	nonsense	probably null
R7084:Jsrp1	UTSW	10	80,644,410 (GRCm39)	missense	possibly damaging	0.85
R7204:Jsrp1	UTSW	10	80,646,319 (GRCm39)	missense	probably benign
R7311:Jsrp1	UTSW	10	80,647,906 (GRCm39)	missense	probably benign
R7949:Jsrp1	UTSW	10	80,647,906 (GRCm39)	missense	probably benign
R8756:Jsrp1	UTSW	10	80,647,940 (GRCm39)	critical splice acceptor site	probably null
R9482:Jsrp1	UTSW	10	80,644,734 (GRCm39)	missense	possibly damaging	0.73

Posted On

2015-04-16