Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02212:Jph1'

285512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jph1

Ensembl Gene

ENSMUSG00000042686

Gene Name

junctophilin 1

Synonyms

JP-1, ENSMUSG00000054314, mitsugumin72

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

17034784-17168113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17161981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 227 (E227G)

Ref Sequence

ENSEMBL: ENSMUSP00000039072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038382]

AlphaFold

Q9ET80

Predicted Effect

probably damaging
Transcript: ENSMUST00000038382
AA Change: E227G

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

SMART Domains

Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: E227G

Domain	Start	End	E-Value	Type
MORN	12	33	7.31e-1	SMART
MORN	36	56	7.6e1	SMART
MORN	58	79	2.49e-1	SMART
Pfam:MORN	82	99	8.9e-3	PFAM
MORN	104	125	3.72e-4	SMART
MORN	127	148	7.86e-3	SMART
low complexity region	204	220	N/A	INTRINSIC
low complexity region	224	241	N/A	INTRINSIC
MORN	279	300	2.07e-2	SMART
MORN	302	323	2.86e-5	SMART
low complexity region	382	400	N/A	INTRINSIC
low complexity region	465	491	N/A	INTRINSIC
transmembrane domain	637	659	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186604

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation fail to suckle and die shortly after birth. Mutants exhibit deficiencies of triad junctions and contraction in skeletal muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,079,233 (GRCm39)	D1079V	probably damaging	Het
Adam18	T	C	8: 25,127,195 (GRCm39)	H467R	probably benign	Het
Ambra1	T	G	2: 91,747,706 (GRCm39)	D1056E	probably damaging	Het
Aoah	A	C	13: 21,187,071 (GRCm39)	N456T	probably benign	Het
Batf2	T	A	19: 6,221,991 (GRCm39)	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,648,558 (GRCm39)	V397I	probably benign	Het
Bbs9	T	A	9: 22,723,808 (GRCm39)	D824E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Brip1	A	T	11: 86,029,841 (GRCm39)	V601E	possibly damaging	Het
Bub1	A	G	2: 127,647,271 (GRCm39)	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345 (GRCm38)	D606E	possibly damaging	Het
Cenps	T	G	4: 149,213,303 (GRCm39)	D54A	probably damaging	Het
Cep170	T	A	1: 176,563,502 (GRCm39)	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,748 (GRCm39)	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,052,091 (GRCm39)	S667T	probably benign	Het
Defa38	C	T	8: 21,585,276 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,189,413 (GRCm39)	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,011,467 (GRCm39)	D107G	probably benign	Het
Drd3	A	T	16: 43,582,675 (GRCm39)	N56I	probably benign	Het
Elavl4	T	A	4: 110,063,609 (GRCm39)	I331F	probably damaging	Het
Fam167a	T	G	14: 63,700,078 (GRCm39)	S213A	probably damaging	Het
Fasn	A	T	11: 120,698,729 (GRCm39)	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,957 (GRCm39)	K587E	probably damaging	Het
Fscn2	A	G	11: 120,252,881 (GRCm39)	D116G	probably damaging	Het
Galm	T	C	17: 80,457,546 (GRCm39)	V194A	probably benign	Het
Gpr180	T	A	14: 118,397,588 (GRCm39)	F361I	probably damaging	Het
Gpx2	A	T	12: 76,839,682 (GRCm39)	C105*	probably null	Het
Gsdmc2	A	T	15: 63,699,911 (GRCm39)		probably benign	Het
Hes2	T	G	4: 152,244,982 (GRCm39)	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,206,417 (GRCm39)		probably benign	Het
Inhbb	A	T	1: 119,345,713 (GRCm39)	V192D	probably benign	Het
Itgal	A	T	7: 126,900,152 (GRCm39)	M137L	probably benign	Het
Jak2	A	G	19: 29,265,382 (GRCm39)	N470D	probably benign	Het
Kcnj6	A	T	16: 94,633,346 (GRCm39)	I237N	probably damaging	Het
Kctd8	G	T	5: 69,498,031 (GRCm39)	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,297,540 (GRCm39)	N37I	probably damaging	Het
Lrp2	T	A	2: 69,281,608 (GRCm39)	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,664,245 (GRCm39)		probably benign	Het
Man2a2	A	C	7: 80,012,056 (GRCm39)	D700E	probably benign	Het
Mast1	A	T	8: 85,648,026 (GRCm39)	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Mptx2	T	A	1: 173,102,248 (GRCm39)	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,351,124 (GRCm39)		probably null	Het
Mup21	T	G	4: 62,066,829 (GRCm39)	E137A	probably damaging	Het
Mutyh	T	A	4: 116,672,803 (GRCm39)	V52D	probably damaging	Het
Nalcn	T	A	14: 123,752,742 (GRCm39)	S340C	probably damaging	Het
Neb	A	G	2: 52,198,323 (GRCm39)	Y474H	probably damaging	Het
Nol8	A	G	13: 49,815,626 (GRCm39)	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,480,711 (GRCm39)	D145G	possibly damaging	Het
Nup93	G	A	8: 95,038,290 (GRCm39)		probably null	Het
Or1j17	A	G	2: 36,578,194 (GRCm39)	Y60C	probably damaging	Het
Or2n1b	C	A	17: 38,459,746 (GRCm39)	T89K	probably benign	Het
Or2y14	A	T	11: 49,404,737 (GRCm39)	I91F	probably damaging	Het
Or52b2	C	T	7: 104,986,350 (GRCm39)	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,489,465 (GRCm39)	V40E	possibly damaging	Het
Peg3	C	T	7: 6,714,415 (GRCm39)	R269H	probably benign	Het
Piwil1	T	A	5: 128,827,334 (GRCm39)	F648I	possibly damaging	Het
Psd4	A	T	2: 24,295,326 (GRCm39)	K827*	probably null	Het
Retsat	T	A	6: 72,578,693 (GRCm39)	L135*	probably null	Het
Rtp3	A	G	9: 110,816,389 (GRCm39)		probably benign	Het
Samd14	A	G	11: 94,914,176 (GRCm39)	Y305C	probably damaging	Het
Satb1	T	A	17: 52,082,319 (GRCm39)	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,508,035 (GRCm39)	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,317,218 (GRCm39)	I413N	possibly damaging	Het
Slu7	A	T	11: 43,331,469 (GRCm39)	Q201L	probably benign	Het
Spg11	T	C	2: 121,938,638 (GRCm39)	T439A	probably benign	Het
Sstr5	A	T	17: 25,710,647 (GRCm39)	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,116,150 (GRCm39)	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Ttll8	C	A	15: 88,801,450 (GRCm39)	V413L	probably benign	Het
Wiz	T	C	17: 32,587,109 (GRCm39)	D67G	probably damaging	Het

Other mutations in Jph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00732:Jph1	APN	1	17,161,964 (GRCm39)	missense	probably damaging	1.00
IGL01382:Jph1	APN	1	17,086,380 (GRCm39)	missense	probably damaging	1.00
IGL01936:Jph1	APN	1	17,167,608 (GRCm39)	missense	probably damaging	0.98
IGL02012:Jph1	APN	1	17,167,638 (GRCm39)	missense	probably benign	0.00
IGL02142:Jph1	APN	1	17,161,884 (GRCm39)	missense	probably damaging	0.99
IGL02317:Jph1	APN	1	17,074,147 (GRCm39)	missense	probably benign
IGL02450:Jph1	APN	1	17,074,201 (GRCm39)	missense	possibly damaging	0.77
IGL02707:Jph1	APN	1	17,074,675 (GRCm39)	missense	probably benign
R0668:Jph1	UTSW	1	17,161,895 (GRCm39)	missense	probably damaging	1.00
R0893:Jph1	UTSW	1	17,074,507 (GRCm39)	nonsense	probably null
R1308:Jph1	UTSW	1	17,161,918 (GRCm39)	missense	probably damaging	1.00
R1318:Jph1	UTSW	1	17,067,714 (GRCm39)	missense	probably damaging	1.00
R1495:Jph1	UTSW	1	17,161,876 (GRCm39)	missense	probably benign
R1712:Jph1	UTSW	1	17,167,456 (GRCm39)	missense	possibly damaging	0.57
R1916:Jph1	UTSW	1	17,162,279 (GRCm39)	missense	probably damaging	1.00
R4492:Jph1	UTSW	1	17,067,770 (GRCm39)	missense	probably damaging	1.00
R4559:Jph1	UTSW	1	17,074,735 (GRCm39)	missense	probably benign
R4565:Jph1	UTSW	1	17,074,426 (GRCm39)	missense	possibly damaging	0.91
R4694:Jph1	UTSW	1	17,067,729 (GRCm39)	missense	probably damaging	0.98
R4700:Jph1	UTSW	1	17,161,928 (GRCm39)	missense	possibly damaging	0.82
R4906:Jph1	UTSW	1	17,161,835 (GRCm39)	missense	probably damaging	1.00
R5029:Jph1	UTSW	1	17,161,615 (GRCm39)	missense	possibly damaging	0.85
R5256:Jph1	UTSW	1	17,161,622 (GRCm39)	missense	probably benign	0.38
R5316:Jph1	UTSW	1	17,161,750 (GRCm39)	missense	probably damaging	1.00
R5691:Jph1	UTSW	1	17,074,587 (GRCm39)	missense	probably benign	0.21
R6209:Jph1	UTSW	1	17,167,810 (GRCm39)	missense	probably damaging	0.98
R6380:Jph1	UTSW	1	17,162,071 (GRCm39)	missense	probably damaging	1.00
R6645:Jph1	UTSW	1	17,161,985 (GRCm39)	missense	probably damaging	1.00
R6829:Jph1	UTSW	1	17,074,647 (GRCm39)	missense	probably damaging	1.00
R7007:Jph1	UTSW	1	17,074,410 (GRCm39)	missense	possibly damaging	0.85
R7276:Jph1	UTSW	1	17,162,266 (GRCm39)	missense	probably damaging	1.00
R7689:Jph1	UTSW	1	17,074,192 (GRCm39)	nonsense	probably null
R7719:Jph1	UTSW	1	17,162,215 (GRCm39)	missense	probably damaging	1.00
R7792:Jph1	UTSW	1	17,074,602 (GRCm39)	missense	probably benign	0.02
R8132:Jph1	UTSW	1	17,086,379 (GRCm39)	missense	probably damaging	1.00
R8871:Jph1	UTSW	1	17,067,719 (GRCm39)	missense	possibly damaging	0.83
R9217:Jph1	UTSW	1	17,167,632 (GRCm39)	missense	probably benign	0.24
R9272:Jph1	UTSW	1	17,161,838 (GRCm39)	missense	probably damaging	1.00
R9631:Jph1	UTSW	1	17,161,607 (GRCm39)	missense	probably damaging	0.99
Z1176:Jph1	UTSW	1	17,167,576 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-04-16