Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Jph1'

168750

Institutional Source

Beutler Lab

Gene Symbol

Jph1

Ensembl Gene

ENSMUSG00000042686

Gene Name

junctophilin 1

Synonyms

JP-1, ENSMUSG00000054314, mitsugumin72

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17034784-17168113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 17161876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 262 (V262G)

Ref Sequence

ENSEMBL: ENSMUSP00000039072 (fasta)

Gene Model

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

AlphaFold

Q9ET80

Predicted Effect

probably benign
Transcript: ENSMUST00000038382
AA Change: V262G

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

SMART Domains

Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: V262G

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

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,614,356 (GRCm39)	N488S	probably benign	Het
Acot10	G	A	15: 20,665,593 (GRCm39)	R383C	probably damaging	Het
Acsm2	A	G	7: 119,177,349 (GRCm39)	D263G	probably damaging	Het
Adcy2	G	T	13: 68,944,654 (GRCm39)	Q243K	probably benign	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Agt	A	G	8: 125,286,194 (GRCm39)	F296S	probably damaging	Het
Akap14	T	C	X: 36,427,618 (GRCm39)	D39G	possibly damaging	Het
Akt3	T	C	1: 176,930,608 (GRCm39)	M117V	probably benign	Het
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Arvcf	T	A	16: 18,207,251 (GRCm39)	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,599,332 (GRCm39)	K724*	probably null	Het
Ccdc91	A	G	6: 147,435,670 (GRCm39)	T85A	possibly damaging	Het
Ccdc9b	T	G	2: 118,591,013 (GRCm39)	K173N	probably damaging	Het
Cdh3	C	T	8: 107,265,629 (GRCm39)	T224I	probably damaging	Het
Clstn3	T	C	6: 124,426,876 (GRCm39)	I482V	probably benign	Het
Cnot9	A	G	1: 74,562,759 (GRCm39)	E176G	probably damaging	Het
Cntnap4	T	G	8: 113,608,395 (GRCm39)	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,869,605 (GRCm39)	M1K	probably null	Het
Cyp2c23	A	G	19: 43,993,947 (GRCm39)	I473T	probably benign	Het
Dbil5	T	A	11: 76,109,276 (GRCm39)	M60K	probably benign	Het
Defa38	T	A	8: 21,585,217 (GRCm39)	Q75L	probably benign	Het
Dgkg	A	T	16: 22,319,129 (GRCm39)	L644Q	probably damaging	Het
Disp3	T	C	4: 148,334,282 (GRCm39)	I1004V	probably benign	Het
Egf	T	A	3: 129,506,655 (GRCm39)	I599F	probably damaging	Het
Epc2	A	G	2: 49,426,675 (GRCm39)	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Extl3	A	T	14: 65,313,316 (GRCm39)	V622E	probably benign	Het
Fam227a	C	T	15: 79,510,446 (GRCm39)	V403I	probably benign	Het
Fat2	T	A	11: 55,153,499 (GRCm39)	D3571V	probably benign	Het
Fcho2	A	G	13: 98,886,358 (GRCm39)		probably null	Het
Fras1	A	G	5: 96,676,445 (GRCm39)	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,366,832 (GRCm39)	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,045,771 (GRCm39)	N113S	probably damaging	Het
Glg1	T	C	8: 111,924,307 (GRCm39)	Y227C	probably damaging	Het
Gm5141	A	T	13: 62,922,084 (GRCm39)	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,504,533 (GRCm39)	T104S	probably benign	Het
Kank1	C	G	19: 25,387,713 (GRCm39)	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,704,325 (GRCm39)	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,482,308 (GRCm39)		probably benign	Het
Lyzl1	G	T	18: 4,181,192 (GRCm39)	W77L	probably null	Het
Nipbl	T	G	15: 8,380,764 (GRCm39)	N676T	probably benign	Het
Obscn	C	T	11: 58,970,986 (GRCm39)	S2300N	probably damaging	Het
Or9a2	T	G	6: 41,748,837 (GRCm39)	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,891,896 (GRCm39)	M350L	probably benign	Het
Pecam1	T	C	11: 106,579,682 (GRCm39)	D460G	probably damaging	Het
Pik3c2a	T	A	7: 115,987,300 (GRCm39)	K540N	probably benign	Het
Prdm12	T	A	2: 31,530,205 (GRCm39)	I32N	probably damaging	Het
Prkd1	T	C	12: 50,413,135 (GRCm39)	S679G	probably damaging	Het
Psen2	C	T	1: 180,056,419 (GRCm39)	A393T	probably damaging	Het
Ptprh	T	A	7: 4,583,888 (GRCm39)	T235S	probably benign	Het
Ranbp3	C	T	17: 57,012,527 (GRCm39)	P182L	probably benign	Het
Serpinb7	A	T	1: 107,379,390 (GRCm39)	K266*	probably null	Het
Sesn3	T	C	9: 14,219,817 (GRCm39)	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,184,535 (GRCm39)	M818T	probably damaging	Het
Slc25a53	C	A	X: 135,916,084 (GRCm39)	C4F	unknown	Het
Snx1	T	A	9: 66,003,879 (GRCm39)	L255F	probably benign	Het
Sptbn2	T	G	19: 4,769,004 (GRCm39)	S46A	possibly damaging	Het
Taf4	A	G	2: 179,574,820 (GRCm39)	F595S	probably damaging	Het
Tec	A	T	5: 72,944,098 (GRCm39)	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,121,136 (GRCm39)	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,675,675 (GRCm39)	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994 (GRCm39)	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385 (GRCm39)	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 56,980,058 (GRCm39)	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,476,728 (GRCm39)	Y473*	probably null	Het
Zyg11b	G	A	4: 108,123,410 (GRCm39)	P186S	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
IGL02212:Jph1	APN	1	17,161,981 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCTGCTTCCTTATCCCACGGAC -3'
(R):5'- AACTTCCATGCGGACACGGAAC -3'

Sequencing Primer
(F):5'- CTTCTTTGGAGCCATCAGGAAAC -3'
(R):5'- CGGACACGGAACTGGGC -3'

Posted On

2014-04-13