Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Jph1'

503298

Institutional Source

Beutler Lab

Gene Symbol

Jph1

Ensembl Gene

ENSMUSG00000042686

Gene Name

junctophilin 1

Synonyms

JP-1, ENSMUSG00000054314, mitsugumin72

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.776) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17034784-17168113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17167810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 7 (D7Y)

Ref Sequence

ENSEMBL: ENSMUSP00000039072 (fasta)

Gene Model

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

AlphaFold

Q9ET80

Predicted Effect

probably damaging
Transcript: ENSMUST00000038382
AA Change: D7Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: D7Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,519,230 (GRCm39)	V366D	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677 (GRCm39)	K528R	probably benign	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matk	T	G	10: 81,095,422 (GRCm39)	W81G	probably damaging	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Mtr	A	G	13: 12,205,278 (GRCm39)	S1061P	probably benign	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
P4ha3	G	T	7: 99,966,292 (GRCm39)	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,453,610 (GRCm39)	K1013*	probably null	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068 (GRCm39)	T671I	probably damaging	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	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
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
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'- TTGAAACCATGTGACCACTCCC -3'
(R):5'- ACGTCTCAGAGTACACTGGC -3'

Sequencing Primer
(F):5'- GGTACATCCACTTGCCCTTCG -3'
(R):5'- AGCAGCTGAAAGTCCGCTCTG -3'

Posted On

2018-02-27