Mutagenetix > Incidental Mutation

Incidental Mutation 'R7719:Jph1'

595082

Institutional Source

Beutler Lab

Gene Symbol

Jph1

Ensembl Gene

ENSMUSG00000042686

Gene Name

junctophilin 1

Synonyms

JP-1, ENSMUSG00000054314, mitsugumin72

MMRRC Submission

045776-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

R7719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17034784-17168113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17162215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 149 (Y149C)

Ref Sequence

ENSEMBL: ENSMUSP00000039072 (fasta)

Gene Model

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

AlphaFold

Q9ET80

Predicted Effect

probably damaging
Transcript: ENSMUST00000038382
AA Change: Y149C

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

SMART Domains

Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: Y149C

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: 99.7%
20x: 99.0%

Validation Efficiency

99% (67/68)

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
Acbd6	T	A	1: 155,562,758 (GRCm39)	L253H	probably damaging	Het
Adam11	T	C	11: 102,663,303 (GRCm39)	V238A	probably benign	Het
Amer3	A	T	1: 34,628,083 (GRCm39)	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,550,236 (GRCm39)	L150P	unknown	Het
Ano8	G	T	8: 71,935,784 (GRCm39)	T278K	possibly damaging	Het
Atg16l2	T	C	7: 100,939,074 (GRCm39)	K618E	probably damaging	Het
Casz1	C	T	4: 149,028,981 (GRCm39)	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,190,813 (GRCm39)	E471D	probably damaging	Het
Cks1b	T	C	3: 89,323,635 (GRCm39)	N45D	probably benign	Het
Clasrp	T	C	7: 19,321,769 (GRCm39)	T296A	probably damaging	Het
Cluap1	C	T	16: 3,727,467 (GRCm39)		probably null	Het
Cntn5	T	A	9: 9,704,903 (GRCm39)	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,920,591 (GRCm39)	Q593*	probably null	Het
Col18a1	A	T	10: 76,913,846 (GRCm39)	I457K	probably benign	Het
Crybb3	G	T	5: 113,223,834 (GRCm39)	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,417,383 (GRCm39)	A123T	probably benign	Het
Cyp2b13	C	T	7: 25,795,095 (GRCm39)	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,457,079 (GRCm39)	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,108,137 (GRCm39)	G320R	possibly damaging	Het
Dbp	T	C	7: 45,359,174 (GRCm39)	I283T	probably damaging	Het
Efcab3	T	C	11: 105,002,674 (GRCm39)	I303T	probably benign	Het
Efcab8	T	A	2: 153,629,665 (GRCm39)	V166D		Het
Efhc1	A	T	1: 21,049,744 (GRCm39)	I535F	probably benign	Het
Epb41l3	A	G	17: 69,560,409 (GRCm39)	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,035,900 (GRCm39)	T193A	unknown	Het
Fam227a	T	C	15: 79,504,913 (GRCm39)	N510S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,841 (GRCm39)	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,544,472 (GRCm39)	E78D	probably benign	Het
Gpam	C	T	19: 55,070,102 (GRCm39)	V385I	probably damaging	Het
Gpr55	A	G	1: 85,869,059 (GRCm39)	V174A	probably benign	Het
Gsdmc	T	C	15: 63,650,813 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,441,080 (GRCm39)	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,830,293 (GRCm39)	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Igsf3	G	A	3: 101,342,857 (GRCm39)	R478H	probably damaging	Het
Itgb5	A	G	16: 33,740,486 (GRCm39)	Q532R	probably benign	Het
Lztfl1	T	C	9: 123,544,395 (GRCm39)	D33G	probably null	Het
Mex3c	G	T	18: 73,723,061 (GRCm39)	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,051,366 (GRCm39)	S320T	probably benign	Het
Nsun4	A	T	4: 115,909,617 (GRCm39)	N314K	possibly damaging	Het
Omg	T	A	11: 79,393,059 (GRCm39)	E266D	probably benign	Het
Or4b12	A	T	2: 90,096,603 (GRCm39)	M57K	probably damaging	Het
Paqr9	T	A	9: 95,442,829 (GRCm39)	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,902,699 (GRCm39)		probably benign	Het
Plekhm3	T	C	1: 64,960,901 (GRCm39)	K452E	probably benign	Het
Plpbp	T	A	8: 27,535,974 (GRCm39)	I86N		Het
Prl2c1	G	T	13: 28,035,780 (GRCm39)	A51S	probably damaging	Het
Prmt8	A	T	6: 127,706,466 (GRCm39)	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,107,280 (GRCm39)	C1614*	probably null	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Rassf9	A	G	10: 102,381,461 (GRCm39)	D281G	probably benign	Het
Resf1	T	C	6: 149,228,853 (GRCm39)	I633T	probably benign	Het
Rmnd1	T	C	10: 4,377,496 (GRCm39)	D61G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,745,229 (GRCm39)	S2055P	possibly damaging	Het
Six5	G	A	7: 18,830,803 (GRCm39)	A477T	probably damaging	Het
Speg	A	G	1: 75,352,469 (GRCm39)	E129G	probably damaging	Het
Stard10	C	T	7: 100,995,320 (GRCm39)	A78V	not run	Het
Stard3	T	C	11: 98,266,502 (GRCm39)	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523 (GRCm39)	P3088S	probably damaging	Het
Tbck	A	G	3: 132,440,489 (GRCm39)	D508G	probably damaging	Het
Tgm2	T	A	2: 157,985,038 (GRCm39)	T23S	probably damaging	Het
Ttll10	G	T	4: 156,131,665 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,852,738 (GRCm39)	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,319,618 (GRCm39)	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Wnt8a	T	C	18: 34,680,588 (GRCm39)	W318R	probably damaging	Het
Zer1	A	T	2: 30,001,243 (GRCm39)	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,901,212 (GRCm39)	N380K	probably benign	Het
Zfp90	T	C	8: 107,145,725 (GRCm39)	V19A	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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
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'- TTTCATGCTGCCGAGAAGGG -3'
(R):5'- CACCAAGTAGCCATTCAGAAGTAG -3'

Sequencing Primer
(F):5'- AAGAGGCCGCCCTTCTTC -3'
(R):5'- GCCATTCAGAAGTAGATTAAATTGTG -3'

Posted On

2019-11-12