Mutagenetix > Incidental Mutation

Incidental Mutation 'R9456:Jph4'

714601

Institutional Source

Beutler Lab

Gene Symbol

Jph4

Ensembl Gene

ENSMUSG00000022208

Gene Name

junctophilin 4

Synonyms

JP-4, 9330157P13Rik, JPHL1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R9456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55344283-55354392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55351090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 309 (W309R)

Ref Sequence

ENSEMBL: ENSMUSP00000022819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000124493]

AlphaFold

Q80WT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022819
AA Change: W309R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
AA Change: W309R

Domain	Start	End	E-Value	Type
MORN	13	34	1.63e0	SMART
MORN	59	80	1.62e-1	SMART
MORN	104	125	4.76e-2	SMART
MORN	127	148	5.26e-4	SMART
low complexity region	170	180	N/A	INTRINSIC
low complexity region	216	246	N/A	INTRINSIC
MORN	280	301	1.37e-2	SMART
MORN	303	324	3.29e-5	SMART
low complexity region	367	406	N/A	INTRINSIC
low complexity region	453	467	N/A	INTRINSIC
low complexity region	528	553	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000124493
AA Change: W309R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208
AA Change: W309R

Domain	Start	End	E-Value	Type
MORN	13	34	1.63e0	SMART
MORN	59	80	1.62e-1	SMART
MORN	104	125	4.76e-2	SMART
MORN	127	148	5.26e-4	SMART
low complexity region	170	180	N/A	INTRINSIC
low complexity region	216	246	N/A	INTRINSIC
MORN	280	301	1.37e-2	SMART
MORN	303	324	3.29e-5	SMART
low complexity region	367	406	N/A	INTRINSIC
low complexity region	453	467	N/A	INTRINSIC
low complexity region	528	553	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	C	18: 10,645,121 (GRCm39)	D391G	probably benign	Het
Arhgdia	A	C	11: 120,470,068 (GRCm39)	W202G	probably damaging	Het
Atp2a3	A	T	11: 72,871,131 (GRCm39)	D575V	probably benign	Het
Cep350	C	A	1: 155,744,457 (GRCm39)	V2121L	probably benign	Het
Clcn2	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 20,534,702 (GRCm39)		probably benign	Het
Cldn9	A	T	17: 23,902,556 (GRCm39)	V23E	probably damaging	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Cmbl	A	G	15: 31,589,948 (GRCm39)	D226G	probably damaging	Het
Dennd4b	C	T	3: 90,178,515 (GRCm39)	T537I	probably damaging	Het
Dnah7b	C	A	1: 46,165,953 (GRCm39)	D539E	possibly damaging	Het
Fam219a	T	C	4: 41,521,871 (GRCm39)	T70A	probably damaging	Het
Fat4	T	A	3: 38,942,571 (GRCm39)	V488E	possibly damaging	Het
Gm3336	A	G	8: 71,174,740 (GRCm39)	*96W	probably null	Het
Hectd1	A	G	12: 51,832,584 (GRCm39)	I930T	probably benign	Het
Hmcn1	A	T	1: 150,506,053 (GRCm39)	C3824*	probably null	Het
Ift140	T	C	17: 25,254,758 (GRCm39)	F413L	probably benign	Het
Itfg1	A	G	8: 86,565,566 (GRCm39)	V90A	probably benign	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Klhl5	T	C	5: 65,305,939 (GRCm39)	F302S	probably damaging	Het
Klk1b8	T	C	7: 43,453,177 (GRCm39)	M256T	probably benign	Het
Klre1	A	T	6: 129,559,368 (GRCm39)	R99S	probably benign	Het
Krt79	T	C	15: 101,839,904 (GRCm39)	T364A	probably benign	Het
Lin7a	C	T	10: 107,218,483 (GRCm39)	P131L	possibly damaging	Het
Lrrc49	A	G	9: 60,594,699 (GRCm39)	Y9H	probably benign	Het
Lrrc8a	T	A	2: 30,145,663 (GRCm39)	I159N	probably damaging	Het
Mdga2	T	C	12: 66,615,532 (GRCm39)	S692G	probably benign	Het
Myo15a	G	A	11: 60,392,668 (GRCm39)	V1017M		Het
Nol4	T	C	18: 23,172,897 (GRCm39)	D68G	probably benign	Het
Or4f53	T	C	2: 111,088,348 (GRCm39)	V296A	probably benign	Het
Or6c75	T	C	10: 129,337,515 (GRCm39)	V254A	probably damaging	Het
Pigw	C	A	11: 84,768,040 (GRCm39)	A430S	probably benign	Het
Pla2g4c	T	C	7: 13,077,900 (GRCm39)	L356P	probably damaging	Het
Prorp	T	C	12: 55,385,015 (GRCm39)	V410A	probably damaging	Het
Prr5	A	G	15: 84,585,682 (GRCm39)	T226A	probably benign	Het
Pygo1	C	T	9: 72,833,056 (GRCm39)		probably benign	Het
Rnf214	A	G	9: 45,779,286 (GRCm39)	I333T	possibly damaging	Het
Septin3	A	G	15: 82,167,352 (GRCm39)	I86V	probably benign	Het
Slc30a3	AGGGCTTACCTGAGCGG	AGG	5: 31,246,889 (GRCm39)		probably null	Het
Socs5	C	A	17: 87,442,266 (GRCm39)	T402K	probably damaging	Het
Speer3	T	A	5: 13,846,368 (GRCm39)	N229K		Het
Stk16	T	C	1: 75,187,804 (GRCm39)		probably benign	Het
Taar7d	T	A	10: 23,903,287 (GRCm39)	F56L	probably benign	Het
Tmprss2	C	T	16: 97,392,669 (GRCm39)	V93I	probably benign	Het
Tnpo2	G	A	8: 85,774,015 (GRCm39)	E350K	probably benign	Het
Tor1aip2	C	T	1: 155,937,525 (GRCm39)	P87S	possibly damaging	Het
Trgv7	A	T	13: 19,362,385 (GRCm39)	R25*	probably null	Het
Ush2a	A	G	1: 188,558,589 (GRCm39)	E3606G	probably benign	Het
Zeb1	C	T	18: 5,766,709 (GRCm39)	Q407*	probably null	Het
Zfp609	A	G	9: 65,611,125 (GRCm39)	S613P		Het
Zfp735	A	G	11: 73,602,403 (GRCm39)	N449S	possibly damaging	Het

Other mutations in Jph4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0108:Jph4	UTSW	14	55,346,757 (GRCm39)	missense	probably benign	0.43
R0142:Jph4	UTSW	14	55,345,783 (GRCm39)	missense	probably benign	0.23
R0332:Jph4	UTSW	14	55,351,467 (GRCm39)	missense	possibly damaging	0.61
R1610:Jph4	UTSW	14	55,351,560 (GRCm39)	missense	probably damaging	0.99
R1829:Jph4	UTSW	14	55,352,368 (GRCm39)	missense	probably damaging	0.99
R1912:Jph4	UTSW	14	55,345,818 (GRCm39)	missense	probably benign	0.38
R2157:Jph4	UTSW	14	55,350,984 (GRCm39)	missense	probably benign	0.01
R4073:Jph4	UTSW	14	55,352,497 (GRCm39)	missense	probably benign	0.00
R4569:Jph4	UTSW	14	55,352,503 (GRCm39)	missense	probably damaging	0.96
R4796:Jph4	UTSW	14	55,347,165 (GRCm39)	missense	probably damaging	1.00
R6220:Jph4	UTSW	14	55,347,542 (GRCm39)	missense	probably benign	0.05
R7188:Jph4	UTSW	14	55,352,664 (GRCm39)	missense	probably damaging	0.99
R7314:Jph4	UTSW	14	55,347,196 (GRCm39)	unclassified	probably benign
R7814:Jph4	UTSW	14	55,347,192 (GRCm39)	missense	probably damaging	1.00
R8182:Jph4	UTSW	14	55,347,213 (GRCm39)	missense	possibly damaging	0.82
R8874:Jph4	UTSW	14	55,351,534 (GRCm39)	missense	possibly damaging	0.77
R9308:Jph4	UTSW	14	55,346,981 (GRCm39)	missense	probably damaging	1.00
X0020:Jph4	UTSW	14	55,352,428 (GRCm39)	missense	probably damaging	1.00
X0061:Jph4	UTSW	14	55,351,068 (GRCm39)	missense	probably damaging	1.00
X0067:Jph4	UTSW	14	55,346,840 (GRCm39)	missense	probably benign	0.00
Z1176:Jph4	UTSW	14	55,351,105 (GRCm39)	missense	probably benign	0.04
Z1177:Jph4	UTSW	14	55,352,383 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGTTGGATCTGTGCACCAG -3'
(R):5'- AGCAGCAGGTGGATTCTTC -3'

Sequencing Primer
(F):5'- TGGCAGCCGCAATTTCCTG -3'
(R):5'- ATCTCTACGCAGCGAGGTGAG -3'

Posted On

2022-06-15