Mutagenetix > Incidental Mutation

Incidental Mutation 'R0108:Jph4'

64174

Institutional Source

Beutler Lab

Gene Symbol

Jph4

Ensembl Gene

ENSMUSG00000022208

Gene Name

junctophilin 4

Synonyms

JP-4, 9330157P13Rik, JPHL1

MMRRC Submission

038394-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R0108 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

55344283-55354392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55346757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 597 (R597G)

Ref Sequence

ENSEMBL: ENSMUSP00000121893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022819] [ENSMUST00000036041] [ENSMUST00000124493] [ENSMUST00000127870] [ENSMUST00000131323] [ENSMUST00000151314] [ENSMUST00000170285]

AlphaFold

Q80WT0

Predicted Effect

probably benign
Transcript: ENSMUST00000022819
AA Change: R597G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
AA Change: R597G

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 benign
Transcript: ENSMUST00000036041

SMART Domains

Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	575	2.7e-149	PFAM
low complexity region	624	631	N/A	INTRINSIC
Alpha_adaptinC2	668	786	5.73e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124493
AA Change: R597G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208
AA Change: R597G

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 benign
Transcript: ENSMUST00000127870

SMART Domains

Protein: ENSMUSP00000116698
Gene: ENSMUSG00000040701

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	197	5.7e-57	PFAM
low complexity region	222	235	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131323

SMART Domains

Protein: ENSMUSP00000115441
Gene: ENSMUSG00000040701

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	197	5.7e-57	PFAM
low complexity region	222	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137548

Predicted Effect

probably benign
Transcript: ENSMUST00000151314

SMART Domains

Protein: ENSMUSP00000122796
Gene: ENSMUSG00000040701

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	197	5.7e-57	PFAM
low complexity region	222	235	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170285

SMART Domains

Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	24	575	1.5e-149	PFAM
low complexity region	624	631	N/A	INTRINSIC
Alpha_adaptinC2	668	786	5.73e-39	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	C	15: 11,311,184 (GRCm39)	V1147A	probably benign	Het
Arid5b	T	C	10: 68,114,559 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,230,130 (GRCm39)	N655D	possibly damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mpdz	C	T	4: 81,300,042 (GRCm39)	V319I	probably damaging	Het
Myh14	A	G	7: 44,283,943 (GRCm39)	V654A	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nod1	A	G	6: 54,920,734 (GRCm39)	F528S	probably benign	Het
Obscn	T	C	11: 58,913,200 (GRCm39)	D6939G	probably damaging	Het
Or2bd2	C	T	7: 6,443,399 (GRCm39)	R167C	probably damaging	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Ptprj	A	T	2: 90,300,121 (GRCm39)		probably null	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Tas2r120	T	A	6: 132,634,809 (GRCm39)		probably null	Het
Topaz1	A	T	9: 122,604,674 (GRCm39)	I1093L	probably benign	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het

Other mutations in Jph4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9456:Jph4	UTSW	14	55,351,090 (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'- GCCTGGAATCCAATCAGAGCAGAG -3'
(R):5'- GCAGTGACAGTTCAGGAAGTCTTCG -3'

Sequencing Primer
(F):5'- TCCTATTTCTGGGCACCAAAGAG -3'
(R):5'- TCTTCGAGAGGAGGAGGGG -3'

Posted On

2013-08-06