Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:Jph4'

26568

Institutional Source

Beutler Lab

Gene Symbol

Jph4

Ensembl Gene

ENSMUSG00000022208

Gene Name

junctophilin 4

Synonyms

JP-4, 9330157P13Rik, JPHL1

MMRRC Submission

038427-MU

Accession Numbers

Essential gene?

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

Stock #

R0142 (G1)

Quality Score

132

Status

Validated (trace)

Chromosome

Chromosomal Location

55344283-55354392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55345783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 625 (Q625K)

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: Q625K

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
AA Change: Q625K

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: Q625K

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208
AA Change: Q625K

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: ENSMUST00000133954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153702

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

Meta Mutation Damage Score

0.0743

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,079,467 (GRCm39)	D1229A	probably damaging	Het
Abhd8	A	C	8: 71,914,506 (GRCm39)	F41V	probably damaging	Het
Ago4	T	G	4: 126,410,725 (GRCm39)	E222A	probably benign	Het
Ap3b2	T	C	7: 81,122,828 (GRCm39)	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,418,409 (GRCm39)	T749M	probably benign	Het
Bicc1	T	C	10: 70,761,200 (GRCm39)	K937E	probably damaging	Het
Bmi1	G	A	2: 18,688,095 (GRCm39)		probably null	Het
Boc	A	C	16: 44,310,604 (GRCm39)	I772S	probably damaging	Het
Brd10	A	G	19: 29,695,654 (GRCm39)	S1347P	possibly damaging	Het
C2	T	A	17: 35,092,504 (GRCm39)	I178F	possibly damaging	Het
Cacna1c	G	T	6: 118,580,843 (GRCm39)	A1416E	probably damaging	Het
Chst10	A	G	1: 38,910,810 (GRCm39)	L118P	probably damaging	Het
Crybg1	G	A	10: 43,875,059 (GRCm39)	T683I	possibly damaging	Het
Cul5	C	T	9: 53,546,350 (GRCm39)	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,010,415 (GRCm39)	R211I	probably benign	Het
Emilin1	A	G	5: 31,071,264 (GRCm39)	T16A	probably benign	Het
Ercc6l2	A	C	13: 64,020,320 (GRCm39)		probably benign	Het
Fsd2	T	A	7: 81,209,683 (GRCm39)	D53V	probably damaging	Het
Galnt13	A	G	2: 54,988,615 (GRCm39)	D479G	probably damaging	Het
Grk3	A	T	5: 113,062,919 (GRCm39)	W643R	probably damaging	Het
Hdgf	G	A	3: 87,820,416 (GRCm39)	A4T	possibly damaging	Het
Hnrnpr	T	A	4: 136,054,593 (GRCm39)	V182E	probably damaging	Het
Ipo13	A	C	4: 117,762,766 (GRCm39)	L279R	probably damaging	Het
Itga9	C	A	9: 118,465,654 (GRCm39)	N169K	probably damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Kctd3	A	C	1: 188,728,595 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,742,954 (GRCm39)	S570C	probably damaging	Het
Klhl5	G	A	5: 65,300,693 (GRCm39)	W164*	probably null	Het
Lacc1	A	T	14: 77,268,239 (GRCm39)	H357Q	probably benign	Het
Lama2	A	G	10: 27,063,841 (GRCm39)	I1316T	probably benign	Het
Lcp2	C	T	11: 34,032,418 (GRCm39)	P332L	probably damaging	Het
Map3k6	A	T	4: 132,978,257 (GRCm39)	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,916,234 (GRCm39)	V252A	probably benign	Het
Myo16	T	A	8: 10,619,790 (GRCm39)	I1447N	probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Myo5a	C	T	9: 75,067,856 (GRCm39)	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560 (GRCm38)	R539C	possibly damaging	Het
Nfix	A	T	8: 85,448,315 (GRCm39)	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,073,368 (GRCm39)	R203G	probably benign	Het
Nup210l	G	A	3: 90,079,420 (GRCm39)	G968D	probably damaging	Het
Or10q1	A	T	19: 13,726,619 (GRCm39)	I50F	probably benign	Het
Or2ag15	G	T	7: 106,340,972 (GRCm39)	H56Q	probably benign	Het
Or8b37	A	T	9: 37,959,406 (GRCm39)	H296L	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Plcz1	A	G	6: 139,953,423 (GRCm39)	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,343,384 (GRCm39)	P808T	probably damaging	Het
Srpk2	T	C	5: 23,732,928 (GRCm39)	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232 (GRCm39)	V830A	probably benign	Het
Tesc	A	T	5: 118,194,635 (GRCm39)	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,334 (GRCm39)	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,730,212 (GRCm39)	D704G	possibly damaging	Het
Tob1	T	C	11: 94,105,423 (GRCm39)	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,965,280 (GRCm39)	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,425,323 (GRCm39)	K1716R	probably benign	Het
Uqcrfs1	A	G	13: 30,724,925 (GRCm39)	V205A	probably benign	Het
Usp29	G	A	7: 6,965,334 (GRCm39)	M392I	probably benign	Het
Uspl1	A	T	5: 149,125,159 (GRCm39)	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783 (GRCm39)	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,199,372 (GRCm39)	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,400,009 (GRCm39)	C553S	probably damaging	Het
Vwce	A	T	19: 10,641,976 (GRCm39)	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,807,444 (GRCm39)		probably null	Het
Zfp423	A	T	8: 88,506,968 (GRCm39)	C1000*	probably null	Het
Zscan20	A	G	4: 128,479,630 (GRCm39)	F954L	probably benign	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
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'- TTCCAGGAGATTCCTCAGGACACC -3'
(R):5'- ACCCTTCAGCTTTGCTGATAAAGCC -3'

Sequencing Primer
(F):5'- TCTGAGAGAGAACAGCCCTTC -3'
(R):5'- CTTTGCTGATAAAGCCAGAGC -3'

Posted On

2013-04-17