Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Jph4'

503973

Institutional Source

Beutler Lab

Gene Symbol

Jph4

Ensembl Gene

ENSMUSG00000022208

Gene Name

junctophilin 4

Synonyms

JP-4, 9330157P13Rik, JPHL1

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

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

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55344283-55354392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55347542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 421 (E421G)

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: E421G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
AA Change: E421G

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: E421G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208
AA Change: E421G

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: ENSMUST00000144197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137481

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

0.0711

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,135,578 (GRCm39)	D160G	probably damaging	Het
Acap1	A	G	11: 69,780,505 (GRCm39)	F15S	probably damaging	Het
Adam30	A	T	3: 98,068,625 (GRCm39)	S153C	probably damaging	Het
Afp	A	T	5: 90,652,269 (GRCm39)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,246,095 (GRCm39)	H729Q	unknown	Het
Armh3	T	C	19: 45,834,554 (GRCm39)	E618G	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bcr	A	G	10: 74,898,124 (GRCm39)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ctns	T	C	11: 73,083,954 (GRCm39)	T23A	probably benign	Het
Ddx54	T	A	5: 120,758,754 (GRCm39)	N332K	probably benign	Het
Dysf	T	A	6: 84,126,727 (GRCm39)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,122,939 (GRCm39)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,390,352 (GRCm39)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,947 (GRCm39)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10645	A	G	8: 83,892,386 (GRCm39)		probably benign	Het
Gm10735	T	C	13: 113,178,030 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,521,134 (GRCm39)	L388P	probably damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,341,070 (GRCm39)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,557,112 (GRCm39)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,226,338 (GRCm39)	N96I	probably damaging	Het
Isl1	T	C	13: 116,439,803 (GRCm39)	T182A	probably benign	Het
Lrrc45	T	C	11: 120,610,353 (GRCm39)	I488T	probably benign	Het
Mroh8	A	G	2: 157,075,083 (GRCm39)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,594,927 (GRCm39)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,784,547 (GRCm39)	N68K	probably benign	Het
Myo18b	A	G	5: 112,905,373 (GRCm39)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,160,984 (GRCm39)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,643,987 (GRCm39)		probably null	Het
Nlrp1a	C	A	11: 71,033,164 (GRCm39)	S10I	probably benign	Het
Npas2	A	T	1: 39,375,142 (GRCm39)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,395,904 (GRCm39)	T84R	probably benign	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,699,700 (GRCm39)	C921R	probably damaging	Het
Pcdha9	A	G	18: 37,131,531 (GRCm39)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,822,177 (GRCm39)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,115,410 (GRCm39)	W726*	probably null	Het
Rassf8	G	A	6: 145,762,859 (GRCm39)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,698,775 (GRCm39)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,282,608 (GRCm39)	V349G	probably damaging	Het
Rps18	A	T	17: 34,174,110 (GRCm39)	V15E	probably damaging	Het
Rptor	A	T	11: 119,788,268 (GRCm39)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 95,385,378 (GRCm39)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,875 (GRCm39)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,091,313 (GRCm39)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,274,800 (GRCm39)	M295K	possibly damaging	Het
Sv2c	T	C	13: 96,113,134 (GRCm39)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,750,947 (GRCm39)	W252*	probably null	Het
Tes	T	A	6: 17,086,195 (GRCm39)	C29*	probably null	Het
Thsd4	A	G	9: 59,890,030 (GRCm39)	W856R	probably damaging	Het
Treml4	A	T	17: 48,571,876 (GRCm39)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,082,300 (GRCm39)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,257,973 (GRCm39)	D128G	probably damaging	Het
Ubr3	T	A	2: 69,850,819 (GRCm39)	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,434 (GRCm39)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,315,807 (GRCm39)	D86E	probably benign	Het
Zfp184	T	G	13: 22,144,377 (GRCm39)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,927,141 (GRCm39)	F341L	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
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
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'- TAGCACTGTCCAGGGTTCTG -3'
(R):5'- CAGAGGTAGCTCAAACCAGTC -3'

Sequencing Primer
(F):5'- GGATACCTCCAACCTTCCATTAC -3'
(R):5'- GCTCAAACCAGTCAAATGTGATG -3'

Posted On

2018-02-27