Mutagenetix > Incidental Mutation

Incidental Mutation 'R1912:Jph4'

210446

Institutional Source

Beutler Lab

Gene Symbol

Jph4

Ensembl Gene

ENSMUSG00000022208

Gene Name

junctophilin 4

Synonyms

JPHL1, JP-4, 9330157P13Rik

MMRRC Submission

039930-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R1912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55106826-55116935 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55108361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 613 (A613V)

Ref Sequence

ENSEMBL: ENSMUSP00000121893 (fasta)

Gene Model

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

AlphaFold

Q80WT0

Predicted Effect

probably benign
Transcript: ENSMUST00000022819
AA Change: A613V

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022819
Gene: ENSMUSG00000022208
AA Change: A613V

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: A613V

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121893
Gene: ENSMUSG00000022208
AA Change: A613V

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: ENSMUST00000137481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153702

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

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

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019 (GRCm38)	W144C	probably benign	Het
2810474O19Rik	T	A	6: 149,328,844 (GRCm38)	D1129E	possibly damaging	Het
2900092C05Rik	A	G	7: 12,554,655 (GRCm38)	M132V	probably benign	Het
4921524L21Rik	T	A	18: 6,620,205 (GRCm38)	I45N	possibly damaging	Het
9230113P08Rik	A	T	9: 35,908,619 (GRCm38)	T23S	probably benign	Het
Abcb6	A	G	1: 75,179,955 (GRCm38)	V55A	probably benign	Het
Adam28	A	T	14: 68,644,331 (GRCm38)	D105E	probably benign	Het
Ahnak	T	C	19: 9,017,881 (GRCm38)	S5510P	probably damaging	Het
Aldh3b1	T	G	19: 3,921,187 (GRCm38)	D159A	probably damaging	Het
Alx1	A	G	10: 103,025,361 (GRCm38)	L102P	probably damaging	Het
Ankrd50	C	T	3: 38,456,776 (GRCm38)	V481I	probably benign	Het
Aox4	G	T	1: 58,264,402 (GRCm38)	G1200W	probably damaging	Het
Arhgap45	A	C	10: 80,020,690 (GRCm38)	D24A	probably benign	Het
Arhgef16	A	T	4: 154,280,323 (GRCm38)		probably null	Het
Asic4	A	T	1: 75,469,232 (GRCm38)	Y235F	possibly damaging	Het
Asph	T	C	4: 9,453,335 (GRCm38)	E646G	probably damaging	Het
Atg4d	A	G	9: 21,272,639 (GRCm38)	D350G	probably damaging	Het
Auts2	T	C	5: 131,443,574 (GRCm38)	T347A	probably damaging	Het
Bsnd	A	T	4: 106,488,030 (GRCm38)	L73*	probably null	Het
Cachd1	A	T	4: 100,953,169 (GRCm38)	S323C	probably damaging	Het
Cacna1e	A	G	1: 154,436,449 (GRCm38)	I1290T	probably damaging	Het
Cdh8	T	A	8: 99,098,870 (GRCm38)	N498Y	probably damaging	Het
Cdkn3	A	G	14: 46,769,834 (GRCm38)		probably null	Het
Celf2	A	T	2: 6,615,753 (GRCm38)	M40K	probably damaging	Het
Cfap57	A	C	4: 118,615,010 (GRCm38)	S57R	probably damaging	Het
Cfh	A	G	1: 140,136,141 (GRCm38)		probably null	Het
Chdh	A	G	14: 30,032,788 (GRCm38)	S252G	probably benign	Het
Col8a1	T	A	16: 57,627,924 (GRCm38)	I408F	unknown	Het
Corin	C	T	5: 72,358,403 (GRCm38)	C303Y	probably damaging	Het
Crlf2	C	T	5: 109,557,141 (GRCm38)	C66Y	possibly damaging	Het
Csmd1	C	T	8: 16,233,998 (GRCm38)		probably null	Het
Cyp4f16	T	C	17: 32,545,044 (GRCm38)	V270A	probably damaging	Het
Defa29	T	A	8: 21,326,012 (GRCm38)	H113L	possibly damaging	Het
Dhx35	A	T	2: 158,842,307 (GRCm38)	N501Y	probably damaging	Het
Dst	A	G	1: 34,291,850 (GRCm38)	R4690G	probably damaging	Het
Elac2	T	A	11: 64,994,263 (GRCm38)	D439E	probably benign	Het
Ercc6	A	G	14: 32,576,803 (GRCm38)	R1383G	probably damaging	Het
Fam69b	A	G	2: 26,632,704 (GRCm38)	E55G	probably damaging	Het
Fat3	T	A	9: 15,969,988 (GRCm38)	Y3196F	probably damaging	Het
Fbxw13	A	T	9: 109,181,543 (GRCm38)	D342E	probably benign	Het
Fmod	A	G	1: 134,040,720 (GRCm38)	N166S	possibly damaging	Het
Folh1	A	G	7: 86,762,967 (GRCm38)	S199P	possibly damaging	Het
Fv1	A	G	4: 147,869,778 (GRCm38)	N267S	possibly damaging	Het
Fyn	T	C	10: 39,526,832 (GRCm38)	V200A	possibly damaging	Het
Ggnbp2	T	C	11: 84,862,296 (GRCm38)	N39S	probably benign	Het
Gm10509	A	T	17: 21,690,924 (GRCm38)	I53F	possibly damaging	Het
Gpr139	A	T	7: 119,144,879 (GRCm38)	I161N	possibly damaging	Het
Grhl2	C	T	15: 37,358,407 (GRCm38)	T148I	probably damaging	Het
Hmcn1	C	A	1: 150,604,882 (GRCm38)	M4514I	probably benign	Het
Igsf10	T	G	3: 59,329,572 (GRCm38)	T1063P	probably benign	Het
Itgav	A	G	2: 83,795,486 (GRCm38)	Y792C	possibly damaging	Het
Itgb2l	T	C	16: 96,426,935 (GRCm38)	Q456R	probably benign	Het
Kcna2	A	G	3: 107,105,401 (GRCm38)	T433A	probably benign	Het
Kmt2e	A	G	5: 23,492,395 (GRCm38)	K97R	probably benign	Het
Krba1	C	A	6: 48,415,765 (GRCm38)	A871E	probably benign	Het
Loxhd1	T	C	18: 77,340,137 (GRCm38)	F468L	probably benign	Het
Lpin1	A	G	12: 16,546,727 (GRCm38)	V713A	probably damaging	Het
Ltbp2	T	A	12: 84,785,863 (GRCm38)	I67F	probably damaging	Het
Mdc1	G	A	17: 35,844,538 (GRCm38)	R35H	probably benign	Het
Mdc1	A	G	17: 35,850,811 (GRCm38)	D872G	probably benign	Het
Mgam	C	T	6: 40,764,185 (GRCm38)	Q959*	probably null	Het
Mttp	T	A	3: 138,116,027 (GRCm38)	T260S	probably benign	Het
Naalad2	A	T	9: 18,376,535 (GRCm38)	D266E	probably benign	Het
Nans	T	A	4: 46,500,162 (GRCm38)	L182H	probably damaging	Het
Nbas	T	A	12: 13,566,144 (GRCm38)	C2228S	probably benign	Het
Nfix	A	T	8: 84,721,677 (GRCm38)	V407E	probably damaging	Het
Nktr	T	A	9: 121,750,240 (GRCm38)		probably benign	Het
Nlrp10	G	A	7: 108,925,395 (GRCm38)	R293*	probably null	Het
Nrxn3	T	C	12: 88,795,342 (GRCm38)	F53S	probably damaging	Het
Olfr1126	T	C	2: 87,457,383 (GRCm38)	S73P	probably damaging	Het
Olfr212	A	G	6: 116,515,989 (GRCm38)	T71A	probably benign	Het
Olfr380	A	T	11: 73,453,994 (GRCm38)	F73I	probably damaging	Het
Olfr402	T	C	11: 74,155,885 (GRCm38)	C244R	probably damaging	Het
Olfr452	T	C	6: 42,790,477 (GRCm38)	I146T	probably benign	Het
Olfr493	A	G	7: 108,346,807 (GRCm38)	L58P	probably damaging	Het
Olfr749	G	A	14: 50,736,778 (GRCm38)	P128L	probably damaging	Het
Olfr994	T	A	2: 85,430,260 (GRCm38)	N190Y	probably damaging	Het
Oxld1	A	G	11: 120,456,906 (GRCm38)	V155A	probably damaging	Het
Pamr1	T	A	2: 102,642,300 (GRCm38)	F648Y	probably damaging	Het
Parg	T	C	14: 32,210,540 (GRCm38)	W446R	probably damaging	Het
Phf3	A	T	1: 30,804,345 (GRCm38)	H1844Q	probably damaging	Het
Phf7	T	C	14: 31,240,324 (GRCm38)	I175V	possibly damaging	Het
Pibf1	G	A	14: 99,187,809 (GRCm38)		probably null	Het
Plcxd1	A	G	5: 110,103,442 (GRCm38)	I295V	probably benign	Het
Pole2	A	C	12: 69,209,990 (GRCm38)	Y254D	probably damaging	Het
Ppm1e	T	A	11: 87,244,370 (GRCm38)	I225F	probably benign	Het
Rem1	G	A	2: 152,634,535 (GRCm38)	V238M	probably damaging	Het
Rnase2b	T	G	14: 51,162,900 (GRCm38)	V146G	probably damaging	Het
Rnf169	G	A	7: 99,926,254 (GRCm38)	T378I	probably damaging	Het
Rpf2	A	G	10: 40,236,201 (GRCm38)	F80L	probably benign	Het
Sec11c	T	A	18: 65,814,874 (GRCm38)	D128E	probably damaging	Het
Sept12	A	G	16: 4,988,553 (GRCm38)	V248A	probably damaging	Het
Serinc1	T	C	10: 57,525,451 (GRCm38)	N82S	probably benign	Het
Serpina9	A	C	12: 104,001,249 (GRCm38)	W296G	probably damaging	Het
Sgo2b	A	C	8: 63,931,469 (GRCm38)	D164E	probably damaging	Het
Slc15a3	A	G	19: 10,848,613 (GRCm38)	N223D	probably damaging	Het
Slc44a3	A	G	3: 121,532,166 (GRCm38)	Y12H	probably benign	Het
Slco3a1	A	G	7: 74,504,611 (GRCm38)	F42S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043 (GRCm38)		probably null	Het
Snx7	A	T	3: 117,829,668 (GRCm38)		probably null	Het
Sorl1	A	T	9: 42,081,950 (GRCm38)	D259E	probably damaging	Het
Stpg2	G	A	3: 139,522,981 (GRCm38)		probably null	Het
Strn	T	A	17: 78,684,395 (GRCm38)	Y165F	probably damaging	Het
Sval2	T	A	6: 41,864,320 (GRCm38)	*106R	probably null	Het
Tcaf3	A	G	6: 42,596,688 (GRCm38)	S197P	possibly damaging	Het
Tespa1	C	A	10: 130,354,723 (GRCm38)	T73N	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm38)	R637Q	probably benign	Het
Thoc5	C	A	11: 4,915,561 (GRCm38)	T380K	probably benign	Het
Tmprss7	T	A	16: 45,656,548 (GRCm38)	R784*	probably null	Het
Trank1	A	T	9: 111,390,709 (GRCm38)	L2171F	probably benign	Het
Trpm2	T	G	10: 77,945,876 (GRCm38)	K303T	probably benign	Het
Tsta3	A	T	15: 75,925,649 (GRCm38)	D278E	possibly damaging	Het
Unc80	G	A	1: 66,510,625 (GRCm38)	V681M	probably damaging	Het
Usp40	A	G	1: 87,946,646 (GRCm38)	F1131L	probably benign	Het
Vmn1r215	A	T	13: 23,076,503 (GRCm38)	I238F	possibly damaging	Het
Vwa3a	A	T	7: 120,795,627 (GRCm38)	Y890F	probably damaging	Het
Zdhhc18	A	G	4: 133,613,860 (GRCm38)	L234P	probably damaging	Het
Zfp109	A	G	7: 24,228,251 (GRCm38)	S578P	probably damaging	Het
Zfp704	T	C	3: 9,609,358 (GRCm38)	D121G	unknown	Het
Zgrf1	G	T	3: 127,563,137 (GRCm38)	V671L	probably benign	Het
Zkscan8	A	T	13: 21,520,757 (GRCm38)	C265*	probably null	Het
Zscan26	T	C	13: 21,445,140 (GRCm38)	I398V	possibly damaging	Het

Other mutations in Jph4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0108:Jph4	UTSW	14	55,109,300 (GRCm38)	missense	probably benign	0.43
R0142:Jph4	UTSW	14	55,108,326 (GRCm38)	missense	probably benign	0.23
R0332:Jph4	UTSW	14	55,114,010 (GRCm38)	missense	possibly damaging	0.61
R1610:Jph4	UTSW	14	55,114,103 (GRCm38)	missense	probably damaging	0.99
R1829:Jph4	UTSW	14	55,114,911 (GRCm38)	missense	probably damaging	0.99
R2157:Jph4	UTSW	14	55,113,527 (GRCm38)	missense	probably benign	0.01
R4073:Jph4	UTSW	14	55,115,040 (GRCm38)	missense	probably benign	0.00
R4569:Jph4	UTSW	14	55,115,046 (GRCm38)	missense	probably damaging	0.96
R4796:Jph4	UTSW	14	55,109,708 (GRCm38)	missense	probably damaging	1.00
R6220:Jph4	UTSW	14	55,110,085 (GRCm38)	missense	probably benign	0.05
R7188:Jph4	UTSW	14	55,115,207 (GRCm38)	missense	probably damaging	0.99
R7314:Jph4	UTSW	14	55,109,739 (GRCm38)	unclassified	probably benign
R7814:Jph4	UTSW	14	55,109,735 (GRCm38)	missense	probably damaging	1.00
R8182:Jph4	UTSW	14	55,109,756 (GRCm38)	missense	possibly damaging	0.82
R8874:Jph4	UTSW	14	55,114,077 (GRCm38)	missense	possibly damaging	0.77
R9308:Jph4	UTSW	14	55,109,524 (GRCm38)	missense	probably damaging	1.00
R9456:Jph4	UTSW	14	55,113,633 (GRCm38)	missense	probably damaging	1.00
X0020:Jph4	UTSW	14	55,114,971 (GRCm38)	missense	probably damaging	1.00
X0061:Jph4	UTSW	14	55,113,611 (GRCm38)	missense	probably damaging	1.00
X0067:Jph4	UTSW	14	55,109,383 (GRCm38)	missense	probably benign	0.00
Z1176:Jph4	UTSW	14	55,113,648 (GRCm38)	missense	probably benign	0.04
Z1177:Jph4	UTSW	14	55,114,926 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGGTCCAGAATAAATGAGACC -3'
(R):5'- AAGGGTGTGTTCCTCTGCTC -3'

Sequencing Primer
(F):5'- GGGTCCAGAATAAATGAGACCATCTC -3'
(R):5'- CTGCTCTCACCTGTGTGG -3'

Posted On

2014-06-30