Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02976:Jph3'

406409

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jph3

Ensembl Gene

ENSMUSG00000025318

Gene Name

junctophilin 3

Synonyms

JP-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

IGL02976

Quality Score

Status

Chromosome

Chromosomal Location

122457298-122517822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122479823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 167 (L167Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026357] [ENSMUST00000127664] [ENSMUST00000167439]

AlphaFold

Q9ET77

Predicted Effect

probably damaging
Transcript: ENSMUST00000026357
AA Change: L167Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: L167Q

Domain	Start	End	E-Value	Type
MORN	13	34	8.01e-1	SMART
MORN	37	57	6.13e1	SMART
MORN	59	80	2.99e-1	SMART
Pfam:MORN	83	104	5.9e-2	PFAM
MORN	105	126	8.1e-5	SMART
MORN	128	149	2.74e-2	SMART
low complexity region	181	192	N/A	INTRINSIC
low complexity region	212	244	N/A	INTRINSIC
MORN	286	307	2.78e-3	SMART
MORN	309	330	1.03e-6	SMART
low complexity region	360	381	N/A	INTRINSIC
low complexity region	393	409	N/A	INTRINSIC
low complexity region	481	494	N/A	INTRINSIC
transmembrane domain	721	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167439
AA Change: L167Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: L167Q

Domain	Start	End	E-Value	Type
MORN	13	34	8.01e-1	SMART
MORN	37	57	6.13e1	SMART
MORN	59	80	2.99e-1	SMART
Pfam:MORN	83	104	5.8e-2	PFAM
MORN	105	126	8.1e-5	SMART
MORN	128	149	2.74e-2	SMART
low complexity region	181	192	N/A	INTRINSIC
low complexity region	212	244	N/A	INTRINSIC
MORN	286	307	2.78e-3	SMART
MORN	309	330	1.03e-6	SMART
low complexity region	360	381	N/A	INTRINSIC
low complexity region	393	409	N/A	INTRINSIC
low complexity region	481	494	N/A	INTRINSIC
transmembrane domain	721	743	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172209

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,816,845 (GRCm39)	T84A	possibly damaging	Het
Adgrd1	T	A	5: 129,208,661 (GRCm39)	S288T	probably benign	Het
Ano7	T	A	1: 93,330,395 (GRCm39)	D806E	possibly damaging	Het
Arl6	A	G	16: 59,444,259 (GRCm39)	L79P	probably damaging	Het
Card6	A	T	15: 5,129,310 (GRCm39)	C695*	probably null	Het
Carmil1	T	C	13: 24,276,534 (GRCm39)	N610S	possibly damaging	Het
Cdc40	A	G	10: 40,758,917 (GRCm39)	V52A	probably benign	Het
Chd4	G	A	6: 125,098,331 (GRCm39)	R369H	probably damaging	Het
Clasp2	C	T	9: 113,735,204 (GRCm39)	P1031L	probably damaging	Het
Cldn34d	C	T	X: 75,626,690 (GRCm39)	A121T	probably benign	Het
Clmp	A	C	9: 40,692,520 (GRCm39)	Y263S	possibly damaging	Het
Cntn5	A	G	9: 10,419,104 (GRCm39)		probably benign	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fut1	C	T	7: 45,268,744 (GRCm39)	R233C	probably damaging	Het
Gcdh	A	C	8: 85,615,207 (GRCm39)	Y398D	probably damaging	Het
Gm26741	T	G	10: 52,234,910 (GRCm39)	S16R	possibly damaging	Het
Jup	A	G	11: 100,269,192 (GRCm39)	V407A	probably benign	Het
Kif17	C	T	4: 137,996,374 (GRCm39)	A117V	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Magi2	C	T	5: 20,739,473 (GRCm39)	P349S	probably damaging	Het
Mlycd	T	C	8: 120,128,224 (GRCm39)	M177T	possibly damaging	Het
Mocos	A	G	18: 24,799,626 (GRCm39)	K287E	possibly damaging	Het
Morc2b	T	A	17: 33,356,497 (GRCm39)	H425L	possibly damaging	Het
Mrpl9	T	A	3: 94,355,084 (GRCm39)		probably benign	Het
Myo3a	G	A	2: 22,434,494 (GRCm39)	W825*	probably null	Het
Npas2	T	C	1: 39,326,565 (GRCm39)	S17P	probably damaging	Het
Nrk	A	G	X: 137,892,817 (GRCm39)	I1174V	probably benign	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or4d11	A	T	19: 12,013,337 (GRCm39)	Y256*	probably null	Het
Or4k2	G	A	14: 50,423,889 (GRCm39)	Q262*	probably null	Het
Parpbp	A	G	10: 87,947,456 (GRCm39)		probably null	Het
Pcdh10	T	C	3: 45,334,448 (GRCm39)	V254A	possibly damaging	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Ptpn1	T	C	2: 167,813,704 (GRCm39)	V149A	probably benign	Het
Rassf4	T	C	6: 116,615,209 (GRCm39)	E320G	probably damaging	Het
Rgl2	T	A	17: 34,152,936 (GRCm39)	D448E	possibly damaging	Het
Rnf32	C	T	5: 29,411,710 (GRCm39)		probably null	Het
Rpa1	T	A	11: 75,203,628 (GRCm39)	D358V	probably damaging	Het
Sdk2	T	C	11: 113,742,668 (GRCm39)	N747S	probably damaging	Het
Slc17a4	A	C	13: 24,089,407 (GRCm39)	M170R	probably damaging	Het
Slc5a4a	G	A	10: 76,006,527 (GRCm39)	V310M	possibly damaging	Het
Spag9	G	A	11: 93,974,779 (GRCm39)	R463H	probably benign	Het
Spmip5	A	T	19: 58,777,552 (GRCm39)	V78E	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt10	A	G	15: 89,698,682 (GRCm39)	S221P	probably benign	Het
Tlk1	T	A	2: 70,551,935 (GRCm39)	K579*	probably null	Het
Tubgcp3	T	C	8: 12,682,300 (GRCm39)	Y673C	probably damaging	Het
Vmn1r223	T	C	13: 23,434,165 (GRCm39)	F253S	probably damaging	Het
Vmn2r83	T	C	10: 79,304,832 (GRCm39)	M14T	probably benign	Het
Zfp59	A	G	7: 27,552,821 (GRCm39)	D91G	probably benign	Het

Other mutations in Jph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0142:Jph3	UTSW	8	122,480,110 (GRCm39)	missense	possibly damaging	0.84
R0200:Jph3	UTSW	8	122,511,572 (GRCm39)	missense	probably benign	0.36
R0238:Jph3	UTSW	8	122,480,459 (GRCm39)	missense	possibly damaging	0.83
R0238:Jph3	UTSW	8	122,480,459 (GRCm39)	missense	possibly damaging	0.83
R1550:Jph3	UTSW	8	122,511,598 (GRCm39)	missense	possibly damaging	0.74
R2127:Jph3	UTSW	8	122,511,881 (GRCm39)	missense	probably benign	0.09
R2160:Jph3	UTSW	8	122,479,970 (GRCm39)	missense	possibly damaging	0.50
R3901:Jph3	UTSW	8	122,480,158 (GRCm39)	missense	possibly damaging	0.64
R3902:Jph3	UTSW	8	122,480,158 (GRCm39)	missense	possibly damaging	0.64
R5126:Jph3	UTSW	8	122,479,787 (GRCm39)	missense	possibly damaging	0.70
R6073:Jph3	UTSW	8	122,480,291 (GRCm39)	missense	probably damaging	1.00
R6130:Jph3	UTSW	8	122,479,826 (GRCm39)	missense	probably damaging	0.98
R6794:Jph3	UTSW	8	122,512,124 (GRCm39)	missense	probably benign	0.10
R6923:Jph3	UTSW	8	122,480,110 (GRCm39)	missense	possibly damaging	0.84
R7337:Jph3	UTSW	8	122,480,441 (GRCm39)	missense	probably benign	0.03
R7897:Jph3	UTSW	8	122,516,136 (GRCm39)	critical splice acceptor site	probably null
R8041:Jph3	UTSW	8	122,516,201 (GRCm39)	missense	probably benign	0.38
R8901:Jph3	UTSW	8	122,457,561 (GRCm39)	missense	probably damaging	0.96
R9110:Jph3	UTSW	8	122,516,201 (GRCm39)	missense	probably benign	0.04
R9401:Jph3	UTSW	8	122,511,854 (GRCm39)	missense	probably damaging	0.98
R9689:Jph3	UTSW	8	122,480,377 (GRCm39)	missense	probably benign	0.23
R9705:Jph3	UTSW	8	122,508,913 (GRCm39)	missense	probably damaging	1.00
R9781:Jph3	UTSW	8	122,457,380 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02