Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02850:Pjvk'

361817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pjvk

Ensembl Gene

ENSMUSG00000075267

Gene Name

pejvakin

Synonyms

LOC381375, pejvakin, Dfnb59

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL02850

Quality Score

Status

Chromosome

Chromosomal Location

76480617-76488898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76488795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 322 (V322A)

Ref Sequence

ENSEMBL: ENSMUSP00000097566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002809] [ENSMUST00000099986] [ENSMUST00000144817]

AlphaFold

Q0ZLH2

Predicted Effect

probably benign
Transcript: ENSMUST00000002809

SMART Domains

Protein: ENSMUSP00000002809
Gene: ENSMUSG00000002732

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:FKBP_C	42	138	7e-31	PFAM
EFh	145	173	1.83e1	SMART
EFh	189	217	5.38e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099986
AA Change: V322A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: V322A

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	278	7.9e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144817

SMART Domains

Protein: ENSMUSP00000119264
Gene: ENSMUSG00000075267

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	184	2.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154097

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a point mutation display increased auditory thresholds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,843,993 (GRCm39)	Y229C	probably damaging	Het
Adgrd1	A	G	5: 129,192,119 (GRCm39)	D63G	probably damaging	Het
Ahnak	A	G	19: 8,979,960 (GRCm39)	T415A	probably benign	Het
Antxr2	A	G	5: 98,151,937 (GRCm39)	V178A	probably damaging	Het
Ap1s1	A	G	5: 137,070,634 (GRCm39)	Y127H	possibly damaging	Het
Bbs2	A	T	8: 94,803,710 (GRCm39)	M510K	probably benign	Het
Cbfa2t2	A	G	2: 154,377,090 (GRCm39)	N591S	probably damaging	Het
Chd6	T	A	2: 160,861,536 (GRCm39)	R504*	probably null	Het
Cnpy3	A	G	17: 47,054,217 (GRCm39)		probably benign	Het
Cntn2	T	G	1: 132,446,114 (GRCm39)	K824T	probably benign	Het
Cntnap3	T	C	13: 64,905,223 (GRCm39)	T853A	probably damaging	Het
Cog4	G	A	8: 111,593,221 (GRCm39)	G444D	possibly damaging	Het
Col18a1	A	T	10: 76,932,300 (GRCm39)	I510N	probably damaging	Het
Cxcr5	G	A	9: 44,425,403 (GRCm39)	R85W	probably damaging	Het
Cyth3	C	A	5: 143,672,259 (GRCm39)	T58K	probably damaging	Het
Dio3	T	C	12: 110,245,970 (GRCm39)	V102A	probably damaging	Het
Dmbx1	G	A	4: 115,775,204 (GRCm39)	R359C	probably damaging	Het
Fam3d	C	T	14: 8,361,475 (GRCm38)		probably null	Het
Fras1	C	A	5: 96,926,034 (GRCm39)	P3746Q	probably damaging	Het
Glt1d1	T	A	5: 127,721,409 (GRCm39)	M32K	probably benign	Het
Hunk	A	G	16: 90,229,460 (GRCm39)	N31S	probably damaging	Het
Ints11	T	C	4: 155,959,761 (GRCm39)	S123P	probably benign	Het
Izumo2	T	C	7: 44,358,339 (GRCm39)	L58S	probably damaging	Het
Izumo4	A	G	10: 80,540,032 (GRCm39)		probably benign	Het
Kcnh7	T	A	2: 62,618,029 (GRCm39)	K487*	probably null	Het
Lrp12	T	C	15: 39,741,971 (GRCm39)	Y248C	probably damaging	Het
Maco1	T	C	4: 134,555,697 (GRCm39)	K259E	probably benign	Het
Map3k4	T	C	17: 12,490,801 (GRCm39)	D210G	probably damaging	Het
Mast4	T	C	13: 102,890,740 (GRCm39)	D1038G	probably damaging	Het
Noa1	T	C	5: 77,442,338 (GRCm39)	T651A	probably benign	Het
Nop2	A	C	6: 125,121,048 (GRCm39)	K610T	possibly damaging	Het
Nop2	G	T	6: 125,121,033 (GRCm39)	G605V	probably benign	Het
Npvf	G	A	6: 50,629,670 (GRCm39)	R107W	probably benign	Het
Or10ad1b	A	G	15: 98,125,232 (GRCm39)	V98A	probably benign	Het
Or2h2c	T	C	17: 37,422,865 (GRCm39)	N3S	probably benign	Het
Oxr1	A	G	15: 41,718,329 (GRCm39)	T775A	probably damaging	Het
P2ry13	C	T	3: 59,117,029 (GRCm39)	A250T	probably damaging	Het
Pcsk9	A	T	4: 106,316,062 (GRCm39)	V127E	probably damaging	Het
Piezo2	G	A	18: 63,153,704 (GRCm39)	S2547F	probably benign	Het
Pinx1	A	G	14: 64,156,609 (GRCm39)	T179A	probably damaging	Het
Pla2r1	T	A	2: 60,332,413 (GRCm39)	R476S	probably benign	Het
Polb	A	G	8: 23,138,277 (GRCm39)		probably benign	Het
Polg2	C	T	11: 106,659,293 (GRCm39)	D407N	probably damaging	Het
Pou5f2	G	A	13: 78,173,178 (GRCm39)	R40Q	probably benign	Het
Sctr	T	C	1: 119,972,393 (GRCm39)	M193T	possibly damaging	Het
Sctr	T	A	1: 119,949,909 (GRCm39)	C33S	probably damaging	Het
Sema5b	T	C	16: 35,480,885 (GRCm39)	S819P	probably benign	Het
Setd1b	C	T	5: 123,286,652 (GRCm39)	T566I	unknown	Het
Sptbn4	G	A	7: 27,126,258 (GRCm39)	R222C	possibly damaging	Het
Taf5l	A	G	8: 124,730,197 (GRCm39)	V129A	possibly damaging	Het
Tmem163	C	T	1: 127,427,984 (GRCm39)	V201I	probably benign	Het
Ube3b	T	C	5: 114,544,310 (GRCm39)	L569P	probably damaging	Het
Vwa3a	A	G	7: 120,372,515 (GRCm39)	E301G	probably benign	Het
Wnk1	T	C	6: 119,914,823 (GRCm39)	I1660V	probably benign	Het
Zbtb22	T	A	17: 34,135,987 (GRCm39)	L44Q	probably damaging	Het
Zfp691	T	C	4: 119,027,389 (GRCm39)	D281G	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	probably benign	Het

Other mutations in Pjvk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Pjvk	APN	2	76,487,883 (GRCm39)	unclassified	probably benign
IGL01805:Pjvk	APN	2	76,487,858 (GRCm39)	missense	probably benign	0.11
IGL01821:Pjvk	APN	2	76,486,259 (GRCm39)	missense	probably damaging	0.96
R1757:Pjvk	UTSW	2	76,486,232 (GRCm39)	missense	probably benign
R1851:Pjvk	UTSW	2	76,487,775 (GRCm39)	critical splice acceptor site	probably null
R2152:Pjvk	UTSW	2	76,488,713 (GRCm39)	missense	probably benign	0.10
R2265:Pjvk	UTSW	2	76,487,797 (GRCm39)	missense	possibly damaging	0.84
R4439:Pjvk	UTSW	2	76,481,750 (GRCm39)	missense	probably damaging	1.00
R5207:Pjvk	UTSW	2	76,480,734 (GRCm39)	critical splice acceptor site	probably null
R5381:Pjvk	UTSW	2	76,481,904 (GRCm39)	splice site	probably null
R5819:Pjvk	UTSW	2	76,488,713 (GRCm39)	missense	probably benign
R6165:Pjvk	UTSW	2	76,480,562 (GRCm39)	splice site	probably null
R7148:Pjvk	UTSW	2	76,488,831 (GRCm39)	missense	possibly damaging	0.86
R7559:Pjvk	UTSW	2	76,486,154 (GRCm39)	missense	probably benign	0.07
R7573:Pjvk	UTSW	2	76,487,809 (GRCm39)	missense	probably benign	0.03
R7772:Pjvk	UTSW	2	76,487,877 (GRCm39)	critical splice donor site	probably null
R8475:Pjvk	UTSW	2	76,480,901 (GRCm39)	missense	probably benign
R9665:Pjvk	UTSW	2	76,487,827 (GRCm39)	missense	probably benign
X0026:Pjvk	UTSW	2	76,480,878 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-12-18