Mutagenetix > Incidental Mutation

Incidental Mutation 'R4439:Pjvk'

329657

Institutional Source

Beutler Lab

Gene Symbol

Pjvk

Ensembl Gene

ENSMUSG00000075267

Gene Name

pejvakin

Synonyms

LOC381375, pejvakin, Dfnb59

MMRRC Submission

041704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R4439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76480617-76488898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76481750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 68 (S68P)

Ref Sequence

ENSEMBL: ENSMUSP00000114409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002808] [ENSMUST00000099986] [ENSMUST00000144817] [ENSMUST00000153471]

AlphaFold

Q0ZLH2

Predicted Effect

probably benign
Transcript: ENSMUST00000002808

SMART Domains

Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731

Domain	Start	End	E-Value	Type
DSRM	35	100	4.63e-24	SMART
DSRM	127	193	2.23e-17	SMART
DSRM	241	307	1.16e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099986
AA Change: S74P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: S74P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144817
AA Change: S74P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119264
Gene: ENSMUSG00000075267
AA Change: S74P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153471
AA Change: S68P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114409
Gene: ENSMUSG00000075267
AA Change: S68P

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	1	68	3.1e-18	PFAM

Meta Mutation Damage Score

0.5229

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

94% (50/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,384,557 (GRCm39)	T2237I	possibly damaging	Het
Adgre1	T	A	17: 57,754,954 (GRCm39)	L684Q	probably damaging	Het
Cfap157	T	A	2: 32,667,877 (GRCm39)	Y488F	probably benign	Het
D630045J12Rik	A	G	6: 38,171,696 (GRCm39)	I824T	probably benign	Het
Eno2	T	C	6: 124,739,922 (GRCm39)		probably benign	Het
Fam78b	C	A	1: 166,906,491 (GRCm39)	Q217K	probably damaging	Het
Fpgs	C	T	2: 32,577,513 (GRCm39)	C219Y	probably damaging	Het
Garem2	G	T	5: 30,318,344 (GRCm39)	V106L	possibly damaging	Het
Grk3	A	T	5: 113,094,543 (GRCm39)		probably null	Het
H3c2	A	T	13: 23,936,708 (GRCm39)		probably null	Het
Hint2	T	A	4: 43,654,919 (GRCm39)	Y70F	probably damaging	Het
Ipp	A	G	4: 116,372,274 (GRCm39)	N101S	probably benign	Het
Kcnj1	A	T	9: 32,305,414 (GRCm39)		probably benign	Het
Kcnk4	T	C	19: 6,910,129 (GRCm39)	D44G	probably benign	Het
Kif5c	T	C	2: 49,578,737 (GRCm39)	S122P	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Nipbl	T	A	15: 8,368,208 (GRCm39)	K1171N	probably damaging	Het
Or4k39	T	A	2: 111,239,653 (GRCm39)		noncoding transcript	Het
Pcf11	A	C	7: 92,307,225 (GRCm39)	L981R	probably damaging	Het
Pias2	T	A	18: 77,185,399 (GRCm39)	L153H	probably damaging	Het
Pkd1	T	C	17: 24,804,666 (GRCm39)	V3130A	probably damaging	Het
Plpp4	C	A	7: 128,858,813 (GRCm39)		probably benign	Het
Plxnd1	T	A	6: 115,970,937 (GRCm39)	H277L	probably damaging	Het
Pramel26	A	T	4: 143,538,143 (GRCm39)	V276E	possibly damaging	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Rd3l	C	A	12: 111,946,092 (GRCm39)	S63I	possibly damaging	Het
Scfd2	G	C	5: 74,558,368 (GRCm39)	A503G	possibly damaging	Het
Slco4a1	T	C	2: 180,114,455 (GRCm39)	V549A	probably benign	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Tnn	T	G	1: 159,943,650 (GRCm39)	E1054D	probably benign	Het
Tnrc6a	A	T	7: 122,751,405 (GRCm39)	K54*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpr	T	A	1: 150,279,712 (GRCm39)	D206E	probably benign	Het
Ugt2b34	A	T	5: 87,040,726 (GRCm39)	F399I	probably damaging	Het
Usp3	A	T	9: 66,425,776 (GRCm39)	D456E	probably benign	Het
Vmn1r60	T	A	7: 5,547,488 (GRCm39)	H204L	probably damaging	Het
Vmn2r97	G	T	17: 19,150,616 (GRCm39)	A488S	probably benign	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wdr86	T	C	5: 24,935,235 (GRCm39)	D36G	probably damaging	Het
Zc3h4	C	T	7: 16,163,036 (GRCm39)	P479S	unknown	Het
Zfhx4	A	T	3: 5,279,875 (GRCm39)		probably benign	Het
Zfp607b	T	A	7: 27,402,149 (GRCm39)	C202S	probably damaging	Het
Zfp882	T	A	8: 72,667,453 (GRCm39)	F93L	probably damaging	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
IGL02850:Pjvk	APN	2	76,488,795 (GRCm39)	missense	possibly damaging	0.85
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGACATGATAGTTAGTCATTGGC -3'
(R):5'- TGAGTAATGTCGAAACTTCCACC -3'

Sequencing Primer
(F):5'- ACATGATAGTTAGTCATTGGCTATGG -3'
(R):5'- GTAATGTCGAAACTTCCACCTCATG -3'

Posted On

2015-07-21