Mutagenetix > Incidental Mutation

Incidental Mutation 'R7772:Pjvk'

598619

Institutional Source

Beutler Lab

Gene Symbol

Pjvk

Ensembl Gene

ENSMUSG00000075267

Gene Name

pejvakin

Synonyms

LOC381375, pejvakin, Dfnb59

MMRRC Submission

045828-MU

Accession Numbers

Essential gene?

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

Stock #

R7772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76480617-76488898 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 76487877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097566 (fasta)

Gene Model

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

AlphaFold

Q0ZLH2

Predicted Effect

probably null
Transcript: ENSMUST00000099986

SMART Domains

Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267

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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,839,784 (GRCm39)		probably null	Het
Adora3	T	C	3: 105,815,039 (GRCm39)	V263A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Arfgef1	A	G	1: 10,227,235 (GRCm39)	V1368A	possibly damaging	Het
Arid4a	A	T	12: 71,108,363 (GRCm39)	N56I	possibly damaging	Het
Art3	A	T	5: 92,551,472 (GRCm39)	Y277F	probably damaging	Het
Atp2a1	A	T	7: 126,047,707 (GRCm39)		probably null	Het
Banf1	T	C	19: 5,415,150 (GRCm39)	K54E	possibly damaging	Het
Bckdk	A	G	7: 127,505,073 (GRCm39)	Y151C	probably damaging	Het
C1qtnf3	C	A	15: 10,958,130 (GRCm39)	P58T	possibly damaging	Het
Cadps2	T	C	6: 23,390,445 (GRCm39)	R744G	probably benign	Het
Cdc25b	A	G	2: 131,031,029 (GRCm39)	D118G	probably damaging	Het
Cnot9	G	A	1: 74,566,151 (GRCm39)	V181I	probably damaging	Het
Cobl	C	T	11: 12,204,488 (GRCm39)	G738D	probably benign	Het
Col18a1	T	A	10: 76,904,220 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,772,564 (GRCm39)	V171A	probably benign	Het
Dhx57	C	T	17: 80,580,507 (GRCm39)	D482N	possibly damaging	Het
Dpysl2	A	T	14: 67,066,425 (GRCm39)		probably null	Het
Drd3	G	T	16: 43,582,758 (GRCm39)	A52S	probably benign	Het
Dst	T	C	1: 34,220,469 (GRCm39)	V2091A	possibly damaging	Het
Evpl	T	C	11: 116,112,261 (GRCm39)	T1810A	probably benign	Het
Fbxo2	T	A	4: 148,248,783 (GRCm39)	W92R	probably damaging	Het
Gas2l2	T	A	11: 83,320,103 (GRCm39)	D51V	possibly damaging	Het
Gm11232	A	T	4: 71,674,818 (GRCm39)	V228E	possibly damaging	Het
Gm14305	C	T	2: 176,412,764 (GRCm39)	Q219*	probably null	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr39	G	T	1: 125,605,334 (GRCm39)	M87I	possibly damaging	Het
Heatr1	T	C	13: 12,432,522 (GRCm39)	M1089T	probably benign	Het
Ifi206	A	T	1: 173,308,640 (GRCm39)	M452K		Het
Ints8	A	T	4: 11,227,190 (GRCm39)	I561N	probably damaging	Het
Itgb2	A	T	10: 77,396,946 (GRCm39)	K660N	probably benign	Het
Jun	A	C	4: 94,939,081 (GRCm39)	V143G	probably benign	Het
Kalrn	A	G	16: 33,851,952 (GRCm39)	M2076T	probably benign	Het
Krt10	G	T	11: 99,279,913 (GRCm39)	S82R	unknown	Het
Lipm	T	A	19: 34,095,291 (GRCm39)	H295Q	probably damaging	Het
Mybpc2	A	C	7: 44,165,348 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,584,608 (GRCm39)	V103A	possibly damaging	Het
Nol10	T	C	12: 17,398,586 (GRCm39)	I11T	probably damaging	Het
Nup210l	A	G	3: 90,067,233 (GRCm39)	S758G	probably damaging	Het
Or13d1	T	A	4: 52,970,713 (GRCm39)	C31S	probably damaging	Het
Or52r1c	T	G	7: 102,735,388 (GRCm39)	I216S	probably benign	Het
Or8d4	T	C	9: 40,038,661 (GRCm39)	I199V	probably benign	Het
Osbpl9	T	C	4: 108,923,384 (GRCm39)	H425R	probably damaging	Het
Parp1	G	T	1: 180,416,963 (GRCm39)	R582S	possibly damaging	Het
Piwil1	A	T	5: 128,816,527 (GRCm39)	R36S	probably benign	Het
Plekha6	G	T	1: 133,097,760 (GRCm39)	E31D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Psmc6	T	A	14: 45,581,107 (GRCm39)	I301N	probably damaging	Het
Rfpl4	C	A	7: 5,118,543 (GRCm39)	S9I	probably benign	Het
Rnf14	G	T	18: 38,442,629 (GRCm39)	C310F	probably damaging	Het
Rnf17	T	A	14: 56,715,144 (GRCm39)	F845L	probably benign	Het
Robo2	T	C	16: 73,758,777 (GRCm39)	I665V	probably benign	Het
Rtl1	T	A	12: 109,559,619 (GRCm39)	H740L	probably damaging	Het
Ryr2	A	G	13: 11,765,897 (GRCm39)	S1280P	probably benign	Het
Slc12a8	G	A	16: 33,371,335 (GRCm39)	R126H	probably damaging	Het
Slc9a1	T	C	4: 133,139,276 (GRCm39)	F165L	probably damaging	Het
Snx19	T	C	9: 30,340,221 (GRCm39)	I453T	probably damaging	Het
Spag17	T	C	3: 99,987,434 (GRCm39)	Y1575H	probably damaging	Het
Spef2	T	C	15: 9,704,567 (GRCm39)	I415M	probably damaging	Het
Ssx2ip	T	G	3: 146,138,885 (GRCm39)	I459S	probably damaging	Het
Stfa1	A	G	16: 36,097,363 (GRCm39)		probably null	Het
Tmem156	A	T	5: 65,237,517 (GRCm39)	S48T	probably damaging	Het
Tmx3	T	A	18: 90,545,918 (GRCm39)		probably null	Het
Unc93a	A	T	17: 13,328,639 (GRCm39)	F405I	possibly damaging	Het
Vmn1r209	T	A	13: 22,990,664 (GRCm39)	I9F	possibly damaging	Het
Vmn2r93	A	G	17: 18,533,482 (GRCm39)	D462G	probably damaging	Het
Wdr90	T	A	17: 26,080,465 (GRCm39)		probably benign	Het
Zfp551	T	C	7: 12,152,535 (GRCm39)	D66G	probably damaging	Het
Znrf4	A	C	17: 56,819,247 (GRCm39)	V20G	possibly damaging	Het
Zscan4d	T	C	7: 10,896,770 (GRCm39)	E200G	probably benign	Het
Zup1	A	T	10: 33,797,698 (GRCm39)		probably null	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
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
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'- GAACTGCAGGCTTGAGAATTC -3'
(R):5'- TGCATTCCCAAATACCCTTCAG -3'

Sequencing Primer
(F):5'- CTGCAGGCTTGAGAATTCATATCAGC -3'
(R):5'- CTTGGGAATAGTTCTACCCAGGAC -3'

Posted On

2019-11-26