Mutagenetix > Incidental Mutation

Incidental Mutation 'R6165:Pjvk'

501896

Institutional Source

Beutler Lab

Gene Symbol

Pjvk

Ensembl Gene

ENSMUSG00000075267

Gene Name

pejvakin

Synonyms

LOC381375, pejvakin, Dfnb59

MMRRC Submission

044311-MU

Accession Numbers

Essential gene?

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

Stock #

R6165 (G1)

Quality Score

159.009

Status

Validated

Chromosome

Chromosomal Location

76480617-76488898 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 76480562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 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 null
Transcript: ENSMUST00000144817

SMART Domains

Protein: ENSMUSP00000119264
Gene: ENSMUSG00000075267

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

Predicted Effect

probably null
Transcript: ENSMUST00000153471

SMART Domains

Protein: ENSMUSP00000114409
Gene: ENSMUSG00000075267

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.1%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,590,623 (GRCm39)	E303G	possibly damaging	Het
Atosa	A	G	9: 74,932,954 (GRCm39)	T974A	probably damaging	Het
C2cd5	T	C	6: 142,995,954 (GRCm39)	T389A	possibly damaging	Het
Catsperb	T	A	12: 101,542,075 (GRCm39)	Y592N	possibly damaging	Het
Cfap91	A	G	16: 38,154,173 (GRCm39)	F124S	possibly damaging	Het
Cnot9	T	C	1: 74,567,952 (GRCm39)	V280A	probably benign	Het
Cyld	A	G	8: 89,473,561 (GRCm39)	I927V	possibly damaging	Het
Etfdh	A	T	3: 79,512,251 (GRCm39)	S490T	probably benign	Het
Fance	C	T	17: 28,545,068 (GRCm39)	R150C	probably benign	Het
Far1	A	G	7: 113,153,425 (GRCm39)	K353E	probably benign	Het
Fbn1	T	C	2: 125,174,283 (GRCm39)	I1858V	probably damaging	Het
Frem1	T	C	4: 82,874,492 (GRCm39)	K1359E	probably benign	Het
Ghdc	T	G	11: 100,659,928 (GRCm39)	E273A	possibly damaging	Het
Gpt	A	G	15: 76,582,170 (GRCm39)	D209G	probably benign	Het
Hspb7	T	C	4: 141,149,862 (GRCm39)	F83L	probably benign	Het
Itga7	A	G	10: 128,778,804 (GRCm39)	I306M	probably benign	Het
Itgb5	A	G	16: 33,719,612 (GRCm39)	E261G	probably benign	Het
Kcnj14	G	T	7: 45,469,424 (GRCm39)	A27E	possibly damaging	Het
Kif13b	A	G	14: 64,979,760 (GRCm39)	H470R	probably damaging	Het
Macroh2a1	A	T	13: 56,252,268 (GRCm39)	N108K	probably damaging	Het
Morc3	T	C	16: 93,638,271 (GRCm39)	F18L	probably damaging	Het
Mrgprb8	T	A	7: 48,038,565 (GRCm39)	C79S	possibly damaging	Het
Mroh2b	T	A	15: 4,947,832 (GRCm39)	M549K	probably benign	Het
Msl1	T	C	11: 98,695,673 (GRCm39)	V563A	probably damaging	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or5b124	A	T	19: 13,610,507 (GRCm39)	I11F	possibly damaging	Het
Or5b124	C	T	19: 13,610,952 (GRCm39)	A159V	probably benign	Het
Phf2	C	A	13: 48,967,341 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,150,739 (GRCm39)	T66A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rtkn	G	T	6: 83,122,944 (GRCm39)	E67D	probably damaging	Het
Serpinb9	T	A	13: 33,192,807 (GRCm39)	F121L	possibly damaging	Het
Slc34a1	G	A	13: 23,999,053 (GRCm39)	V149I	probably benign	Het
Sobp	A	G	10: 42,898,599 (GRCm39)	S329P	probably damaging	Het
Syne1	A	T	10: 5,375,678 (GRCm39)	L138Q	probably damaging	Het
Tfr2	T	A	5: 137,578,519 (GRCm39)	V449D	probably damaging	Het
Tmem151b	T	C	17: 45,856,711 (GRCm39)	Y243C	probably damaging	Het
Trank1	T	C	9: 111,220,940 (GRCm39)	V2559A	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Uso1	A	T	5: 92,335,126 (GRCm39)	L495F	probably damaging	Het
Wdr24	A	G	17: 26,045,395 (GRCm39)	I377V	probably benign	Het
Xpo5	T	A	17: 46,546,883 (GRCm39)	V878D	possibly damaging	Het
Zfc3h1	A	G	10: 115,256,574 (GRCm39)	I1515V	probably benign	Het
Zfp319	CA	C	8: 96,054,733 (GRCm39)	489	probably null	Het
Zfp384	T	G	6: 125,001,896 (GRCm39)		probably null	Het
Zfp704	G	T	3: 9,508,946 (GRCm39)	P416T	probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	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
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'- CTGCAGATCATATCCAGGCC -3'
(R):5'- TGTCATCAACTGCGACCCTC -3'

Sequencing Primer
(F):5'- GGCCTAATGTTAGATTAGAGCCCAC -3'
(R):5'- TCAGGCAACGAACCCATTTTTG -3'

Posted On

2017-12-04