Mutagenetix > Incidental Mutations

Incidental Mutation 'R7148:Pjvk'

553924

Institutional Source

Beutler Lab

Gene Symbol

Pjvk

Ensembl Gene

ENSMUSG00000075267

Gene Name

pejvakin

Synonyms

pejvakin, Dfnb59, LOC381375

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76648476-76658556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76658487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 334 (K334R)

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: K334R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: K334R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,388,312	Y14F	probably damaging	Het
2410131K14Rik	A	G	5: 118,255,694	N46D	probably benign	Het
4930563D23Rik	T	C	16: 92,320,987	K138E	probably benign	Het
Acly	A	G	11: 100,483,782	V805A	possibly damaging	Het
AF366264	T	A	8: 13,837,996	I32L	probably benign	Het
Apcdd1	T	C	18: 62,951,845	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,465,930	F127I	probably benign	Het
Ccdc129	T	C	6: 55,897,686	I207T	probably damaging	Het
Ccdc138	T	C	10: 58,538,280	L374P	probably damaging	Het
Ces2b	A	G	8: 104,838,296	Y504C	probably damaging	Het
Ces5a	C	T	8: 93,502,322	G427S	probably damaging	Het
Chd1l	C	T	3: 97,591,316	V256M	probably damaging	Het
Col24a1	C	T	3: 145,315,299	T477M	probably damaging	Het
Dmbt1	T	A	7: 131,066,734	C573*	probably null	Het
Emcn	A	T	3: 137,417,094	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,071,144	M1R	probably null	Het
Fam83h	C	A	15: 76,005,167	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,755,675	K664E	probably benign	Het
Fzd9	A	G	5: 135,249,690	V447A	probably benign	Het
Gm21964	G	T	8: 110,109,416	R119I	probably benign	Het
Heatr5b	T	C	17: 78,831,434	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,686,854	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,902	L258Q	probably damaging	Het
Kmo	T	A	1: 175,651,602	C235S	probably damaging	Het
Lamc2	G	A	1: 153,185,984	P2S	probably benign	Het
Lman2	G	A	13: 55,352,949	P146S	probably benign	Het
Mars2	T	C	1: 55,237,514	I92T	probably damaging	Het
Msh3	A	G	13: 92,354,822	F27L	probably benign	Het
Myom2	T	C	8: 15,084,577	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,295,107	*214R	probably null	Het
Nsd2	T	C	5: 33,885,511	F1040L	possibly damaging	Het
Olfr374	T	A	8: 72,110,157	I197N	possibly damaging	Het
Osm	T	A	11: 4,239,936	I240N	probably benign	Het
Pard3b	T	A	1: 62,440,032	D884E	probably benign	Het
Pex5	T	G	6: 124,405,272	D150A	probably benign	Het
Pfkfb4	T	C	9: 109,027,608	V394A	probably damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Prpf4b	T	G	13: 34,894,472	N688K	probably benign	Het
R3hcc1	T	C	14: 69,705,552	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,719,119	G207*	probably null	Het
Rhobtb3	G	T	13: 75,910,887	T264K	probably benign	Het
Rpl27	A	G	11: 101,442,406		probably benign	Het
Rxfp3	C	T	15: 11,036,777	V170I	possibly damaging	Het
Samd4	T	A	14: 47,016,683	S201R	probably benign	Het
Sell	A	G	1: 164,065,607	I131V	possibly damaging	Het
Sirpb1c	A	T	3: 15,833,059	Y205*	probably null	Het
Smc3	A	T	19: 53,641,895	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,479,355	V185L	probably benign	Het
Spata4	A	C	8: 54,602,550	I159L	probably benign	Het
Tekt2	A	G	4: 126,322,381	I373T	probably benign	Het
Tomm20l	T	C	12: 71,117,539	V65A	probably benign	Het
Trabd2b	A	G	4: 114,409,350	D187G	probably damaging	Het
Trrap	A	G	5: 144,821,803	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,008	C440*	probably null	Het
Ube3b	A	C	5: 114,406,252	N570T	probably damaging	Het
Uevld	A	G	7: 46,950,976	I70T	probably damaging	Het
Usp10	C	T	8: 119,936,550	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,713,022	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,765,216	V601A	probably benign	Het
Wdr81	G	C	11: 75,446,002	N401K		Het
Ythdc2	G	T	18: 44,833,122	V142F	probably benign	Het
Zfp346	T	C	13: 55,105,450	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,542,239	V301M	possibly damaging	Het
Zim1	T	C	7: 6,678,221	K148E	possibly damaging	Het

Other mutations in Pjvk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Pjvk	APN	2	76657539	unclassified	probably benign
IGL01805:Pjvk	APN	2	76657514	missense	probably benign	0.11
IGL01821:Pjvk	APN	2	76655915	missense	probably damaging	0.96
IGL02850:Pjvk	APN	2	76658451	missense	possibly damaging	0.85
R1757:Pjvk	UTSW	2	76655888	missense	probably benign
R1851:Pjvk	UTSW	2	76657431	critical splice acceptor site	probably null
R2152:Pjvk	UTSW	2	76658369	missense	probably benign	0.10
R2265:Pjvk	UTSW	2	76657453	missense	possibly damaging	0.84
R4439:Pjvk	UTSW	2	76651406	missense	probably damaging	1.00
R5207:Pjvk	UTSW	2	76650390	critical splice acceptor site	probably null
R5381:Pjvk	UTSW	2	76651560	splice site	probably null
R5819:Pjvk	UTSW	2	76658369	missense	probably benign
R6165:Pjvk	UTSW	2	76650218	splice site	probably null
R7559:Pjvk	UTSW	2	76655810	missense	probably benign	0.07
R7573:Pjvk	UTSW	2	76657465	missense	probably benign	0.03
R7772:Pjvk	UTSW	2	76657533	critical splice donor site	probably null
R8475:Pjvk	UTSW	2	76650557	missense	probably benign
X0026:Pjvk	UTSW	2	76650534	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCTTTACCTGGACGACCTC -3'
(R):5'- GAACATAGTAGACATGCGCCATC -3'

Sequencing Primer
(F):5'- TGGACGACCTCTTTTCTGAC -3'
(R):5'- GTAGCACATAAAACGCGC -3'

Posted On

2019-05-15