Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01313:Pdia6'

73769

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdia6

Ensembl Gene

ENSMUSG00000020571

Gene Name

protein disulfide isomerase associated 6

Synonyms

CaBP5, Txndc7, 1700015E05Rik, P5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01313

Quality Score

Status

Chromosome

Chromosomal Location

17316590-17334786 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 17320542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000052912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057288]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057288

SMART Domains

Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	31	134	5.6e-32	PFAM
low complexity region	143	159	N/A	INTRINSIC
Pfam:Thioredoxin	166	272	7.4e-33	PFAM
low complexity region	427	445	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162936

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,621,969 (GRCm39)		probably null	Het
Abca7	T	A	10: 79,838,957 (GRCm39)		probably benign	Het
Acvr1c	T	G	2: 58,205,986 (GRCm39)	Q41H	probably benign	Het
Apob	A	T	12: 8,050,898 (GRCm39)	N1041Y	probably damaging	Het
Asb5	A	T	8: 55,038,798 (GRCm39)		probably benign	Het
Asxl3	A	T	18: 22,650,516 (GRCm39)	E835V	probably benign	Het
Ccdc73	A	T	2: 104,737,972 (GRCm39)	M23L	probably benign	Het
Cep170b	G	A	12: 112,702,086 (GRCm39)	R293H	probably damaging	Het
Chd8	C	A	14: 52,448,032 (GRCm39)	L316F	probably damaging	Het
Cldn13	T	C	5: 134,944,114 (GRCm39)	S24G	possibly damaging	Het
Cnot10	A	T	9: 114,460,923 (GRCm39)	N82K	probably benign	Het
Colec10	G	A	15: 54,323,157 (GRCm39)	V127M	probably damaging	Het
Cyp2d40	T	C	15: 82,645,478 (GRCm39)	S130G	unknown	Het
Ddx60	T	A	8: 62,435,560 (GRCm39)	H904Q	probably damaging	Het
Dnaaf11	A	T	15: 66,252,362 (GRCm39)	S435T	probably benign	Het
Dnajc2	T	C	5: 21,979,974 (GRCm39)	N177S	possibly damaging	Het
F5	G	T	1: 164,021,181 (GRCm39)	V1219L	probably benign	Het
Fam47c	G	T	X: 77,781,454 (GRCm39)	R12L	probably damaging	Het
Fat4	T	C	3: 39,061,350 (GRCm39)	I4311T	possibly damaging	Het
Fbf1	A	G	11: 116,041,907 (GRCm39)	V545A	probably benign	Het
Fhod3	G	A	18: 25,153,777 (GRCm39)	E420K	probably damaging	Het
Ikzf2	T	C	1: 69,578,589 (GRCm39)	K162E	probably damaging	Het
Insl6	C	A	19: 29,298,953 (GRCm39)	S153I	possibly damaging	Het
Kcnh8	A	G	17: 53,141,708 (GRCm39)	Y317C	probably damaging	Het
Lzts1	C	A	8: 69,591,759 (GRCm39)	V130L	probably benign	Het
Mill1	T	C	7: 17,998,558 (GRCm39)	I256T	possibly damaging	Het
Mycbpap	A	C	11: 94,400,145 (GRCm39)		probably null	Het
Or6c65	A	G	10: 129,603,464 (GRCm39)	Y33C	probably damaging	Het
Pik3c2b	C	T	1: 132,999,369 (GRCm39)	Q406*	probably null	Het
Pkhd1	C	A	1: 20,271,248 (GRCm39)	G3102C	probably damaging	Het
Polr3b	T	A	10: 84,561,607 (GRCm39)	I1122N	probably damaging	Het
Ryr2	T	A	13: 11,653,371 (GRCm39)		probably null	Het
Samhd1	A	G	2: 156,958,321 (GRCm39)	I300T	probably damaging	Het
Skint5	T	A	4: 113,662,361 (GRCm39)	I609F	unknown	Het
Slc27a3	G	T	3: 90,293,861 (GRCm39)	T541K	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Sv2c	C	T	13: 96,224,797 (GRCm39)	V171M	probably damaging	Het
Tenm2	A	G	11: 35,915,075 (GRCm39)	V2154A	probably damaging	Het
Thoc1	A	T	18: 9,987,158 (GRCm39)	I433F	probably benign	Het
Thoc2	A	T	X: 40,916,223 (GRCm39)	V865D	probably benign	Het
Trdn	C	A	10: 33,076,216 (GRCm39)	P282Q	probably damaging	Het
Twsg1	C	A	17: 66,255,699 (GRCm39)	C25F	probably damaging	Het
Usp34	T	A	11: 23,423,206 (GRCm39)	I3155N	probably damaging	Het
Vmn2r106	T	A	17: 20,498,651 (GRCm39)	Q420L	probably damaging	Het
Vmn2r109	C	T	17: 20,770,419 (GRCm39)	R523K	probably damaging	Het

Other mutations in Pdia6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Pdia6	APN	12	17,333,958 (GRCm39)	unclassified	probably benign
IGL01978:Pdia6	APN	12	17,324,423 (GRCm39)	missense	possibly damaging	0.82
IGL02044:Pdia6	APN	12	17,333,227 (GRCm39)	missense	probably damaging	0.98
IGL02630:Pdia6	APN	12	17,324,422 (GRCm39)	missense	probably benign	0.45
IGL03102:Pdia6	APN	12	17,331,040 (GRCm39)	splice site	probably null
braum	UTSW	12	17,320,457 (GRCm39)	missense	probably damaging	1.00
R2126:Pdia6	UTSW	12	17,328,546 (GRCm39)	missense	probably damaging	1.00
R3037:Pdia6	UTSW	12	17,329,646 (GRCm39)	missense	probably damaging	1.00
R3768:Pdia6	UTSW	12	17,320,457 (GRCm39)	missense	probably damaging	1.00
R3769:Pdia6	UTSW	12	17,320,457 (GRCm39)	missense	probably damaging	1.00
R5639:Pdia6	UTSW	12	17,328,594 (GRCm39)	missense	probably benign
R6230:Pdia6	UTSW	12	17,327,214 (GRCm39)	missense	probably benign	0.08
R7305:Pdia6	UTSW	12	17,324,509 (GRCm39)	missense	probably benign	0.20
R7427:Pdia6	UTSW	12	17,328,546 (GRCm39)	missense	probably damaging	1.00
R7428:Pdia6	UTSW	12	17,328,546 (GRCm39)	missense	probably damaging	1.00
R8013:Pdia6	UTSW	12	17,323,966 (GRCm39)	missense	probably damaging	1.00
R8014:Pdia6	UTSW	12	17,323,966 (GRCm39)	missense	probably damaging	1.00
R8696:Pdia6	UTSW	12	17,329,662 (GRCm39)	missense	probably damaging	1.00
R8724:Pdia6	UTSW	12	17,333,982 (GRCm39)	missense	unknown
R9104:Pdia6	UTSW	12	17,320,492 (GRCm39)	missense	probably benign	0.45
R9509:Pdia6	UTSW	12	17,330,989 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-10-07