Mutagenetix > Incidental Mutation

Incidental Mutation 'R5639:Pdia6'

440561

Institutional Source

Beutler Lab

Gene Symbol

Pdia6

Ensembl Gene

ENSMUSG00000020571

Gene Name

protein disulfide isomerase associated 6

Synonyms

CaBP5, Txndc7, 1700015E05Rik, P5

MMRRC Submission

043288-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5639 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17316590-17334786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17328594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 183 (E183G)

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
AA Change: E183G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: E183G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163000

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,769,866 (GRCm39)	Y322H	probably benign	Het
Aldh1a1	C	A	19: 20,600,786 (GRCm39)	T201K	probably damaging	Het
Ankrd26	T	C	6: 118,516,685 (GRCm39)	E493G	possibly damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Bicc1	A	T	10: 70,776,350 (GRCm39)	V701E	probably damaging	Het
Car11	T	A	7: 45,352,045 (GRCm39)		probably null	Het
Ccn1	A	C	3: 145,354,452 (GRCm39)	V153G	probably damaging	Het
Celsr1	C	G	15: 85,914,968 (GRCm39)	V1002L	probably damaging	Het
Clpx	T	A	9: 65,237,112 (GRCm39)	S597T	probably benign	Het
Cplx3	A	T	9: 57,519,149 (GRCm39)	F266I	probably benign	Het
Dmpk	A	G	7: 18,826,525 (GRCm39)	M545V	probably benign	Het
Dnah7c	C	G	1: 46,778,828 (GRCm39)	D3139E	probably benign	Het
Drd5	T	A	5: 38,477,178 (GRCm39)	V57D	possibly damaging	Het
Epc2	A	G	2: 49,341,903 (GRCm39)	N29S	possibly damaging	Het
Ercc3	T	C	18: 32,398,767 (GRCm39)	V682A	probably damaging	Het
Fam186a	T	C	15: 99,844,931 (GRCm39)	K438E	unknown	Het
Farp1	T	A	14: 121,512,794 (GRCm39)	I764N	probably damaging	Het
Flvcr2	A	T	12: 85,794,250 (GRCm39)	I209F	probably benign	Het
Fndc3b	C	T	3: 27,480,302 (GRCm39)	V1065M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gp6	C	A	7: 4,397,130 (GRCm39)	D102Y	probably damaging	Het
Gpc5	T	C	14: 115,330,179 (GRCm39)	L114P	probably benign	Het
Kcnq3	T	A	15: 65,869,599 (GRCm39)	E613V	probably damaging	Het
Krt74	T	G	15: 101,665,195 (GRCm39)		noncoding transcript	Het
Lipe	T	C	7: 25,082,750 (GRCm39)	T801A	probably benign	Het
Lrp1	A	G	10: 127,429,708 (GRCm39)	V454A	probably damaging	Het
Lsm14a	T	C	7: 34,052,935 (GRCm39)	D338G	probably damaging	Het
Mctp1	T	C	13: 77,172,902 (GRCm39)		silent	Het
Nlrp4a	G	A	7: 26,156,455 (GRCm39)	A727T	probably benign	Het
Nrgn	T	C	9: 37,457,344 (GRCm39)	S48G	probably benign	Het
Oga	A	G	19: 45,765,438 (GRCm39)	I123T	probably damaging	Het
Or10k2	T	C	8: 84,267,973 (GRCm39)	S67P	probably damaging	Het
Or4a73	T	C	2: 89,421,069 (GRCm39)	Y130C	probably damaging	Het
Or51f23	A	G	7: 102,453,200 (GRCm39)	S172G	probably benign	Het
Pign	T	A	1: 105,517,040 (GRCm39)	I529F	probably benign	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Samm50	T	G	15: 84,098,329 (GRCm39)	I456S	probably benign	Het
Sesn1	A	G	10: 41,687,267 (GRCm39)	R84G	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Spag17	G	T	3: 99,963,482 (GRCm39)	D1067Y	probably damaging	Het
Sptan1	C	T	2: 29,881,005 (GRCm39)	Q425*	probably null	Het
Srrm4	T	A	5: 116,729,418 (GRCm39)	I36F	unknown	Het
Tas1r2	A	T	4: 139,387,107 (GRCm39)	S189C	probably damaging	Het
Tep1	A	G	14: 51,091,062 (GRCm39)	V690A	possibly damaging	Het
Trmo	T	C	4: 46,382,073 (GRCm39)	K348R	probably benign	Het
Trmu	T	A	15: 85,766,899 (GRCm39)	M36K	probably damaging	Het
Ubr4	A	G	4: 139,179,959 (GRCm39)	T3380A	possibly damaging	Het
Unc79	A	C	12: 103,137,831 (GRCm39)	T2425P	probably damaging	Het
Vmn2r12	G	A	5: 109,240,666 (GRCm39)	T149I	probably benign	Het
Vwa3a	A	C	7: 120,389,366 (GRCm39)	K68T	probably damaging	Het
Yif1a	T	C	19: 5,138,778 (GRCm39)		probably null	Het
Zbtb44	A	T	9: 30,965,348 (GRCm39)	T253S	probably damaging	Het
Zdhhc3	T	C	9: 122,929,410 (GRCm39)	Y75C	probably damaging	Het
Zfp189	T	A	4: 49,530,153 (GRCm39)	F419I	probably benign	Het
Zfp663	T	C	2: 165,194,929 (GRCm39)	D430G	probably benign	Het
Zfp709	T	G	8: 72,643,835 (GRCm39)		probably null	Het

Other mutations in Pdia6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Pdia6	APN	12	17,320,542 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAATCCTGGTGAACGATGATTTTC -3'
(R):5'- TGCACAGCCTAATCCCTGTC -3'

Sequencing Primer
(F):5'- CCTGGTGAACGATGATTTTCATTTG -3'
(R):5'- GCACAGCCTAATCCCTGTCTTATG -3'

Posted On

2016-11-08