Mutagenetix > Incidental Mutation

Incidental Mutation 'R7427:Pdia6'

576197

Institutional Source

Beutler Lab

Gene Symbol

Pdia6

Ensembl Gene

ENSMUSG00000020571

Gene Name

protein disulfide isomerase associated 6

Synonyms

Txndc7, CaBP5, P5, 1700015E05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7427 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17266545-17284770 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17278545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 167 (V167A)

Ref Sequence

ENSEMBL: ENSMUSP00000052912 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057288
AA Change: V167A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: V167A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	C	T	2: 23,256,994	R337C	probably benign	Het
Adck5	T	A	15: 76,594,385	C318S	possibly damaging	Het
Aspm	T	A	1: 139,457,616	C333S	probably benign	Het
B3gnt4	A	G	5: 123,510,731	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,225,122	M98I	probably benign	Het
Cacna2d3	A	G	14: 29,064,275	M585T	probably damaging	Het
Cbarp	T	C	10: 80,131,304	D701G	probably damaging	Het
Cntrl	T	A	2: 35,170,534	W1913R	probably benign	Het
Cry2	T	C	2: 92,413,047	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,023,850	F2044L	possibly damaging	Het
Ctgf	T	G	10: 24,597,499	M312R	probably damaging	Het
Cxcl16	A	G	11: 70,458,804	V78A	possibly damaging	Het
Cxcr6	A	T	9: 123,810,240	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,170,416	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,381,538	R154G	unknown	Het
Dnah9	T	C	11: 65,955,219	T2998A	probably benign	Het
Focad	T	C	4: 88,368,751	S1254P	unknown	Het
Gm21886	A	T	18: 80,089,652	L97Q	probably damaging	Het
Gm6614	T	G	6: 142,003,508		probably null	Het
Gpr158	A	C	2: 21,827,318	L1076F	probably benign	Het
Hivep2	T	C	10: 14,133,741	M1714T	possibly damaging	Het
Hlcs	A	G	16: 94,267,899	V154A	probably benign	Het
Hpdl	A	T	4: 116,820,865	L133Q	probably damaging	Het
Il1rn	C	A	2: 24,349,542	T150K	probably benign	Het
Il6st	A	G	13: 112,488,560	I237V	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Ism2	G	T	12: 87,286,995	T92K	possibly damaging	Het
Kif13b	T	C	14: 64,788,460	I1422T	probably benign	Het
Kit	G	A	5: 75,645,847	V671I	possibly damaging	Het
Klhdc8a	A	T	1: 132,302,967	N190I	probably damaging	Het
Lad1	C	T	1: 135,825,838	T41I	probably damaging	Het
Lrrc7	G	T	3: 158,198,141	T294K	probably benign	Het
Megf8	C	T	7: 25,338,371	R771C	probably benign	Het
Micu3	A	C	8: 40,378,914	N440T	possibly damaging	Het
Mnx1	T	C	5: 29,474,213	N291D	unknown	Het
Mthfr	A	G	4: 148,051,603	M378V	probably benign	Het
Mup2	A	T	4: 60,138,454	D79E	probably benign	Het
Myzap	T	C	9: 71,505,183	T451A	probably benign	Het
Nlrp9c	T	C	7: 26,371,435	D907G	probably benign	Het
Nr1h4	T	C	10: 89,498,405	E41G	probably benign	Het
Nup98	A	T	7: 102,135,001		probably null	Het
Nxpe5	A	C	5: 138,239,760	Y194S	probably damaging	Het
Olfr1024	T	A	2: 85,904,131	R308*	probably null	Het
Olfr1032	A	T	2: 86,008,219	I148L	probably benign	Het
Olfr105-ps	T	C	17: 37,383,299	V244A	probably damaging	Het
Olfr1121	G	T	2: 87,371,690	V53L	probably benign	Het
Olfr332	A	G	11: 58,489,780	I325T	probably benign	Het
Olfr466	A	G	13: 65,153,052	Y276C	probably damaging	Het
Olfr554	A	G	7: 102,640,326	I27V	probably benign	Het
Omd	A	T	13: 49,592,269	E385V	possibly damaging	Het
Pcdh9	G	T	14: 93,887,111	T541K	probably damaging	Het
Phf7	C	T	14: 31,240,413	R145Q	possibly damaging	Het
Pitx3	T	C	19: 46,137,424	D20G	possibly damaging	Het
Plxnb1	T	C	9: 109,108,168	V1139A	probably benign	Het
Pon2	A	T	6: 5,268,995	N226K	probably damaging	Het
Ppp1r10	T	A	17: 35,930,133	H642Q	possibly damaging	Het
Prom2	A	G	2: 127,539,811	L195P	probably damaging	Het
Psg23	C	T	7: 18,611,983		probably null	Het
Rfx4	C	A	10: 84,896,012	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,248,824	I15N	probably damaging	Het
Rhot2	A	T	17: 25,841,609	V233E	probably damaging	Het
Ripply2	T	C	9: 87,019,756	S112P	possibly damaging	Het
Slc12a1	C	A	2: 125,214,132	T861N	probably benign	Het
Slc35f1	T	A	10: 53,089,414	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,298,898	I427F	probably damaging	Het
Sned1	G	A	1: 93,289,358	V1322I	probably benign	Het
Sprr2f	G	A	3: 92,365,944	V17M	unknown	Het
Srd5a3	A	G	5: 76,154,643	H285R	probably benign	Het
Stab1	T	C	14: 31,159,259	T605A	probably benign	Het
Syne1	T	C	10: 5,273,718	Q3054R	probably damaging	Het
Tas1r1	T	C	4: 152,038,308	T27A	probably benign	Het
Tmem150b	A	T	7: 4,716,210	V237E	probably benign	Het
Trpv6	C	T	6: 41,625,153	M407I	probably benign	Het
Ttn	T	G	2: 76,720,354	D31528A	probably damaging	Het
Uroc1	A	T	6: 90,346,362	D354V	possibly damaging	Het
Vmn2r69	T	C	7: 85,411,259	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Zfp971	T	A	2: 178,033,174	C189S	probably damaging	Het

Other mutations in Pdia6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Pdia6	APN	12	17270541	splice site	probably benign
IGL01686:Pdia6	APN	12	17283957	unclassified	probably benign
IGL01978:Pdia6	APN	12	17274422	missense	possibly damaging	0.82
IGL02044:Pdia6	APN	12	17283226	missense	probably damaging	0.98
IGL02630:Pdia6	APN	12	17274421	missense	probably benign	0.45
IGL03102:Pdia6	APN	12	17281039	splice site	probably null
braum	UTSW	12	17270456	missense	probably damaging	1.00
R2126:Pdia6	UTSW	12	17278545	missense	probably damaging	1.00
R3037:Pdia6	UTSW	12	17279645	missense	probably damaging	1.00
R3768:Pdia6	UTSW	12	17270456	missense	probably damaging	1.00
R3769:Pdia6	UTSW	12	17270456	missense	probably damaging	1.00
R5639:Pdia6	UTSW	12	17278593	missense	probably benign
R6230:Pdia6	UTSW	12	17277213	missense	probably benign	0.08
R7305:Pdia6	UTSW	12	17274508	missense	probably benign	0.20
R7428:Pdia6	UTSW	12	17278545	missense	probably damaging	1.00
R8013:Pdia6	UTSW	12	17273965	missense	probably damaging	1.00
R8014:Pdia6	UTSW	12	17273965	missense	probably damaging	1.00
R8696:Pdia6	UTSW	12	17279661	missense	probably damaging	1.00
R8724:Pdia6	UTSW	12	17283981	missense	unknown
R9104:Pdia6	UTSW	12	17270491	missense	probably benign	0.45
R9509:Pdia6	UTSW	12	17280988	missense	probably damaging	0.99

Predicted Primers

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

Sequencing Primer
(F):5'- TCCAGTGCAATCCTGGTGAAC -3'
(R):5'- TACACTGTGGTAGCTTCACCAAAGG -3'

Posted On

2019-10-07