Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02312:Pdilt'

287829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdilt

Ensembl Gene

ENSMUSG00000030968

Gene Name

protein disulfide isomerase-like, testis expressed

Synonyms

PDILT, 1700007B13Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL02312

Quality Score

Status

Chromosome

Chromosomal Location

119486587-119523489 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119519667 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 53 (T53M)

Ref Sequence

ENSEMBL: ENSMUSP00000033267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033267] [ENSMUST00000207796]

Predicted Effect

probably benign
Transcript: ENSMUST00000033267
AA Change: T53M

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: T53M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	86	97	N/A	INTRINSIC
Pfam:Thioredoxin_6	177	362	6e-35	PFAM
Pfam:Thioredoxin	385	489	3.7e-16	PFAM
low complexity region	495	512	N/A	INTRINSIC
low complexity region	551	579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207796

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 has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility and abnormal sperm physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,927,297	V454E	probably damaging	Het
Atp7b	G	T	8: 21,994,770	Q1424K	probably damaging	Het
Bicra	T	C	7: 15,993,141	D30G	possibly damaging	Het
Cdhr2	A	G	13: 54,717,888	D233G	probably null	Het
Clint1	C	T	11: 45,894,056	T294M	probably damaging	Het
Cntnap5c	C	T	17: 58,138,699	T578I	probably benign	Het
Col12a1	G	T	9: 79,681,515	T1106N	probably damaging	Het
Dnah10	A	G	5: 124,819,366	Y3598C	probably damaging	Het
Dnaja3	A	G	16: 4,694,436	T235A	probably benign	Het
Eif2s1	T	C	12: 78,880,016	I180T	probably damaging	Het
Ergic1	C	A	17: 26,629,627	P108Q	probably damaging	Het
Fat2	T	A	11: 55,270,259	D3215V	probably damaging	Het
Galnt17	A	T	5: 131,306,533	I23N	probably benign	Het
Gm5416	A	G	16: 36,210,477		probably benign	Het
Gm8909	T	C	17: 36,165,407	I350V	probably benign	Het
Gpr20	C	T	15: 73,696,426	R38Q	probably benign	Het
Grin2b	T	C	6: 135,739,090	D743G	probably damaging	Het
Hmbs	A	G	9: 44,341,213		probably null	Het
Hunk	T	C	16: 90,475,941	Y302H	probably damaging	Het
Mybph	A	T	1: 134,197,450	I239F	probably damaging	Het
Ncoa3	G	A	2: 166,057,200	A821T	probably benign	Het
Nf1	A	G	11: 79,444,648	I979V	possibly damaging	Het
Olfr1137	T	C	2: 87,711,009	E299G	probably benign	Het
Olfr871	A	T	9: 20,213,081	H244L	probably damaging	Het
Papd4	C	T	13: 93,175,533	V220I	probably benign	Het
Pdlim1	T	C	19: 40,223,061	T263A	probably benign	Het
Pik3cg	A	T	12: 32,194,821	M878K	possibly damaging	Het
Plod1	T	C	4: 147,926,157	K279R	probably benign	Het
Plxna4	T	C	6: 32,165,117	T1602A	possibly damaging	Het
Rb1cc1	T	A	1: 6,265,623		probably null	Het
Rnls	G	A	19: 33,168,383	T112I	probably benign	Het
Ropn1	G	A	16: 34,677,277	V180I	probably benign	Het
Rptor	T	C	11: 119,846,915	Y605H	possibly damaging	Het
Sidt2	T	C	9: 45,947,001	Y80C	probably benign	Het
Slit1	A	T	19: 41,601,680	V1389E	possibly damaging	Het
Spz1	G	A	13: 92,575,885	P28S	probably benign	Het
Sult1c1	T	A	17: 53,962,430	M257L	probably benign	Het
Tm2d3	T	C	7: 65,699,169		probably null	Het
Uqcr10	T	C	11: 4,704,153		probably null	Het

Other mutations in Pdilt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Pdilt	APN	7	119500444	missense	probably damaging	1.00
IGL02102:Pdilt	APN	7	119486950	missense	probably benign	0.28
IGL02887:Pdilt	APN	7	119498049	missense	possibly damaging	0.86
R0670:Pdilt	UTSW	7	119500428	missense	probably benign	0.03
R0759:Pdilt	UTSW	7	119489484	nonsense	probably null
R1525:Pdilt	UTSW	7	119487994	missense	probably damaging	0.99
R1612:Pdilt	UTSW	7	119486975	missense	possibly damaging	0.95
R1633:Pdilt	UTSW	7	119487994	missense	probably damaging	1.00
R1848:Pdilt	UTSW	7	119489384	missense	probably benign	0.02
R3026:Pdilt	UTSW	7	119514954	missense	probably benign	0.01
R3546:Pdilt	UTSW	7	119500488	nonsense	probably null
R4406:Pdilt	UTSW	7	119495009	missense	probably damaging	1.00
R5331:Pdilt	UTSW	7	119514924	missense	possibly damaging	0.67
R5459:Pdilt	UTSW	7	119486935	missense	probably benign	0.01
R5771:Pdilt	UTSW	7	119494994	missense	probably damaging	0.98
R5807:Pdilt	UTSW	7	119500543	unclassified	probably benign
R6143:Pdilt	UTSW	7	119495042	missense	probably damaging	1.00
R6456:Pdilt	UTSW	7	119500483	missense	probably damaging	0.99
R6850:Pdilt	UTSW	7	119486959	missense	probably damaging	0.98
R7159:Pdilt	UTSW	7	119487951	missense	probably benign	0.01
R7676:Pdilt	UTSW	7	119494997	missense	probably damaging	1.00
R8266:Pdilt	UTSW	7	119489381	missense	probably benign	0.01
R8282:Pdilt	UTSW	7	119498070	missense	probably damaging	1.00
R8437:Pdilt	UTSW	7	119514886	missense	possibly damaging	0.95

Posted On

2015-04-16