Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02002:Pdilt'

183093

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

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

119085810-119122712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119099667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 200 (F200L)

Ref Sequence

ENSEMBL: ENSMUSP00000033267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033267] [ENSMUST00000208275]

AlphaFold

Q9DAN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000033267
AA Change: F200L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: F200L

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

noncoding transcript
Transcript: ENSMUST00000194930

Predicted Effect

probably benign
Transcript: ENSMUST00000208275

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	T	17: 84,989,479 (GRCm39)	Y76*	probably null	Het
Acadsb	T	A	7: 131,030,258 (GRCm39)	V135E	probably damaging	Het
Acap1	A	G	11: 69,775,286 (GRCm39)	Y326H	probably damaging	Het
Actl11	T	A	9: 107,806,529 (GRCm39)	V284D	probably benign	Het
Adcy10	G	T	1: 165,349,412 (GRCm39)	D428Y	probably damaging	Het
Akap8	A	G	17: 32,528,470 (GRCm39)	C481R	probably damaging	Het
Amotl2	G	A	9: 102,602,316 (GRCm39)	A26T	probably damaging	Het
Apob	T	C	12: 8,044,822 (GRCm39)	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391 (GRCm39)	N148K	probably damaging	Het
Ccdc149	G	A	5: 52,563,421 (GRCm39)	T124M	probably damaging	Het
Cd320	A	G	17: 34,062,214 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,638,194 (GRCm39)	T23A	probably benign	Het
Col22a1	A	G	15: 71,682,946 (GRCm39)		probably benign	Het
Col24a1	T	A	3: 145,062,699 (GRCm39)	F675I	possibly damaging	Het
Col6a3	A	G	1: 90,709,858 (GRCm39)		probably benign	Het
Dap3	A	T	3: 88,843,535 (GRCm39)	M19K	probably benign	Het
Dsg2	A	G	18: 20,712,233 (GRCm39)	D123G	probably damaging	Het
Dysf	T	A	6: 84,187,769 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,119,885 (GRCm39)	S853P	probably damaging	Het
Fbn2	A	G	18: 58,247,625 (GRCm39)	M423T	probably benign	Het
Fcgbpl1	A	T	7: 27,852,221 (GRCm39)	Y1248F	probably damaging	Het
Fgfr1	T	C	8: 26,045,727 (GRCm39)	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,244,661 (GRCm39)	A203T	probably damaging	Het
Gon4l	C	T	3: 88,802,643 (GRCm39)	P1085S	possibly damaging	Het
Gsdma2	T	C	11: 98,541,800 (GRCm39)	F176L	probably damaging	Het
Haghl	A	G	17: 26,003,239 (GRCm39)	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,491,049 (GRCm39)	P4167S	probably damaging	Het
Hscb	T	C	5: 110,978,820 (GRCm39)	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,802,666 (GRCm39)	N428Y	probably damaging	Het
Mc2r	T	A	18: 68,540,505 (GRCm39)	M263L	probably benign	Het
Metap1	T	A	3: 138,168,150 (GRCm39)	T325S	probably damaging	Het
Mff	A	G	1: 82,719,696 (GRCm39)	R225G	probably damaging	Het
Naprt	A	T	15: 75,763,221 (GRCm39)	L474Q	probably damaging	Het
Nin	A	T	12: 70,109,473 (GRCm39)	Y155*	probably null	Het
Nrg3	A	T	14: 38,092,724 (GRCm39)	C612*	probably null	Het
Or2aj5	T	C	16: 19,425,300 (GRCm39)	I39M	possibly damaging	Het
Or5p52	A	T	7: 107,502,497 (GRCm39)	D191V	possibly damaging	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Ppard	T	G	17: 28,517,877 (GRCm39)	F315C	probably damaging	Het
Ror1	T	A	4: 100,298,381 (GRCm39)	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,211,460 (GRCm39)	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,097,922 (GRCm39)	K442R	probably benign	Het
Tln2	A	G	9: 67,263,980 (GRCm39)	I553T	probably damaging	Het
Tmem269	T	A	4: 119,071,338 (GRCm39)	I26F	probably benign	Het
Tsen2	T	C	6: 115,536,568 (GRCm39)	V108A	probably benign	Het
Ttyh3	A	T	5: 140,615,238 (GRCm39)	D383E	probably damaging	Het
Tut7	A	G	13: 59,929,910 (GRCm39)	S1042P	possibly damaging	Het
Usp13	T	C	3: 32,901,974 (GRCm39)	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,899,619 (GRCm39)	S762R	probably damaging	Het
Washc4	A	G	10: 83,415,407 (GRCm39)	N799S	possibly damaging	Het
Zdhhc17	C	T	10: 110,803,550 (GRCm39)	V256I	probably benign	Het
Zfp51	T	A	17: 21,684,221 (GRCm39)	F279I	probably damaging	Het
Zzz3	A	G	3: 152,157,006 (GRCm39)	T223A	probably damaging	Het

Other mutations in Pdilt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02102:Pdilt	APN	7	119,086,173 (GRCm39)	missense	probably benign	0.28
IGL02312:Pdilt	APN	7	119,118,890 (GRCm39)	missense	probably benign	0.03
IGL02887:Pdilt	APN	7	119,097,272 (GRCm39)	missense	possibly damaging	0.86
R0670:Pdilt	UTSW	7	119,099,651 (GRCm39)	missense	probably benign	0.03
R0759:Pdilt	UTSW	7	119,088,707 (GRCm39)	nonsense	probably null
R1525:Pdilt	UTSW	7	119,087,217 (GRCm39)	missense	probably damaging	0.99
R1612:Pdilt	UTSW	7	119,086,198 (GRCm39)	missense	possibly damaging	0.95
R1633:Pdilt	UTSW	7	119,087,217 (GRCm39)	missense	probably damaging	1.00
R1848:Pdilt	UTSW	7	119,088,607 (GRCm39)	missense	probably benign	0.02
R3026:Pdilt	UTSW	7	119,114,177 (GRCm39)	missense	probably benign	0.01
R3546:Pdilt	UTSW	7	119,099,711 (GRCm39)	nonsense	probably null
R4406:Pdilt	UTSW	7	119,094,232 (GRCm39)	missense	probably damaging	1.00
R5331:Pdilt	UTSW	7	119,114,147 (GRCm39)	missense	possibly damaging	0.67
R5459:Pdilt	UTSW	7	119,086,158 (GRCm39)	missense	probably benign	0.01
R5771:Pdilt	UTSW	7	119,094,217 (GRCm39)	missense	probably damaging	0.98
R5807:Pdilt	UTSW	7	119,099,766 (GRCm39)	unclassified	probably benign
R6143:Pdilt	UTSW	7	119,094,265 (GRCm39)	missense	probably damaging	1.00
R6456:Pdilt	UTSW	7	119,099,706 (GRCm39)	missense	probably damaging	0.99
R6850:Pdilt	UTSW	7	119,086,182 (GRCm39)	missense	probably damaging	0.98
R7159:Pdilt	UTSW	7	119,087,174 (GRCm39)	missense	probably benign	0.01
R7676:Pdilt	UTSW	7	119,094,220 (GRCm39)	missense	probably damaging	1.00
R8266:Pdilt	UTSW	7	119,088,604 (GRCm39)	missense	probably benign	0.01
R8282:Pdilt	UTSW	7	119,097,293 (GRCm39)	missense	probably damaging	1.00
R8437:Pdilt	UTSW	7	119,114,109 (GRCm39)	missense	possibly damaging	0.95
R8951:Pdilt	UTSW	7	119,099,611 (GRCm39)	missense	possibly damaging	0.82
R9581:Pdilt	UTSW	7	119,099,633 (GRCm39)	missense	probably damaging	0.96
R9588:Pdilt	UTSW	7	119,100,870 (GRCm39)	missense	probably benign
R9672:Pdilt	UTSW	7	119,100,824 (GRCm39)	missense	possibly damaging	0.95

Posted On

2014-05-07