Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Pdilt'

638256

Institutional Source

Beutler Lab

Gene Symbol

Pdilt

Ensembl Gene

ENSMUSG00000030968

Gene Name

protein disulfide isomerase-like, testis expressed

Synonyms

PDILT, 1700007B13Rik

MMRRC Submission

067705-MU

Accession Numbers

Essential gene?

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

Stock #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119085810-119122712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119097293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 266 (I266T)

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: I266T

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

SMART Domains

Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: I266T

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 damaging
Transcript: ENSMUST00000208275
AA Change: I63T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	A	1: 165,337,906 (GRCm39)	D173E	probably benign	Het
Ahctf1	T	C	1: 179,605,371 (GRCm39)	D721G	possibly damaging	Het
Allc	T	C	12: 28,607,356 (GRCm39)	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,459,575 (GRCm39)		probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Brf2	G	T	8: 27,614,621 (GRCm39)	R30S		Het
Bsn	A	G	9: 107,984,890 (GRCm39)	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces1d	A	T	8: 93,912,740 (GRCm39)	S233T	possibly damaging	Het
Chst15	T	A	7: 131,871,879 (GRCm39)	H134L	probably benign	Het
Col14a1	A	G	15: 55,284,276 (GRCm39)	T846A	unknown	Het
Cwh43	A	T	5: 73,591,572 (GRCm39)	D555V	probably damaging	Het
Cyld	C	A	8: 89,432,043 (GRCm39)	P14T	probably benign	Het
Dctn1	G	A	6: 83,176,738 (GRCm39)	R1264H	possibly damaging	Het
Dkk3	T	A	7: 111,717,489 (GRCm39)	S327C	probably damaging	Het
Dnmbp	T	G	19: 43,879,005 (GRCm39)	H22P	unknown	Het
Duxf4	T	G	10: 58,072,148 (GRCm39)	Q22P	possibly damaging	Het
Fabp4	T	A	3: 10,270,342 (GRCm39)	T103S	probably benign	Het
Fam43a	T	C	16: 30,420,106 (GRCm39)	L230P	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fank1	T	A	7: 133,478,493 (GRCm39)	Y186N	probably damaging	Het
Fbxo8	G	A	8: 57,044,555 (GRCm39)	R286K	possibly damaging	Het
Fmnl2	G	A	2: 52,997,678 (GRCm39)		probably null	Het
Gli2	T	A	1: 118,765,701 (GRCm39)	S817C	probably damaging	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gstt2	C	G	10: 75,668,291 (GRCm39)	A155P	probably benign	Het
Ints9	T	A	14: 65,244,757 (GRCm39)	M213K	probably benign	Het
Jak1	G	A	4: 101,036,738 (GRCm39)	R301*	probably null	Het
Kdsr	T	C	1: 106,652,727 (GRCm39)	T302A	probably benign	Het
Khsrp	T	C	17: 57,331,123 (GRCm39)	E460G	probably damaging	Het
Larp1b	G	A	3: 40,991,245 (GRCm39)	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,324,560 (GRCm39)	K487R	probably damaging	Het
Niban2	A	G	2: 32,809,029 (GRCm39)	E205G	probably benign	Het
Nwd1	T	A	8: 73,431,580 (GRCm39)	S1193T	probably damaging	Het
Or10ag57	A	T	2: 87,218,852 (GRCm39)	T268S	probably benign	Het
Or5k3	T	A	16: 58,969,529 (GRCm39)	C105*	probably null	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,542,014 (GRCm39)	H636R	probably damaging	Het
Rell2	A	T	18: 38,090,665 (GRCm39)	Q114L	probably benign	Het
Rfc1	A	G	5: 65,426,289 (GRCm39)		probably null	Het
Rpia	T	C	6: 70,748,002 (GRCm39)	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably null	Het
Samd12	T	C	15: 53,723,645 (GRCm39)	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,006,005 (GRCm39)		probably null	Het
Slc6a3	T	A	13: 73,705,200 (GRCm39)	D230E	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Synpo2l	A	G	14: 20,711,204 (GRCm39)	V472A	probably benign	Het
Taf6l	A	G	19: 8,750,714 (GRCm39)	I120T	possibly damaging	Het
Tent5c	A	G	3: 100,380,327 (GRCm39)	V143A	probably damaging	Het
Trappc11	T	C	8: 47,969,624 (GRCm39)	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,029,523 (GRCm39)	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,402,440 (GRCm39)	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,449,601 (GRCm39)	Y212*	probably null	Het
Vps54	T	A	11: 21,250,464 (GRCm39)		probably benign	Het
Zfp268	A	T	4: 145,349,547 (GRCm39)	D328V	possibly damaging	Het
Zfp648	T	A	1: 154,080,535 (GRCm39)	H231Q	probably benign	Het
Zscan4d	T	A	7: 10,896,369 (GRCm39)	T334S	possibly damaging	Het
Zswim9	T	C	7: 12,995,536 (GRCm39)	M207V	probably benign	Het

Other mutations in Pdilt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Pdilt	APN	7	119,099,667 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTGATGCTGCTCTTGGAC -3'
(R):5'- AGCTACTGCCGTCTAACATGC -3'

Sequencing Primer
(F):5'- GCTCTTGGACGCCATTAAAG -3'
(R):5'- CCTCTGGCTCAAGGGAAAAATCG -3'

Posted On

2020-07-28