Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Pdilt'

488674

Institutional Source

Beutler Lab

Gene Symbol

Pdilt

Ensembl Gene

ENSMUSG00000030968

Gene Name

protein disulfide isomerase-like, testis expressed

Synonyms

PDILT, 1700007B13Rik

MMRRC Submission

044290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R6143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119085810-119122712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119094265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 329 (N329Y)

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: N329Y

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

SMART Domains

Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: N329Y

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	G	14: 55,797,736 (GRCm39)		probably benign	Het
Abcd2	A	T	15: 91,075,150 (GRCm39)	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,614,606 (GRCm39)	K853*	probably null	Het
Art2a	T	C	7: 101,204,430 (GRCm39)	D36G	possibly damaging	Het
Atp13a1	C	T	8: 70,258,010 (GRCm39)	P922S	probably benign	Het
Brwd1	C	T	16: 95,804,156 (GRCm39)	G2005R	probably benign	Het
Bzw2	A	T	12: 36,170,725 (GRCm39)	M133K	probably benign	Het
Cacna1s	T	G	1: 136,004,496 (GRCm39)	S346A	probably damaging	Het
Cebpb	C	A	2: 167,531,220 (GRCm39)	D93E	probably benign	Het
Cep162	C	A	9: 87,094,904 (GRCm39)		probably null	Het
Col9a2	A	T	4: 120,911,060 (GRCm39)	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,826,202 (GRCm39)	N372I	probably damaging	Het
Csmd1	T	C	8: 16,138,315 (GRCm39)	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,144,792 (GRCm39)	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,504,977 (GRCm39)	R28W	probably benign	Het
Dbndd2	C	A	2: 164,330,206 (GRCm39)	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,377 (GRCm39)	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990 (GRCm39)	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,838,430 (GRCm39)	E211G	probably benign	Het
Dnpep	G	A	1: 75,291,872 (GRCm39)	H214Y	probably damaging	Het
Drc3	G	A	11: 60,261,406 (GRCm39)	V186M	possibly damaging	Het
Dvl3	A	G	16: 20,345,789 (GRCm39)	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,863,614 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,506 (GRCm39)	D181E	probably damaging	Het
Enthd1	T	C	15: 80,393,487 (GRCm39)	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,892,372 (GRCm39)	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,603,389 (GRCm39)	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,410 (GRCm39)	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,400,404 (GRCm39)	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,802,238 (GRCm39)	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,786,666 (GRCm39)		probably null	Het
Irgm2	A	T	11: 58,111,435 (GRCm39)	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,664,040 (GRCm39)	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,990,391 (GRCm39)	N43K	probably damaging	Het
Mme	T	G	3: 63,207,532 (GRCm39)		probably null	Het
Mrps31	T	G	8: 22,901,539 (GRCm39)	S20A	probably benign	Het
Myo5c	A	G	9: 75,157,091 (GRCm39)	R176G	probably damaging	Het
Naf1	T	C	8: 67,330,347 (GRCm39)	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,290,466 (GRCm39)	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,248,206 (GRCm39)		probably null	Het
Neurod4	T	G	10: 130,106,869 (GRCm39)	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,799,974 (GRCm39)	N396I	probably damaging	Het
Nvl	T	G	1: 180,962,560 (GRCm39)	T137P	probably benign	Het
Or5p59	A	G	7: 107,703,335 (GRCm39)	D273G	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,950,653 (GRCm39)	S690T	possibly damaging	Het
Pck1	A	T	2: 172,995,805 (GRCm39)	D101V	probably damaging	Het
Pfkl	T	A	10: 77,825,447 (GRCm39)	R648W	probably damaging	Het
Prtn3	T	A	10: 79,716,382 (GRCm39)	I63N	probably damaging	Het
Psg22	C	T	7: 18,456,723 (GRCm39)	A163V	probably benign	Het
Pten	A	G	19: 32,777,485 (GRCm39)	T160A	possibly damaging	Het
Retreg2	A	G	1: 75,123,530 (GRCm39)	D449G	probably damaging	Het
Scn9a	T	C	2: 66,317,868 (GRCm39)	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,841,174 (GRCm39)	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,004,060 (GRCm39)	V14I	probably benign	Het
Snai2	A	T	16: 14,526,107 (GRCm39)	R253*	probably null	Het
Speg	G	A	1: 75,391,031 (GRCm39)	V1512I	probably damaging	Het
Srsf1	G	A	11: 87,940,425 (GRCm39)		probably benign	Het
Tctn3	G	T	19: 40,597,671 (GRCm39)	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,687,558 (GRCm39)	I117L	probably benign	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Vmn2r118	G	T	17: 55,899,871 (GRCm39)	L678I	possibly damaging	Het
Vps13b	T	C	15: 35,668,884 (GRCm39)	S1594P	probably damaging	Het
Vps13d	G	T	4: 144,875,135 (GRCm39)	H1791N	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTGTAGCTGGACTGTAAGGC -3'
(R):5'- TCATGGGTACAGGAGTGAGC -3'

Sequencing Primer
(F):5'- ACTGTAAGGCGGTCCTCAG -3'
(R):5'- CCTGGGGGTGCTCCTTAATC -3'

Posted On

2017-10-10