Mutagenetix > Incidental Mutation

Incidental Mutation 'R1525:Pdilt'

167786

Institutional Source

Beutler Lab

Gene Symbol

Pdilt

Ensembl Gene

ENSMUSG00000030968

Gene Name

protein disulfide isomerase-like, testis expressed

Synonyms

PDILT, 1700007B13Rik

MMRRC Submission

040872-MU

Accession Numbers

Essential gene?

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

Stock #

R1525 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119085810-119122712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119087217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 478 (T478S)

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: T478S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: T478S

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: ENSMUST00000208275

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,252,062 (GRCm39)	H840Q	probably benign	Het
Amotl2	C	T	9: 102,605,767 (GRCm39)	R540C	probably damaging	Het
Brpf1	A	G	6: 113,294,115 (GRCm39)	E605G	probably damaging	Het
Cacna2d3	T	C	14: 28,694,199 (GRCm39)	I865V	probably benign	Het
Cdh24	A	T	14: 54,876,046 (GRCm39)	F199I	probably damaging	Het
Cdk9	A	G	2: 32,600,521 (GRCm39)	V27A	probably damaging	Het
Cfap69	G	T	5: 5,690,230 (GRCm39)		probably null	Het
Cyp2d11	G	T	15: 82,273,498 (GRCm39)	L458I	probably damaging	Het
Dchs1	T	C	7: 105,408,138 (GRCm39)	E1898G	probably damaging	Het
Dennd4b	G	T	3: 90,178,177 (GRCm39)	L456F	probably damaging	Het
Dgat1	T	C	15: 76,395,786 (GRCm39)	T66A	probably benign	Het
Dock10	C	A	1: 80,583,881 (GRCm39)		probably null	Het
Fam110b	A	G	4: 5,799,578 (GRCm39)	D332G	possibly damaging	Het
Fem1al	A	C	11: 29,773,994 (GRCm39)	Y488D	probably benign	Het
Frmd4b	G	A	6: 97,273,347 (GRCm39)	P628S	probably damaging	Het
Ice1	A	T	13: 70,753,529 (GRCm39)	H852Q	probably benign	Het
Il17ra	T	C	6: 120,450,751 (GRCm39)	V116A	probably damaging	Het
Ints9	T	C	14: 65,232,460 (GRCm39)	I173T	probably benign	Het
Kctd14	A	T	7: 97,107,074 (GRCm39)	M110L	probably benign	Het
Krt6a	T	G	15: 101,602,637 (GRCm39)	Y16S	probably benign	Het
Lamc2	T	C	1: 153,006,502 (GRCm39)	N883S	probably benign	Het
Larp4b	C	T	13: 9,195,486 (GRCm39)	T195M	probably damaging	Het
Lrp1	A	G	10: 127,375,398 (GRCm39)	L4432P	probably damaging	Het
Mei4	T	C	9: 81,772,252 (GRCm39)	S22P	probably damaging	Het
Mep1a	T	C	17: 43,802,527 (GRCm39)	Q166R	probably damaging	Het
Mroh2b	C	A	15: 4,980,612 (GRCm39)		probably null	Het
Myoc	T	G	1: 162,476,220 (GRCm39)	L308R	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Or1j21	A	T	2: 36,684,155 (GRCm39)	R302S	probably null	Het
Or2t6	T	A	14: 14,175,725 (GRCm38)	Y119F	probably damaging	Het
Or4c101	C	G	2: 88,389,985 (GRCm39)	S57R	probably damaging	Het
Pias1	T	C	9: 62,827,769 (GRCm39)	K222E	probably damaging	Het
Prss16	A	C	13: 22,193,613 (GRCm39)	L61V	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Pvr	G	A	7: 19,644,551 (GRCm39)	Q328*	probably null	Het
Ranbp3	A	G	17: 57,017,865 (GRCm39)	D481G	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr3	G	T	2: 112,508,435 (GRCm39)	D3419E	probably damaging	Het
Scn1a	C	T	2: 66,149,806 (GRCm39)	W946*	probably null	Het
Sh3pxd2a	T	C	19: 47,266,864 (GRCm39)	K242E	probably damaging	Het
Slc34a2	A	G	5: 53,226,848 (GRCm39)	D657G	probably benign	Het
Stard9	T	A	2: 120,532,533 (GRCm39)	I2930K	probably benign	Het
Syna	T	C	5: 134,588,112 (GRCm39)	D279G	probably benign	Het
Tfr2	T	C	5: 137,577,292 (GRCm39)	F415L	probably benign	Het
Tmem97	T	A	11: 78,433,586 (GRCm39)	Y103F	probably damaging	Het
Tmem97	A	T	11: 78,433,587 (GRCm39)	Y103N	probably damaging	Het
Txndc2	T	A	17: 65,945,310 (GRCm39)	D289V	probably damaging	Het
Zbtb1	T	G	12: 76,433,206 (GRCm39)	D397E	probably benign	Het
Zc3h18	T	C	8: 123,140,677 (GRCm39)	S847P	probably benign	Het
Zfp382	G	A	7: 29,833,144 (GRCm39)	G265E	probably damaging	Het
Zfp410	T	C	12: 84,369,740 (GRCm39)	L39S	probably damaging	Het
Zfp729a	G	T	13: 67,767,440 (GRCm39)	P930T	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
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

Predicted Primers

PCR Primer
(F):5'- ACCATCTCAGGAATGTGACAAGCG -3'
(R):5'- GCCATGAGGGTATGTAATCCAGCC -3'

Sequencing Primer
(F):5'- AGCTCACTCAAAGTAGATGGC -3'
(R):5'- tcatgtcccctgatgagagag -3'

Posted On

2014-04-13