Mutagenetix > Incidental Mutation

Incidental Mutation 'R7159:Pdilt'

557506

Institutional Source

Beutler Lab

Gene Symbol

Pdilt

Ensembl Gene

ENSMUSG00000030968

Gene Name

protein disulfide isomerase-like, testis expressed

Synonyms

PDILT, 1700007B13Rik

MMRRC Submission

045259-MU

Accession Numbers

Essential gene?

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

Stock #

R7159 (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 119087174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 492 (V492A)

Ref Sequence

ENSEMBL: ENSMUSP00000033267 (fasta)

Gene Model

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

AlphaFold

Q9DAN1

Predicted Effect

probably benign
Transcript: ENSMUST00000033267
AA Change: V492A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: V492A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,380,327 (GRCm39)	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,575,970 (GRCm39)	S401P	probably benign	Het
Arfgef2	T	A	2: 166,668,848 (GRCm39)	D41E	probably benign	Het
Arid1a	T	C	4: 133,480,879 (GRCm39)	N15S	unknown	Het
Arsa	A	T	15: 89,358,921 (GRCm39)		probably null	Het
B3gnt9	C	A	8: 105,981,064 (GRCm39)	C108F	probably damaging	Het
Bbc3	C	A	7: 16,047,733 (GRCm39)	Y152*	probably null	Het
Btbd1	T	C	7: 81,467,957 (GRCm39)	M188V	probably benign	Het
Caln1	C	T	5: 130,851,838 (GRCm39)	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763 (GRCm39)	P266S	possibly damaging	Het
Ccm2l	A	T	2: 152,912,787 (GRCm39)	I109F	probably damaging	Het
Chst15	A	C	7: 131,871,987 (GRCm39)	L98R	probably damaging	Het
Ctsq	A	G	13: 61,186,737 (GRCm39)	M89T	probably benign	Het
Ddx39b	T	C	17: 35,465,986 (GRCm39)	V169A	probably benign	Het
Fhad1	T	C	4: 141,678,927 (GRCm39)	H583R	probably benign	Het
Fndc1	T	A	17: 8,019,763 (GRCm39)	I139F	probably damaging	Het
Gm7145	C	G	1: 117,913,561 (GRCm39)	H148D	probably benign	Het
Gpr62	C	A	9: 106,342,641 (GRCm39)	A96S	probably damaging	Het
Gsap	T	A	5: 21,475,618 (GRCm39)		probably null	Het
Hdhd5	T	A	6: 120,500,432 (GRCm39)	T89S	probably damaging	Het
Kcna5	T	A	6: 126,510,592 (GRCm39)	Y512F	probably damaging	Het
Krt84	C	A	15: 101,438,044 (GRCm39)	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrp6	C	A	6: 134,484,514 (GRCm39)	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,490,144 (GRCm39)	G167D	probably damaging	Het
Man2b1	C	T	8: 85,813,909 (GRCm39)	T291M	probably benign	Het
Mapkbp1	A	G	2: 119,855,613 (GRCm39)	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,183,438 (GRCm39)	T1947A	probably benign	Het
Myh15	A	T	16: 48,881,937 (GRCm39)	T60S	probably damaging	Het
Myo5a	A	T	9: 75,078,845 (GRCm39)	I868F	probably benign	Het
Myom3	A	T	4: 135,536,162 (GRCm39)	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677 (GRCm39)		probably null	Het
Ncam2	G	T	16: 81,287,262 (GRCm39)	S392I	probably damaging	Het
Nrg3	A	C	14: 38,092,692 (GRCm39)	L647*	probably null	Het
Or10j7	A	T	1: 173,011,890 (GRCm39)	L37Q	possibly damaging	Het
Or2t35	T	C	14: 14,407,251 (GRCm38)	S8P	possibly damaging	Het
Or2y1g	A	T	11: 49,171,185 (GRCm39)	D70V	probably damaging	Het
Or8j3c	T	A	2: 86,253,956 (GRCm39)		probably null	Het
Pcdhb9	A	G	18: 37,534,545 (GRCm39)	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,819,972 (GRCm39)	N507S	probably damaging	Het
Phf12	A	G	11: 77,914,366 (GRCm39)	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,254,928 (GRCm39)	I174F	probably benign	Het
Polq	A	T	16: 36,883,215 (GRCm39)	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 78,282,393 (GRCm39)	F97L	probably benign	Het
Prpsap1	T	C	11: 116,384,870 (GRCm39)	E13G	probably benign	Het
Ptpru	A	G	4: 131,546,851 (GRCm39)	L280P	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rc3h2	T	C	2: 37,299,659 (GRCm39)	S124G	probably benign	Het
Rdh5	A	G	10: 128,754,184 (GRCm39)	I83T	possibly damaging	Het
Rigi	A	G	4: 40,213,804 (GRCm39)	V618A	probably benign	Het
Ryr2	T	G	13: 11,825,794 (GRCm39)	R561S	probably damaging	Het
Scara3	A	G	14: 66,158,229 (GRCm39)	L593P	probably damaging	Het
Scfd2	T	C	5: 74,692,004 (GRCm39)	I93V	probably benign	Het
Sema4f	C	A	6: 82,894,864 (GRCm39)	V444L	possibly damaging	Het
Slco1a7	T	A	6: 141,719,504 (GRCm39)	M1L	probably damaging	Het
Spata33	T	C	8: 123,941,134 (GRCm39)	L61P	unknown	Het
Stard10	A	T	7: 100,992,343 (GRCm39)		probably null	Het
Stub1	T	C	17: 26,051,038 (GRCm39)	I115V	probably benign	Het
Tlcd3b	T	C	7: 126,426,667 (GRCm39)	F80S	probably damaging	Het
Tmem247	C	T	17: 87,225,710 (GRCm39)	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,771,223 (GRCm39)	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,466,526 (GRCm39)	Y245C	probably benign	Het
Trip13	T	C	13: 74,068,130 (GRCm39)	I284V	probably benign	Het
Trpm4	T	C	7: 44,976,692 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,740,092 (GRCm39)	L3528F	unknown	Het
Ttn	A	G	2: 76,560,918 (GRCm39)	L29161S	probably damaging	Het
Ube2v2	G	A	16: 15,398,948 (GRCm39)	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,302,733 (GRCm39)	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,236,829 (GRCm39)	F526Y	probably 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
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
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'- AGGCTGTATGCTACTTGAGAGTC -3'
(R):5'- TAGGTAGTTCGGAATCTGATGC -3'

Sequencing Primer
(F):5'- GTTCCCATAAAATAACCAGTGAGCTC -3'
(R):5'- CGGAATCTGATGCTGGGTTTAG -3'

Posted On

2019-06-26