Mutagenetix > Incidental Mutation

Incidental Mutation 'R4620:Pxdc1'

345261

Institutional Source

Beutler Lab

Gene Symbol

Pxdc1

Ensembl Gene

ENSMUSG00000021411

Gene Name

PX domain containing 1

Synonyms

1300014I06Rik

MMRRC Submission

042008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34811823-34836664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34836297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 41 (I41T)

Ref Sequence

ENSEMBL: ENSMUSP00000051246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021847] [ENSMUST00000053459] [ENSMUST00000125037]

AlphaFold

Q8JZU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021847
AA Change: I41T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021847
Gene: ENSMUSG00000021411
AA Change: I41T

Domain	Start	End	E-Value	Type
Pfam:PX	23	130	3.5e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000053459
AA Change: I41T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051246
Gene: ENSMUSG00000021411
AA Change: I41T

Domain	Start	End	E-Value	Type
Pfam:PX	24	130	2.9e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125037
AA Change: I41T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117791
Gene: ENSMUSG00000021411
AA Change: I41T

Domain	Start	End	E-Value	Type
Blast:PX	22	114	9e-61	BLAST
SCOP:d1h6ha_	39	114	4e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154345

Meta Mutation Damage Score

0.3638

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,335 (GRCm39)	Y433*	probably null	Het
Apba2	C	T	7: 64,364,215 (GRCm39)	R331C	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
B3gnt5	A	T	16: 19,588,632 (GRCm39)	M284L	probably benign	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Blvra	T	C	2: 126,938,885 (GRCm39)	I287T	probably damaging	Het
Capn5	T	C	7: 97,778,578 (GRCm39)	Y347C	probably damaging	Het
Cdcp2	A	G	4: 106,963,927 (GRCm39)	E259G	probably damaging	Het
Cdh2	A	G	18: 16,781,665 (GRCm39)	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,184,943 (GRCm39)	I1169T	probably benign	Het
Cenpj	A	G	14: 56,772,911 (GRCm39)	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,805,619 (GRCm39)	H1497L	probably benign	Het
Chat	A	G	14: 32,175,775 (GRCm39)	M95T	probably damaging	Het
Csmd1	T	C	8: 16,052,694 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,449,149 (GRCm39)	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,701,006 (GRCm39)		probably null	Het
Dll1	C	T	17: 15,590,828 (GRCm39)	A332T	probably benign	Het
Dmrta1	A	T	4: 89,577,021 (GRCm39)	Q159L	probably benign	Het
Dnai3	A	T	3: 145,748,564 (GRCm39)	L850Q	probably damaging	Het
Eci3	A	T	13: 35,132,741 (GRCm39)	M212K	probably damaging	Het
Eml4	T	C	17: 83,768,962 (GRCm39)	F557L	probably benign	Het
Fat3	A	T	9: 15,908,190 (GRCm39)	V2604D	probably damaging	Het
Frem3	T	C	8: 81,395,586 (GRCm39)	V1871A	possibly damaging	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
H2-M3	C	A	17: 37,583,310 (GRCm39)	T257K	probably damaging	Het
Hdgf	A	G	3: 87,821,883 (GRCm39)	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,236,599 (GRCm39)	N226Y	probably damaging	Het
Itgav	T	C	2: 83,586,246 (GRCm39)	Y169H	probably benign	Het
Kalrn	T	G	16: 33,849,075 (GRCm39)	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kif6	T	C	17: 50,208,324 (GRCm39)	V735A	probably benign	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Megf8	G	A	7: 25,054,523 (GRCm39)	A1880T	possibly damaging	Het
Miox	A	T	15: 89,220,324 (GRCm39)	Y172F	probably benign	Het
Myo18a	G	A	11: 77,708,773 (GRCm39)	R48H	possibly damaging	Het
Ndufb7	T	C	8: 84,293,487 (GRCm39)	S14P	probably damaging	Het
Npepps	A	T	11: 97,129,070 (GRCm39)	H371Q	probably damaging	Het
Or10d5j	C	T	9: 39,868,205 (GRCm39)	V9M	probably damaging	Het
Or52e15	T	A	7: 104,645,830 (GRCm39)	I94F	probably damaging	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or8b12c	A	G	9: 37,716,115 (GRCm39)	T303A	probably benign	Het
Orc5	A	T	5: 22,734,174 (GRCm39)	D203E	probably damaging	Het
Pappa	A	G	4: 65,245,265 (GRCm39)	T1518A	probably benign	Het
Pde6a	A	G	18: 61,395,563 (GRCm39)	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,750,718 (GRCm39)	V136I	possibly damaging	Het
Postn	A	C	3: 54,284,414 (GRCm39)	D627A	probably damaging	Het
Prpf39	T	C	12: 65,089,337 (GRCm39)	V25A	probably benign	Het
Rab11fip1	T	A	8: 27,644,243 (GRCm39)	E514V	probably damaging	Het
Rag1	A	T	2: 101,474,025 (GRCm39)	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,057,968 (GRCm39)		probably benign	Het
Rexo5	A	G	7: 119,426,526 (GRCm39)	I317V	probably benign	Het
Rragc	A	G	4: 123,818,622 (GRCm39)	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,191,129 (GRCm39)	S187P	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Slfn5	G	A	11: 82,852,478 (GRCm39)	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,194,838 (GRCm39)	A722T	probably benign	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Sucnr1	A	G	3: 59,994,190 (GRCm39)	I239M	possibly damaging	Het
Themis2	A	G	4: 132,513,333 (GRCm39)	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,952 (GRCm39)	N37T	probably benign	Het
Tmem62	A	G	2: 120,826,845 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,941,853 (GRCm39)	M75I	probably benign	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698 (GRCm39)	G64E	probably damaging	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,054,011 (GRCm39)	F1603Y	probably damaging	Het
Xpo4	A	T	14: 57,867,782 (GRCm39)	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,662,178 (GRCm39)	Y792*	probably null	Het

Other mutations in Pxdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1301:Pxdc1	UTSW	13	34,812,870 (GRCm39)	missense	probably benign	0.22
R4825:Pxdc1	UTSW	13	34,814,343 (GRCm39)	missense	probably benign	0.08
R4943:Pxdc1	UTSW	13	34,822,989 (GRCm39)	critical splice donor site	probably null
R5677:Pxdc1	UTSW	13	34,836,178 (GRCm39)	missense	probably benign
R6798:Pxdc1	UTSW	13	34,836,408 (GRCm39)	missense	possibly damaging	0.93
R7414:Pxdc1	UTSW	13	34,821,135 (GRCm39)	intron	probably benign
R7542:Pxdc1	UTSW	13	34,822,146 (GRCm39)	critical splice donor site	probably null
R7685:Pxdc1	UTSW	13	34,836,267 (GRCm39)	missense	probably damaging	1.00
R7746:Pxdc1	UTSW	13	34,823,046 (GRCm39)	missense	probably benign
R7796:Pxdc1	UTSW	13	34,836,354 (GRCm39)	missense	probably damaging	1.00
R8175:Pxdc1	UTSW	13	34,812,798 (GRCm39)	missense	probably damaging	0.99
R9562:Pxdc1	UTSW	13	34,836,258 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGGATGAGCTCCTCACTAAGTTC -3'
(R):5'- TATAAAGCCGCAGCCCGTTC -3'

Sequencing Primer
(F):5'- GAGCTCCTCACTAAGTTCCTCCC -3'
(R):5'- GGACTCTTAACCGCCGTTG -3'

Posted On

2015-09-25