Mutagenetix > Incidental Mutation

Incidental Mutation 'R8175:Pxdc1'

634306

Institutional Source

Beutler Lab

Gene Symbol

Pxdc1

Ensembl Gene

ENSMUSG00000021411

Gene Name

PX domain containing 1

Synonyms

1300014I06Rik

MMRRC Submission

067600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8175 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34811823-34836664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34812798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 218 (S218P)

Ref Sequence

ENSEMBL: ENSMUSP00000051246 (fasta)

Gene Model

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

AlphaFold

Q8JZU6

Predicted Effect

probably benign
Transcript: ENSMUST00000021847

SMART Domains

Protein: ENSMUSP00000021847
Gene: ENSMUSG00000021411

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053459
AA Change: S218P

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

SMART Domains

Protein: ENSMUSP00000051246
Gene: ENSMUSG00000021411
AA Change: S218P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125037

SMART Domains

Protein: ENSMUSP00000117791
Gene: ENSMUSG00000021411

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	C	T	9: 30,815,952 (GRCm39)	V635M	probably damaging	Het
Aim2	A	T	1: 173,282,920 (GRCm39)	M1L	possibly damaging	Het
Ank3	T	C	10: 69,729,339 (GRCm39)	V700A	unknown	Het
Arhgap10	T	C	8: 78,037,471 (GRCm39)	T586A	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef4	G	A	1: 34,849,455 (GRCm39)	V349I	probably benign	Het
Atp1a1	A	G	3: 101,492,170 (GRCm39)	F569L	possibly damaging	Het
Btbd10	T	A	7: 112,921,999 (GRCm39)		probably null	Het
Capza2	G	A	6: 17,665,381 (GRCm39)	D270N	probably benign	Het
Cobll1	T	C	2: 64,929,575 (GRCm39)	N584D	probably benign	Het
Coro1c	T	A	5: 113,988,876 (GRCm39)	I156F	probably benign	Het
Cpsf3	T	C	12: 21,350,178 (GRCm39)	I299T	probably benign	Het
Cse1l	T	A	2: 166,785,128 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,772,814 (GRCm39)	E527G	probably damaging	Het
Dcbld2	T	C	16: 58,253,710 (GRCm39)	L149S	possibly damaging	Het
Ecpas	C	T	4: 58,872,756 (GRCm39)	V182M	probably damaging	Het
Egflam	C	A	15: 7,241,633 (GRCm39)	W925L	probably damaging	Het
Ehmt2	A	G	17: 35,130,396 (GRCm39)	N1071D	probably damaging	Het
Eif3g	A	T	9: 20,809,026 (GRCm39)	S93T	probably damaging	Het
Eipr1	A	G	12: 28,913,106 (GRCm39)	E269G		Het
Eng	C	A	2: 32,568,934 (GRCm39)	T487K	possibly damaging	Het
Epb41l3	T	C	17: 69,517,361 (GRCm39)	Y130H	probably damaging	Het
F5	A	T	1: 164,019,834 (GRCm39)	R770*	probably null	Het
Fam227a	A	G	15: 79,524,861 (GRCm39)	F201S	probably damaging	Het
Fam50b	G	A	13: 34,930,847 (GRCm39)	E108K	probably benign	Het
Fcgbpl1	T	A	7: 27,863,873 (GRCm39)	C2548*	probably null	Het
Fn1	A	G	1: 71,638,824 (GRCm39)	I1971T	probably damaging	Het
Fsip2	T	A	2: 82,815,088 (GRCm39)	F3607Y	probably benign	Het
Fsip2	A	T	2: 82,818,021 (GRCm39)	I4585L	probably benign	Het
Gas1	T	C	13: 60,323,932 (GRCm39)	N275S		Het
Hus1b	A	G	13: 31,131,215 (GRCm39)	V148A	probably benign	Het
Ighmbp2	A	G	19: 3,316,365 (GRCm39)	L575P	possibly damaging	Het
Igsf21	A	T	4: 139,755,542 (GRCm39)	F371Y	probably damaging	Het
Itprid2	A	G	2: 79,488,496 (GRCm39)	R860G	probably damaging	Het
Jade1	G	T	3: 41,567,723 (GRCm39)	R597L	probably benign	Het
Krt4	A	G	15: 101,828,984 (GRCm39)		probably null	Het
Lap3	T	C	5: 45,666,833 (GRCm39)	S412P	probably benign	Het
Lifr	A	G	15: 7,216,496 (GRCm39)	T824A	probably damaging	Het
Megf6	T	A	4: 154,353,076 (GRCm39)	C1307*	probably null	Het
Ndufb10	A	T	17: 24,943,166 (GRCm39)	V48E	possibly damaging	Het
Nelfa	T	C	5: 34,079,357 (GRCm39)	K72R	possibly damaging	Het
Obscn	C	T	11: 58,886,786 (GRCm39)	V7767I	unknown	Het
Pptc7	T	A	5: 122,457,882 (GRCm39)	C284S	probably benign	Het
Rabep1	T	A	11: 70,775,755 (GRCm39)	W110R	probably damaging	Het
Ren1	T	C	1: 133,282,007 (GRCm39)	Y79H	possibly damaging	Het
Ripor3	T	C	2: 167,825,679 (GRCm39)	S760G	probably benign	Het
Setd1a	A	G	7: 127,395,415 (GRCm39)	E1327G	unknown	Het
Setd5	T	C	6: 113,091,874 (GRCm39)	W232R	probably damaging	Het
Slf1	A	T	13: 77,260,790 (GRCm39)	H171Q	probably damaging	Het
Smoc1	A	G	12: 81,214,440 (GRCm39)	D285G	probably damaging	Het
Taf10	T	C	7: 105,393,134 (GRCm39)	Y97C	probably damaging	Het
Tgfbr2	G	A	9: 115,939,023 (GRCm39)	S293L	possibly damaging	Het
Tmem181a	A	G	17: 6,346,075 (GRCm39)	I190V	probably benign	Het
Traf6	C	T	2: 101,521,825 (GRCm39)	T220I	possibly damaging	Het
Ube4b	T	C	4: 149,435,973 (GRCm39)	N716D	probably benign	Het
Unc5d	T	A	8: 29,334,855 (GRCm39)	K157N	probably damaging	Het
Usp19	G	A	9: 108,377,377 (GRCm39)	R1255H	probably damaging	Het
Vmn2r12	T	A	5: 109,238,349 (GRCm39)	I464F	probably damaging	Het
Zbtb20	A	T	16: 43,397,443 (GRCm39)		probably benign	Het
Zfp790	T	G	7: 29,529,205 (GRCm39)	L630R	possibly damaging	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
R4620:Pxdc1	UTSW	13	34,836,297 (GRCm39)	missense	probably damaging	0.98
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
R9562:Pxdc1	UTSW	13	34,836,258 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AATACCCAGGCCTGCTGAAC -3'
(R):5'- AAGGACCTTATCTCCTTAATGTCC -3'

Sequencing Primer
(F):5'- TGAACCTCAGGACCCTAGGAG -3'
(R):5'- GTCCCCTTCCATAGAACCTGGAG -3'

Posted On

2020-07-13