Mutagenetix > Incidental Mutation

Incidental Mutation 'R7115:Pxylp1'

551732

Institutional Source

Beutler Lab

Gene Symbol

Pxylp1

Ensembl Gene

ENSMUSG00000043587

Gene Name

2-phosphoxylose phosphatase 1

Synonyms

9430094M07Rik, Acpl2, C130099A20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96823336-96892669 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96825010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 373 (T373I)

Ref Sequence

ENSEMBL: ENSMUSP00000077571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078478] [ENSMUST00000112951] [ENSMUST00000119141] [ENSMUST00000120101] [ENSMUST00000121077] [ENSMUST00000126411]

AlphaFold

Q8BHA9

Predicted Effect

probably benign
Transcript: ENSMUST00000078478
AA Change: T373I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000077571
Gene: ENSMUSG00000043587
AA Change: T373I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
Pfam:His_Phos_2	87	424	1.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112951
AA Change: T373I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108574
Gene: ENSMUSG00000043587
AA Change: T373I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
Pfam:His_Phos_2	87	424	2.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119141
AA Change: T373I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113489
Gene: ENSMUSG00000043587
AA Change: T373I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
Pfam:His_Phos_2	87	424	2.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120101
AA Change: T373I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113210
Gene: ENSMUSG00000043587
AA Change: T373I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
Pfam:His_Phos_2	87	424	2.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121077

SMART Domains

Protein: ENSMUSP00000113059
Gene: ENSMUSG00000043587

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
Pfam:His_Phos_2	87	180	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126411

SMART Domains

Protein: ENSMUSP00000121537
Gene: ENSMUSG00000043587

Domain	Start	End	E-Value	Type
Pfam:His_Phos_2	10	160	5e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,437,725	I636N	probably benign	Het
Adam5	A	G	8: 24,781,696	I565T	possibly damaging	Het
Amd2	C	A	10: 35,711,637		probably benign	Het
Ap5m1	T	A	14: 49,086,270	Y472*	probably null	Het
Apcdd1	T	C	18: 62,936,953	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,380,876	K267R		Het
BC067074	T	G	13: 113,320,776	S1119A		Het
Carf	G	T	1: 60,148,150	L637F	probably damaging	Het
Ccdc103	A	T	11: 102,883,810	S95C	possibly damaging	Het
Cfap20	T	C	8: 95,421,246	I156V	probably benign	Het
Csn1s2a	T	C	5: 87,781,805	C96R	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dennd2a	G	A	6: 39,506,711	T405M	probably damaging	Het
Dennd5a	A	G	7: 109,894,754	Y1248H	probably damaging	Het
Dnah14	A	T	1: 181,720,145	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,243,662	G275D		Het
Elf3	T	G	1: 135,257,118	D110A	probably damaging	Het
Eomes	A	G	9: 118,484,489	N534S	probably benign	Het
Fry	A	T	5: 150,386,067	R659W	probably damaging	Het
Gm10428	G	A	11: 62,753,380	C94Y	unknown	Het
Gm2696	T	A	10: 77,836,299	C111S	unknown	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Lrp1b	T	A	2: 40,998,235	N2338Y		Het
Map2k1	A	G	9: 64,212,606	I139T	probably damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,707	Y79C	probably benign	Het
Ranbp9	T	C	13: 43,406,671	N484S	probably benign	Het
Rassf5	A	G	1: 131,181,249	V293A	probably benign	Het
Ring1	A	G	17: 34,023,446	I29T	probably damaging	Het
Scn1a	G	A	2: 66,324,618	Q666*	probably null	Het
Spice1	G	A	16: 44,379,275	G697R	probably benign	Het
Tas2r131	A	G	6: 132,957,604	F81L	probably benign	Het
Tenm2	G	A	11: 36,163,817	S572L	probably damaging	Het
Tfr2	A	G	5: 137,571,715	T128A	probably benign	Het
Trim56	T	A	5: 137,113,660	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,367,528	R840*	probably null	Het

Other mutations in Pxylp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02315:Pxylp1	APN	9	96839143	missense	probably damaging	1.00
IGL03031:Pxylp1	APN	9	96825142	missense	probably benign	0.33
R4665:Pxylp1	UTSW	9	96825285	missense	probably damaging	0.99
R5064:Pxylp1	UTSW	9	96854800	intron	probably benign
R5749:Pxylp1	UTSW	9	96856371	missense	possibly damaging	0.85
R5943:Pxylp1	UTSW	9	96839150	missense	probably damaging	1.00
R5950:Pxylp1	UTSW	9	96839126	missense	probably damaging	1.00
R6104:Pxylp1	UTSW	9	96824747	missense	possibly damaging	0.80
R6334:Pxylp1	UTSW	9	96825254	missense	probably damaging	0.99
R7057:Pxylp1	UTSW	9	96825050	missense	probably benign	0.01
R7475:Pxylp1	UTSW	9	96856367	critical splice donor site	probably null
R8258:Pxylp1	UTSW	9	96825580	missense	probably benign	0.01
R8259:Pxylp1	UTSW	9	96825580	missense	probably benign	0.01
R8307:Pxylp1	UTSW	9	96839084	critical splice donor site	probably null
R8967:Pxylp1	UTSW	9	96825271	missense	probably damaging	1.00
R9215:Pxylp1	UTSW	9	96825058	missense	possibly damaging	0.91
R9290:Pxylp1	UTSW	9	96840036	missense	probably damaging	0.99
Z1176:Pxylp1	UTSW	9	96824956	missense	probably damaging	1.00
Z1177:Pxylp1	UTSW	9	96824936	frame shift	probably null
Z1177:Pxylp1	UTSW	9	96824937	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTCAAGAGGACACATAGGCTTGG -3'
(R):5'- GCATGGAGCACTTCAAGGTG -3'

Sequencing Primer
(F):5'- AGAGCGCTTGTGGAAGTC -3'
(R):5'- GCACTTCAAGGTGATCAAGACGC -3'

Posted On

2019-05-15