Mutagenetix > Incidental Mutation

Incidental Mutation 'R7057:Pxylp1'

547992

Institutional Source

Beutler Lab

Gene Symbol

Pxylp1

Ensembl Gene

ENSMUSG00000043587

Gene Name

2-phosphoxylose phosphatase 1

Synonyms

Acpl2, C130099A20Rik, 9430094M07Rik

MMRRC Submission

045154-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96705389-96774722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96707103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 360 (M360L)

Ref Sequence

ENSEMBL: ENSMUSP00000113210 (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: M360L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000077571
Gene: ENSMUSG00000043587
AA Change: M360L

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: M360L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108574
Gene: ENSMUSG00000043587
AA Change: M360L

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: M360L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113489
Gene: ENSMUSG00000043587
AA Change: M360L

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: M360L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113210
Gene: ENSMUSG00000043587
AA Change: M360L

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,181 (GRCm39)	V220D	probably benign	Het
Ankrd1	T	C	19: 36,095,633 (GRCm39)	E113G	possibly damaging	Het
Aqp12	T	C	1: 92,939,718 (GRCm39)	L249P	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,296 (GRCm39)	F15S	possibly damaging	Het
Bub1	T	A	2: 127,671,447 (GRCm39)	M46L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2cd4d	A	G	3: 94,270,800 (GRCm39)	H22R	probably benign	Het
Ccdc157	A	G	11: 4,094,586 (GRCm39)	V480A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,952 (GRCm39)		probably benign	Het
Cela1	T	A	15: 100,580,774 (GRCm39)	T161S	possibly damaging	Het
Chtf18	G	T	17: 25,940,100 (GRCm39)	A697E	possibly damaging	Het
Cr2	T	C	1: 194,833,918 (GRCm39)	D957G	possibly damaging	Het
Cyp2c40	A	G	19: 39,796,063 (GRCm39)	V60A	probably damaging	Het
Dazl	CCATGATGGCGGC	CC	17: 50,600,434 (GRCm39)		probably null	Het
Dock2	A	T	11: 34,177,684 (GRCm39)	L1824Q	probably benign	Het
Dock2	T	C	11: 34,586,044 (GRCm39)	Y546C	probably benign	Het
Focad	G	A	4: 88,192,342 (GRCm39)	C557Y	unknown	Het
Ftmt	T	A	18: 52,465,180 (GRCm39)	N165K	probably benign	Het
Gen1	A	C	12: 11,292,419 (GRCm39)	S457A	probably benign	Het
Gja1	T	G	10: 56,264,129 (GRCm39)	S163A	probably benign	Het
Gm8267	T	C	14: 44,959,481 (GRCm39)	I194M	probably damaging	Het
Golga3	T	A	5: 110,336,529 (GRCm39)	S389R	probably damaging	Het
Gpc5	C	A	14: 115,370,654 (GRCm39)	Q87K	possibly damaging	Het
Hmcn2	G	A	2: 31,312,661 (GRCm39)	A3420T	probably damaging	Het
Htt	A	G	5: 34,979,067 (GRCm39)	S817G	probably null	Het
Hus1b	C	T	13: 31,131,533 (GRCm39)	C42Y	possibly damaging	Het
Iars2	A	G	1: 185,021,564 (GRCm39)	F913L	probably benign	Het
Kcna4	A	G	2: 107,125,665 (GRCm39)	E133G	probably damaging	Het
Klhl36	T	C	8: 120,603,536 (GRCm39)	L597P	probably benign	Het
Ltv1	T	C	10: 13,056,646 (GRCm39)	E299G	possibly damaging	Het
Mmp12	A	G	9: 7,357,840 (GRCm39)	Y348C	probably damaging	Het
Mmp12	G	A	9: 7,369,173 (GRCm39)	V270I	probably benign	Het
Mmp2	A	G	8: 93,558,333 (GRCm39)	D134G	probably damaging	Het
Mrpl15	A	T	1: 4,846,865 (GRCm39)	M237K	probably benign	Het
Ms4a6b	G	T	19: 11,504,253 (GRCm39)	V177F	possibly damaging	Het
Muc16	A	G	9: 18,557,375 (GRCm39)	S2973P	unknown	Het
Or1e30	A	C	11: 73,677,974 (GRCm39)	D70A	possibly damaging	Het
Or4c114	A	C	2: 88,904,808 (GRCm39)	I209S	possibly damaging	Het
Or5b120	G	T	19: 13,480,243 (GRCm39)	D179Y	probably damaging	Het
Or5b12b	A	T	19: 12,862,006 (GRCm39)	I254F	probably damaging	Het
Or8b48	A	T	9: 38,493,050 (GRCm39)	H159L	probably damaging	Het
Pikfyve	T	A	1: 65,286,364 (GRCm39)	I1201K	probably benign	Het
Plekhn1	T	G	4: 156,318,374 (GRCm39)	M83L	probably damaging	Het
Pnlip	G	T	19: 58,664,695 (GRCm39)	D212Y	probably damaging	Het
Pomt2	T	C	12: 87,174,152 (GRCm39)	N417S	probably damaging	Het
Rbak	G	A	5: 143,159,682 (GRCm39)	T457I	possibly damaging	Het
Runx2	A	T	17: 45,125,424 (GRCm39)	W31R	probably null	Het
Sec16a	T	A	2: 26,315,277 (GRCm39)	I1795F	probably damaging	Het
Sik2	A	T	9: 50,909,861 (GRCm39)	I64N	probably damaging	Het
Slc26a8	T	C	17: 28,857,371 (GRCm39)	E924G	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc45a4	C	A	15: 73,459,487 (GRCm39)	D174Y	probably damaging	Het
Slc6a6	A	C	6: 91,718,248 (GRCm39)	E354A	probably damaging	Het
Slc8a1	A	T	17: 81,956,524 (GRCm39)	S171R	probably damaging	Het
Srgap1	T	C	10: 121,640,858 (GRCm39)	I669M	probably benign	Het
Stk39	C	A	2: 68,240,471 (GRCm39)	A87S	possibly damaging	Het
Tasor	A	T	14: 27,183,608 (GRCm39)	N689I	probably damaging	Het
Tbx18	C	A	9: 87,587,317 (GRCm39)	S600I	possibly damaging	Het
Tesc	A	C	5: 118,193,025 (GRCm39)	K114Q	probably damaging	Het
Tll1	T	C	8: 64,554,915 (GRCm39)	D256G	probably damaging	Het
Tmem35b	T	A	4: 127,021,679 (GRCm39)	I45K	probably benign	Het
Tnks	T	C	8: 35,307,168 (GRCm39)	D1127G	probably damaging	Het
Trpm8	A	T	1: 88,289,802 (GRCm39)	D920V	probably null	Het
U2af1	A	T	17: 31,867,831 (GRCm39)	D79E	probably benign	Het
Zfp704	T	C	3: 9,535,977 (GRCm39)	D331G	probably damaging	Het
Znrf3	G	T	11: 5,232,442 (GRCm39)	P261Q	probably benign	Het
Zscan4b	A	T	7: 10,635,636 (GRCm39)	C202*	probably null	Het

Other mutations in Pxylp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02315:Pxylp1	APN	9	96,721,196 (GRCm39)	missense	probably damaging	1.00
IGL03031:Pxylp1	APN	9	96,707,195 (GRCm39)	missense	probably benign	0.33
R4665:Pxylp1	UTSW	9	96,707,338 (GRCm39)	missense	probably damaging	0.99
R5064:Pxylp1	UTSW	9	96,736,853 (GRCm39)	intron	probably benign
R5749:Pxylp1	UTSW	9	96,738,424 (GRCm39)	missense	possibly damaging	0.85
R5943:Pxylp1	UTSW	9	96,721,203 (GRCm39)	missense	probably damaging	1.00
R5950:Pxylp1	UTSW	9	96,721,179 (GRCm39)	missense	probably damaging	1.00
R6104:Pxylp1	UTSW	9	96,706,800 (GRCm39)	missense	possibly damaging	0.80
R6334:Pxylp1	UTSW	9	96,707,307 (GRCm39)	missense	probably damaging	0.99
R7115:Pxylp1	UTSW	9	96,707,063 (GRCm39)	missense	probably benign	0.02
R7475:Pxylp1	UTSW	9	96,738,420 (GRCm39)	critical splice donor site	probably null
R8258:Pxylp1	UTSW	9	96,707,633 (GRCm39)	missense	probably benign	0.01
R8259:Pxylp1	UTSW	9	96,707,633 (GRCm39)	missense	probably benign	0.01
R8307:Pxylp1	UTSW	9	96,721,137 (GRCm39)	critical splice donor site	probably null
R8967:Pxylp1	UTSW	9	96,707,324 (GRCm39)	missense	probably damaging	1.00
R9215:Pxylp1	UTSW	9	96,707,111 (GRCm39)	missense	possibly damaging	0.91
R9290:Pxylp1	UTSW	9	96,722,089 (GRCm39)	missense	probably damaging	0.99
R9709:Pxylp1	UTSW	9	96,711,030 (GRCm39)	missense	probably damaging	0.98
Z1176:Pxylp1	UTSW	9	96,707,009 (GRCm39)	missense	probably damaging	1.00
Z1177:Pxylp1	UTSW	9	96,706,990 (GRCm39)	frame shift	probably null
Z1177:Pxylp1	UTSW	9	96,706,989 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGCGCTTGTGGAAGTCATG -3'
(R):5'- ACAATGTCAGCTTCCCCTGC -3'

Sequencing Primer
(F):5'- GCCCCGTTATAAAGAATTCGG -3'
(R):5'- AGCTTCCCCTGCAGCAGAAG -3'

Posted On

2019-05-13