Incidental Mutation 'R5064:Pxylp1'
| ID |
388264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pxylp1
|
| Ensembl Gene |
ENSMUSG00000043587 |
| Gene Name |
2-phosphoxylose phosphatase 1 |
| Synonyms |
Acpl2, C130099A20Rik, 9430094M07Rik |
| MMRRC Submission |
042654-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5064 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
96705389-96774722 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 96736853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078478]
[ENSMUST00000112951]
[ENSMUST00000119141]
[ENSMUST00000120101]
[ENSMUST00000121077]
[ENSMUST00000124923]
[ENSMUST00000126411]
[ENSMUST00000154146]
|
| AlphaFold |
Q8BHA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078478
|
| SMART Domains |
Protein: ENSMUSP00000077571
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 |
424 |
1.5e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112951
|
| SMART Domains |
Protein: ENSMUSP00000108574
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 |
424 |
2.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119141
|
| SMART Domains |
Protein: ENSMUSP00000113489
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 |
424 |
2.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120101
|
| SMART Domains |
Protein: ENSMUSP00000113210
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 |
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: ENSMUST00000124923
|
| SMART Domains |
Protein: ENSMUSP00000120377
Gene: ENSMUSG00000043587
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141127
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154146
|
| SMART Domains |
Protein: ENSMUSP00000114946
Gene: ENSMUSG00000043587
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.1%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,340,119 (GRCm39) |
V1082A |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,883 (GRCm39) |
Y1496N |
probably damaging |
Het |
| Ascl2 |
T |
C |
7: 142,521,996 (GRCm39) |
N151D |
possibly damaging |
Het |
| Asxl3 |
G |
T |
18: 22,649,076 (GRCm39) |
S355I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,448,278 (GRCm39) |
Q127R |
probably damaging |
Het |
| Efhc1 |
T |
A |
1: 21,045,187 (GRCm39) |
I401N |
possibly damaging |
Het |
| Eml6 |
C |
T |
11: 29,699,300 (GRCm39) |
V1818I |
probably benign |
Het |
| Grin1 |
G |
T |
2: 25,193,843 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,140,100 (GRCm39) |
R244H |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,564,775 (GRCm39) |
A527E |
probably damaging |
Het |
| Msh5 |
G |
T |
17: 35,262,759 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
A |
10: 62,959,150 (GRCm39) |
D1057V |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,469,167 (GRCm39) |
|
probably null |
Het |
| Nat8l |
T |
C |
5: 34,154,213 (GRCm39) |
V9A |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,565,410 (GRCm39) |
I247V |
probably benign |
Het |
| Nr1h2 |
G |
A |
7: 44,201,073 (GRCm39) |
A219V |
possibly damaging |
Het |
| Nup155 |
C |
A |
15: 8,165,354 (GRCm39) |
H663Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,319,974 (GRCm39) |
H200L |
probably benign |
Het |
| Por |
T |
C |
5: 135,762,649 (GRCm39) |
V421A |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,448 (GRCm39) |
V74I |
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,239,588 (GRCm39) |
I37T |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,330,951 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,785,946 (GRCm39) |
|
probably null |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,928 (GRCm39) |
M165K |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,534 (GRCm39) |
M787K |
probably damaging |
Het |
| Vta1 |
G |
T |
10: 14,581,222 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,080 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
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 |
|
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 |
|
R7057:Pxylp1
|
UTSW |
9 |
96,707,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TGAAAAGCGGCCCTCTTAAC -3'
(R):5'- GTGCACGTAACGAGCTATTCTAAC -3'
Sequencing Primer
(F):5'- GGCCCTCTTAACACAGACG -3'
(R):5'- CGTAACGAGCTATTCTAACCATGAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation