Incidental Mutation 'R7115:Pxylp1'
| ID |
551732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pxylp1
|
| Ensembl Gene |
ENSMUSG00000043587 |
| Gene Name |
2-phosphoxylose phosphatase 1 |
| Synonyms |
Acpl2, C130099A20Rik, 9430094M07Rik |
| MMRRC Submission |
045206-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
96705389-96774722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96707063 bp (GRCm39)
|
| 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: 14,255,589 (GRCm39) |
I636N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 25,271,712 (GRCm39) |
I565T |
possibly damaging |
Het |
| Amd2 |
C |
A |
10: 35,587,633 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,323,727 (GRCm39) |
Y472* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,024 (GRCm39) |
F97S |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,208,446 (GRCm39) |
K267R |
|
Het |
| Carf |
G |
T |
1: 60,187,309 (GRCm39) |
L637F |
probably damaging |
Het |
| Ccdc103 |
A |
T |
11: 102,774,636 (GRCm39) |
S95C |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,147,874 (GRCm39) |
I156V |
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,929,664 (GRCm39) |
C96R |
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,457,310 (GRCm39) |
S1119A |
|
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,645 (GRCm39) |
T405M |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,493,961 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,547,710 (GRCm39) |
K2504N |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,220,306 (GRCm39) |
G275D |
|
Het |
| Elf3 |
T |
G |
1: 135,184,856 (GRCm39) |
D110A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,313,557 (GRCm39) |
N534S |
probably benign |
Het |
| Fry |
A |
T |
5: 150,309,532 (GRCm39) |
R659W |
probably damaging |
Het |
| Gm10428 |
G |
A |
11: 62,644,206 (GRCm39) |
C94Y |
unknown |
Het |
| Gm2696 |
T |
A |
10: 77,672,133 (GRCm39) |
C111S |
unknown |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,888,247 (GRCm39) |
N2338Y |
|
Het |
| Map2k1 |
A |
G |
9: 64,119,888 (GRCm39) |
I139T |
probably damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,598,003 (GRCm39) |
Y79C |
probably benign |
Het |
| Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,560,147 (GRCm39) |
N484S |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,108,986 (GRCm39) |
V293A |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,242,420 (GRCm39) |
I29T |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,154,962 (GRCm39) |
Q666* |
probably null |
Het |
| Spice1 |
G |
A |
16: 44,199,638 (GRCm39) |
G697R |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,934,567 (GRCm39) |
F81L |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 36,054,644 (GRCm39) |
S572L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,977 (GRCm39) |
T128A |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,142,514 (GRCm39) |
Q334L |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,370,527 (GRCm39) |
R840* |
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 |
|
R7057:Pxylp1
|
UTSW |
9 |
96,707,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CTCAAGAGGACACATAGGCTTGG -3'
(R):5'- GCATGGAGCACTTCAAGGTG -3'
Sequencing Primer
(F):5'- AGAGCGCTTGTGGAAGTC -3'
(R):5'- GCACTTCAAGGTGATCAAGACGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation