Incidental Mutation 'R4292:Pgm2l1'
ID |
323119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgm2l1
|
Ensembl Gene |
ENSMUSG00000030729 |
Gene Name |
phosphoglucomutase 2-like 1 |
Synonyms |
4931406N15Rik, BM32A |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.211)
|
Stock # |
R4292 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
99876601-99928075 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99899508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 41
(T41A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054436]
[ENSMUST00000084935]
[ENSMUST00000162108]
|
AlphaFold |
Q8CAA7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054436
AA Change: T41A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054782 Gene: ENSMUSG00000030729 AA Change: T41A
Domain | Start | End | E-Value | Type |
Pfam:PGM_PMM_I
|
64 |
212 |
2.5e-36 |
PFAM |
Pfam:PGM_PMM_II
|
237 |
347 |
2e-25 |
PFAM |
Pfam:PGM_PMM_III
|
353 |
481 |
5.4e-15 |
PFAM |
Pfam:PGM_PMM_IV
|
524 |
604 |
5.9e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084935
AA Change: T41A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000081998 Gene: ENSMUSG00000030729 AA Change: T41A
Domain | Start | End | E-Value | Type |
Pfam:PGM_PMM_I
|
64 |
212 |
4e-36 |
PFAM |
Pfam:PGM_PMM_II
|
237 |
347 |
2.4e-26 |
PFAM |
Pfam:PGM_PMM_III
|
353 |
481 |
8e-16 |
PFAM |
Pfam:PGM_PMM_IV
|
526 |
601 |
8.1e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162108
AA Change: T41A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124851 Gene: ENSMUSG00000030729 AA Change: T41A
Domain | Start | End | E-Value | Type |
Pfam:PGM_PMM_I
|
64 |
212 |
4e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208158
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,772,977 (GRCm39) |
K1232E |
possibly damaging |
Het |
Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
Cep68 |
A |
T |
11: 20,190,079 (GRCm39) |
V311D |
probably damaging |
Het |
Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gcn1 |
G |
A |
5: 115,714,207 (GRCm39) |
A116T |
possibly damaging |
Het |
Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
Kif18a |
A |
T |
2: 109,128,471 (GRCm39) |
I376L |
probably damaging |
Het |
Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,085,723 (GRCm39) |
K1855R |
possibly damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
Or5b98 |
G |
A |
19: 12,931,520 (GRCm39) |
C189Y |
possibly damaging |
Het |
Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,097,834 (GRCm39) |
Y26C |
probably benign |
Het |
Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
Rrp12 |
T |
C |
19: 41,861,344 (GRCm39) |
|
probably null |
Het |
Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
Slco4c1 |
C |
G |
1: 96,772,381 (GRCm39) |
|
probably null |
Het |
Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
Tgfb2 |
T |
C |
1: 186,364,735 (GRCm39) |
H253R |
probably damaging |
Het |
Top3b |
A |
T |
16: 16,701,383 (GRCm39) |
I232F |
probably damaging |
Het |
Trim24 |
G |
A |
6: 37,877,627 (GRCm39) |
R39H |
possibly damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,656,320 (GRCm39) |
M851K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,762,855 (GRCm39) |
V3268A |
possibly damaging |
Het |
Unc79 |
A |
T |
12: 103,149,703 (GRCm39) |
Q2599L |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
|
Other mutations in Pgm2l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00590:Pgm2l1
|
APN |
7 |
99,904,826 (GRCm39) |
critical splice donor site |
probably null |
|
R0044:Pgm2l1
|
UTSW |
7 |
99,899,539 (GRCm39) |
missense |
probably benign |
0.01 |
R0044:Pgm2l1
|
UTSW |
7 |
99,899,539 (GRCm39) |
missense |
probably benign |
0.01 |
R0106:Pgm2l1
|
UTSW |
7 |
99,899,580 (GRCm39) |
missense |
probably benign |
0.07 |
R0106:Pgm2l1
|
UTSW |
7 |
99,899,580 (GRCm39) |
missense |
probably benign |
0.07 |
R0394:Pgm2l1
|
UTSW |
7 |
99,901,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R1518:Pgm2l1
|
UTSW |
7 |
99,910,932 (GRCm39) |
missense |
probably benign |
0.00 |
R2184:Pgm2l1
|
UTSW |
7 |
99,917,362 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2207:Pgm2l1
|
UTSW |
7 |
99,917,319 (GRCm39) |
splice site |
probably null |
|
R2344:Pgm2l1
|
UTSW |
7 |
99,909,115 (GRCm39) |
missense |
probably damaging |
0.99 |
R3804:Pgm2l1
|
UTSW |
7 |
99,901,474 (GRCm39) |
missense |
probably benign |
0.00 |
R4789:Pgm2l1
|
UTSW |
7 |
99,916,794 (GRCm39) |
missense |
probably benign |
|
R4872:Pgm2l1
|
UTSW |
7 |
99,877,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R5001:Pgm2l1
|
UTSW |
7 |
99,921,583 (GRCm39) |
missense |
probably benign |
0.00 |
R5081:Pgm2l1
|
UTSW |
7 |
99,917,472 (GRCm39) |
missense |
probably benign |
|
R5181:Pgm2l1
|
UTSW |
7 |
99,910,965 (GRCm39) |
missense |
probably benign |
0.01 |
R5417:Pgm2l1
|
UTSW |
7 |
99,921,583 (GRCm39) |
missense |
probably benign |
0.00 |
R5500:Pgm2l1
|
UTSW |
7 |
99,917,340 (GRCm39) |
missense |
probably benign |
0.00 |
R6057:Pgm2l1
|
UTSW |
7 |
99,915,881 (GRCm39) |
missense |
probably benign |
0.33 |
R6414:Pgm2l1
|
UTSW |
7 |
99,904,747 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7356:Pgm2l1
|
UTSW |
7 |
99,917,326 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7658:Pgm2l1
|
UTSW |
7 |
99,899,535 (GRCm39) |
missense |
probably damaging |
0.98 |
R7967:Pgm2l1
|
UTSW |
7 |
99,910,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R8031:Pgm2l1
|
UTSW |
7 |
99,921,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R8283:Pgm2l1
|
UTSW |
7 |
99,902,460 (GRCm39) |
missense |
probably benign |
0.26 |
R8432:Pgm2l1
|
UTSW |
7 |
99,909,260 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9289:Pgm2l1
|
UTSW |
7 |
99,919,629 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pgm2l1
|
UTSW |
7 |
99,919,662 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTGAGGACTCAGTAAGTGGAAGG -3'
(R):5'- ATGTAATACTTGCCTGTGTTGACTG -3'
Sequencing Primer
(F):5'- CAGGCTGTGAGTCTACAT -3'
(R):5'- ATACTTGCCTGTGTTGACTGTATTAC -3'
|
Posted On |
2015-06-20 |