Incidental Mutation 'R2344:Pgm2l1'
| ID |
245923 |
| 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 # |
R2344 (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 99909115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 194
(I194V)
|
| 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: I194V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054782
Gene: ENSMUSG00000030729
AA Change: I194V
| 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: I194V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081998
Gene: ENSMUSG00000030729
AA Change: I194V
| 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 |
noncoding transcript
Transcript: ENSMUST00000160622
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162108
AA Change: I194V
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124851
Gene: ENSMUSG00000030729
AA Change: I194V
| 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: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
A |
G |
13: 14,328,075 (GRCm39) |
Q247R |
probably benign |
Het |
| Bend7 |
A |
T |
2: 4,793,345 (GRCm39) |
D383V |
probably damaging |
Het |
| Calm4 |
A |
G |
13: 3,888,298 (GRCm39) |
K135E |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,152,503 (GRCm39) |
D2412G |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,736 (GRCm39) |
T1057A |
unknown |
Het |
| Dpf3 |
T |
G |
12: 83,397,594 (GRCm39) |
D90A |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,280,490 (GRCm39) |
M348K |
probably benign |
Het |
| Elmo3 |
T |
C |
8: 106,035,793 (GRCm39) |
Y558H |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,472,746 (GRCm39) |
V79I |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,206,329 (GRCm39) |
M414T |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,094,318 (GRCm39) |
I389M |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,257 (GRCm39) |
F5330S |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,481,099 (GRCm39) |
I533V |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,546,417 (GRCm39) |
L167P |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,391,748 (GRCm39) |
F505I |
probably damaging |
Het |
| Il6 |
A |
T |
5: 30,219,854 (GRCm39) |
M77L |
probably benign |
Het |
| Or6c76b |
A |
T |
10: 129,692,410 (GRCm39) |
T8S |
probably benign |
Het |
| Rbpjl |
G |
T |
2: 164,256,312 (GRCm39) |
V433L |
probably damaging |
Het |
| Rps10 |
C |
G |
17: 27,853,081 (GRCm39) |
R96P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,415,575 (GRCm39) |
T387A |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,414 (GRCm39) |
T298M |
probably benign |
Het |
| Usp49 |
T |
C |
17: 47,983,828 (GRCm39) |
F278L |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,740,352 (GRCm39) |
C648R |
probably damaging |
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 |
|
|
R3804:Pgm2l1
|
UTSW |
7 |
99,901,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4292:Pgm2l1
|
UTSW |
7 |
99,899,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GACAAGTCTCTCTGAATTCATTACC -3'
(R):5'- AGGTTATCCTACAGTCCCACTTG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TCCCACTTGGATACCTGTAAAAACAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation