Incidental Mutation 'IGL02587:Gm5145'
| ID |
299583 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm5145
|
| Ensembl Gene |
ENSMUSG00000071273 |
| Gene Name |
predicted pseudogene 5145 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL02587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
20790631-20791460 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20791452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 277
(K277E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095633]
[ENSMUST00000169559]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095633
AA Change: K277E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093293
Gene: ENSMUSG00000071273
AA Change: K277E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
84 |
5.29e-5 |
SMART |
|
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
199 |
N/A |
INTRINSIC |
|
RRM
|
207 |
274 |
1.55e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169559
|
| SMART Domains |
Protein: ENSMUSP00000129347
Gene: ENSMUSG00000091259
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
83 |
467 |
3.1e-33 |
PFAM |
|
Pfam:NCD3G
|
510 |
563 |
5.2e-22 |
PFAM |
|
Pfam:7tm_3
|
594 |
831 |
4.2e-51 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,429,969 (GRCm39) |
T340I |
possibly damaging |
Het |
| Acot10 |
A |
T |
15: 20,665,883 (GRCm39) |
V286E |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,831,130 (GRCm39) |
L232P |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,096,134 (GRCm39) |
N104S |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,510 (GRCm39) |
E550G |
possibly damaging |
Het |
| Cfhr4 |
G |
A |
1: 139,629,668 (GRCm39) |
T712I |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,287 (GRCm39) |
N141K |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,587,851 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,236 (GRCm39) |
E1168G |
possibly damaging |
Het |
| Fbxo48 |
T |
C |
11: 16,903,659 (GRCm39) |
I95T |
probably benign |
Het |
| Fpr3 |
A |
T |
17: 18,190,953 (GRCm39) |
T75S |
probably benign |
Het |
| Gnao1 |
A |
G |
8: 94,677,067 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
A |
15: 101,907,367 (GRCm39) |
R239C |
probably benign |
Het |
| Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
| Neil1 |
C |
T |
9: 57,052,263 (GRCm39) |
R195H |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,217 (GRCm39) |
G946W |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,852 (GRCm39) |
N159I |
possibly damaging |
Het |
| Rad54l |
A |
G |
4: 115,962,994 (GRCm39) |
Y335H |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,675,684 (GRCm39) |
R159H |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,634,750 (GRCm39) |
D357G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Timeless |
A |
G |
10: 128,075,785 (GRCm39) |
M6V |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,281,636 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
C |
A |
17: 33,519,624 (GRCm39) |
Q31K |
probably damaging |
Het |
|
| Other mutations in Gm5145 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02350:Gm5145
|
APN |
17 |
20,790,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02357:Gm5145
|
APN |
17 |
20,790,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3159:Gm5145
|
UTSW |
17 |
20,791,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3885:Gm5145
|
UTSW |
17 |
20,791,272 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4151:Gm5145
|
UTSW |
17 |
20,791,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Gm5145
|
UTSW |
17 |
20,790,715 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4798:Gm5145
|
UTSW |
17 |
20,790,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Gm5145
|
UTSW |
17 |
20,791,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Gm5145
|
UTSW |
17 |
20,790,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7627:Gm5145
|
UTSW |
17 |
20,790,654 (GRCm39) |
nonsense |
probably null |
|
|
R7670:Gm5145
|
UTSW |
17 |
20,790,646 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7897:Gm5145
|
UTSW |
17 |
20,790,967 (GRCm39) |
missense |
probably benign |
|
|
R7901:Gm5145
|
UTSW |
17 |
20,790,900 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8336:Gm5145
|
UTSW |
17 |
20,790,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Gm5145
|
UTSW |
17 |
20,790,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Gm5145
|
UTSW |
17 |
20,791,270 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9053:Gm5145
|
UTSW |
17 |
20,791,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9362:Gm5145
|
UTSW |
17 |
20,791,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Gm5145
|
UTSW |
17 |
20,791,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation