Incidental Mutation 'IGL01542:Gm4952'
| ID |
90180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm4952
|
| Ensembl Gene |
ENSMUSG00000071633 |
| Gene Name |
predicted gene 4952 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12577348-12604980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12595771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 54
(T54A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092931]
[ENSMUST00000181868]
|
| AlphaFold |
Q5FW57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092931
AA Change: T54A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: T54A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
206 |
2.6e-90 |
PFAM |
|
Pfam:Gly_acyl_tr_C
|
207 |
295 |
2.7e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181868
AA Change: T54A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633
AA Change: T54A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
206 |
3.7e-112 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,187 (GRCm39) |
M316V |
probably benign |
Het |
| Chd7 |
T |
G |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
| Clock |
T |
C |
5: 76,379,322 (GRCm39) |
E538G |
possibly damaging |
Het |
| Clpb |
G |
A |
7: 101,436,712 (GRCm39) |
V596I |
probably damaging |
Het |
| Col9a3 |
T |
C |
2: 180,251,109 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,060,020 (GRCm39) |
|
probably null |
Het |
| Drd4 |
T |
C |
7: 140,873,744 (GRCm39) |
|
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,813,055 (GRCm39) |
I105N |
probably damaging |
Het |
| Gm20939 |
A |
T |
17: 95,181,721 (GRCm39) |
|
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,183,655 (GRCm39) |
V132A |
probably benign |
Het |
| Kpna2 |
T |
A |
11: 106,882,027 (GRCm39) |
E266D |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,347,892 (GRCm39) |
E977G |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,721,392 (GRCm39) |
T142A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,800,372 (GRCm39) |
L919P |
probably damaging |
Het |
| Nhlrc1 |
A |
T |
13: 47,167,607 (GRCm39) |
F217I |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,745,901 (GRCm39) |
F65S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,070 (GRCm39) |
I468V |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,470,496 (GRCm39) |
|
probably null |
Het |
| Sctr |
A |
G |
1: 119,972,499 (GRCm39) |
|
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,278 (GRCm39) |
V126A |
probably benign |
Het |
| Smad3 |
C |
T |
9: 63,562,868 (GRCm39) |
R214Q |
probably damaging |
Het |
| Spmip3 |
A |
G |
1: 177,570,950 (GRCm39) |
T95A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,013,423 (GRCm39) |
M1219T |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,466,222 (GRCm39) |
N75K |
possibly damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,846 (GRCm39) |
S365P |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,314 (GRCm39) |
F153L |
probably damaging |
Het |
|
| Other mutations in Gm4952 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Gm4952
|
APN |
19 |
12,595,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Gm4952
|
APN |
19 |
12,600,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01714:Gm4952
|
APN |
19 |
12,602,075 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02339:Gm4952
|
APN |
19 |
12,604,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03068:Gm4952
|
APN |
19 |
12,601,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03100:Gm4952
|
APN |
19 |
12,602,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03274:Gm4952
|
APN |
19 |
12,600,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL03295:Gm4952
|
APN |
19 |
12,595,691 (GRCm39) |
missense |
probably benign |
0.39 |
|
PIT4520001:Gm4952
|
UTSW |
19 |
12,602,048 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0604:Gm4952
|
UTSW |
19 |
12,602,036 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1221:Gm4952
|
UTSW |
19 |
12,601,059 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1513:Gm4952
|
UTSW |
19 |
12,602,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1514:Gm4952
|
UTSW |
19 |
12,604,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Gm4952
|
UTSW |
19 |
12,595,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1928:Gm4952
|
UTSW |
19 |
12,600,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2447:Gm4952
|
UTSW |
19 |
12,595,770 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4930:Gm4952
|
UTSW |
19 |
12,604,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5360:Gm4952
|
UTSW |
19 |
12,600,993 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5704:Gm4952
|
UTSW |
19 |
12,604,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Gm4952
|
UTSW |
19 |
12,595,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7332:Gm4952
|
UTSW |
19 |
12,604,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7420:Gm4952
|
UTSW |
19 |
12,604,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Gm4952
|
UTSW |
19 |
12,604,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9573:Gm4952
|
UTSW |
19 |
12,604,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-03 |
Incidental Mutation