Incidental Mutation 'IGL02880:Gatd1'
| ID |
362762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gatd1
|
| Ensembl Gene |
ENSMUSG00000051007 |
| Gene Name |
glutamine amidotransferase like class 1 domain containing 1 |
| Synonyms |
Pddc1, D230016J19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL02880
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140988097-140994038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 140990951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 65
(Q65H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106008]
|
| AlphaFold |
Q8BFQ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106008
AA Change: Q65H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101630
Gene: ENSMUSG00000051007
AA Change: Q65H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1U9C|A
|
29 |
220 |
7e-10 |
PDB |
|
SCOP:d1g2ia_
|
54 |
206 |
7e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209276
|
| 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 |
|---|
| Ankzf1 |
T |
C |
1: 75,169,312 (GRCm39) |
S73P |
probably benign |
Het |
| Camsap3 |
T |
C |
8: 3,653,913 (GRCm39) |
Y517H |
probably damaging |
Het |
| Catsperg1 |
C |
T |
7: 28,894,910 (GRCm39) |
M562I |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,283,310 (GRCm39) |
D7G |
probably benign |
Het |
| Ccdc65 |
A |
C |
15: 98,606,973 (GRCm39) |
N60T |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Col19a1 |
A |
G |
1: 24,365,054 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
T |
C |
9: 44,524,194 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
G |
A |
6: 5,966,821 (GRCm39) |
|
probably null |
Het |
| Eml6 |
T |
C |
11: 29,699,959 (GRCm39) |
N1726D |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,660,640 (GRCm39) |
S706P |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,741,071 (GRCm39) |
P497S |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,257,306 (GRCm39) |
E477G |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lag3 |
A |
G |
6: 124,882,434 (GRCm39) |
L354S |
probably benign |
Het |
| Lrp1 |
A |
C |
10: 127,376,091 (GRCm39) |
V4342G |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,651,517 (GRCm39) |
I491V |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,937,973 (GRCm39) |
L291P |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 54,019,525 (GRCm39) |
Y523H |
probably benign |
Het |
| Slc47a2 |
C |
T |
11: 61,198,366 (GRCm39) |
G443E |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,654,024 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
C |
T |
4: 45,885,278 (GRCm39) |
T582M |
possibly damaging |
Het |
| Tmem144 |
G |
A |
3: 79,734,929 (GRCm39) |
T163I |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,137,622 (GRCm39) |
Y120H |
probably damaging |
Het |
| Tspan3 |
G |
T |
9: 56,053,800 (GRCm39) |
Q184K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,628,270 (GRCm39) |
V14630D |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,642,584 (GRCm39) |
N1054I |
probably benign |
Het |
|
| Other mutations in Gatd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02136:Gatd1
|
APN |
7 |
140,988,873 (GRCm39) |
makesense |
probably null |
|
|
R1036:Gatd1
|
UTSW |
7 |
140,989,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Gatd1
|
UTSW |
7 |
140,989,806 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2966:Gatd1
|
UTSW |
7 |
140,989,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3902:Gatd1
|
UTSW |
7 |
140,989,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Gatd1
|
UTSW |
7 |
140,990,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4916:Gatd1
|
UTSW |
7 |
140,989,010 (GRCm39) |
nonsense |
probably null |
|
|
R5013:Gatd1
|
UTSW |
7 |
140,988,861 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5118:Gatd1
|
UTSW |
7 |
140,986,719 (GRCm39) |
unclassified |
probably benign |
|
|
R5538:Gatd1
|
UTSW |
7 |
140,986,758 (GRCm39) |
unclassified |
probably benign |
|
|
R7177:Gatd1
|
UTSW |
7 |
140,990,947 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7975:Gatd1
|
UTSW |
7 |
140,989,781 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-12-18 |
Incidental Mutation