Incidental Mutation 'IGL03090:Gatb'
| ID |
418361 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gatb
|
| Ensembl Gene |
ENSMUSG00000028085 |
| Gene Name |
glutamyl-tRNA amidotransferase subunit B |
| Synonyms |
9430026F02Rik, Pet112, Pet112l |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL03090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
85481426-85562929 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 85526330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107672]
[ENSMUST00000107674]
[ENSMUST00000127348]
[ENSMUST00000154148]
|
| AlphaFold |
Q99JT1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000029726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107672
|
| SMART Domains |
Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GatB_N
|
65 |
353 |
8.3e-103 |
PFAM |
|
Pfam:GatB_Yqey
|
406 |
472 |
6.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107674
|
| SMART Domains |
Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GatB_N
|
64 |
354 |
6.7e-105 |
PFAM |
|
GatB_Yqey
|
406 |
518 |
2.09e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127348
|
| SMART Domains |
Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GatB_N
|
65 |
353 |
8.3e-101 |
PFAM |
|
GatB_Yqey
|
406 |
555 |
4.13e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154148
|
| SMART Domains |
Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
1 |
227 |
7.15e-121 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
A |
G |
8: 41,247,965 (GRCm39) |
Y25C |
probably benign |
Het |
| Agap3 |
A |
C |
5: 24,706,204 (GRCm39) |
T823P |
possibly damaging |
Het |
| Arap3 |
T |
C |
18: 38,122,165 (GRCm39) |
E641G |
probably benign |
Het |
| Armc6 |
C |
T |
8: 70,684,004 (GRCm39) |
R16Q |
probably benign |
Het |
| Asb15 |
T |
A |
6: 24,567,185 (GRCm39) |
I502K |
possibly damaging |
Het |
| Atp8b3 |
T |
A |
10: 80,366,438 (GRCm39) |
N275I |
probably damaging |
Het |
| Calr |
G |
A |
8: 85,573,373 (GRCm39) |
P19S |
possibly damaging |
Het |
| Cdc6 |
T |
A |
11: 98,810,122 (GRCm39) |
L477* |
probably null |
Het |
| Clba1 |
T |
C |
12: 112,779,340 (GRCm39) |
|
probably null |
Het |
| Cnnm4 |
A |
G |
1: 36,510,952 (GRCm39) |
D60G |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,585,652 (GRCm39) |
Q1242K |
probably damaging |
Het |
| Dusp18 |
T |
A |
11: 3,847,466 (GRCm39) |
I152N |
probably damaging |
Het |
| Eef1akmt1 |
T |
C |
14: 57,795,543 (GRCm39) |
T69A |
probably damaging |
Het |
| Efhb |
T |
C |
17: 53,769,958 (GRCm39) |
Q117R |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,514,558 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 16,288,535 (GRCm39) |
W329* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,344,858 (GRCm39) |
Y1727C |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gpr33 |
A |
T |
12: 52,070,809 (GRCm39) |
S77T |
probably damaging |
Het |
| Gramd1c |
A |
T |
16: 43,802,463 (GRCm39) |
D649E |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,854,221 (GRCm39) |
L3745H |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,426,977 (GRCm39) |
M87K |
probably benign |
Het |
| Krt39 |
T |
G |
11: 99,409,833 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
A |
2: 31,798,710 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
T |
G |
9: 123,285,025 (GRCm39) |
M786R |
probably damaging |
Het |
| Lmcd1 |
T |
A |
6: 112,287,460 (GRCm39) |
S49T |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,680,448 (GRCm39) |
Y2689H |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,970,677 (GRCm39) |
V188A |
probably benign |
Het |
| Mbd6 |
A |
C |
10: 127,123,013 (GRCm39) |
L49W |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,028,115 (GRCm39) |
Y100F |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,801,418 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,538,396 (GRCm39) |
D663G |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,908,254 (GRCm39) |
M1075L |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,382,165 (GRCm39) |
Y240* |
probably null |
Het |
| Pomk |
T |
A |
8: 26,473,338 (GRCm39) |
N205I |
probably damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,006,575 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,385,672 (GRCm39) |
E250G |
possibly damaging |
Het |
| Slc26a6 |
A |
G |
9: 108,737,890 (GRCm39) |
E541G |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,531,661 (GRCm39) |
E876G |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,587,643 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
A |
G |
4: 132,590,540 (GRCm39) |
V119A |
probably benign |
Het |
| Tmem8b |
T |
A |
4: 43,689,721 (GRCm39) |
S333T |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,278,753 (GRCm39) |
|
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,759,245 (GRCm39) |
R410G |
probably damaging |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,463 (GRCm39) |
I116T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,041 (GRCm39) |
L274Q |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,014,142 (GRCm39) |
F2655I |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,071 (GRCm39) |
Y737N |
probably damaging |
Het |
| Zyx |
C |
A |
6: 42,334,276 (GRCm39) |
S500* |
probably null |
Het |
|
| Other mutations in Gatb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Gatb
|
APN |
3 |
85,509,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00963:Gatb
|
APN |
3 |
85,526,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01363:Gatb
|
APN |
3 |
85,559,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01650:Gatb
|
APN |
3 |
85,520,791 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01973:Gatb
|
APN |
3 |
85,518,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02195:Gatb
|
APN |
3 |
85,511,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02670:Gatb
|
APN |
3 |
85,520,858 (GRCm39) |
splice site |
probably null |
|
|
IGL02992:Gatb
|
APN |
3 |
85,526,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03025:Gatb
|
APN |
3 |
85,483,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03035:Gatb
|
APN |
3 |
85,509,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Gatb
|
UTSW |
3 |
85,561,133 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1313:Gatb
|
UTSW |
3 |
85,561,133 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1851:Gatb
|
UTSW |
3 |
85,526,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1852:Gatb
|
UTSW |
3 |
85,526,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2134:Gatb
|
UTSW |
3 |
85,518,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Gatb
|
UTSW |
3 |
85,561,112 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5189:Gatb
|
UTSW |
3 |
85,544,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5218:Gatb
|
UTSW |
3 |
85,511,751 (GRCm39) |
missense |
probably benign |
|
|
R5857:Gatb
|
UTSW |
3 |
85,483,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5871:Gatb
|
UTSW |
3 |
85,561,083 (GRCm39) |
nonsense |
probably null |
|
|
R6031:Gatb
|
UTSW |
3 |
85,520,818 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6031:Gatb
|
UTSW |
3 |
85,520,818 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6430:Gatb
|
UTSW |
3 |
85,544,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6661:Gatb
|
UTSW |
3 |
85,559,726 (GRCm39) |
splice site |
probably null |
|
|
R7184:Gatb
|
UTSW |
3 |
85,544,258 (GRCm39) |
nonsense |
probably null |
|
|
R7210:Gatb
|
UTSW |
3 |
85,481,527 (GRCm39) |
missense |
probably benign |
|
|
R7501:Gatb
|
UTSW |
3 |
85,544,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7919:Gatb
|
UTSW |
3 |
85,511,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8335:Gatb
|
UTSW |
3 |
85,481,628 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8536:Gatb
|
UTSW |
3 |
85,511,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8867:Gatb
|
UTSW |
3 |
85,511,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Gatb
|
UTSW |
3 |
85,561,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Gatb
|
UTSW |
3 |
85,559,801 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0013:Gatb
|
UTSW |
3 |
85,509,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gatb
|
UTSW |
3 |
85,544,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation