Incidental Mutation 'IGL01363:Gatb'
ID |
75843 |
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 # |
IGL01363
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
85481426-85562929 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85559652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 492
(L492P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107674]
[ENSMUST00000127348]
[ENSMUST00000154148]
|
AlphaFold |
Q99JT1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000029726
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107674
AA Change: L492P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103301 Gene: ENSMUSG00000028085 AA Change: L492P
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 damaging
Transcript: ENSMUST00000127348
AA Change: L492P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119949 Gene: ENSMUSG00000028085 AA Change: L492P
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
G |
4: 124,504,483 (GRCm39) |
F23S |
probably damaging |
Het |
Abcg3 |
A |
G |
5: 105,096,228 (GRCm39) |
V528A |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,705,184 (GRCm39) |
V1542A |
probably damaging |
Het |
Alkbh3 |
A |
G |
2: 93,833,396 (GRCm39) |
|
probably null |
Het |
Ang4 |
G |
T |
14: 52,001,636 (GRCm39) |
T104K |
probably benign |
Het |
Arhgef3 |
T |
A |
14: 27,123,876 (GRCm39) |
C532* |
probably null |
Het |
Bnip3 |
G |
A |
7: 138,499,777 (GRCm39) |
T70I |
probably benign |
Het |
Cast |
T |
C |
13: 74,852,311 (GRCm39) |
E644G |
possibly damaging |
Het |
Cenpc1 |
A |
T |
5: 86,194,390 (GRCm39) |
C125* |
probably null |
Het |
Crb2 |
C |
A |
2: 37,683,845 (GRCm39) |
R1116S |
probably benign |
Het |
Cyp2c67 |
T |
G |
19: 39,628,411 (GRCm39) |
I178L |
probably damaging |
Het |
Cyp2c68 |
T |
A |
19: 39,691,871 (GRCm39) |
M351L |
probably benign |
Het |
Dusp1 |
G |
A |
17: 26,725,264 (GRCm39) |
P365L |
probably damaging |
Het |
Igkv8-19 |
T |
C |
6: 70,318,083 (GRCm39) |
S48G |
probably damaging |
Het |
Isyna1 |
G |
A |
8: 71,047,372 (GRCm39) |
V32I |
probably damaging |
Het |
Itgb6 |
T |
A |
2: 60,441,726 (GRCm39) |
N695Y |
possibly damaging |
Het |
Klra8 |
T |
C |
6: 130,092,561 (GRCm39) |
T247A |
probably benign |
Het |
Mak |
G |
A |
13: 41,206,853 (GRCm39) |
|
probably benign |
Het |
Minar2 |
G |
A |
18: 59,205,380 (GRCm39) |
G98D |
probably damaging |
Het |
Mndal |
T |
A |
1: 173,685,022 (GRCm39) |
T516S |
possibly damaging |
Het |
Mphosph9 |
G |
T |
5: 124,400,084 (GRCm39) |
T939K |
probably damaging |
Het |
Nfrkb |
A |
G |
9: 31,325,667 (GRCm39) |
T1037A |
possibly damaging |
Het |
Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
Or8c9 |
A |
G |
9: 38,240,999 (GRCm39) |
T39A |
probably benign |
Het |
Pard3b |
A |
G |
1: 62,676,799 (GRCm39) |
Y1011C |
probably damaging |
Het |
Parm1 |
G |
A |
5: 91,760,877 (GRCm39) |
V250M |
probably damaging |
Het |
Pgap2 |
T |
G |
7: 101,875,489 (GRCm39) |
M1R |
probably null |
Het |
Phlpp2 |
T |
C |
8: 110,663,729 (GRCm39) |
F923L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,925,470 (GRCm39) |
M739K |
probably benign |
Het |
Pramel1 |
A |
G |
4: 143,123,955 (GRCm39) |
Y210C |
probably benign |
Het |
Pramel27 |
A |
T |
4: 143,579,846 (GRCm39) |
Y477F |
probably benign |
Het |
Raver2 |
A |
G |
4: 100,977,780 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
C |
T |
1: 6,320,333 (GRCm39) |
L1251F |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,042,238 (GRCm39) |
Y238F |
probably damaging |
Het |
Shroom3 |
T |
C |
5: 93,088,852 (GRCm39) |
L534P |
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,952,713 (GRCm39) |
F1540L |
possibly damaging |
Het |
Tmem200b |
C |
A |
4: 131,649,704 (GRCm39) |
P208Q |
probably benign |
Het |
Tmem236 |
T |
C |
2: 14,179,441 (GRCm39) |
L14P |
probably damaging |
Het |
Tubgcp6 |
A |
T |
15: 88,991,728 (GRCm39) |
I623N |
probably damaging |
Het |
Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
probably benign |
Het |
Vmn2r98 |
A |
G |
17: 19,286,020 (GRCm39) |
N173D |
probably benign |
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 |
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 |
IGL03090:Gatb
|
APN |
3 |
85,526,330 (GRCm39) |
intron |
probably benign |
|
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 |
2013-10-07 |