Incidental Mutation 'IGL01650:Gatb'
ID |
102810 |
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 # |
IGL01650
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
85481426-85562929 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85520791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 300
(I300T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103301
(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
AA Change: I300T
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103299 Gene: ENSMUSG00000028085 AA Change: I300T
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 |
possibly damaging
Transcript: ENSMUST00000107674
AA Change: I300T
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103301 Gene: ENSMUSG00000028085 AA Change: I300T
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 |
possibly damaging
Transcript: ENSMUST00000127348
AA Change: I300T
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119949 Gene: ENSMUSG00000028085 AA Change: I300T
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,070,067 (GRCm39) |
D281G |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,180,127 (GRCm39) |
E236G |
probably damaging |
Het |
Bltp1 |
G |
A |
3: 37,046,822 (GRCm39) |
|
probably benign |
Het |
Btbd3 |
A |
T |
2: 138,126,025 (GRCm39) |
D334V |
probably damaging |
Het |
Cabp4 |
T |
C |
19: 4,189,323 (GRCm39) |
E78G |
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,287,280 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,270,089 (GRCm39) |
Y600C |
unknown |
Het |
Cpne4 |
A |
G |
9: 104,778,710 (GRCm39) |
D167G |
probably damaging |
Het |
Eif3a |
T |
A |
19: 60,762,434 (GRCm39) |
I450F |
probably damaging |
Het |
Enpp2 |
T |
A |
15: 54,783,329 (GRCm39) |
Y10F |
probably benign |
Het |
Fam227a |
A |
T |
15: 79,518,274 (GRCm39) |
H339Q |
possibly damaging |
Het |
Far2 |
C |
A |
6: 148,074,985 (GRCm39) |
T406K |
possibly damaging |
Het |
Fmo1 |
A |
G |
1: 162,661,153 (GRCm39) |
S377P |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,821,430 (GRCm39) |
S5721N |
probably benign |
Het |
Gpam |
T |
C |
19: 55,070,132 (GRCm39) |
N375D |
probably benign |
Het |
Gsdma |
G |
T |
11: 98,564,513 (GRCm39) |
D331Y |
probably damaging |
Het |
Kif13b |
T |
C |
14: 65,002,594 (GRCm39) |
V1073A |
probably benign |
Het |
Mfsd4b1 |
T |
A |
10: 39,879,115 (GRCm39) |
M261L |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,498 (GRCm39) |
D1321E |
probably damaging |
Het |
Or4f59 |
A |
G |
2: 111,872,720 (GRCm39) |
I219T |
possibly damaging |
Het |
Or52j3 |
A |
G |
7: 102,836,286 (GRCm39) |
I159M |
probably benign |
Het |
Or6c69 |
A |
G |
10: 129,747,550 (GRCm39) |
V199A |
probably benign |
Het |
Or6c76b |
T |
A |
10: 129,692,936 (GRCm39) |
L183Q |
probably damaging |
Het |
Or8g32 |
G |
T |
9: 39,305,252 (GRCm39) |
S55I |
probably damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,242,053 (GRCm39) |
R857L |
unknown |
Het |
Prune2 |
T |
A |
19: 17,145,656 (GRCm39) |
I2752N |
possibly damaging |
Het |
Pxdn |
T |
C |
12: 30,052,400 (GRCm39) |
I859T |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,031,075 (GRCm39) |
D510G |
probably damaging |
Het |
Sema3g |
C |
A |
14: 30,943,744 (GRCm39) |
P208H |
probably benign |
Het |
Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
Tnfsf13b |
A |
T |
8: 10,081,411 (GRCm39) |
I219F |
probably damaging |
Het |
Vmn1r62 |
T |
C |
7: 5,679,024 (GRCm39) |
V235A |
probably damaging |
Het |
Vmn2r44 |
C |
A |
7: 8,383,103 (GRCm39) |
|
probably null |
Het |
Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
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 |
IGL01363:Gatb
|
APN |
3 |
85,559,652 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-01-21 |