Incidental Mutation 'R5871:Gatb'
ID |
455179 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gatb
|
Ensembl Gene |
ENSMUSG00000028085 |
Gene Name |
glutamyl-tRNA amidotransferase subunit B |
Synonyms |
9430026F02Rik, Pet112, Pet112l |
MMRRC Submission |
043234-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R5871 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
85481426-85562929 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 85561083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 533
(L533*)
|
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 null
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 null
Transcript: ENSMUST00000127348
AA Change: L533*
|
SMART Domains |
Protein: ENSMUSP00000119949 Gene: ENSMUSG00000028085 AA Change: L533*
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr1 |
A |
T |
1: 173,159,640 (GRCm39) |
L293Q |
probably damaging |
Het |
Ankrd13d |
A |
G |
19: 4,332,022 (GRCm39) |
V92A |
possibly damaging |
Het |
Anxa5 |
T |
A |
3: 36,506,398 (GRCm39) |
Q218L |
possibly damaging |
Het |
Bend6 |
T |
C |
1: 33,902,946 (GRCm39) |
M135V |
probably damaging |
Het |
Ccr5 |
T |
C |
9: 123,924,558 (GRCm39) |
F54L |
probably benign |
Het |
Chrng |
T |
C |
1: 87,134,451 (GRCm39) |
V164A |
possibly damaging |
Het |
Clca3a1 |
T |
G |
3: 144,460,642 (GRCm39) |
S271R |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,752,112 (GRCm39) |
T1282I |
probably damaging |
Het |
Dock10 |
C |
A |
1: 80,519,057 (GRCm39) |
|
probably null |
Het |
Esrrb |
A |
G |
12: 86,552,661 (GRCm39) |
Y196C |
probably benign |
Het |
Fam76a |
T |
C |
4: 132,631,321 (GRCm39) |
D208G |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,533,243 (GRCm39) |
E520G |
probably benign |
Het |
Fgf9 |
A |
T |
14: 58,320,656 (GRCm39) |
|
probably null |
Het |
Igsf10 |
G |
T |
3: 59,237,832 (GRCm39) |
A783D |
possibly damaging |
Het |
Ldlrap1 |
A |
G |
4: 134,486,240 (GRCm39) |
I73T |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,507,280 (GRCm39) |
|
probably benign |
Het |
Msr1 |
G |
A |
8: 40,064,693 (GRCm39) |
P327L |
probably damaging |
Het |
Myo18a |
T |
C |
11: 77,723,306 (GRCm39) |
Y823H |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,853,039 (GRCm39) |
E835G |
probably damaging |
Het |
Nfam1 |
A |
G |
15: 82,900,623 (GRCm39) |
S120P |
probably damaging |
Het |
Or4k44 |
A |
G |
2: 111,367,984 (GRCm39) |
S217P |
probably damaging |
Het |
Or56a3 |
T |
C |
7: 104,735,511 (GRCm39) |
V196A |
possibly damaging |
Het |
Or8b49 |
T |
A |
9: 38,505,628 (GRCm39) |
I37K |
possibly damaging |
Het |
Or9m2 |
T |
C |
2: 87,821,355 (GRCm39) |
F300S |
possibly damaging |
Het |
Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
Pik3r3 |
G |
T |
4: 116,143,355 (GRCm39) |
E283* |
probably null |
Het |
Plcg2 |
T |
A |
8: 118,230,956 (GRCm39) |
Y13N |
probably damaging |
Het |
Pth2r |
C |
T |
1: 65,427,796 (GRCm39) |
P490S |
probably damaging |
Het |
Rnf40 |
T |
A |
7: 127,190,757 (GRCm39) |
M275K |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,948,014 (GRCm39) |
E1223G |
possibly damaging |
Het |
Sec14l5 |
T |
A |
16: 4,986,717 (GRCm39) |
N168K |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,005,045 (GRCm39) |
V425A |
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,387,027 (GRCm39) |
V13A |
probably damaging |
Het |
Svil |
T |
A |
18: 5,103,669 (GRCm39) |
|
probably null |
Het |
Tbrg1 |
A |
G |
9: 37,562,278 (GRCm39) |
I300T |
probably damaging |
Het |
Tnni3k |
T |
A |
3: 154,736,007 (GRCm39) |
D112V |
probably benign |
Het |
Ubxn1 |
A |
G |
19: 8,851,576 (GRCm39) |
Q203R |
probably benign |
Het |
Ugt1a7c |
A |
G |
1: 88,023,381 (GRCm39) |
D180G |
possibly damaging |
Het |
Usp14 |
A |
G |
18: 9,996,234 (GRCm39) |
F449L |
probably benign |
Het |
Wwc2 |
A |
G |
8: 48,321,458 (GRCm39) |
L552P |
unknown |
Het |
Zscan10 |
A |
G |
17: 23,826,241 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGAACCTAGAAAGCTCTCAG -3'
(R):5'- AAGTGTAGCTTGGCTAGGGAC -3'
Sequencing Primer
(F):5'- TAGAAAGCTCTCAGAAGTTAACCC -3'
(R):5'- GACTAAGAGATACAACTTGTACAGC -3'
|
Posted On |
2017-02-10 |