Incidental Mutation 'R5871:Gatb'
| ID |
455179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gatb
|
| Ensembl Gene |
ENSMUSG00000028085 |
| Gene Name |
glutamyl-tRNA(Gln) amidotransferase, subunit B |
| Synonyms |
Pet112, Pet112l, 9430026F02Rik |
| MMRRC Submission |
043234-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R5871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85574119-85655622 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 85653776 bp (GRCm38)
|
| 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: 173,332,073 |
L293Q |
probably damaging |
Het |
| Ankrd13d |
A |
G |
19: 4,281,994 |
V92A |
possibly damaging |
Het |
| Anxa5 |
T |
A |
3: 36,452,249 |
Q218L |
possibly damaging |
Het |
| Bend6 |
T |
C |
1: 33,863,865 |
M135V |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 124,124,521 |
F54L |
probably benign |
Het |
| Chrng |
T |
C |
1: 87,206,729 |
V164A |
possibly damaging |
Het |
| Clca3a1 |
T |
G |
3: 144,754,881 |
S271R |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,888,716 |
T1282I |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,541,340 |
|
probably null |
Het |
| Esrrb |
A |
G |
12: 86,505,887 |
Y196C |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,904,010 |
D208G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,556,282 |
E520G |
probably benign |
Het |
| Fgf9 |
A |
T |
14: 58,083,199 |
|
probably null |
Het |
| Gm884 |
T |
C |
11: 103,616,454 |
|
probably benign |
Het |
| Igsf10 |
G |
T |
3: 59,330,411 |
A783D |
possibly damaging |
Het |
| Ldlrap1 |
A |
G |
4: 134,758,929 |
I73T |
probably damaging |
Het |
| Msr1 |
G |
A |
8: 39,611,652 |
P327L |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,832,480 |
Y823H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,695,697 |
E835G |
probably damaging |
Het |
| Nfam1 |
A |
G |
15: 83,016,422 |
S120P |
probably damaging |
Het |
| Olfr1158 |
T |
C |
2: 87,991,011 |
F300S |
possibly damaging |
Het |
| Olfr1294 |
A |
G |
2: 111,537,639 |
S217P |
probably damaging |
Het |
| Olfr679 |
T |
C |
7: 105,086,304 |
V196A |
possibly damaging |
Het |
| Olfr913 |
T |
A |
9: 38,594,332 |
I37K |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,794,401 |
V248A |
probably benign |
Het |
| Pik3r3 |
G |
T |
4: 116,286,158 |
E283* |
probably null |
Het |
| Plcg2 |
T |
A |
8: 117,504,217 |
Y13N |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,388,637 |
P490S |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,591,585 |
M275K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,221,386 |
E1223G |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 5,168,853 |
N168K |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,355,621 |
V425A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,398,583 |
V13A |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,103,669 |
|
probably null |
Het |
| Tbrg1 |
A |
G |
9: 37,650,982 |
I300T |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 155,030,370 |
D112V |
probably benign |
Het |
| Ubxn1 |
A |
G |
19: 8,874,212 |
Q203R |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,095,659 |
D180G |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,234 |
F449L |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 47,868,423 |
L552P |
unknown |
Het |
| Zscan10 |
A |
G |
17: 23,607,267 |
|
probably benign |
Het |
|
| Other mutations in Gatb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Gatb
|
APN |
3 |
85,601,920 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL00963:Gatb
|
APN |
3 |
85,618,948 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01363:Gatb
|
APN |
3 |
85,652,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01650:Gatb
|
APN |
3 |
85,613,484 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL01973:Gatb
|
APN |
3 |
85,611,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02195:Gatb
|
APN |
3 |
85,604,448 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02670:Gatb
|
APN |
3 |
85,613,551 (GRCm38) |
splice site |
probably null |
|
|
IGL02992:Gatb
|
APN |
3 |
85,618,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03025:Gatb
|
APN |
3 |
85,575,874 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03035:Gatb
|
APN |
3 |
85,601,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03090:Gatb
|
APN |
3 |
85,619,023 (GRCm38) |
intron |
probably benign |
|
|
R1313:Gatb
|
UTSW |
3 |
85,653,826 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1851:Gatb
|
UTSW |
3 |
85,618,877 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1852:Gatb
|
UTSW |
3 |
85,618,877 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2134:Gatb
|
UTSW |
3 |
85,611,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2209:Gatb
|
UTSW |
3 |
85,653,805 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5189:Gatb
|
UTSW |
3 |
85,636,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5218:Gatb
|
UTSW |
3 |
85,604,444 (GRCm38) |
missense |
probably benign |
|
|
R5857:Gatb
|
UTSW |
3 |
85,575,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6031:Gatb
|
UTSW |
3 |
85,613,511 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6031:Gatb
|
UTSW |
3 |
85,613,511 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6430:Gatb
|
UTSW |
3 |
85,637,038 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6661:Gatb
|
UTSW |
3 |
85,652,419 (GRCm38) |
splice site |
probably null |
|
|
R7184:Gatb
|
UTSW |
3 |
85,636,951 (GRCm38) |
nonsense |
probably null |
|
|
R7210:Gatb
|
UTSW |
3 |
85,574,220 (GRCm38) |
missense |
probably benign |
|
|
R7501:Gatb
|
UTSW |
3 |
85,636,990 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7919:Gatb
|
UTSW |
3 |
85,604,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8335:Gatb
|
UTSW |
3 |
85,574,321 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8536:Gatb
|
UTSW |
3 |
85,604,561 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8867:Gatb
|
UTSW |
3 |
85,604,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9312:Gatb
|
UTSW |
3 |
85,653,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9330:Gatb
|
UTSW |
3 |
85,652,494 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0013:Gatb
|
UTSW |
3 |
85,601,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Gatb
|
UTSW |
3 |
85,636,973 (GRCm38) |
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 |
Incidental Mutation