Incidental Mutation 'IGL03035:Gatb'
| ID |
408633 |
| 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 # |
IGL03035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
85481426-85562929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85509254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 139
(K139E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107672]
[ENSMUST00000107674]
[ENSMUST00000127348]
[ENSMUST00000154148]
|
| AlphaFold |
Q99JT1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000029726
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107672
AA Change: K139E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: K139E
| 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 damaging
Transcript: ENSMUST00000107674
AA Change: K139E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: K139E
| 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: K139E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: K139E
| 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 |
|---|
| Abcc9 |
A |
G |
6: 142,573,319 (GRCm39) |
L1004P |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,741,518 (GRCm39) |
I385T |
possibly damaging |
Het |
| Alpk3 |
T |
C |
7: 80,728,352 (GRCm39) |
V494A |
probably benign |
Het |
| Camta2 |
C |
A |
11: 70,562,335 (GRCm39) |
E1021* |
probably null |
Het |
| Ccdc6 |
T |
A |
10: 70,018,006 (GRCm39) |
S334T |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,601 (GRCm39) |
V93A |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,711,833 (GRCm39) |
|
probably null |
Het |
| Crip2 |
A |
C |
12: 113,107,745 (GRCm39) |
T103P |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,133,608 (GRCm39) |
T83S |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,864,587 (GRCm39) |
V127D |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,563,277 (GRCm39) |
E609G |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,621,170 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,911,767 (GRCm39) |
L351* |
probably null |
Het |
| Emcn |
G |
T |
3: 137,078,612 (GRCm39) |
|
probably null |
Het |
| Fdft1 |
A |
T |
14: 63,400,838 (GRCm39) |
C98* |
probably null |
Het |
| Fer1l4 |
A |
G |
2: 155,864,526 (GRCm39) |
S1663P |
possibly damaging |
Het |
| Flt4 |
C |
A |
11: 49,536,724 (GRCm39) |
Y1231* |
probably null |
Het |
| Gtf2a1 |
C |
A |
12: 91,539,411 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
C |
5: 31,323,358 (GRCm39) |
V574G |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,100 (GRCm39) |
|
probably benign |
Het |
| Homer2 |
T |
A |
7: 81,274,026 (GRCm39) |
T57S |
possibly damaging |
Het |
| Ice2 |
C |
A |
9: 69,332,970 (GRCm39) |
F825L |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,622,177 (GRCm39) |
L370I |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,515,630 (GRCm39) |
Q1724* |
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,353,258 (GRCm39) |
D222G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,168 (GRCm39) |
V159A |
probably benign |
Het |
| Prl3b1 |
A |
G |
13: 27,433,516 (GRCm39) |
|
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,477,218 (GRCm39) |
M393K |
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 79,001,731 (GRCm39) |
H282L |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,865 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
A |
11: 119,336,452 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 51,952,080 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
A |
G |
2: 136,909,623 (GRCm39) |
D206G |
possibly damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,884 (GRCm39) |
D39V |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,869,726 (GRCm39) |
V1442A |
probably benign |
Het |
| Tbx3 |
C |
A |
5: 119,821,161 (GRCm39) |
|
probably benign |
Het |
| Ubl3 |
A |
G |
5: 148,442,947 (GRCm39) |
*118Q |
probably null |
Het |
| Vmn2r55 |
G |
A |
7: 12,404,743 (GRCm39) |
S220L |
probably benign |
Het |
| Vps36 |
A |
G |
8: 22,708,431 (GRCm39) |
K362E |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,348,802 (GRCm39) |
Q80K |
possibly damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation