Incidental Mutation 'R5218:Gatb'
| ID |
403588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gatb
|
| Ensembl Gene |
ENSMUSG00000028085 |
| Gene Name |
glutamyl-tRNA amidotransferase subunit B |
| Synonyms |
9430026F02Rik, Pet112, Pet112l |
| MMRRC Submission |
042791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R5218 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
85481426-85562929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85511751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 169
(I169V)
|
| 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 benign
Transcript: ENSMUST00000107672
AA Change: I169V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: I169V
| 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 benign
Transcript: ENSMUST00000107674
AA Change: I169V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: I169V
| 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 benign
Transcript: ENSMUST00000127348
AA Change: I169V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: I169V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,628 (GRCm39) |
N230K |
possibly damaging |
Het |
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| Albfm1 |
A |
G |
5: 90,729,777 (GRCm39) |
K400R |
probably benign |
Het |
| Amigo1 |
A |
G |
3: 108,095,086 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
A |
T |
1: 171,236,328 (GRCm39) |
T901S |
probably benign |
Het |
| Arpp21 |
T |
C |
9: 111,972,499 (GRCm39) |
D264G |
probably damaging |
Het |
| Ccbe1 |
C |
T |
18: 66,216,229 (GRCm39) |
G165S |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,816,585 (GRCm39) |
D1786G |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,237,430 (GRCm39) |
L1008P |
unknown |
Het |
| Dclk2 |
T |
A |
3: 86,712,985 (GRCm39) |
D489V |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,052,177 (GRCm39) |
D259E |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,327,333 (GRCm39) |
S1184G |
possibly damaging |
Het |
| Dync1li2 |
C |
T |
8: 105,169,179 (GRCm39) |
W36* |
probably null |
Het |
| Ece2 |
A |
T |
16: 20,437,290 (GRCm39) |
M211L |
probably benign |
Het |
| Edn3 |
C |
T |
2: 174,603,345 (GRCm39) |
A31V |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,750,982 (GRCm39) |
Q266R |
possibly damaging |
Het |
| Fabp1 |
C |
A |
6: 71,176,944 (GRCm39) |
Q12K |
probably damaging |
Het |
| Flt1 |
G |
A |
5: 147,618,738 (GRCm39) |
T199M |
probably damaging |
Het |
| Galns |
T |
A |
8: 123,325,328 (GRCm39) |
I275F |
probably damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
| Gpd1 |
T |
A |
15: 99,618,011 (GRCm39) |
I109N |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,121 (GRCm39) |
|
probably null |
Het |
| Hsd17b12 |
T |
C |
2: 93,913,608 (GRCm39) |
N99D |
probably benign |
Het |
| Itga3 |
A |
T |
11: 94,953,574 (GRCm39) |
V256E |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,513,253 (GRCm39) |
Y527F |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,384,488 (GRCm39) |
E3580D |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Medag |
A |
T |
5: 149,345,719 (GRCm39) |
|
probably benign |
Het |
| Ncdn |
C |
A |
4: 126,644,603 (GRCm39) |
R73L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,170,034 (GRCm39) |
V339A |
probably benign |
Het |
| Ocln |
G |
T |
13: 100,642,822 (GRCm39) |
P420Q |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,270 (GRCm39) |
S265T |
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,064,185 (GRCm39) |
T681I |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,388 (GRCm39) |
V103E |
possibly damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,036 (GRCm39) |
F469S |
probably benign |
Het |
| Phrf1 |
A |
G |
7: 140,841,214 (GRCm39) |
N1353S |
possibly damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,326,586 (GRCm39) |
I72T |
probably damaging |
Het |
| Ppig |
T |
C |
2: 69,563,127 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,600,919 (GRCm39) |
S153G |
probably benign |
Het |
| Rab11b |
T |
C |
17: 33,967,924 (GRCm39) |
N91S |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Slc2a9 |
A |
G |
5: 38,610,524 (GRCm39) |
S92P |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,575,002 (GRCm39) |
|
probably null |
Het |
| Sox5 |
T |
C |
6: 143,906,616 (GRCm39) |
I280V |
possibly damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 112,029,909 (GRCm39) |
|
probably benign |
Het |
| Tmem273 |
T |
A |
14: 32,538,793 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,730,640 (GRCm39) |
N134K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl1 |
T |
G |
18: 63,812,538 (GRCm39) |
K85N |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,451,341 (GRCm39) |
M409K |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,274,812 (GRCm39) |
D53G |
probably damaging |
Het |
| Wnt10a |
G |
A |
1: 74,832,754 (GRCm39) |
V116I |
probably benign |
Het |
| Xpot |
T |
A |
10: 121,455,043 (GRCm39) |
D33V |
probably damaging |
Het |
| Znrf3 |
C |
T |
11: 5,231,519 (GRCm39) |
V665M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGGTTAATTATGCCAGCAG -3'
(R):5'- AAACCTGGCAGGACCCTCTAAG -3'
Sequencing Primer
(F):5'- CCTTGTTTCTCCTGTTATTTGGG -3'
(R):5'- TGCTTAAGGACATCCAGCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation