Incidental Mutation 'IGL03003:Gbf1'
| ID |
407436 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbf1
|
| Ensembl Gene |
ENSMUSG00000025224 |
| Gene Name |
golgi-specific brefeldin A-resistance factor 1 |
| Synonyms |
1700083E03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46140948-46274949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46244094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 142
(L142S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026254]
[ENSMUST00000176992]
|
| AlphaFold |
Q6DFZ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026254
AA Change: L196S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: L196S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
270 |
288 |
N/A |
INTRINSIC |
|
Pfam:Sec7_N
|
400 |
551 |
3.4e-29 |
PFAM |
|
Sec7
|
696 |
884 |
8.55e-91 |
SMART |
|
low complexity region
|
1198 |
1216 |
N/A |
INTRINSIC |
|
low complexity region
|
1281 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1773 |
1793 |
N/A |
INTRINSIC |
|
low complexity region
|
1802 |
1820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175868
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176574
AA Change: L31S
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176992
AA Change: L142S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: L142S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
Pfam:Sec7_N
|
343 |
498 |
1.5e-35 |
PFAM |
|
Sec7
|
642 |
830 |
8.55e-91 |
SMART |
|
low complexity region
|
1144 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1227 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1715 |
1735 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1762 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177406
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,671,509 (GRCm39) |
P577L |
probably damaging |
Het |
| Aff3 |
A |
T |
1: 38,248,651 (GRCm39) |
S819T |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,676,982 (GRCm39) |
S209* |
probably null |
Het |
| Astn1 |
T |
A |
1: 158,439,965 (GRCm39) |
D844E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,828,608 (GRCm39) |
K29E |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,390,846 (GRCm39) |
S273P |
possibly damaging |
Het |
| Cd200r3 |
C |
A |
16: 44,764,139 (GRCm39) |
H2N |
probably benign |
Het |
| Cd200r3 |
G |
T |
16: 44,764,138 (GRCm39) |
M1I |
probably null |
Het |
| Col7a1 |
G |
A |
9: 108,804,024 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,642,640 (GRCm39) |
M240L |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,906 (GRCm39) |
V105A |
possibly damaging |
Het |
| Dmbt1 |
C |
A |
7: 130,684,409 (GRCm39) |
P635Q |
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,469,876 (GRCm39) |
M634K |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,495,140 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fga |
T |
C |
3: 82,940,037 (GRCm39) |
S564P |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 180,882,046 (GRCm39) |
V249A |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,323,498 (GRCm39) |
T4204K |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,732,725 (GRCm39) |
I270V |
probably benign |
Het |
| Katnip |
A |
T |
7: 125,451,132 (GRCm39) |
I1088F |
probably damaging |
Het |
| Kif6 |
C |
T |
17: 50,060,899 (GRCm39) |
R411* |
probably null |
Het |
| Klhl35 |
T |
A |
7: 99,119,550 (GRCm39) |
V345D |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,340,531 (GRCm39) |
D1531E |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,417,351 (GRCm39) |
D3432E |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,379,798 (GRCm39) |
V998D |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,782,726 (GRCm39) |
V228L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,424,910 (GRCm39) |
A210V |
possibly damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,283 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,464 (GRCm39) |
V80A |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,941,521 (GRCm39) |
Y15H |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,178,465 (GRCm39) |
N552Y |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,892,123 (GRCm39) |
S280T |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,812,577 (GRCm39) |
|
probably null |
Het |
| Polh |
A |
T |
17: 46,505,292 (GRCm39) |
V108E |
possibly damaging |
Het |
| Prob1 |
A |
G |
18: 35,786,428 (GRCm39) |
S609P |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,002,582 (GRCm39) |
N1557K |
probably damaging |
Het |
| Rev1 |
A |
C |
1: 38,127,154 (GRCm39) |
F369V |
possibly damaging |
Het |
| Rgma |
A |
G |
7: 73,067,188 (GRCm39) |
N148D |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,587 (GRCm39) |
L1003S |
probably damaging |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,076,925 (GRCm39) |
L337P |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,253 (GRCm39) |
Y15* |
probably null |
Het |
| Slc4a9 |
T |
C |
18: 36,669,946 (GRCm39) |
S722P |
probably damaging |
Het |
| Smarcc1 |
A |
G |
9: 110,035,168 (GRCm39) |
N864D |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,432,021 (GRCm39) |
L745P |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,380,699 (GRCm39) |
D137G |
probably damaging |
Het |
| Tbc1d1 |
G |
T |
5: 64,473,781 (GRCm39) |
W768L |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,887 (GRCm39) |
D7G |
probably benign |
Het |
| Tmem109 |
A |
C |
19: 10,851,695 (GRCm39) |
S64A |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,834 (GRCm39) |
R333G |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,611,955 (GRCm39) |
S17316R |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,681,549 (GRCm39) |
T668A |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,345,906 (GRCm39) |
F2716I |
possibly damaging |
Het |
|
| Other mutations in Gbf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Gbf1
|
APN |
19 |
46,272,688 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00988:Gbf1
|
APN |
19 |
46,272,559 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01352:Gbf1
|
APN |
19 |
46,253,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Gbf1
|
APN |
19 |
46,268,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01469:Gbf1
|
APN |
19 |
46,267,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01870:Gbf1
|
APN |
19 |
46,274,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02019:Gbf1
|
APN |
19 |
46,267,731 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02061:Gbf1
|
APN |
19 |
46,267,697 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02126:Gbf1
|
APN |
19 |
46,240,556 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02272:Gbf1
|
APN |
19 |
46,258,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02346:Gbf1
|
APN |
19 |
46,274,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Gbf1
|
APN |
19 |
46,250,979 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03130:Gbf1
|
APN |
19 |
46,255,787 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03376:Gbf1
|
APN |
19 |
46,250,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4651001:Gbf1
|
UTSW |
19 |
46,151,982 (GRCm39) |
missense |
probably benign |
|
|
R0107:Gbf1
|
UTSW |
19 |
46,273,267 (GRCm39) |
missense |
probably benign |
|
|
R0139:Gbf1
|
UTSW |
19 |
46,250,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Gbf1
|
UTSW |
19 |
46,274,161 (GRCm39) |
missense |
probably benign |
|
|
R0255:Gbf1
|
UTSW |
19 |
46,242,549 (GRCm39) |
splice site |
probably benign |
|
|
R0317:Gbf1
|
UTSW |
19 |
46,242,459 (GRCm39) |
missense |
probably benign |
|
|
R0329:Gbf1
|
UTSW |
19 |
46,260,709 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0372:Gbf1
|
UTSW |
19 |
46,274,143 (GRCm39) |
missense |
probably benign |
|
|
R0666:Gbf1
|
UTSW |
19 |
46,250,983 (GRCm39) |
unclassified |
probably benign |
|
|
R1463:Gbf1
|
UTSW |
19 |
46,259,984 (GRCm39) |
unclassified |
probably benign |
|
|
R1701:Gbf1
|
UTSW |
19 |
46,250,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Gbf1
|
UTSW |
19 |
46,260,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1962:Gbf1
|
UTSW |
19 |
46,255,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Gbf1
|
UTSW |
19 |
46,260,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Gbf1
|
UTSW |
19 |
46,260,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2177:Gbf1
|
UTSW |
19 |
46,254,109 (GRCm39) |
missense |
probably benign |
|
|
R2238:Gbf1
|
UTSW |
19 |
46,152,057 (GRCm39) |
missense |
probably benign |
|
|
R2239:Gbf1
|
UTSW |
19 |
46,152,057 (GRCm39) |
missense |
probably benign |
|
|
R2520:Gbf1
|
UTSW |
19 |
46,253,806 (GRCm39) |
missense |
probably benign |
|
|
R3821:Gbf1
|
UTSW |
19 |
46,253,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4681:Gbf1
|
UTSW |
19 |
46,268,989 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4695:Gbf1
|
UTSW |
19 |
46,247,606 (GRCm39) |
nonsense |
probably null |
|
|
R4785:Gbf1
|
UTSW |
19 |
46,256,834 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5202:Gbf1
|
UTSW |
19 |
46,256,893 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5359:Gbf1
|
UTSW |
19 |
46,272,164 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5468:Gbf1
|
UTSW |
19 |
46,272,735 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5593:Gbf1
|
UTSW |
19 |
46,260,963 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5595:Gbf1
|
UTSW |
19 |
46,272,861 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5796:Gbf1
|
UTSW |
19 |
46,272,782 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5938:Gbf1
|
UTSW |
19 |
46,256,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Gbf1
|
UTSW |
19 |
46,234,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6059:Gbf1
|
UTSW |
19 |
46,253,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Gbf1
|
UTSW |
19 |
46,267,760 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6239:Gbf1
|
UTSW |
19 |
46,248,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6252:Gbf1
|
UTSW |
19 |
46,259,995 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6310:Gbf1
|
UTSW |
19 |
46,268,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6787:Gbf1
|
UTSW |
19 |
46,260,211 (GRCm39) |
missense |
probably benign |
|
|
R6805:Gbf1
|
UTSW |
19 |
46,250,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6855:Gbf1
|
UTSW |
19 |
46,268,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Gbf1
|
UTSW |
19 |
46,268,793 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7414:Gbf1
|
UTSW |
19 |
46,271,797 (GRCm39) |
nonsense |
probably null |
|
|
R7646:Gbf1
|
UTSW |
19 |
46,272,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Gbf1
|
UTSW |
19 |
46,260,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Gbf1
|
UTSW |
19 |
46,242,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7801:Gbf1
|
UTSW |
19 |
46,261,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8241:Gbf1
|
UTSW |
19 |
46,234,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Gbf1
|
UTSW |
19 |
46,272,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Gbf1
|
UTSW |
19 |
46,256,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Gbf1
|
UTSW |
19 |
46,248,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9435:Gbf1
|
UTSW |
19 |
46,268,432 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9500:Gbf1
|
UTSW |
19 |
46,258,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9567:Gbf1
|
UTSW |
19 |
46,260,046 (GRCm39) |
missense |
|
|
|
R9576:Gbf1
|
UTSW |
19 |
46,248,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9642:Gbf1
|
UTSW |
19 |
46,258,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9680:Gbf1
|
UTSW |
19 |
46,271,837 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9760:Gbf1
|
UTSW |
19 |
46,244,137 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Gbf1
|
UTSW |
19 |
46,247,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation