Incidental Mutation 'R5593:Gbf1'
| ID |
437670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbf1
|
| Ensembl Gene |
ENSMUSG00000025224 |
| Gene Name |
golgi-specific brefeldin A-resistance factor 1 |
| Synonyms |
1700083E03Rik |
| MMRRC Submission |
043145-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5593 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46140948-46274949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46260963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 1176
(Q1176R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026254]
[ENSMUST00000176992]
|
| AlphaFold |
Q6DFZ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026254
AA Change: Q1176R
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026254
Gene: ENSMUSG00000025224
AA Change: Q1176R
| 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: ENSMUST00000130184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176853
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176992
AA Change: Q1122R
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135062
Gene: ENSMUSG00000025224
AA Change: Q1122R
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177512
|
| Meta Mutation Damage Score |
0.2329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (71/71) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
| Anpep |
T |
G |
7: 79,491,794 (GRCm39) |
K69T |
probably benign |
Het |
| Appbp2 |
A |
T |
11: 85,085,409 (GRCm39) |
I499K |
possibly damaging |
Het |
| Copb2 |
A |
G |
9: 98,469,091 (GRCm39) |
|
probably null |
Het |
| Cpa5 |
T |
C |
6: 30,630,848 (GRCm39) |
I370T |
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,078,898 (GRCm39) |
T268A |
probably benign |
Het |
| Ctbp2 |
C |
A |
7: 132,600,598 (GRCm39) |
R99I |
possibly damaging |
Het |
| Cul1 |
G |
A |
6: 47,462,020 (GRCm39) |
W196* |
probably null |
Het |
| Cul1 |
T |
C |
6: 47,491,925 (GRCm39) |
F402L |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Dyrk1a |
C |
A |
16: 94,460,442 (GRCm39) |
Q33K |
possibly damaging |
Het |
| Elapor2 |
T |
A |
5: 9,316,350 (GRCm39) |
L27Q |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,000,689 (GRCm39) |
S542T |
probably damaging |
Het |
| Eps8l3 |
A |
T |
3: 107,798,504 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,544,321 (GRCm39) |
H690R |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,524,259 (GRCm39) |
|
probably benign |
Het |
| Gadl1 |
G |
T |
9: 115,835,718 (GRCm39) |
G382V |
probably damaging |
Het |
| Gdf9 |
A |
T |
11: 53,324,558 (GRCm39) |
H109L |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,738,856 (GRCm39) |
V411D |
probably damaging |
Het |
| Hdc |
T |
C |
2: 126,460,504 (GRCm39) |
|
probably benign |
Het |
| Ifrd2 |
A |
G |
9: 107,467,374 (GRCm39) |
D82G |
probably damaging |
Het |
| Itpkb |
T |
C |
1: 180,161,661 (GRCm39) |
S596P |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,546,096 (GRCm39) |
V8A |
possibly damaging |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,393 (GRCm39) |
T229I |
probably damaging |
Het |
| Medag |
T |
A |
5: 149,350,415 (GRCm39) |
F21L |
probably benign |
Het |
| Mefv |
A |
T |
16: 3,533,315 (GRCm39) |
C319S |
probably benign |
Het |
| Mettl23 |
T |
A |
11: 116,734,593 (GRCm39) |
V54D |
probably damaging |
Het |
| Mul1 |
A |
G |
4: 138,166,543 (GRCm39) |
D199G |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,260,130 (GRCm39) |
I266N |
probably damaging |
Het |
| Nek10 |
A |
T |
14: 14,980,544 (GRCm38) |
K967* |
probably null |
Het |
| Nrcam |
A |
G |
12: 44,606,483 (GRCm39) |
T410A |
probably damaging |
Het |
| Or1p1 |
A |
G |
11: 74,179,618 (GRCm39) |
I49V |
possibly damaging |
Het |
| Or2b11 |
T |
C |
11: 59,461,874 (GRCm39) |
R231G |
possibly damaging |
Het |
| Or52d13 |
C |
T |
7: 103,109,592 (GRCm39) |
|
silent |
Het |
| Or52e4 |
T |
C |
7: 104,705,711 (GRCm39) |
I86T |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,778 (GRCm39) |
D24V |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,932,117 (GRCm39) |
I1124V |
possibly damaging |
Het |
| Ptprc |
A |
T |
1: 138,045,458 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,257,378 (GRCm39) |
|
probably benign |
Het |
| Rnf208 |
G |
T |
2: 25,133,345 (GRCm39) |
W13L |
possibly damaging |
Het |
| Rps6kl1 |
G |
T |
12: 85,193,675 (GRCm39) |
Q139K |
possibly damaging |
Het |
| Sdk1 |
T |
A |
5: 141,941,879 (GRCm39) |
I509N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,898,098 (GRCm39) |
I170V |
probably benign |
Het |
| Slc17a8 |
C |
T |
10: 89,442,702 (GRCm39) |
D44N |
probably benign |
Het |
| Slc23a1 |
T |
A |
18: 35,755,349 (GRCm39) |
I489F |
probably damaging |
Het |
| Slc25a19 |
A |
T |
11: 115,507,418 (GRCm39) |
Y235N |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,233,486 (GRCm39) |
V40A |
probably benign |
Het |
| Slurp2 |
C |
T |
15: 74,614,917 (GRCm39) |
V75I |
probably benign |
Het |
| Smc1b |
A |
C |
15: 85,005,842 (GRCm39) |
M354R |
probably benign |
Het |
| Spice1 |
C |
A |
16: 44,191,115 (GRCm39) |
A323E |
possibly damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,798,975 (GRCm39) |
V2015E |
probably damaging |
Het |
| Sptlc2 |
A |
C |
12: 87,415,857 (GRCm39) |
F57V |
probably benign |
Het |
| Srsf1 |
A |
G |
11: 87,938,705 (GRCm39) |
N14S |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,312,192 (GRCm39) |
D228E |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,088,390 (GRCm39) |
*1480W |
probably null |
Het |
| Syt14 |
A |
T |
1: 192,613,231 (GRCm39) |
M523K |
probably damaging |
Het |
| Tff3 |
A |
T |
17: 31,348,516 (GRCm39) |
V12E |
probably benign |
Het |
| Tgm2 |
C |
A |
2: 157,969,262 (GRCm39) |
C371F |
probably damaging |
Het |
| Tmem260 |
A |
C |
14: 48,711,501 (GRCm39) |
I197L |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,152,747 (GRCm39) |
D887G |
possibly damaging |
Het |
| Vstm4 |
G |
T |
14: 32,641,247 (GRCm39) |
A277S |
probably benign |
Het |
| Wdtc1 |
A |
T |
4: 133,021,702 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
G |
5: 137,466,600 (GRCm39) |
F419S |
possibly damaging |
Het |
| Zfp317 |
G |
A |
9: 19,558,584 (GRCm39) |
R266Q |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,595 (GRCm39) |
T264S |
possibly damaging |
Het |
| Zpld2 |
T |
C |
4: 133,920,350 (GRCm39) |
K605R |
probably 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 |
|
|
IGL03003:Gbf1
|
APN |
19 |
46,244,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTGTGCAAAAGGCTGAC -3'
(R):5'- AGCTGCTACTGTGGCCTTAG -3'
Sequencing Primer
(F):5'- AGCCATCTTGCTGAGCAG -3'
(R):5'- GCCTTAGCCCCTTGCATACTTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation