Incidental Mutation 'IGL00326:Gigyf1'
| ID |
27369 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gigyf1
|
| Ensembl Gene |
ENSMUSG00000029714 |
| Gene Name |
GRB10 interacting GYF protein 1 |
| Synonyms |
Perq1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.531)
|
| Stock # |
IGL00326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137516810-137526197 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
C to T
at 137517210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031727]
[ENSMUST00000111038]
[ENSMUST00000197624]
|
| AlphaFold |
Q99MR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031727
|
| SMART Domains |
Protein: ENSMUSP00000031727
Gene: ENSMUSG00000029714
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
379 |
N/A |
INTRINSIC |
|
coiled coil region
|
424 |
450 |
N/A |
INTRINSIC |
|
GYF
|
477 |
532 |
1.6e-25 |
SMART |
|
low complexity region
|
534 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
613 |
N/A |
INTRINSIC |
|
coiled coil region
|
671 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
877 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
893 |
N/A |
INTRINSIC |
|
coiled coil region
|
957 |
984 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111038
|
| SMART Domains |
Protein: ENSMUSP00000106667
Gene: ENSMUSG00000029711
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EPO_TPO
|
30 |
191 |
2.8e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197624
|
| SMART Domains |
Protein: ENSMUSP00000143670
Gene: ENSMUSG00000029714
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197762
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
G |
T |
4: 62,461,981 (GRCm39) |
|
probably null |
Het |
| 9230109A22Rik |
G |
T |
15: 25,139,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acd |
A |
T |
8: 106,425,086 (GRCm39) |
Y378N |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,112,560 (GRCm39) |
V709A |
probably benign |
Het |
| Axl |
A |
T |
7: 25,485,324 (GRCm39) |
L168H |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Drd3 |
G |
A |
16: 43,582,684 (GRCm39) |
R59H |
probably benign |
Het |
| Erlec1 |
T |
C |
11: 30,898,510 (GRCm39) |
N180S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,388,828 (GRCm39) |
S634R |
probably benign |
Het |
| Focad |
A |
T |
4: 88,275,711 (GRCm39) |
T1107S |
unknown |
Het |
| Galnt11 |
T |
C |
5: 25,453,829 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,274,316 (GRCm39) |
T353A |
probably benign |
Het |
| H2bc3 |
G |
T |
13: 23,931,111 (GRCm39) |
V112L |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,434,645 (GRCm39) |
S67T |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,387,936 (GRCm39) |
T824A |
probably damaging |
Het |
| Kansl1 |
A |
G |
11: 104,315,292 (GRCm39) |
S249P |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,858,611 (GRCm39) |
A86T |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,363 (GRCm39) |
A77V |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,895,780 (GRCm39) |
S289C |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,179 (GRCm39) |
S219T |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,665,495 (GRCm39) |
V140A |
probably benign |
Het |
| Pear1 |
C |
T |
3: 87,659,423 (GRCm39) |
V804I |
possibly damaging |
Het |
| Rgs11 |
T |
A |
17: 26,426,371 (GRCm39) |
I230N |
probably damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,315,017 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,755,766 (GRCm39) |
V44A |
probably damaging |
Het |
| Ttc12 |
G |
T |
9: 49,382,506 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,319 (GRCm39) |
|
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,113,591 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
G |
A |
11: 50,960,190 (GRCm39) |
E132K |
probably benign |
Het |
|
| Other mutations in Gigyf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Gigyf1
|
APN |
5 |
137,521,007 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00935:Gigyf1
|
APN |
5 |
137,523,096 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01717:Gigyf1
|
APN |
5 |
137,523,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02090:Gigyf1
|
APN |
5 |
137,523,826 (GRCm39) |
splice site |
probably null |
|
|
IGL02354:Gigyf1
|
APN |
5 |
137,517,989 (GRCm39) |
splice site |
probably benign |
|
|
IGL02361:Gigyf1
|
APN |
5 |
137,517,989 (GRCm39) |
splice site |
probably benign |
|
|
IGL03370:Gigyf1
|
APN |
5 |
137,523,952 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4354001:Gigyf1
|
UTSW |
5 |
137,522,366 (GRCm39) |
missense |
unknown |
|
|
R1415:Gigyf1
|
UTSW |
5 |
137,517,478 (GRCm39) |
splice site |
probably null |
|
|
R1764:Gigyf1
|
UTSW |
5 |
137,520,770 (GRCm39) |
unclassified |
probably benign |
|
|
R2259:Gigyf1
|
UTSW |
5 |
137,518,594 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2260:Gigyf1
|
UTSW |
5 |
137,518,594 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4656:Gigyf1
|
UTSW |
5 |
137,523,477 (GRCm39) |
nonsense |
probably null |
|
|
R4717:Gigyf1
|
UTSW |
5 |
137,523,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Gigyf1
|
UTSW |
5 |
137,523,032 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4733:Gigyf1
|
UTSW |
5 |
137,523,032 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4942:Gigyf1
|
UTSW |
5 |
137,523,952 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5338:Gigyf1
|
UTSW |
5 |
137,521,422 (GRCm39) |
unclassified |
probably benign |
|
|
R5503:Gigyf1
|
UTSW |
5 |
137,521,729 (GRCm39) |
unclassified |
probably benign |
|
|
R5790:Gigyf1
|
UTSW |
5 |
137,522,517 (GRCm39) |
unclassified |
probably benign |
|
|
R5888:Gigyf1
|
UTSW |
5 |
137,523,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Gigyf1
|
UTSW |
5 |
137,521,769 (GRCm39) |
splice site |
probably null |
|
|
R6544:Gigyf1
|
UTSW |
5 |
137,523,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Gigyf1
|
UTSW |
5 |
137,522,085 (GRCm39) |
missense |
unknown |
|
|
R7493:Gigyf1
|
UTSW |
5 |
137,523,795 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7660:Gigyf1
|
UTSW |
5 |
137,519,231 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7959:Gigyf1
|
UTSW |
5 |
137,522,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Gigyf1
|
UTSW |
5 |
137,523,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Gigyf1
|
UTSW |
5 |
137,520,457 (GRCm39) |
missense |
unknown |
|
|
R8552:Gigyf1
|
UTSW |
5 |
137,521,401 (GRCm39) |
unclassified |
probably benign |
|
|
R8936:Gigyf1
|
UTSW |
5 |
137,523,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9622:Gigyf1
|
UTSW |
5 |
137,522,926 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation