Incidental Mutation 'R1415:Gigyf1'
ID |
159772 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gigyf1
|
Ensembl Gene |
ENSMUSG00000029714 |
Gene Name |
GRB10 interacting GYF protein 1 |
Synonyms |
Perq1 |
MMRRC Submission |
039471-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R1415 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137516810-137526197 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 137517478 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 null
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 null
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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,303,982 (GRCm39) |
V135A |
probably benign |
Het |
Adam21 |
C |
T |
12: 81,606,321 (GRCm39) |
W480* |
probably null |
Het |
Ccdc71 |
T |
A |
9: 108,340,407 (GRCm39) |
Y73* |
probably null |
Het |
Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
Dnajb11 |
T |
C |
16: 22,689,371 (GRCm39) |
V264A |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,328,777 (GRCm39) |
E1174G |
probably damaging |
Het |
Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
Letm1 |
A |
T |
5: 33,926,906 (GRCm39) |
N130K |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,519,676 (GRCm39) |
Y137C |
probably damaging |
Het |
Map3k2 |
A |
G |
18: 32,361,330 (GRCm39) |
I597V |
possibly damaging |
Het |
Nek1 |
A |
G |
8: 61,542,720 (GRCm39) |
E770G |
probably benign |
Het |
Or4d2b |
A |
C |
11: 87,780,473 (GRCm39) |
V83G |
possibly damaging |
Het |
Or52n2b |
A |
G |
7: 104,565,543 (GRCm39) |
I320T |
probably benign |
Het |
Pank2 |
T |
A |
2: 131,124,638 (GRCm39) |
Y68* |
probably null |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Secisbp2l |
C |
A |
2: 125,582,285 (GRCm39) |
G1057V |
probably benign |
Het |
Slc30a2 |
C |
T |
4: 134,076,660 (GRCm39) |
T265M |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,688,084 (GRCm39) |
E1239G |
probably null |
Het |
Snx30 |
C |
T |
4: 59,879,261 (GRCm39) |
R167C |
probably damaging |
Het |
Tmem26 |
T |
C |
10: 68,614,491 (GRCm39) |
F302S |
possibly damaging |
Het |
Tpgs2 |
A |
G |
18: 25,301,610 (GRCm39) |
L19S |
probably damaging |
Het |
Trp53bp1 |
T |
G |
2: 121,066,665 (GRCm39) |
E687A |
probably damaging |
Het |
Ttc27 |
C |
T |
17: 75,046,667 (GRCm39) |
H243Y |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,763,137 (GRCm39) |
V2318D |
possibly damaging |
Het |
Wdr59 |
G |
A |
8: 112,225,228 (GRCm39) |
P141S |
probably damaging |
Het |
Zbed6 |
C |
T |
1: 133,585,556 (GRCm39) |
V594M |
possibly damaging |
Het |
Zfp787 |
C |
A |
7: 6,135,694 (GRCm39) |
G186C |
probably damaging |
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 |
|
IGL00326:Gigyf1
|
APN |
5 |
137,517,210 (GRCm39) |
utr 5 prime |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTTTGAGAAGCATCGAAGCTCCAC -3'
(R):5'- TGCAGCGGTTCCTCTTGTAACAC -3'
Sequencing Primer
(F):5'- AGAGACACTCAACTTTGGGC -3'
(R):5'- ACTCAGAGGCAACTCACAGA -3'
|
Posted On |
2014-03-14 |