Incidental Mutation 'IGL03370:Gigyf1'
| ID |
420269 |
| 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 non essential
(E-score: 0.470)
|
| Stock # |
IGL03370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137516810-137526197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 137523952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1041
(V1041L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031726]
[ENSMUST00000031727]
[ENSMUST00000111020]
[ENSMUST00000111023]
[ENSMUST00000111027]
[ENSMUST00000111038]
[ENSMUST00000170293]
[ENSMUST00000140139]
[ENSMUST00000143495]
[ENSMUST00000150063]
[ENSMUST00000168746]
[ENSMUST00000132525]
|
| AlphaFold |
Q99MR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031726
|
| SMART Domains |
Protein: ENSMUSP00000031726
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
3.96e-3 |
SMART |
|
WD40
|
132 |
170 |
1.57e-6 |
SMART |
|
WD40
|
173 |
212 |
2.98e-7 |
SMART |
|
WD40
|
215 |
254 |
2.1e-7 |
SMART |
|
WD40
|
257 |
298 |
1.72e-3 |
SMART |
|
WD40
|
301 |
340 |
2.04e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031727
AA Change: V1041L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031727
Gene: ENSMUSG00000029714
AA Change: V1041L
| 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: ENSMUST00000111020
|
| SMART Domains |
Protein: ENSMUSP00000106649
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
2.65e-4 |
SMART |
|
WD40
|
42 |
81 |
3.96e-3 |
SMART |
|
WD40
|
88 |
126 |
1.57e-6 |
SMART |
|
WD40
|
129 |
168 |
2.98e-7 |
SMART |
|
WD40
|
171 |
210 |
2.1e-7 |
SMART |
|
WD40
|
213 |
254 |
1.72e-3 |
SMART |
|
WD40
|
257 |
296 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111023
|
| SMART Domains |
Protein: ENSMUSP00000106652
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
2.65e-4 |
SMART |
|
WD40
|
42 |
81 |
3.96e-3 |
SMART |
|
WD40
|
88 |
126 |
1.57e-6 |
SMART |
|
WD40
|
129 |
168 |
2.98e-7 |
SMART |
|
WD40
|
171 |
210 |
2.1e-7 |
SMART |
|
WD40
|
213 |
254 |
1.72e-3 |
SMART |
|
WD40
|
257 |
296 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111027
|
| SMART Domains |
Protein: ENSMUSP00000106656
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
59 |
N/A |
INTRINSIC |
|
WD40
|
86 |
125 |
1.05e-7 |
SMART |
|
WD40
|
128 |
167 |
3.96e-3 |
SMART |
|
WD40
|
174 |
212 |
1.57e-6 |
SMART |
|
WD40
|
215 |
254 |
2.98e-7 |
SMART |
|
WD40
|
257 |
296 |
2.1e-7 |
SMART |
|
WD40
|
299 |
340 |
1.72e-3 |
SMART |
|
WD40
|
343 |
382 |
2.04e-5 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000125868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170293
|
| SMART Domains |
Protein: ENSMUSP00000128038
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
2.65e-4 |
SMART |
|
WD40
|
42 |
81 |
3.96e-3 |
SMART |
|
WD40
|
88 |
126 |
1.57e-6 |
SMART |
|
WD40
|
129 |
168 |
2.98e-7 |
SMART |
|
WD40
|
171 |
210 |
2.1e-7 |
SMART |
|
WD40
|
213 |
254 |
1.72e-3 |
SMART |
|
WD40
|
257 |
296 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140139
|
| SMART Domains |
Protein: ENSMUSP00000121942
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
3.96e-3 |
SMART |
|
WD40
|
132 |
170 |
1.57e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143495
|
| SMART Domains |
Protein: ENSMUSP00000126823
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
1 |
25 |
3.8e-3 |
PFAM |
|
WD40
|
32 |
70 |
1.57e-6 |
SMART |
|
WD40
|
73 |
112 |
2.98e-7 |
SMART |
|
WD40
|
115 |
154 |
2.1e-7 |
SMART |
|
WD40
|
157 |
198 |
1.72e-3 |
SMART |
|
WD40
|
201 |
240 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150063
|
| SMART Domains |
Protein: ENSMUSP00000129353
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
3.96e-3 |
SMART |
|
WD40
|
132 |
170 |
1.57e-6 |
SMART |
|
WD40
|
173 |
212 |
2.98e-7 |
SMART |
|
WD40
|
215 |
254 |
2.1e-7 |
SMART |
|
WD40
|
257 |
298 |
1.72e-3 |
SMART |
|
WD40
|
301 |
340 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168746
|
| SMART Domains |
Protein: ENSMUSP00000132908
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
1 |
25 |
3.8e-3 |
PFAM |
|
WD40
|
32 |
70 |
1.57e-6 |
SMART |
|
WD40
|
73 |
112 |
2.98e-7 |
SMART |
|
WD40
|
115 |
154 |
2.1e-7 |
SMART |
|
WD40
|
157 |
198 |
1.72e-3 |
SMART |
|
WD40
|
201 |
240 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132525
|
| SMART Domains |
Protein: ENSMUSP00000119725
Gene: ENSMUSG00000029713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
3.96e-3 |
SMART |
|
WD40
|
132 |
170 |
1.57e-6 |
SMART |
|
WD40
|
173 |
212 |
2.98e-7 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
A |
G |
4: 56,741,173 (GRCm39) |
Y62H |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,829,881 (GRCm39) |
I296T |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,351,937 (GRCm39) |
|
probably null |
Het |
| Daam2 |
G |
T |
17: 49,793,529 (GRCm39) |
D329E |
probably benign |
Het |
| Defb26 |
A |
G |
2: 152,349,902 (GRCm39) |
V126A |
probably benign |
Het |
| Fasn |
A |
T |
11: 120,703,621 (GRCm39) |
I1535N |
possibly damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,384,219 (GRCm39) |
Y431N |
probably benign |
Het |
| Fbxw26 |
T |
G |
9: 109,575,087 (GRCm39) |
I13L |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,710,301 (GRCm39) |
H300L |
probably damaging |
Het |
| Fndc3c1 |
G |
A |
X: 105,464,307 (GRCm39) |
T1277I |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,742,946 (GRCm39) |
R567H |
probably benign |
Het |
| Kpna6 |
G |
A |
4: 129,549,314 (GRCm39) |
T156M |
probably damaging |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Lyn |
T |
C |
4: 3,780,931 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,297,219 (GRCm39) |
V2605A |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,437,385 (GRCm39) |
D1023G |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,418,514 (GRCm39) |
R3820L |
probably benign |
Het |
| Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
A |
G |
2: 30,230,653 (GRCm39) |
Y1397C |
possibly damaging |
Het |
| Pgd |
A |
T |
4: 149,249,685 (GRCm39) |
V29D |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,071,371 (GRCm39) |
S244G |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,694,294 (GRCm39) |
T372K |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,520,306 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,586,944 (GRCm39) |
V2680E |
possibly damaging |
Het |
| Sgsm3 |
A |
C |
15: 80,895,855 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
C |
T |
15: 96,477,228 (GRCm39) |
V362I |
possibly damaging |
Het |
| Sun1 |
T |
A |
5: 139,216,886 (GRCm39) |
D308E |
probably damaging |
Het |
| Tns1 |
C |
T |
1: 74,025,053 (GRCm39) |
V387M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,582,083 (GRCm39) |
G22937C |
probably damaging |
Het |
| Ubr1 |
C |
A |
2: 120,725,641 (GRCm39) |
A1258S |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,607,265 (GRCm39) |
F153L |
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 |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation