Incidental Mutation 'IGL02090:Gigyf1'
| ID |
279437 |
| 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 # |
IGL02090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137516810-137526197 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 137523826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031726]
[ENSMUST00000031727]
[ENSMUST00000111020]
[ENSMUST00000111023]
[ENSMUST00000111027]
[ENSMUST00000111038]
[ENSMUST00000170293]
[ENSMUST00000143495]
[ENSMUST00000150063]
[ENSMUST00000132525]
[ENSMUST00000140139]
[ENSMUST00000168746]
|
| 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 |
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: 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: 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: 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 |
|
| 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace2 |
A |
G |
X: 162,968,701 (GRCm39) |
T482A |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,988,546 (GRCm39) |
I173T |
possibly damaging |
Het |
| Apoa1 |
T |
C |
9: 46,140,548 (GRCm39) |
S60P |
possibly damaging |
Het |
| Blnk |
A |
G |
19: 40,922,929 (GRCm39) |
V396A |
probably benign |
Het |
| Borcs8 |
A |
G |
8: 70,619,030 (GRCm39) |
D204G |
probably damaging |
Het |
| Calhm5 |
G |
A |
10: 33,972,261 (GRCm39) |
P58L |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,373,336 (GRCm39) |
|
probably benign |
Het |
| Cdkal1 |
T |
G |
13: 29,701,493 (GRCm39) |
I319L |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,922 (GRCm39) |
T2560S |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,464,691 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,689,932 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,866,876 (GRCm39) |
N2265S |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,240,187 (GRCm39) |
|
probably benign |
Het |
| Epgn |
G |
A |
5: 91,181,816 (GRCm39) |
G133E |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,766 (GRCm39) |
V13F |
probably benign |
Het |
| Gabarapl2 |
A |
G |
8: 112,667,831 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm6040 |
G |
A |
8: 21,407,169 (GRCm39) |
|
probably benign |
Het |
| Gm8229 |
T |
C |
14: 44,604,054 (GRCm39) |
L81P |
unknown |
Het |
| Gstz1 |
A |
G |
12: 87,210,528 (GRCm39) |
E137G |
probably benign |
Het |
| Htra1 |
T |
C |
7: 130,538,108 (GRCm39) |
V36A |
probably benign |
Het |
| Ifnlr1 |
T |
C |
4: 135,432,578 (GRCm39) |
V338A |
probably benign |
Het |
| Igsf8 |
A |
G |
1: 172,140,156 (GRCm39) |
|
probably benign |
Het |
| Khdc1a |
T |
A |
1: 21,421,212 (GRCm39) |
F132L |
probably benign |
Het |
| Kifc3 |
G |
A |
8: 95,829,108 (GRCm39) |
S561L |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,457,936 (GRCm39) |
T89A |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,111,467 (GRCm39) |
M1281K |
probably damaging |
Het |
| Or4c117 |
T |
C |
2: 88,956,021 (GRCm39) |
N18S |
probably benign |
Het |
| Or4k49 |
G |
T |
2: 111,495,333 (GRCm39) |
C254F |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,181 (GRCm39) |
I202L |
probably benign |
Het |
| Or6c66b |
T |
C |
10: 129,377,176 (GRCm39) |
Y257H |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,949,571 (GRCm39) |
G2403D |
probably damaging |
Het |
| Pdgfb |
C |
A |
15: 79,898,184 (GRCm39) |
A6S |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,021,121 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
A |
G |
2: 135,789,041 (GRCm39) |
M274V |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,074,001 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,304,041 (GRCm39) |
D458G |
possibly damaging |
Het |
| Sertad3 |
C |
T |
7: 27,175,950 (GRCm39) |
S128F |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,380,123 (GRCm39) |
L903Q |
probably damaging |
Het |
| Slc15a5 |
C |
T |
6: 138,020,598 (GRCm39) |
R245H |
probably benign |
Het |
| Slc24a5 |
A |
T |
2: 124,910,218 (GRCm39) |
T40S |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,248 (GRCm39) |
N539S |
possibly damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,489 (GRCm39) |
D825G |
probably damaging |
Het |
| Top3b |
T |
G |
16: 16,709,334 (GRCm39) |
V674G |
possibly damaging |
Het |
| Urb2 |
G |
A |
8: 124,754,976 (GRCm39) |
V228I |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,268,623 (GRCm39) |
A2061V |
possibly damaging |
Het |
| Wdr72 |
C |
A |
9: 74,062,212 (GRCm39) |
H453N |
possibly damaging |
Het |
| Xkr9 |
T |
C |
1: 13,771,600 (GRCm39) |
M372T |
probably damaging |
Het |
| Zc3h12d |
T |
G |
10: 7,743,096 (GRCm39) |
S289A |
probably benign |
Het |
| Zfp607b |
A |
T |
7: 27,398,140 (GRCm39) |
M75L |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation