Incidental Mutation 'R4656:Gigyf1'
ID |
352425 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gigyf1
|
Ensembl Gene |
ENSMUSG00000029714 |
Gene Name |
GRB10 interacting GYF protein 1 |
Synonyms |
Perq1 |
MMRRC Submission |
041916-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R4656 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137516810-137526197 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 137523477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 936
(Y936*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031726]
[ENSMUST00000031727]
[ENSMUST00000111020]
[ENSMUST00000111023]
[ENSMUST00000111027]
[ENSMUST00000111038]
[ENSMUST00000170293]
[ENSMUST00000140139]
[ENSMUST00000197624]
[ENSMUST00000168746]
[ENSMUST00000143495]
[ENSMUST00000150063]
[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 |
probably null
Transcript: ENSMUST00000031727
AA Change: Y936*
|
SMART Domains |
Protein: ENSMUSP00000031727 Gene: ENSMUSG00000029714 AA Change: Y936*
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: ENSMUST00000145238
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144667
|
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: 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 |
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: 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (80/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
G |
A |
5: 88,112,534 (GRCm39) |
|
probably benign |
Het |
4931406B18Rik |
T |
A |
7: 43,150,565 (GRCm39) |
H69L |
probably benign |
Het |
Ace2 |
T |
C |
X: 162,936,110 (GRCm39) |
S84P |
probably benign |
Het |
Adgb |
A |
C |
10: 10,281,050 (GRCm39) |
N656K |
probably damaging |
Het |
Ago3 |
G |
T |
4: 126,257,545 (GRCm39) |
Y495* |
probably null |
Het |
Ahnak |
G |
A |
19: 8,982,219 (GRCm39) |
V1168M |
possibly damaging |
Het |
Armc10 |
A |
G |
5: 21,866,548 (GRCm39) |
R271G |
probably benign |
Het |
Atp4a |
T |
G |
7: 30,419,373 (GRCm39) |
|
probably benign |
Het |
Casp1 |
C |
T |
9: 5,304,324 (GRCm39) |
P333S |
probably damaging |
Het |
Ceacam9 |
C |
T |
7: 16,457,574 (GRCm39) |
A34V |
probably benign |
Het |
Ces1b |
C |
G |
8: 93,784,042 (GRCm39) |
E488Q |
probably damaging |
Het |
Ces2h |
A |
T |
8: 105,741,271 (GRCm39) |
T88S |
possibly damaging |
Het |
Cfap410 |
G |
A |
10: 77,817,450 (GRCm39) |
R59H |
probably benign |
Het |
Col2a1 |
C |
T |
15: 97,874,057 (GRCm39) |
G1375D |
unknown |
Het |
Cyp1a1 |
T |
C |
9: 57,609,893 (GRCm39) |
F436L |
probably damaging |
Het |
Dcaf7 |
T |
C |
11: 105,944,624 (GRCm39) |
V269A |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,621,044 (GRCm39) |
L592P |
probably damaging |
Het |
Eda2r |
T |
A |
X: 96,385,239 (GRCm39) |
Q171L |
probably damaging |
Het |
Egln2 |
A |
G |
7: 26,858,618 (GRCm39) |
V408A |
probably benign |
Het |
Gabpb2 |
A |
G |
3: 95,096,252 (GRCm39) |
L325P |
probably damaging |
Het |
Gm14149 |
A |
T |
2: 151,072,684 (GRCm39) |
|
noncoding transcript |
Het |
Gnl2 |
C |
T |
4: 124,934,790 (GRCm39) |
Q149* |
probably null |
Het |
Gpr107 |
C |
T |
2: 31,104,261 (GRCm39) |
T522M |
probably damaging |
Het |
Grpr |
T |
A |
X: 162,297,992 (GRCm39) |
S351C |
probably damaging |
Het |
Gsdma |
T |
C |
11: 98,563,907 (GRCm39) |
L287P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,301,993 (GRCm39) |
T652A |
probably damaging |
Het |
Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
Irx2 |
T |
C |
13: 72,779,417 (GRCm39) |
S234P |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,921,725 (GRCm39) |
D808E |
probably damaging |
Het |
Krt13 |
C |
A |
11: 100,010,189 (GRCm39) |
R264L |
probably damaging |
Het |
Marchf1 |
T |
A |
8: 66,839,071 (GRCm39) |
L38I |
probably benign |
Het |
Megf9 |
T |
C |
4: 70,367,004 (GRCm39) |
H326R |
probably damaging |
Het |
Mif4gd |
G |
T |
11: 115,499,163 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,893,593 (GRCm39) |
M194K |
probably damaging |
Het |
Nhlrc3 |
A |
G |
3: 53,370,501 (GRCm39) |
S22P |
probably damaging |
Het |
Nipal2 |
A |
T |
15: 34,577,714 (GRCm39) |
|
probably null |
Het |
Nr1h4 |
A |
G |
10: 89,334,115 (GRCm39) |
S78P |
probably benign |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Olfr908 |
A |
T |
9: 38,427,852 (GRCm39) |
N175Y |
probably damaging |
Het |
Or1e30 |
A |
T |
11: 73,678,337 (GRCm39) |
D191V |
probably damaging |
Het |
Or52d13 |
C |
T |
7: 103,109,695 (GRCm39) |
R235Q |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,385,797 (GRCm39) |
V991A |
probably benign |
Het |
Pex1 |
G |
A |
5: 3,654,880 (GRCm39) |
|
probably null |
Het |
Plch1 |
G |
T |
3: 63,611,598 (GRCm39) |
A859E |
probably damaging |
Het |
Pramel32 |
T |
C |
4: 88,548,202 (GRCm39) |
T68A |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,289,244 (GRCm39) |
K84R |
possibly damaging |
Het |
Rbm14 |
T |
C |
19: 4,861,463 (GRCm39) |
Y25C |
probably damaging |
Het |
Rmi2 |
A |
G |
16: 10,653,186 (GRCm39) |
D78G |
probably damaging |
Het |
Serpina3k |
C |
A |
12: 104,311,532 (GRCm39) |
T370K |
probably damaging |
Het |
Shc2 |
A |
T |
10: 79,457,003 (GRCm39) |
L538M |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,878,674 (GRCm39) |
K202R |
probably damaging |
Het |
Slc22a29 |
C |
A |
19: 8,195,664 (GRCm39) |
S125I |
possibly damaging |
Het |
Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
A |
T |
1: 96,768,970 (GRCm39) |
D297E |
probably benign |
Het |
Slco6d1 |
T |
C |
1: 98,350,928 (GRCm39) |
F136S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,812,174 (GRCm39) |
V39E |
probably benign |
Het |
Spns1 |
G |
T |
7: 125,973,474 (GRCm39) |
|
probably benign |
Het |
Spsb1 |
A |
G |
4: 149,990,867 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
G |
6: 48,431,010 (GRCm39) |
I631S |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,078,147 (GRCm39) |
L4694P |
probably damaging |
Het |
Taf5l |
T |
C |
8: 124,724,844 (GRCm39) |
E325G |
probably benign |
Het |
Tars1 |
A |
T |
15: 11,394,350 (GRCm39) |
S96T |
probably damaging |
Het |
Tdrd12 |
T |
C |
7: 35,184,679 (GRCm39) |
K745E |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,746,761 (GRCm39) |
Y1015H |
probably damaging |
Het |
Trpv3 |
T |
A |
11: 73,186,240 (GRCm39) |
M677K |
probably damaging |
Het |
Txlnb |
A |
T |
10: 17,691,024 (GRCm39) |
K191N |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,756,494 (GRCm39) |
V711A |
probably benign |
Het |
Uqcrb |
T |
C |
13: 67,049,603 (GRCm39) |
T41A |
probably benign |
Het |
Usp6nl |
A |
G |
2: 6,445,973 (GRCm39) |
Y627C |
probably damaging |
Het |
Vezf1 |
A |
G |
11: 87,965,493 (GRCm39) |
D245G |
probably damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,661,204 (GRCm39) |
W9R |
possibly damaging |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
Wrn |
A |
T |
8: 33,826,019 (GRCm39) |
|
probably null |
Het |
Zfy1 |
T |
G |
Y: 729,626 (GRCm39) |
T339P |
unknown |
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 |
|
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 |
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'- CAGTGGTGTGAGCAAATGC -3'
(R):5'- CTGAAAGGCTGTCTGTAGGGAG -3'
Sequencing Primer
(F):5'- ATGCTGCACACCCTGAGC -3'
(R):5'- TCAGCCAGGCCTCCTAAG -3'
|
Posted On |
2015-10-08 |