Incidental Mutation 'R8026:Gigyf1'
ID |
617699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gigyf1
|
Ensembl Gene |
ENSMUSG00000029714 |
Gene Name |
GRB10 interacting GYF protein 1 |
Synonyms |
Perq1 |
MMRRC Submission |
067465-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R8026 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137516810-137526197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 137523740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 1001
(H1001Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031726]
[ENSMUST00000031727]
[ENSMUST00000111020]
[ENSMUST00000111023]
[ENSMUST00000111027]
[ENSMUST00000111038]
[ENSMUST00000132525]
[ENSMUST00000140139]
[ENSMUST00000143495]
[ENSMUST00000150063]
[ENSMUST00000168746]
[ENSMUST00000170293]
|
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 damaging
Transcript: ENSMUST00000031727
AA Change: H1001Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000031727 Gene: ENSMUSG00000029714 AA Change: H1001Y
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 |
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: 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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
C |
5: 24,611,723 (GRCm39) |
V513A |
probably damaging |
Het |
Acsf2 |
C |
T |
11: 94,453,714 (GRCm39) |
V416M |
probably damaging |
Het |
Adrm1 |
G |
A |
2: 179,817,002 (GRCm39) |
A225T |
unknown |
Het |
Aldh9a1 |
T |
C |
1: 167,180,236 (GRCm39) |
|
probably null |
Het |
Apbb2 |
T |
C |
5: 66,608,987 (GRCm39) |
D220G |
probably benign |
Het |
Bace2 |
T |
C |
16: 97,238,052 (GRCm39) |
V501A |
probably benign |
Het |
Camsap1 |
T |
C |
2: 25,828,214 (GRCm39) |
N1170S |
probably benign |
Het |
Casr |
A |
G |
16: 36,315,979 (GRCm39) |
V697A |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,284,595 (GRCm39) |
|
probably null |
Het |
Cobl |
T |
C |
11: 12,203,459 (GRCm39) |
K1081R |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,633,099 (GRCm39) |
L116I |
probably damaging |
Het |
Dennd4a |
T |
C |
9: 64,780,312 (GRCm39) |
F616S |
probably damaging |
Het |
Dynlt1a |
C |
T |
17: 6,362,089 (GRCm39) |
G30S |
possibly damaging |
Het |
Eif1 |
T |
C |
11: 100,211,274 (GRCm39) |
S23P |
possibly damaging |
Het |
Eml6 |
A |
C |
11: 29,699,973 (GRCm39) |
L1721R |
possibly damaging |
Het |
Fscb |
A |
G |
12: 64,521,049 (GRCm39) |
I139T |
probably benign |
Het |
Fstl4 |
A |
G |
11: 52,959,496 (GRCm39) |
E179G |
probably damaging |
Het |
Fuom |
T |
C |
7: 139,680,067 (GRCm39) |
T95A |
|
Het |
Gm21886 |
T |
A |
18: 80,132,961 (GRCm39) |
S66C |
probably damaging |
Het |
Helz2 |
G |
A |
2: 180,881,998 (GRCm39) |
T265I |
probably benign |
Het |
Hs6st3 |
G |
T |
14: 120,106,968 (GRCm39) |
V459F |
probably damaging |
Het |
Ido2 |
A |
G |
8: 25,025,156 (GRCm39) |
|
probably null |
Het |
Idua |
A |
G |
5: 108,818,115 (GRCm39) |
I96V |
probably benign |
Het |
Iftap |
A |
T |
2: 101,400,989 (GRCm39) |
|
probably benign |
Het |
Inpp5j |
A |
G |
11: 3,445,171 (GRCm39) |
S494P |
|
Het |
Krt19 |
A |
G |
11: 100,032,209 (GRCm39) |
V285A |
probably damaging |
Het |
Krt71 |
T |
G |
15: 101,646,817 (GRCm39) |
D297A |
possibly damaging |
Het |
L3hypdh |
G |
A |
12: 72,131,723 (GRCm39) |
R70C |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,303,156 (GRCm39) |
Y324C |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,741,114 (GRCm39) |
D25G |
possibly damaging |
Het |
Mmp17 |
G |
A |
5: 129,672,148 (GRCm39) |
|
probably null |
Het |
Mroh7 |
G |
A |
4: 106,578,634 (GRCm39) |
P15S |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,417,373 (GRCm39) |
C3440S |
probably benign |
Het |
Naip5 |
C |
A |
13: 100,382,406 (GRCm39) |
S101I |
probably damaging |
Het |
Neb |
A |
T |
2: 52,113,060 (GRCm39) |
Y1066N |
|
Het |
Nop56 |
T |
A |
2: 130,119,188 (GRCm39) |
C38S |
probably benign |
Het |
Nup214 |
T |
A |
2: 31,923,362 (GRCm39) |
L1297Q |
possibly damaging |
Het |
Oasl2 |
C |
A |
5: 115,040,329 (GRCm39) |
|
probably benign |
Het |
Or4a70 |
A |
G |
2: 89,324,132 (GRCm39) |
F175L |
probably damaging |
Het |
Or4c58 |
T |
C |
2: 89,675,273 (GRCm39) |
N15D |
probably benign |
Het |
Or51b4 |
A |
G |
7: 103,530,904 (GRCm39) |
V182A |
possibly damaging |
Het |
Or52a5 |
T |
A |
7: 103,427,547 (GRCm39) |
I2F |
probably benign |
Het |
Or5h24 |
T |
C |
16: 58,918,731 (GRCm39) |
H208R |
unknown |
Het |
Or8g4 |
T |
C |
9: 39,662,092 (GRCm39) |
S137P |
possibly damaging |
Het |
Pacrg |
C |
T |
17: 10,795,496 (GRCm39) |
V155I |
probably benign |
Het |
Patz1 |
A |
T |
11: 3,257,658 (GRCm39) |
M96L |
probably benign |
Het |
Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
Ptprr |
A |
G |
10: 115,884,075 (GRCm39) |
Y44C |
probably damaging |
Het |
Rad51ap1 |
A |
G |
6: 126,911,675 (GRCm39) |
|
probably null |
Het |
Raet1e |
A |
C |
10: 22,057,198 (GRCm39) |
D174A |
probably damaging |
Het |
Rhobtb2 |
T |
G |
14: 70,034,214 (GRCm39) |
D337A |
probably benign |
Het |
Sbf2 |
T |
C |
7: 109,934,594 (GRCm39) |
K1377E |
probably damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,361,567 (GRCm39) |
K260E |
probably damaging |
Het |
Slc4a8 |
A |
T |
15: 100,685,170 (GRCm39) |
I234F |
possibly damaging |
Het |
Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
Tbxas1 |
C |
T |
6: 39,004,830 (GRCm39) |
T359I |
probably benign |
Het |
Trim9 |
T |
A |
12: 70,337,161 (GRCm39) |
S309C |
probably benign |
Het |
Ttn |
G |
A |
2: 76,659,483 (GRCm39) |
P12191S |
unknown |
Het |
Unc80 |
A |
G |
1: 66,522,463 (GRCm39) |
R222G |
possibly damaging |
Het |
Vmn1r202 |
A |
T |
13: 22,686,314 (GRCm39) |
H34Q |
possibly damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,916,141 (GRCm39) |
N251K |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,785,924 (GRCm39) |
Y694N |
probably damaging |
Het |
Vwde |
A |
G |
6: 13,205,782 (GRCm39) |
F255S |
probably benign |
Het |
Zfp532 |
T |
G |
18: 65,758,227 (GRCm39) |
I720R |
possibly damaging |
Het |
Zfp819 |
A |
G |
7: 43,267,319 (GRCm39) |
T601A |
probably benign |
Het |
Zfp853 |
G |
T |
5: 143,274,280 (GRCm39) |
Q462K |
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 |
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 |
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'- AACAATTCCTGGAGCGGAG -3'
(R):5'- AGTCATCCACGCTCTCGATC -3'
Sequencing Primer
(F):5'- CTGGAGCGGAGGGCCAAG -3'
(R):5'- GCTCTCGATCTCACCGGAAG -3'
|
Posted On |
2020-01-23 |