Incidental Mutation 'R6544:Gigyf1'
ID |
521010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gigyf1
|
Ensembl Gene |
ENSMUSG00000029714 |
Gene Name |
GRB10 interacting GYF protein 1 |
Synonyms |
Perq1 |
MMRRC Submission |
044670-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R6544 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137516810-137526197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 137523321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 911
(L911Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031726]
[ENSMUST00000031727]
[ENSMUST00000111020]
[ENSMUST00000111023]
[ENSMUST00000111027]
[ENSMUST00000111038]
[ENSMUST00000168746]
[ENSMUST00000170293]
[ENSMUST00000143495]
[ENSMUST00000140139]
[ENSMUST00000150063]
[ENSMUST00000132525]
[ENSMUST00000197624]
|
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: L911Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031727 Gene: ENSMUSG00000029714 AA Change: L911Q
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: 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 |
noncoding transcript
Transcript: ENSMUST00000185075
|
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 |
noncoding transcript
Transcript: ENSMUST00000142252
|
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 |
noncoding transcript
Transcript: ENSMUST00000144667
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145238
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125868
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000167225
|
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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005K14Rik |
T |
A |
1: 83,036,678 (GRCm39) |
K118* |
probably null |
Het |
Actr2 |
A |
G |
11: 20,050,933 (GRCm39) |
F17L |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,974,818 (GRCm39) |
I61M |
probably damaging |
Het |
Ahcyl |
A |
C |
16: 45,975,147 (GRCm39) |
S77A |
probably benign |
Het |
Ahnak2 |
A |
G |
12: 112,746,829 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
T |
C |
4: 98,919,675 (GRCm39) |
L145P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,871 (GRCm39) |
T808A |
probably damaging |
Het |
Ark2c |
T |
A |
18: 77,650,931 (GRCm39) |
|
probably benign |
Het |
Cadm3 |
A |
G |
1: 173,194,977 (GRCm39) |
|
probably null |
Het |
Cog7 |
C |
T |
7: 121,534,966 (GRCm39) |
R573Q |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,407,385 (GRCm39) |
I2110F |
probably damaging |
Het |
Fbxo47 |
G |
A |
11: 97,747,089 (GRCm39) |
R326C |
probably damaging |
Het |
Frmpd1 |
A |
T |
4: 45,279,024 (GRCm39) |
D583V |
probably damaging |
Het |
Gprin1 |
G |
A |
13: 54,888,124 (GRCm39) |
A50V |
possibly damaging |
Het |
Grik4 |
A |
T |
9: 42,459,024 (GRCm39) |
Y571* |
probably null |
Het |
Gucy2e |
A |
G |
11: 69,126,483 (GRCm39) |
V299A |
probably benign |
Het |
Hectd2 |
C |
T |
19: 36,589,728 (GRCm39) |
L618F |
probably damaging |
Het |
Lactbl1 |
A |
T |
4: 136,360,300 (GRCm39) |
I160F |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,577,434 (GRCm39) |
V186D |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,110,624 (GRCm39) |
H448R |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,398,113 (GRCm39) |
I502T |
probably benign |
Het |
Mok |
A |
G |
12: 110,777,189 (GRCm39) |
F239S |
probably damaging |
Het |
Mprip |
G |
A |
11: 59,648,552 (GRCm39) |
G752D |
probably benign |
Het |
Naip5 |
C |
A |
13: 100,359,652 (GRCm39) |
G528V |
possibly damaging |
Het |
Neu2 |
T |
C |
1: 87,524,464 (GRCm39) |
W150R |
probably damaging |
Het |
Or1ak2 |
T |
A |
2: 36,827,539 (GRCm39) |
M136K |
possibly damaging |
Het |
Or5an1 |
T |
C |
19: 12,260,519 (GRCm39) |
Y36H |
probably damaging |
Het |
Or5as1 |
T |
A |
2: 86,980,207 (GRCm39) |
Y266F |
probably damaging |
Het |
Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
Pip5k1c |
T |
A |
10: 81,144,830 (GRCm39) |
Y224N |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,758,399 (GRCm39) |
E5G |
probably damaging |
Het |
Pspc1 |
T |
C |
14: 57,001,660 (GRCm39) |
*59W |
probably null |
Het |
Ptprq |
T |
C |
10: 107,444,102 (GRCm39) |
T1501A |
probably damaging |
Het |
Rorb |
G |
T |
19: 18,929,614 (GRCm39) |
P304T |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,514,444 (GRCm39) |
L1110Q |
probably damaging |
Het |
Serpine2 |
C |
T |
1: 79,780,847 (GRCm39) |
|
probably null |
Het |
Slco1c1 |
A |
G |
6: 141,477,170 (GRCm39) |
|
probably null |
Het |
Smarca2 |
T |
A |
19: 26,608,331 (GRCm39) |
V130D |
probably damaging |
Het |
Sox17 |
G |
T |
1: 4,562,655 (GRCm39) |
P117T |
possibly damaging |
Het |
Sparcl1 |
A |
T |
5: 104,240,310 (GRCm39) |
Y371* |
probably null |
Het |
Tdpoz2 |
T |
C |
3: 93,559,267 (GRCm39) |
D235G |
possibly damaging |
Het |
Tns2 |
A |
C |
15: 102,022,269 (GRCm39) |
K1182N |
possibly damaging |
Het |
Tpte |
G |
T |
8: 22,805,121 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,799,503 (GRCm39) |
I459K |
possibly damaging |
Het |
Wdr97 |
T |
C |
15: 76,242,478 (GRCm39) |
Y823H |
probably benign |
Het |
Zc3h15 |
G |
A |
2: 83,491,492 (GRCm39) |
R240H |
probably benign |
Het |
Zfp455 |
C |
A |
13: 67,355,121 (GRCm39) |
L130I |
probably benign |
Het |
Zfp777 |
A |
T |
6: 48,021,419 (GRCm39) |
S68T |
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 |
|
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 |
|
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'- GATGCTAAGGTCTGGGCTTATC -3'
(R):5'- CCGCTCCAGGAATTGTTTGG -3'
Sequencing Primer
(F):5'- GGGCTTATCTGTGGCCTCC -3'
(R):5'- GCTCCAGGAATTGTTTGGCAAATTC -3'
|
Posted On |
2018-06-06 |