Incidental Mutation 'PIT4354001:Gigyf1'
| ID |
554814 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4354001 (G1)
|
| Quality Score |
172.116 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137516810-137526197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137522366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 728
(K728R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031726]
[ENSMUST00000031727]
[ENSMUST00000111020]
[ENSMUST00000111023]
[ENSMUST00000111027]
[ENSMUST00000111038]
[ENSMUST00000132525]
[ENSMUST00000143495]
[ENSMUST00000150063]
[ENSMUST00000168746]
[ENSMUST00000170293]
[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 |
unknown
Transcript: ENSMUST00000031727
AA Change: K728R
|
| SMART Domains |
Protein: ENSMUSP00000031727
Gene: ENSMUSG00000029714
AA Change: K728R
| 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: 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 |
|
| 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: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
| Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
| Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
| Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
| Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
| Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
| Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
| Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
| Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
| Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
| Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
| Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
| Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
| Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
| Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
| Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
| Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
| Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCAACTGCAGCATAAAG -3'
(R):5'- AGAGTCTTCATGGACAGGCC -3'
Sequencing Primer
(F):5'- TCCAACTGCAGCATAAAGTAAGTAG -3'
(R):5'- TTCATGGACAGGCCCTGCTTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation