Incidental Mutation 'R6784:Gigyf2'
| ID |
531540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gigyf2
|
| Ensembl Gene |
ENSMUSG00000048000 |
| Gene Name |
GRB10 interacting GYF protein 2 |
| Synonyms |
2610016F01Rik, Tnrc15, A830080H02Rik |
| MMRRC Submission |
044898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R6784 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87254720-87378518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87371396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1170
(V1170L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027475]
[ENSMUST00000172794]
[ENSMUST00000172964]
[ENSMUST00000174501]
|
| AlphaFold |
Q6Y7W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027475
AA Change: V1170L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: V1170L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
384 |
2.48e-5 |
PROSPERO |
|
internal_repeat_1
|
404 |
440 |
2.48e-5 |
PROSPERO |
|
GYF
|
535 |
590 |
2.83e-26 |
SMART |
|
low complexity region
|
620 |
667 |
N/A |
INTRINSIC |
|
coiled coil region
|
723 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1110 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1130 |
N/A |
INTRINSIC |
|
coiled coil region
|
1194 |
1223 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1246 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172794
AA Change: V1164L
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: V1164L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
338 |
378 |
2.29e-5 |
PROSPERO |
|
internal_repeat_1
|
398 |
434 |
2.29e-5 |
PROSPERO |
|
GYF
|
529 |
584 |
2.83e-26 |
SMART |
|
low complexity region
|
614 |
661 |
N/A |
INTRINSIC |
|
coiled coil region
|
717 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1090 |
1104 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1124 |
N/A |
INTRINSIC |
|
coiled coil region
|
1188 |
1217 |
N/A |
INTRINSIC |
|
low complexity region
|
1230 |
1240 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172964
AA Change: S1118I
|
| SMART Domains |
Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: S1118I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
384 |
3.03e-5 |
PROSPERO |
|
internal_repeat_1
|
404 |
440 |
3.03e-5 |
PROSPERO |
|
GYF
|
535 |
590 |
2.83e-26 |
SMART |
|
low complexity region
|
620 |
667 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
724 |
859 |
1e-2 |
SMART |
|
low complexity region
|
953 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1031 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173235
|
| SMART Domains |
Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
166 |
206 |
3.2e-5 |
PROSPERO |
|
internal_repeat_1
|
226 |
262 |
3.2e-5 |
PROSPERO |
|
GYF
|
357 |
412 |
2.83e-26 |
SMART |
|
low complexity region
|
442 |
489 |
N/A |
INTRINSIC |
|
coiled coil region
|
544 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174501
AA Change: V1170L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: V1170L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
384 |
2.48e-5 |
PROSPERO |
|
internal_repeat_1
|
404 |
440 |
2.48e-5 |
PROSPERO |
|
GYF
|
535 |
590 |
2.83e-26 |
SMART |
|
low complexity region
|
620 |
667 |
N/A |
INTRINSIC |
|
coiled coil region
|
723 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1110 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1130 |
N/A |
INTRINSIC |
|
coiled coil region
|
1194 |
1223 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1246 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1260 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.2%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality. Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
T |
6: 23,093,895 (GRCm39) |
S142N |
probably null |
Het |
| Aida |
A |
G |
1: 183,103,346 (GRCm39) |
Y275C |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,398,594 (GRCm39) |
I74T |
probably benign |
Het |
| C1ql4 |
A |
G |
15: 98,985,290 (GRCm39) |
V107A |
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,360,884 (GRCm39) |
V284A |
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,839,213 (GRCm39) |
E32G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,808,174 (GRCm39) |
D1680G |
probably damaging |
Het |
| Cog7 |
A |
T |
7: 121,563,516 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,741 (GRCm39) |
Q209L |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,319,084 (GRCm39) |
V116E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,854,890 (GRCm39) |
K1932E |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,780,926 (GRCm39) |
S2086P |
probably damaging |
Het |
| Espl1 |
C |
G |
15: 102,207,660 (GRCm39) |
R375G |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,443,275 (GRCm39) |
S526L |
possibly damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,009,133 (GRCm39) |
T41K |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,990,086 (GRCm39) |
|
probably null |
Het |
| H2bc4 |
T |
C |
13: 23,868,483 (GRCm39) |
I90T |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,322 (GRCm39) |
|
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Klra1 |
T |
C |
6: 130,349,817 (GRCm39) |
D207G |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,680,240 (GRCm39) |
N57D |
probably benign |
Het |
| Map2k4 |
T |
C |
11: 65,582,577 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
G |
T |
15: 80,096,401 (GRCm39) |
Q409H |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,892,974 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,105,396 (GRCm39) |
L1062Q |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,439,725 (GRCm39) |
K183* |
probably null |
Het |
| Npat |
G |
C |
9: 53,469,458 (GRCm39) |
D315H |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,912,766 (GRCm39) |
V63A |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,379,846 (GRCm39) |
E129D |
probably damaging |
Het |
| Or10ag2 |
C |
T |
2: 87,248,796 (GRCm39) |
R135C |
probably benign |
Het |
| Or1e29 |
T |
G |
11: 73,667,676 (GRCm39) |
H159P |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,722 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,989 (GRCm39) |
D296V |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,407,764 (GRCm39) |
Y1153C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,669,698 (GRCm39) |
D105E |
probably benign |
Het |
| Pwwp4c |
C |
T |
X: 73,684,021 (GRCm39) |
R355H |
probably damaging |
Homo |
| Rbm27 |
T |
C |
18: 42,434,929 (GRCm39) |
M331T |
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,505,710 (GRCm39) |
Y295H |
probably damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Sla2 |
C |
T |
2: 156,725,589 (GRCm39) |
S3N |
unknown |
Het |
| Slc10a6 |
A |
G |
5: 103,776,896 (GRCm39) |
I68T |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,460 (GRCm39) |
F493S |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,263,845 (GRCm39) |
Y847N |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,805,015 (GRCm39) |
|
probably null |
Het |
| Vps8 |
C |
A |
16: 21,381,957 (GRCm39) |
Q1130K |
probably benign |
Het |
|
| Other mutations in Gigyf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Gigyf2
|
APN |
1 |
87,364,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01828:Gigyf2
|
APN |
1 |
87,346,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02222:Gigyf2
|
APN |
1 |
87,338,585 (GRCm39) |
splice site |
probably null |
|
|
IGL02259:Gigyf2
|
APN |
1 |
87,339,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02562:Gigyf2
|
APN |
1 |
87,335,097 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02565:Gigyf2
|
APN |
1 |
87,369,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Gigyf2
|
APN |
1 |
87,344,549 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03264:Gigyf2
|
APN |
1 |
87,376,790 (GRCm39) |
splice site |
probably benign |
|
|
Flop
|
UTSW |
1 |
87,292,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Gigyf2
|
UTSW |
1 |
87,356,307 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4260001:Gigyf2
|
UTSW |
1 |
87,346,828 (GRCm39) |
missense |
unknown |
|
|
R0041:Gigyf2
|
UTSW |
1 |
87,306,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Gigyf2
|
UTSW |
1 |
87,339,597 (GRCm39) |
splice site |
probably benign |
|
|
R0190:Gigyf2
|
UTSW |
1 |
87,356,410 (GRCm39) |
unclassified |
probably benign |
|
|
R0244:Gigyf2
|
UTSW |
1 |
87,306,737 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0492:Gigyf2
|
UTSW |
1 |
87,368,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Gigyf2
|
UTSW |
1 |
87,349,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0612:Gigyf2
|
UTSW |
1 |
87,376,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Gigyf2
|
UTSW |
1 |
87,335,449 (GRCm39) |
splice site |
probably benign |
|
|
R0783:Gigyf2
|
UTSW |
1 |
87,334,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1445:Gigyf2
|
UTSW |
1 |
87,371,360 (GRCm39) |
splice site |
probably benign |
|
|
R1620:Gigyf2
|
UTSW |
1 |
87,376,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Gigyf2
|
UTSW |
1 |
87,344,705 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2008:Gigyf2
|
UTSW |
1 |
87,301,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2111:Gigyf2
|
UTSW |
1 |
87,368,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2112:Gigyf2
|
UTSW |
1 |
87,368,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2180:Gigyf2
|
UTSW |
1 |
87,344,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3438:Gigyf2
|
UTSW |
1 |
87,368,302 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3690:Gigyf2
|
UTSW |
1 |
87,349,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4089:Gigyf2
|
UTSW |
1 |
87,371,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Gigyf2
|
UTSW |
1 |
87,364,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4412:Gigyf2
|
UTSW |
1 |
87,364,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4489:Gigyf2
|
UTSW |
1 |
87,368,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Gigyf2
|
UTSW |
1 |
87,292,970 (GRCm39) |
nonsense |
probably null |
|
|
R4769:Gigyf2
|
UTSW |
1 |
87,368,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Gigyf2
|
UTSW |
1 |
87,282,135 (GRCm39) |
unclassified |
probably benign |
|
|
R5215:Gigyf2
|
UTSW |
1 |
87,292,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Gigyf2
|
UTSW |
1 |
87,352,860 (GRCm39) |
unclassified |
probably benign |
|
|
R5771:Gigyf2
|
UTSW |
1 |
87,374,050 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5813:Gigyf2
|
UTSW |
1 |
87,368,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5964:Gigyf2
|
UTSW |
1 |
87,334,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6026:Gigyf2
|
UTSW |
1 |
87,368,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6035:Gigyf2
|
UTSW |
1 |
87,338,450 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6035:Gigyf2
|
UTSW |
1 |
87,338,450 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6800:Gigyf2
|
UTSW |
1 |
87,346,898 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6991:Gigyf2
|
UTSW |
1 |
87,334,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Gigyf2
|
UTSW |
1 |
87,331,447 (GRCm39) |
missense |
unknown |
|
|
R7464:Gigyf2
|
UTSW |
1 |
87,356,326 (GRCm39) |
missense |
unknown |
|
|
R7554:Gigyf2
|
UTSW |
1 |
87,335,292 (GRCm39) |
missense |
unknown |
|
|
R7658:Gigyf2
|
UTSW |
1 |
87,346,860 (GRCm39) |
missense |
unknown |
|
|
R7976:Gigyf2
|
UTSW |
1 |
87,331,458 (GRCm39) |
missense |
unknown |
|
|
R8032:Gigyf2
|
UTSW |
1 |
87,334,735 (GRCm39) |
missense |
unknown |
|
|
R8070:Gigyf2
|
UTSW |
1 |
87,368,629 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8071:Gigyf2
|
UTSW |
1 |
87,374,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8519:Gigyf2
|
UTSW |
1 |
87,338,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8675:Gigyf2
|
UTSW |
1 |
87,331,438 (GRCm39) |
missense |
unknown |
|
|
R8849:Gigyf2
|
UTSW |
1 |
87,361,592 (GRCm39) |
missense |
unknown |
|
|
R8872:Gigyf2
|
UTSW |
1 |
87,307,725 (GRCm39) |
missense |
unknown |
|
|
R9184:Gigyf2
|
UTSW |
1 |
87,368,311 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9465:Gigyf2
|
UTSW |
1 |
87,334,775 (GRCm39) |
missense |
unknown |
|
|
R9502:Gigyf2
|
UTSW |
1 |
87,331,446 (GRCm39) |
missense |
unknown |
|
|
R9616:Gigyf2
|
UTSW |
1 |
87,356,326 (GRCm39) |
missense |
unknown |
|
|
R9665:Gigyf2
|
UTSW |
1 |
87,331,457 (GRCm39) |
missense |
unknown |
|
|
X0065:Gigyf2
|
UTSW |
1 |
87,339,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGAGTCTCTCCCACAGCAG -3'
(R):5'- TACACAGACATGTACTGTGAAGGAC -3'
Sequencing Primer
(F):5'- TCCCACAGCAGCTGCAGAG -3'
(R):5'- TGAAGGACACACAGATTTTGAAAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation