Incidental Mutation 'IGL02562:Gigyf2'
ID |
298711 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gigyf2
|
Ensembl Gene |
ENSMUSG00000048000 |
Gene Name |
GRB10 interacting GYF protein 2 |
Synonyms |
2610016F01Rik, Tnrc15, A830080H02Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.939)
|
Stock # |
IGL02562
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
87254720-87378518 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87335097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 120
(D120G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134086
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027475]
[ENSMUST00000164992]
[ENSMUST00000172736]
[ENSMUST00000172794]
[ENSMUST00000172964]
[ENSMUST00000173148]
[ENSMUST00000173152]
[ENSMUST00000173173]
[ENSMUST00000174501]
[ENSMUST00000173663]
[ENSMUST00000174334]
|
AlphaFold |
Q6Y7W8 |
Predicted Effect |
unknown
Transcript: ENSMUST00000027475
AA Change: D339G
|
SMART Domains |
Protein: ENSMUSP00000027475 Gene: ENSMUSG00000048000 AA Change: D339G
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 |
probably benign
Transcript: ENSMUST00000164992
AA Change: D282G
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129046 Gene: ENSMUSG00000048000 AA Change: D282G
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
low complexity region
|
99 |
129 |
N/A |
INTRINSIC |
low complexity region
|
190 |
228 |
N/A |
INTRINSIC |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
GYF
|
478 |
533 |
2.83e-26 |
SMART |
low complexity region
|
563 |
610 |
N/A |
INTRINSIC |
coiled coil region
|
666 |
721 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172736
AA Change: D141G
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134620 Gene: ENSMUSG00000048000 AA Change: D141G
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
87 |
N/A |
INTRINSIC |
low complexity region
|
132 |
143 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000172794
AA Change: D333G
|
SMART Domains |
Protein: ENSMUSP00000134077 Gene: ENSMUSG00000048000 AA Change: D333G
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: D339G
|
SMART Domains |
Protein: ENSMUSP00000133392 Gene: ENSMUSG00000048000 AA Change: D339G
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: ENSMUST00000173148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173152
AA Change: D120G
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134086 Gene: ENSMUSG00000048000 AA Change: D120G
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
66 |
N/A |
INTRINSIC |
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173173
AA Change: D333G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000134193 Gene: ENSMUSG00000048000 AA Change: D333G
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 |
GYF
|
528 |
583 |
2.83e-26 |
SMART |
low complexity region
|
613 |
660 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
717 |
852 |
1e-3 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000174501
AA Change: D339G
|
SMART Domains |
Protein: ENSMUSP00000133327 Gene: ENSMUSG00000048000 AA Change: D339G
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 |
unknown
Transcript: ENSMUST00000173235
AA Change: D160G
|
SMART Domains |
Protein: ENSMUSP00000134677 Gene: ENSMUSG00000048000 AA Change: D160G
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 |
noncoding transcript
Transcript: ENSMUST00000174535
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173663
|
SMART Domains |
Protein: ENSMUSP00000133416 Gene: ENSMUSG00000048000
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
60 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174334
|
SMART Domains |
Protein: ENSMUSP00000133666 Gene: ENSMUSG00000048000
Domain | Start | End | E-Value | Type |
low complexity region
|
77 |
84 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173636
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,144,949 (GRCm39) |
C33R |
probably damaging |
Het |
Aifm3 |
A |
G |
16: 17,324,126 (GRCm39) |
N562S |
probably benign |
Het |
Akap14 |
G |
A |
X: 36,427,441 (GRCm39) |
T98M |
possibly damaging |
Het |
Atp7b |
T |
G |
8: 22,518,101 (GRCm39) |
T234P |
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,715,057 (GRCm39) |
Q65L |
probably benign |
Het |
Bclaf3 |
T |
C |
X: 158,349,434 (GRCm39) |
S600P |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Col4a5 |
A |
G |
X: 140,439,671 (GRCm39) |
|
probably benign |
Het |
Gm4953 |
A |
T |
1: 158,996,077 (GRCm39) |
|
noncoding transcript |
Het |
Hip1r |
G |
T |
5: 124,129,586 (GRCm39) |
|
probably benign |
Het |
Itga2 |
A |
G |
13: 114,973,106 (GRCm39) |
|
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,619 (GRCm39) |
T85A |
probably benign |
Het |
Loxl1 |
A |
G |
9: 58,196,199 (GRCm39) |
S607P |
probably damaging |
Het |
Marchf2 |
G |
A |
17: 33,915,048 (GRCm39) |
T182I |
probably damaging |
Het |
Mbd1 |
T |
C |
18: 74,409,993 (GRCm39) |
S386P |
probably benign |
Het |
Meis2 |
C |
A |
2: 115,879,627 (GRCm39) |
G231V |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,496,053 (GRCm39) |
K774E |
probably benign |
Het |
Or10a2 |
C |
A |
7: 106,673,769 (GRCm39) |
H245N |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,237 (GRCm39) |
N109S |
probably benign |
Het |
Or2l5 |
A |
T |
16: 19,333,714 (GRCm39) |
I224N |
possibly damaging |
Het |
Or51ag1 |
G |
T |
7: 103,155,423 (GRCm39) |
C243* |
probably null |
Het |
Or8u9 |
T |
G |
2: 86,001,384 (GRCm39) |
Y259S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,778,405 (GRCm39) |
D1813E |
probably damaging |
Het |
Pdcl2 |
A |
G |
5: 76,467,038 (GRCm39) |
Y52H |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,223,502 (GRCm39) |
T816A |
probably benign |
Het |
Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
Pwwp3a |
A |
G |
10: 80,074,729 (GRCm39) |
D438G |
probably damaging |
Het |
S2bpcox16 |
T |
C |
12: 81,557,616 (GRCm39) |
D63G |
probably damaging |
Het |
Slc7a2 |
T |
A |
8: 41,368,057 (GRCm39) |
M607K |
probably damaging |
Het |
Snrpa |
T |
A |
7: 26,891,123 (GRCm39) |
K116M |
probably damaging |
Het |
Spon1 |
A |
G |
7: 113,635,996 (GRCm39) |
S737G |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Sspo |
A |
G |
6: 48,467,056 (GRCm39) |
|
probably null |
Het |
Tubb4a |
C |
A |
17: 57,388,163 (GRCm39) |
E288* |
probably null |
Het |
Vmn2r87 |
A |
T |
10: 130,314,513 (GRCm39) |
C358S |
probably damaging |
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 |
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 |
R6784:Gigyf2
|
UTSW |
1 |
87,371,396 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |