Incidental Mutation 'R4351:Gfy'
| ID |
328509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfy
|
| Ensembl Gene |
ENSMUSG00000095276 |
| Gene Name |
golgi-associated olfactory signaling regulator |
| Synonyms |
Goofy, Gm581 |
| MMRRC Submission |
041106-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4351 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44825773-44828993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44827040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 352
(E352G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042754]
[ENSMUST00000085374]
[ENSMUST00000179443]
[ENSMUST00000209634]
[ENSMUST00000210086]
[ENSMUST00000211004]
|
| AlphaFold |
J3KML8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042754
|
| SMART Domains |
Protein: ENSMUSP00000041047
Gene: ENSMUSG00000038300
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:TIP39
|
49 |
99 |
5e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085374
|
| SMART Domains |
Protein: ENSMUSP00000082489
Gene: ENSMUSG00000070570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
68 |
453 |
9.3e-49 |
PFAM |
|
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179443
AA Change: E352G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135927
Gene: ENSMUSG00000095276
AA Change: E352G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
|
SCOP:d1fftc1
|
399 |
431 |
5e-4 |
SMART |
|
low complexity region
|
470 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197423
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211652
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display short olfactory epithelium (OE) cilia, reduced odorant induced local field potentials in the OE and impaired olfaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,912,519 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,986,258 (GRCm39) |
T82A |
probably benign |
Het |
| Ak6 |
C |
T |
13: 100,792,111 (GRCm39) |
Q185* |
probably null |
Het |
| Aldh6a1 |
A |
G |
12: 84,490,535 (GRCm39) |
Y27H |
probably benign |
Het |
| Apob |
A |
G |
12: 8,043,054 (GRCm39) |
M812V |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 15,041,145 (GRCm39) |
S748* |
probably null |
Het |
| Brd3 |
A |
T |
2: 27,347,028 (GRCm39) |
Y369N |
probably damaging |
Het |
| Cracdl |
A |
G |
1: 37,663,993 (GRCm39) |
F635S |
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,099 (GRCm39) |
|
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,881,542 (GRCm39) |
V200A |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Evx1 |
A |
G |
6: 52,290,846 (GRCm39) |
D6G |
probably damaging |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,275,701 (GRCm39) |
D115V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or2v2 |
A |
G |
11: 49,004,530 (GRCm39) |
S8P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,630,865 (GRCm39) |
M114K |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,373,794 (GRCm39) |
T269A |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,344,939 (GRCm39) |
Y49C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,332,638 (GRCm39) |
L1921P |
probably damaging |
Het |
|
| Other mutations in Gfy |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1696:Gfy
|
UTSW |
7 |
44,827,470 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4348:Gfy
|
UTSW |
7 |
44,827,040 (GRCm39) |
missense |
probably benign |
|
|
R4350:Gfy
|
UTSW |
7 |
44,827,040 (GRCm39) |
missense |
probably benign |
|
|
R4352:Gfy
|
UTSW |
7 |
44,827,040 (GRCm39) |
missense |
probably benign |
|
|
R4604:Gfy
|
UTSW |
7 |
44,826,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4847:Gfy
|
UTSW |
7 |
44,827,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5211:Gfy
|
UTSW |
7 |
44,827,282 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5480:Gfy
|
UTSW |
7 |
44,826,657 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5873:Gfy
|
UTSW |
7 |
44,827,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5906:Gfy
|
UTSW |
7 |
44,827,167 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6819:Gfy
|
UTSW |
7 |
44,826,975 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7202:Gfy
|
UTSW |
7 |
44,827,596 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7493:Gfy
|
UTSW |
7 |
44,827,518 (GRCm39) |
missense |
probably benign |
|
|
R7532:Gfy
|
UTSW |
7 |
44,827,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7575:Gfy
|
UTSW |
7 |
44,827,524 (GRCm39) |
missense |
probably benign |
|
|
R7586:Gfy
|
UTSW |
7 |
44,826,962 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8247:Gfy
|
UTSW |
7 |
44,827,710 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8343:Gfy
|
UTSW |
7 |
44,826,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8880:Gfy
|
UTSW |
7 |
44,827,784 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9464:Gfy
|
UTSW |
7 |
44,827,251 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9510:Gfy
|
UTSW |
7 |
44,828,090 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9629:Gfy
|
UTSW |
7 |
44,827,785 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1177:Gfy
|
UTSW |
7 |
44,825,888 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTTCATACCCAGGGATTCAG -3'
(R):5'- TCTGACTTGGAACCCAGCTC -3'
Sequencing Primer
(F):5'- TTCATACCCAGGGATTCAGATCTAC -3'
(R):5'- GACTTGGAACCCAGCTCTAGTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation