Incidental Mutation 'R5480:Gfy'
ID |
434260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gfy
|
Ensembl Gene |
ENSMUSG00000095276 |
Gene Name |
golgi-associated olfactory signaling regulator |
Synonyms |
Goofy, Gm581 |
MMRRC Submission |
043041-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5480 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44825773-44828993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44826657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 394
(V394F)
|
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: V394F
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135927 Gene: ENSMUSG00000095276 AA Change: V394F
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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
Validation Efficiency |
97% (56/58) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
Camkv |
A |
G |
9: 107,824,074 (GRCm39) |
D216G |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
Map3k14 |
A |
G |
11: 103,130,330 (GRCm39) |
F196L |
probably benign |
Het |
Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
Pigz |
G |
T |
16: 31,763,439 (GRCm39) |
G166C |
probably damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,180,595 (GRCm39) |
V40A |
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
Rgs12 |
C |
G |
5: 35,123,455 (GRCm39) |
Q413E |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
Sipa1 |
A |
G |
19: 5,709,658 (GRCm39) |
L254P |
possibly damaging |
Het |
Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
Taf5l |
A |
T |
8: 124,736,559 (GRCm39) |
V4E |
possibly damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
Trim21 |
T |
C |
7: 102,208,463 (GRCm39) |
T419A |
probably benign |
Het |
Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly 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 |
|
R4351: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 |
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'- TAAGGTCTTTCTCGGGCGAG -3'
(R):5'- ATCCCTGGGTATGAAATGGGG -3'
Sequencing Primer
(F):5'- GAGCAAGCACTCACCTGGTTC -3'
(R):5'- CCTGGGTATGAAATGGGGGAGTC -3'
|
Posted On |
2016-10-06 |