Incidental Mutation 'R5211:Gfy'
| ID |
403132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfy
|
| Ensembl Gene |
ENSMUSG00000095276 |
| Gene Name |
golgi-associated olfactory signaling regulator |
| Synonyms |
Goofy, Gm581 |
| MMRRC Submission |
042785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44825773-44828993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44827282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 271
(L271F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147535
(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: L271F
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135927
Gene: ENSMUSG00000095276
AA Change: L271F
| 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 |
possibly damaging
Transcript: ENSMUST00000211004
AA Change: L271F
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211652
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,394,233 (GRCm39) |
S181P |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,733,511 (GRCm39) |
T112S |
probably benign |
Het |
| Ascc2 |
T |
C |
11: 4,623,399 (GRCm39) |
V545A |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,396,550 (GRCm39) |
S69C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,973,962 (GRCm39) |
I1378K |
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,695 (GRCm39) |
T263I |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 9,704,894 (GRCm39) |
V635D |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,731,648 (GRCm39) |
E1218G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,804,145 (GRCm39) |
I319V |
probably benign |
Het |
| Esd |
T |
C |
14: 74,978,632 (GRCm39) |
S65P |
probably damaging |
Het |
| Exoc1l |
C |
A |
5: 76,664,250 (GRCm39) |
T113K |
possibly damaging |
Het |
| Fstl3 |
A |
T |
10: 79,616,012 (GRCm39) |
Q166L |
probably benign |
Het |
| Garin1a |
A |
T |
6: 29,286,098 (GRCm39) |
K128* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,757,371 (GRCm39) |
S2445T |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,284 (GRCm39) |
V66A |
possibly damaging |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Itm2c |
T |
A |
1: 85,834,249 (GRCm39) |
V188E |
probably damaging |
Het |
| Jmjd1c |
C |
G |
10: 67,067,795 (GRCm39) |
S1766C |
probably damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,428,538 (GRCm39) |
T255A |
probably benign |
Het |
| Kdm4d |
A |
C |
9: 14,374,400 (GRCm39) |
V486G |
probably benign |
Het |
| Krt18 |
T |
G |
15: 101,939,888 (GRCm39) |
I362S |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Ly6f |
G |
A |
15: 75,143,652 (GRCm39) |
V120M |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,451,321 (GRCm39) |
V1524A |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,889 (GRCm39) |
V43A |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,348,633 (GRCm39) |
M269L |
probably damaging |
Het |
| Myrfl |
C |
T |
10: 116,634,535 (GRCm39) |
V620I |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,783,381 (GRCm39) |
C908Y |
probably damaging |
Het |
| Nyap2 |
T |
A |
1: 81,064,991 (GRCm39) |
M1K |
probably null |
Het |
| Olfml3 |
A |
T |
3: 103,644,515 (GRCm39) |
H51Q |
probably benign |
Het |
| Or11h6 |
C |
T |
14: 50,880,710 (GRCm39) |
T324I |
possibly damaging |
Het |
| Pcdhb1 |
G |
A |
18: 37,399,704 (GRCm39) |
V552I |
probably benign |
Het |
| Pm20d1 |
T |
A |
1: 131,734,647 (GRCm39) |
I353N |
possibly damaging |
Het |
| Sbk2 |
A |
G |
7: 4,965,966 (GRCm39) |
F73L |
possibly damaging |
Het |
| Scn10a |
A |
C |
9: 119,490,298 (GRCm39) |
L548R |
possibly damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,204,117 (GRCm39) |
Y68C |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,707,093 (GRCm39) |
V611A |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,769,814 (GRCm39) |
M164V |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,041,626 (GRCm39) |
S43G |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,723,651 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,746,257 (GRCm39) |
Y535C |
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 |
|
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'- GTACGTGCAGCTCTTTGGTC -3'
(R):5'- AGAGTCTAAGATACCAAGTCCCAG -3'
Sequencing Primer
(F):5'- TCCCTGGGGAATCTGAGG -3'
(R):5'- TAGAGACCTACGACCCCAGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation