Incidental Mutation 'R4348:Gfy'
| ID |
328401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfy
|
| Ensembl Gene |
ENSMUSG00000095276 |
| Gene Name |
golgi-associated olfactory signaling regulator |
| Synonyms |
Goofy, Gm581 |
| MMRRC Submission |
041103-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,113,738 (GRCm39) |
F235L |
probably benign |
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 |
| Cngb3 |
G |
A |
4: 19,396,688 (GRCm39) |
R347Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,554 (GRCm39) |
C334S |
probably damaging |
Het |
| D7Ertd443e |
ACCTAGGAGGTCCT |
ACCT |
7: 133,950,682 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,536,498 (GRCm39) |
M2138K |
possibly damaging |
Het |
| Ebf2 |
T |
C |
14: 67,476,871 (GRCm39) |
I138T |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,012,736 (GRCm39) |
S784P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,556 (GRCm39) |
V422A |
probably damaging |
Het |
| Garem2 |
G |
A |
5: 30,310,366 (GRCm39) |
R26H |
possibly damaging |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Kcns3 |
T |
C |
12: 11,141,382 (GRCm39) |
N439S |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mbd1 |
G |
T |
18: 74,407,487 (GRCm39) |
R199L |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,146,339 (GRCm39) |
M183K |
probably benign |
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 |
| Ntrk2 |
A |
G |
13: 59,026,073 (GRCm39) |
K464E |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,450,649 (GRCm39) |
T127I |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,060 (GRCm39) |
I509T |
probably damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,830,646 (GRCm39) |
A475T |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,561,124 (GRCm39) |
V136A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,717,592 (GRCm39) |
S1879R |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,818,975 (GRCm39) |
Q388L |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,692 (GRCm39) |
T61S |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,138,245 (GRCm39) |
V364A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,595,109 (GRCm39) |
I20347T |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,829,466 (GRCm39) |
F477Y |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,730,165 (GRCm39) |
H423R |
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 |
|
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 |
|
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'- CCCATTTCATACCCAGGGATTC -3'
(R):5'- TCTGACTTGGAACCCAGCTC -3'
Sequencing Primer
(F):5'- TTCATACCCAGGGATTCAGATC -3'
(R):5'- GACTTGGAACCCAGCTCTAGTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation