Incidental Mutation 'R5480:Gfy'
ID434260
Institutional Source Beutler Lab
Gene Symbol Gfy
Ensembl Gene ENSMUSG00000095276
Gene Namegolgi-associated olfactory signaling regulator
SynonymsGoofy, Gm581
MMRRC Submission 043041-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5480 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location45176349-45179569 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45177233 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000042754
SMART Domains Protein: ENSMUSP00000041047
Gene: ENSMUSG00000038300

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.138 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T A 7: 28,157,999 C2257* probably null Het
Alkbh7 A G 17: 56,999,131 probably benign Het
Alpk2 A G 18: 65,349,908 L343S probably damaging Het
Btbd10 T A 7: 113,316,707 R392W probably damaging Het
Camkv A G 9: 107,946,875 D216G probably damaging Het
Col22a1 T C 15: 71,964,611 D525G probably damaging Het
Dqx1 A T 6: 83,064,803 D542V probably damaging Het
Epha8 T C 4: 136,935,130 T539A probably benign Het
Faap100 T C 11: 120,377,113 E278G probably damaging Het
Fat2 A G 11: 55,310,086 S721P probably damaging Het
Frem2 A T 3: 53,656,507 L193* probably null Het
Gipr A G 7: 19,160,654 L241P probably damaging Het
Gm5478 A G 15: 101,643,665 S445P probably damaging Het
Ift140 G T 17: 25,020,576 W69L probably damaging Het
Kat6a T A 8: 22,938,307 M1226K possibly damaging Het
Klk12 T G 7: 43,771,058 H140Q probably benign Het
Map3k14 A G 11: 103,239,504 F196L probably benign Het
Mblac2 T A 13: 81,750,276 V257E possibly damaging Het
Pcdha11 A G 18: 37,005,882 E188G probably benign Het
Pdzd7 T C 19: 45,039,285 N250S possibly damaging Het
Phkb A G 8: 85,922,182 D209G probably damaging Het
Pigs T G 11: 78,329,075 I92S possibly damaging Het
Pigz G T 16: 31,944,621 G166C probably damaging Het
Pkd1l2 C A 8: 117,030,649 R1550L probably damaging Het
Pkd2l1 A G 19: 44,192,156 V40A probably benign Het
Plxna1 A T 6: 89,324,634 M1470K probably damaging Het
Polq T A 16: 37,013,290 probably benign Het
Prune2 A G 19: 17,120,947 T1272A possibly damaging Het
Rfwd3 A T 8: 111,273,832 D720E probably damaging Het
Rgs12 C G 5: 34,966,111 Q413E probably benign Het
Rhobtb1 T A 10: 69,270,733 V376D possibly damaging Het
Rrp8 C T 7: 105,734,129 S310N probably damaging Het
S100a3 C T 3: 90,602,284 L79F probably damaging Het
Setbp1 C A 18: 78,858,063 M796I probably damaging Het
Sipa1 A G 19: 5,659,630 L254P possibly damaging Het
Slc4a7 C G 14: 14,782,138 H964Q probably damaging Het
Strc G T 2: 121,364,819 P1661Q probably benign Het
Taf5l A T 8: 124,009,820 V4E possibly damaging Het
Tbc1d15 T C 10: 115,233,218 E82G probably damaging Het
Thada A G 17: 84,432,254 S858P probably benign Het
Ticrr T C 7: 79,660,809 V157A probably damaging Het
Trim21 T C 7: 102,559,256 T419A probably benign Het
Vmn2r60 G T 7: 42,135,730 W122L probably damaging Het
Vwa3b C A 1: 37,100,706 Y369* probably null Het
Ythdf3 T C 3: 16,183,500 S2P possibly damaging Het
Other mutations in Gfy
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1696:Gfy UTSW 7 45178046 missense possibly damaging 0.94
R4348:Gfy UTSW 7 45177616 missense probably benign
R4350:Gfy UTSW 7 45177616 missense probably benign
R4351:Gfy UTSW 7 45177616 missense probably benign
R4352:Gfy UTSW 7 45177616 missense probably benign
R4604:Gfy UTSW 7 45177188 missense possibly damaging 0.76
R4847:Gfy UTSW 7 45177596 missense probably damaging 0.99
R5211:Gfy UTSW 7 45177858 missense possibly damaging 0.53
R5873:Gfy UTSW 7 45177580 missense probably damaging 0.99
R5906:Gfy UTSW 7 45177743 missense probably benign 0.02
R6819:Gfy UTSW 7 45177551 missense possibly damaging 0.46
R7202:Gfy UTSW 7 45178172 missense probably benign 0.04
R7493:Gfy UTSW 7 45178094 missense probably benign
R7532:Gfy UTSW 7 45178037 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAAGGTCTTTCTCGGGCGAG -3'
(R):5'- ATCCCTGGGTATGAAATGGGG -3'

Sequencing Primer
(F):5'- GAGCAAGCACTCACCTGGTTC -3'
(R):5'- CCTGGGTATGAAATGGGGGAGTC -3'
Posted On2016-10-06