Incidental Mutation 'IGL00230:Gigyf1'
ID2397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gigyf1
Ensembl Gene ENSMUSG00000029714
Gene NameGRB10 interacting GYF protein 1
SynonymsPerq1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.462) question?
Stock #IGL00230
Quality Score
Status
Chromosome5
Chromosomal Location137518548-137527935 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 137522745 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031727] [ENSMUST00000111038] [ENSMUST00000197624]
Predicted Effect unknown
Transcript: ENSMUST00000031727
AA Change: E518G
SMART Domains Protein: ENSMUSP00000031727
Gene: ENSMUSG00000029714
AA Change: E518G

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 69 87 N/A INTRINSIC
low complexity region 114 129 N/A INTRINSIC
low complexity region 253 269 N/A INTRINSIC
low complexity region 323 352 N/A INTRINSIC
low complexity region 360 379 N/A INTRINSIC
coiled coil region 424 450 N/A INTRINSIC
GYF 477 532 1.6e-25 SMART
low complexity region 534 543 N/A INTRINSIC
low complexity region 553 576 N/A INTRINSIC
low complexity region 597 613 N/A INTRINSIC
coiled coil region 671 735 N/A INTRINSIC
low complexity region 748 759 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
low complexity region 848 877 N/A INTRINSIC
low complexity region 881 893 N/A INTRINSIC
coiled coil region 957 984 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111038
SMART Domains Protein: ENSMUSP00000106667
Gene: ENSMUSG00000029711

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:EPO_TPO 30 191 2.8e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197624
SMART Domains Protein: ENSMUSP00000143670
Gene: ENSMUSG00000029714

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 69 87 N/A INTRINSIC
low complexity region 114 129 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,420,107 A215V probably damaging Het
Cyp2j6 C T 4: 96,536,046 R158H possibly damaging Het
Dnaaf2 T C 12: 69,196,766 D507G probably benign Het
Fam13b T C 18: 34,487,096 E245G possibly damaging Het
Gal3st1 A T 11: 3,999,070 probably benign Het
Galnt5 A T 2: 57,998,973 Q195L probably benign Het
Gfm2 A G 13: 97,155,442 T229A probably benign Het
Gm4353 G T 7: 116,083,554 T264K probably damaging Het
Gsk3b A T 16: 38,228,707 I389F probably benign Het
Hist1h2bm G T 13: 21,722,375 R93L possibly damaging Het
Htt A G 5: 34,799,408 T194A probably benign Het
Ighg3 T C 12: 113,359,837 Y273C unknown Het
Kdm5b T A 1: 134,620,955 V1066D probably damaging Het
Kif1a G T 1: 93,054,934 A707E probably damaging Het
Maats1 A G 16: 38,336,342 probably null Het
Mars A G 10: 127,298,006 M674T probably benign Het
Mas1 T C 17: 12,841,990 D182G probably benign Het
Metap1d T A 2: 71,512,162 D178E probably damaging Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Ninl T C 2: 150,966,241 E289G probably damaging Het
Pmel G T 10: 128,716,089 G264V possibly damaging Het
Ruvbl1 T C 6: 88,484,403 probably benign Het
Scn8a T A 15: 100,955,532 probably benign Het
Sept9 T C 11: 117,354,804 probably benign Het
Sgpp1 G T 12: 75,716,194 Y404* probably null Het
Sgsm1 T C 5: 113,245,064 I788V probably benign Het
Slc13a4 A T 6: 35,289,824 M112K probably benign Het
Slc22a29 T C 19: 8,217,813 M153V probably benign Het
Slc9c1 T G 16: 45,573,389 V565G possibly damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tec C T 5: 72,768,768 A314T probably damaging Het
Tg A G 15: 66,827,290 I803V probably benign Het
Trav9-1 A T 14: 53,488,393 I55F probably benign Het
Ttll12 C A 15: 83,578,656 E536D probably benign Het
Ubqln1 C A 13: 58,177,992 E152* probably null Het
Wwtr1 G A 3: 57,463,491 T338I probably benign Het
Zdhhc16 T C 19: 41,939,660 F206S probably benign Het
Other mutations in Gigyf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Gigyf1 APN 5 137518948 utr 5 prime probably benign
IGL00935:Gigyf1 APN 5 137524834 missense possibly damaging 0.95
IGL01717:Gigyf1 APN 5 137525691 missense probably damaging 1.00
IGL02090:Gigyf1 APN 5 137525564 splice site probably null
IGL02354:Gigyf1 APN 5 137519727 splice site probably benign
IGL02361:Gigyf1 APN 5 137519727 splice site probably benign
IGL03370:Gigyf1 APN 5 137525690 missense possibly damaging 0.93
PIT4354001:Gigyf1 UTSW 5 137524104 missense unknown
R1415:Gigyf1 UTSW 5 137519216 splice site probably null
R1764:Gigyf1 UTSW 5 137522508 unclassified probably benign
R2259:Gigyf1 UTSW 5 137520332 missense possibly damaging 0.93
R2260:Gigyf1 UTSW 5 137520332 missense possibly damaging 0.93
R4656:Gigyf1 UTSW 5 137525215 nonsense probably null
R4717:Gigyf1 UTSW 5 137525232 missense probably damaging 1.00
R4732:Gigyf1 UTSW 5 137524770 missense probably benign 0.39
R4733:Gigyf1 UTSW 5 137524770 missense probably benign 0.39
R4942:Gigyf1 UTSW 5 137525690 missense possibly damaging 0.93
R5338:Gigyf1 UTSW 5 137523160 unclassified probably benign
R5503:Gigyf1 UTSW 5 137523467 unclassified probably benign
R5790:Gigyf1 UTSW 5 137524255 unclassified probably benign
R5888:Gigyf1 UTSW 5 137525697 missense probably damaging 1.00
R5955:Gigyf1 UTSW 5 137523507 splice site probably null
R6544:Gigyf1 UTSW 5 137525059 missense probably damaging 1.00
R7227:Gigyf1 UTSW 5 137523823 missense unknown
R7493:Gigyf1 UTSW 5 137525533 missense probably damaging 0.98
R7660:Gigyf1 UTSW 5 137520969 missense probably benign 0.23
R7959:Gigyf1 UTSW 5 137524319 missense probably damaging 1.00
R8026:Gigyf1 UTSW 5 137525478 missense probably damaging 1.00
R8159:Gigyf1 UTSW 5 137522195 missense unknown
R8552:Gigyf1 UTSW 5 137523139 unclassified probably benign
Posted On2011-12-09