Incidental Mutation 'R1415:Gigyf1'
ID 159772
Institutional Source Beutler Lab
Gene Symbol Gigyf1
Ensembl Gene ENSMUSG00000029714
Gene Name GRB10 interacting GYF protein 1
Synonyms Perq1
MMRRC Submission 039471-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R1415 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 137516810-137526197 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 137517478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031727] [ENSMUST00000111038] [ENSMUST00000197624]
AlphaFold Q99MR1
Predicted Effect probably null
Transcript: ENSMUST00000031727
SMART Domains Protein: ENSMUSP00000031727
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
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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197762
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,303,982 (GRCm39) V135A probably benign Het
Adam21 C T 12: 81,606,321 (GRCm39) W480* probably null Het
Ccdc71 T A 9: 108,340,407 (GRCm39) Y73* probably null Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Dnajb11 T C 16: 22,689,371 (GRCm39) V264A probably benign Het
Fam135b T C 15: 71,328,777 (GRCm39) E1174G probably damaging Het
Fam83e G A 7: 45,376,135 (GRCm39) E283K probably damaging Het
Letm1 A T 5: 33,926,906 (GRCm39) N130K probably benign Het
Lrp1b T C 2: 40,519,676 (GRCm39) Y137C probably damaging Het
Map3k2 A G 18: 32,361,330 (GRCm39) I597V possibly damaging Het
Nek1 A G 8: 61,542,720 (GRCm39) E770G probably benign Het
Or4d2b A C 11: 87,780,473 (GRCm39) V83G possibly damaging Het
Or52n2b A G 7: 104,565,543 (GRCm39) I320T probably benign Het
Pank2 T A 2: 131,124,638 (GRCm39) Y68* probably null Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Secisbp2l C A 2: 125,582,285 (GRCm39) G1057V probably benign Het
Slc30a2 C T 4: 134,076,660 (GRCm39) T265M probably damaging Het
Smarca2 A G 19: 26,688,084 (GRCm39) E1239G probably null Het
Snx30 C T 4: 59,879,261 (GRCm39) R167C probably damaging Het
Tmem26 T C 10: 68,614,491 (GRCm39) F302S possibly damaging Het
Tpgs2 A G 18: 25,301,610 (GRCm39) L19S probably damaging Het
Trp53bp1 T G 2: 121,066,665 (GRCm39) E687A probably damaging Het
Ttc27 C T 17: 75,046,667 (GRCm39) H243Y probably benign Het
Wdfy4 A T 14: 32,763,137 (GRCm39) V2318D possibly damaging Het
Wdr59 G A 8: 112,225,228 (GRCm39) P141S probably damaging Het
Zbed6 C T 1: 133,585,556 (GRCm39) V594M possibly damaging Het
Zfp787 C A 7: 6,135,694 (GRCm39) G186C probably damaging Het
Other mutations in Gigyf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Gigyf1 APN 5 137,521,007 (GRCm39) unclassified probably benign
IGL00326:Gigyf1 APN 5 137,517,210 (GRCm39) utr 5 prime probably benign
IGL00935:Gigyf1 APN 5 137,523,096 (GRCm39) missense possibly damaging 0.95
IGL01717:Gigyf1 APN 5 137,523,953 (GRCm39) missense probably damaging 1.00
IGL02090:Gigyf1 APN 5 137,523,826 (GRCm39) splice site probably null
IGL02354:Gigyf1 APN 5 137,517,989 (GRCm39) splice site probably benign
IGL02361:Gigyf1 APN 5 137,517,989 (GRCm39) splice site probably benign
IGL03370:Gigyf1 APN 5 137,523,952 (GRCm39) missense possibly damaging 0.93
PIT4354001:Gigyf1 UTSW 5 137,522,366 (GRCm39) missense unknown
R1764:Gigyf1 UTSW 5 137,520,770 (GRCm39) unclassified probably benign
R2259:Gigyf1 UTSW 5 137,518,594 (GRCm39) missense possibly damaging 0.93
R2260:Gigyf1 UTSW 5 137,518,594 (GRCm39) missense possibly damaging 0.93
R4656:Gigyf1 UTSW 5 137,523,477 (GRCm39) nonsense probably null
R4717:Gigyf1 UTSW 5 137,523,494 (GRCm39) missense probably damaging 1.00
R4732:Gigyf1 UTSW 5 137,523,032 (GRCm39) missense probably benign 0.39
R4733:Gigyf1 UTSW 5 137,523,032 (GRCm39) missense probably benign 0.39
R4942:Gigyf1 UTSW 5 137,523,952 (GRCm39) missense possibly damaging 0.93
R5338:Gigyf1 UTSW 5 137,521,422 (GRCm39) unclassified probably benign
R5503:Gigyf1 UTSW 5 137,521,729 (GRCm39) unclassified probably benign
R5790:Gigyf1 UTSW 5 137,522,517 (GRCm39) unclassified probably benign
R5888:Gigyf1 UTSW 5 137,523,959 (GRCm39) missense probably damaging 1.00
R5955:Gigyf1 UTSW 5 137,521,769 (GRCm39) splice site probably null
R6544:Gigyf1 UTSW 5 137,523,321 (GRCm39) missense probably damaging 1.00
R7227:Gigyf1 UTSW 5 137,522,085 (GRCm39) missense unknown
R7493:Gigyf1 UTSW 5 137,523,795 (GRCm39) missense probably damaging 0.98
R7660:Gigyf1 UTSW 5 137,519,231 (GRCm39) missense probably benign 0.23
R7959:Gigyf1 UTSW 5 137,522,581 (GRCm39) missense probably damaging 1.00
R8026:Gigyf1 UTSW 5 137,523,740 (GRCm39) missense probably damaging 1.00
R8159:Gigyf1 UTSW 5 137,520,457 (GRCm39) missense unknown
R8552:Gigyf1 UTSW 5 137,521,401 (GRCm39) unclassified probably benign
R8936:Gigyf1 UTSW 5 137,523,469 (GRCm39) missense probably damaging 0.99
R9622:Gigyf1 UTSW 5 137,522,926 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTTTGAGAAGCATCGAAGCTCCAC -3'
(R):5'- TGCAGCGGTTCCTCTTGTAACAC -3'

Sequencing Primer
(F):5'- AGAGACACTCAACTTTGGGC -3'
(R):5'- ACTCAGAGGCAACTCACAGA -3'
Posted On 2014-03-14