Incidental Mutation 'R7658:Gigyf2'
ID 591313
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 045703-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R7658 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87346860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 620 (L620F)
Ref Sequence ENSEMBL: ENSMUSP00000027475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000164992] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect unknown
Transcript: ENSMUST00000027475
AA Change: L620F
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: L620F

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
low complexity region 99 132 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 247 285 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
internal_repeat_1 344 384 2.48e-5 PROSPERO
internal_repeat_1 404 440 2.48e-5 PROSPERO
GYF 535 590 2.83e-26 SMART
low complexity region 620 667 N/A INTRINSIC
coiled coil region 723 1037 N/A INTRINSIC
low complexity region 1096 1110 N/A INTRINSIC
low complexity region 1119 1130 N/A INTRINSIC
coiled coil region 1194 1223 N/A INTRINSIC
low complexity region 1236 1246 N/A INTRINSIC
low complexity region 1254 1260 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164992
AA Change: L563F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000
AA Change: L563F

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
low complexity region 99 129 N/A INTRINSIC
low complexity region 190 228 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
GYF 478 533 2.83e-26 SMART
low complexity region 563 610 N/A INTRINSIC
coiled coil region 666 721 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172794
AA Change: L614F
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: L614F

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
low complexity region 99 132 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 241 279 N/A INTRINSIC
low complexity region 324 335 N/A INTRINSIC
internal_repeat_1 338 378 2.29e-5 PROSPERO
internal_repeat_1 398 434 2.29e-5 PROSPERO
GYF 529 584 2.83e-26 SMART
low complexity region 614 661 N/A INTRINSIC
coiled coil region 717 1031 N/A INTRINSIC
low complexity region 1090 1104 N/A INTRINSIC
low complexity region 1113 1124 N/A INTRINSIC
coiled coil region 1188 1217 N/A INTRINSIC
low complexity region 1230 1240 N/A INTRINSIC
low complexity region 1248 1254 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172964
AA Change: L620F
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: L620F

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
low complexity region 99 132 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 247 285 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
internal_repeat_1 344 384 3.03e-5 PROSPERO
internal_repeat_1 404 440 3.03e-5 PROSPERO
GYF 535 590 2.83e-26 SMART
low complexity region 620 667 N/A INTRINSIC
SCOP:d1eq1a_ 724 859 1e-2 SMART
low complexity region 953 972 N/A INTRINSIC
low complexity region 1008 1031 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173173
AA Change: L613F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000
AA Change: L613F

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
low complexity region 99 132 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 241 279 N/A INTRINSIC
low complexity region 324 335 N/A INTRINSIC
GYF 528 583 2.83e-26 SMART
low complexity region 613 660 N/A INTRINSIC
SCOP:d1eq1a_ 717 852 1e-3 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000
AA Change: L441F

DomainStartEndE-ValueType
low complexity region 69 107 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
internal_repeat_1 166 206 3.2e-5 PROSPERO
internal_repeat_1 226 262 3.2e-5 PROSPERO
GYF 357 412 2.83e-26 SMART
low complexity region 442 489 N/A INTRINSIC
coiled coil region 544 745 N/A INTRINSIC
low complexity region 775 786 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173636
AA Change: I225L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect unknown
Transcript: ENSMUST00000174501
AA Change: L620F
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: L620F

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
low complexity region 99 132 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 247 285 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
internal_repeat_1 344 384 2.48e-5 PROSPERO
internal_repeat_1 404 440 2.48e-5 PROSPERO
GYF 535 590 2.83e-26 SMART
low complexity region 620 667 N/A INTRINSIC
coiled coil region 723 1037 N/A INTRINSIC
low complexity region 1096 1110 N/A INTRINSIC
low complexity region 1119 1130 N/A INTRINSIC
coiled coil region 1194 1223 N/A INTRINSIC
low complexity region 1236 1246 N/A INTRINSIC
low complexity region 1254 1260 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality. Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik G T 16: 88,860,618 (GRCm39) S72Y unknown Het
Abca8b T A 11: 109,826,543 (GRCm39) K1568N probably benign Het
Adcy6 T A 15: 98,493,948 (GRCm39) Y865F probably benign Het
Adgrf3 A T 5: 30,402,204 (GRCm39) V608D probably benign Het
Agbl1 G T 7: 76,416,117 (GRCm39) A965S unknown Het
Agbl3 C T 6: 34,809,443 (GRCm39) P690L probably benign Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Amt A C 9: 108,174,430 (GRCm39) H65P probably damaging Het
Ankrd11 T A 8: 123,620,403 (GRCm39) T1150S probably benign Het
Arhgap15 A C 2: 44,032,280 (GRCm39) H288P probably benign Het
Arhgap39 A T 15: 76,621,617 (GRCm39) M328K probably benign Het
Arhgef12 T C 9: 42,903,832 (GRCm39) K743R probably damaging Het
Atg2a T G 19: 6,301,293 (GRCm39) V789G probably damaging Het
Ccdc54 T C 16: 50,410,844 (GRCm39) T141A probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdh5 T C 8: 104,856,033 (GRCm39) probably null Het
Cdkl3 T C 11: 51,918,009 (GRCm39) V404A not run Het
Chrm2 A T 6: 36,500,184 (GRCm39) I14F probably benign Het
Cnbp T C 6: 87,822,258 (GRCm39) K89E possibly damaging Het
Cntn6 T A 6: 104,627,444 (GRCm39) D92E probably benign Het
Col15a1 T C 4: 47,245,591 (GRCm39) F114S possibly damaging Het
Csrnp1 A G 9: 119,801,469 (GRCm39) F530S probably benign Het
Dcun1d3 C T 7: 119,456,891 (GRCm39) V274M probably damaging Het
Dph2 T A 4: 117,747,478 (GRCm39) H302L possibly damaging Het
Fam162a A T 16: 35,866,770 (GRCm39) Y118* probably null Het
Fam186a A G 15: 99,837,725 (GRCm39) Y2840H unknown Het
Fto A G 8: 92,392,950 (GRCm39) K466E probably benign Het
Gal T A 19: 3,463,309 (GRCm39) Y41F probably damaging Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Glud1 A T 14: 34,033,114 (GRCm39) E87V probably benign Het
Gm21190 T G 5: 15,732,923 (GRCm39) E94A possibly damaging Het
Gm5592 T C 7: 40,938,134 (GRCm39) V472A probably benign Het
Gpc5 T A 14: 115,665,620 (GRCm39) N481K possibly damaging Het
Gpn2 A G 4: 133,318,687 (GRCm39) E304G probably benign Het
Gsdmc2 T C 15: 63,696,903 (GRCm39) T423A probably damaging Het
Gucy2e G A 11: 69,117,055 (GRCm39) Q789* probably null Het
Gxylt2 T A 6: 100,760,104 (GRCm39) V213E probably damaging Het
Ighv1-75 G A 12: 115,797,731 (GRCm39) L64F possibly damaging Het
Il17re T C 6: 113,435,943 (GRCm39) C30R probably benign Het
Il7 G T 3: 7,669,142 (GRCm39) D31E probably benign Het
Ints4 T C 7: 97,178,460 (GRCm39) Y687H possibly damaging Het
Kdelr1 T G 7: 45,532,401 (GRCm39) V202G probably benign Het
Khnyn C A 14: 56,124,596 (GRCm39) Y283* probably null Het
Klf11 T C 12: 24,703,670 (GRCm39) V52A probably damaging Het
Klhl7 A G 5: 24,346,284 (GRCm39) N310S probably benign Het
Krt27 A T 11: 99,240,312 (GRCm39) L202Q possibly damaging Het
Lce1d A G 3: 92,593,354 (GRCm39) C20R unknown Het
Lim2 A T 7: 43,083,054 (GRCm39) I80F possibly damaging Het
Lrrk2 T A 15: 91,584,561 (GRCm39) F326Y possibly damaging Het
Lyst A T 13: 13,905,061 (GRCm39) Y3246F possibly damaging Het
Mafb T A 2: 160,208,355 (GRCm39) H81L possibly damaging Het
Mfsd5 G A 15: 102,189,312 (GRCm39) R228H probably benign Het
Mmp1b A T 9: 7,386,675 (GRCm39) F150I possibly damaging Het
Mthfd1 T A 12: 76,317,209 (GRCm39) L20Q probably damaging Het
Mxra8 A G 4: 155,927,420 (GRCm39) T402A probably benign Het
Ndc80 A T 17: 71,815,658 (GRCm39) L376M probably damaging Het
Nsd1 A T 13: 55,425,452 (GRCm39) R1536S probably damaging Het
Nup210l C A 3: 90,119,300 (GRCm39) H1874Q probably benign Het
Nyap1 T C 5: 137,731,236 (GRCm39) H776R probably benign Het
Patj C A 4: 98,576,416 (GRCm39) H1773Q probably damaging Het
Pax8 T A 2: 24,326,523 (GRCm39) T280S probably benign Het
Pcdhb19 A G 18: 37,632,034 (GRCm39) T610A probably damaging Het
Pde2a A G 7: 101,160,788 (GRCm39) D919G possibly damaging Het
Pdk2 T A 11: 94,919,791 (GRCm39) Y240F probably damaging Het
Peg3 A T 7: 6,712,609 (GRCm39) I871N probably damaging Het
Pex1 A T 5: 3,646,244 (GRCm39) probably benign Het
Pgm2l1 C T 7: 99,899,535 (GRCm39) R50W probably damaging Het
Phkg1 T A 5: 129,894,764 (GRCm39) K262N probably damaging Het
Pik3r4 A G 9: 105,521,710 (GRCm39) E92G probably damaging Het
Prmt6 A T 3: 110,157,701 (GRCm39) V196E possibly damaging Het
Ptprn2 T G 12: 116,685,739 (GRCm39) M66R probably benign Het
Rai14 C T 15: 10,593,189 (GRCm39) G152R probably damaging Het
Recql5 A T 11: 115,814,102 (GRCm39) S348T probably damaging Het
Rfk T G 19: 17,376,046 (GRCm39) probably null Het
Ro60 T C 1: 143,646,611 (GRCm39) T45A probably damaging Het
Selenbp1 A T 3: 94,851,413 (GRCm39) M389L probably benign Het
Sipa1l2 G A 8: 126,219,029 (GRCm39) R103C probably benign Het
Slc10a6 T A 5: 103,777,056 (GRCm39) S15C probably damaging Het
Slc12a2 G T 18: 58,065,596 (GRCm39) V944L probably benign Het
Slc16a11 T A 11: 70,106,143 (GRCm39) L127Q possibly damaging Het
Spef1l T C 7: 139,556,531 (GRCm39) N152S probably benign Het
St6gal1 A G 16: 23,174,978 (GRCm39) Y272C probably damaging Het
Stab2 C A 10: 86,816,999 (GRCm39) V133F probably benign Het
Stradb G A 1: 59,031,885 (GRCm39) V266I probably damaging Het
Tmem150b A G 7: 4,723,758 (GRCm39) W140R probably benign Het
Tnnt3 A T 7: 142,065,833 (GRCm39) K157* probably null Het
Ttn T G 2: 76,554,113 (GRCm39) K30863N probably damaging Het
Vldlr G A 19: 27,220,536 (GRCm39) R592H probably benign Het
Vmn1r12 A T 6: 57,135,883 (GRCm39) probably benign Het
Vmn2r63 A C 7: 42,574,693 (GRCm39) S519R probably damaging Het
Zbtb22 G C 17: 34,137,471 (GRCm39) E539Q probably damaging Het
Zbtb44 G A 9: 30,965,375 (GRCm39) A262T probably benign Het
Zfp280d A T 9: 72,231,354 (GRCm39) N455I probably damaging Het
Zfp287 T C 11: 62,616,089 (GRCm39) N201D probably damaging Het
Zfp988 T C 4: 147,416,751 (GRCm39) L395P probably damaging Het
Other mutations in Gigyf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Gigyf2 APN 1 87,364,572 (GRCm39) missense probably damaging 0.99
IGL01828:Gigyf2 APN 1 87,346,820 (GRCm39) missense probably damaging 1.00
IGL02222:Gigyf2 APN 1 87,338,585 (GRCm39) splice site probably null
IGL02259:Gigyf2 APN 1 87,339,559 (GRCm39) missense probably damaging 1.00
IGL02562:Gigyf2 APN 1 87,335,097 (GRCm39) missense probably benign 0.15
IGL02565:Gigyf2 APN 1 87,369,858 (GRCm39) missense probably damaging 1.00
IGL02695:Gigyf2 APN 1 87,344,549 (GRCm39) missense probably benign 0.07
IGL03264:Gigyf2 APN 1 87,376,790 (GRCm39) splice site probably benign
Flop UTSW 1 87,292,988 (GRCm39) missense probably damaging 1.00
FR4449:Gigyf2 UTSW 1 87,356,307 (GRCm39) unclassified probably benign
PIT4260001:Gigyf2 UTSW 1 87,346,828 (GRCm39) missense unknown
R0041:Gigyf2 UTSW 1 87,306,698 (GRCm39) missense probably damaging 1.00
R0126:Gigyf2 UTSW 1 87,339,597 (GRCm39) splice site probably benign
R0190:Gigyf2 UTSW 1 87,356,410 (GRCm39) unclassified probably benign
R0244:Gigyf2 UTSW 1 87,306,737 (GRCm39) missense possibly damaging 0.96
R0492:Gigyf2 UTSW 1 87,368,568 (GRCm39) missense probably damaging 1.00
R0526:Gigyf2 UTSW 1 87,349,215 (GRCm39) missense probably benign 0.00
R0612:Gigyf2 UTSW 1 87,376,802 (GRCm39) missense probably damaging 1.00
R0731:Gigyf2 UTSW 1 87,335,449 (GRCm39) splice site probably benign
R0783:Gigyf2 UTSW 1 87,334,883 (GRCm39) missense probably damaging 0.99
R1445:Gigyf2 UTSW 1 87,371,360 (GRCm39) splice site probably benign
R1620:Gigyf2 UTSW 1 87,376,850 (GRCm39) missense probably damaging 1.00
R1678:Gigyf2 UTSW 1 87,344,705 (GRCm39) missense probably benign 0.44
R2008:Gigyf2 UTSW 1 87,301,835 (GRCm39) critical splice donor site probably null
R2111:Gigyf2 UTSW 1 87,368,452 (GRCm39) missense probably damaging 0.99
R2112:Gigyf2 UTSW 1 87,368,452 (GRCm39) missense probably damaging 0.99
R2180:Gigyf2 UTSW 1 87,344,642 (GRCm39) missense probably damaging 1.00
R3438:Gigyf2 UTSW 1 87,368,302 (GRCm39) missense probably damaging 0.96
R3690:Gigyf2 UTSW 1 87,349,238 (GRCm39) missense possibly damaging 0.80
R4089:Gigyf2 UTSW 1 87,371,394 (GRCm39) missense probably damaging 1.00
R4411:Gigyf2 UTSW 1 87,364,582 (GRCm39) missense probably damaging 1.00
R4412:Gigyf2 UTSW 1 87,364,582 (GRCm39) missense probably damaging 1.00
R4489:Gigyf2 UTSW 1 87,368,548 (GRCm39) missense probably damaging 1.00
R4743:Gigyf2 UTSW 1 87,292,970 (GRCm39) nonsense probably null
R4769:Gigyf2 UTSW 1 87,368,571 (GRCm39) missense probably damaging 1.00
R4854:Gigyf2 UTSW 1 87,282,135 (GRCm39) unclassified probably benign
R5215:Gigyf2 UTSW 1 87,292,988 (GRCm39) missense probably damaging 1.00
R5326:Gigyf2 UTSW 1 87,352,860 (GRCm39) unclassified probably benign
R5771:Gigyf2 UTSW 1 87,374,050 (GRCm39) missense possibly damaging 0.90
R5813:Gigyf2 UTSW 1 87,368,485 (GRCm39) missense probably damaging 0.99
R5964:Gigyf2 UTSW 1 87,334,889 (GRCm39) missense probably damaging 1.00
R6026:Gigyf2 UTSW 1 87,368,454 (GRCm39) missense probably damaging 0.99
R6035:Gigyf2 UTSW 1 87,338,450 (GRCm39) missense possibly damaging 0.93
R6035:Gigyf2 UTSW 1 87,338,450 (GRCm39) missense possibly damaging 0.93
R6784:Gigyf2 UTSW 1 87,371,396 (GRCm39) missense probably damaging 1.00
R6800:Gigyf2 UTSW 1 87,346,898 (GRCm39) missense possibly damaging 0.68
R6991:Gigyf2 UTSW 1 87,334,858 (GRCm39) missense probably damaging 1.00
R7224:Gigyf2 UTSW 1 87,331,447 (GRCm39) missense unknown
R7464:Gigyf2 UTSW 1 87,356,326 (GRCm39) missense unknown
R7554:Gigyf2 UTSW 1 87,335,292 (GRCm39) missense unknown
R7976:Gigyf2 UTSW 1 87,331,458 (GRCm39) missense unknown
R8032:Gigyf2 UTSW 1 87,334,735 (GRCm39) missense unknown
R8070:Gigyf2 UTSW 1 87,368,629 (GRCm39) missense probably benign 0.03
R8071:Gigyf2 UTSW 1 87,374,155 (GRCm39) missense probably damaging 0.99
R8519:Gigyf2 UTSW 1 87,338,431 (GRCm39) missense probably benign 0.01
R8675:Gigyf2 UTSW 1 87,331,438 (GRCm39) missense unknown
R8849:Gigyf2 UTSW 1 87,361,592 (GRCm39) missense unknown
R8872:Gigyf2 UTSW 1 87,307,725 (GRCm39) missense unknown
R9184:Gigyf2 UTSW 1 87,368,311 (GRCm39) missense possibly damaging 0.95
R9465:Gigyf2 UTSW 1 87,334,775 (GRCm39) missense unknown
R9502:Gigyf2 UTSW 1 87,331,446 (GRCm39) missense unknown
R9616:Gigyf2 UTSW 1 87,356,326 (GRCm39) missense unknown
R9665:Gigyf2 UTSW 1 87,331,457 (GRCm39) missense unknown
X0065:Gigyf2 UTSW 1 87,339,589 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTAGGTGGCATTGCTTGG -3'
(R):5'- ACGTCACTAGTAGGCTACTCAAG -3'

Sequencing Primer
(F):5'- TTTGAAGGGCACAAGTTTGGAG -3'
(R):5'- GAATCACAGAAGCCTTGAGTTCTC -3'
Posted On 2019-11-12