Incidental Mutation 'R5771:Gigyf2'
ID 445336
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 043371-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R5771 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87374050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1226 (M1226T)
Ref Sequence ENSEMBL: ENSMUSP00000133327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect possibly damaging
Transcript: ENSMUST00000027475
AA Change: M1226T

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: M1226T

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 possibly damaging
Transcript: ENSMUST00000172794
AA Change: M1220T

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: M1220T

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 probably benign
Transcript: ENSMUST00000172964
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000

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 benign
Transcript: ENSMUST00000173235
SMART Domains Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000

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 noncoding transcript
Transcript: ENSMUST00000174482
Predicted Effect possibly damaging
Transcript: ENSMUST00000174501
AA Change: M1226T

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: M1226T

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 noncoding transcript
Transcript: ENSMUST00000174671
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 95% (87/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,241,411 (GRCm39) N1091K probably damaging Het
Adam3 C T 8: 25,197,427 (GRCm39) V335I probably benign Het
AI504432 G A 3: 106,956,299 (GRCm39) noncoding transcript Het
Apcdd1 A G 18: 63,070,027 (GRCm39) Y98C probably damaging Het
Aqp9 C T 9: 71,030,146 (GRCm39) A214T probably damaging Het
Atp8b4 T C 2: 126,220,664 (GRCm39) D578G probably benign Het
Bcdin3d T C 15: 99,368,717 (GRCm39) M161V probably benign Het
Bicral C T 17: 47,136,284 (GRCm39) V309I possibly damaging Het
Ccdc88b C T 19: 6,831,203 (GRCm39) A580T probably benign Het
Cdhr2 T A 13: 54,874,508 (GRCm39) V860E probably damaging Het
Clhc1 A T 11: 29,513,854 (GRCm39) N302Y possibly damaging Het
Cnnm2 T A 19: 46,845,434 (GRCm39) probably null Het
Crebbp T C 16: 3,937,636 (GRCm39) N709S probably benign Het
Ctnnal1 T C 4: 56,826,328 (GRCm39) S512G probably benign Het
Dgcr8 C T 16: 18,090,632 (GRCm39) V581I probably benign Het
Dnaaf10 A G 11: 17,174,638 (GRCm39) T169A probably benign Het
Dnah7c G A 1: 46,678,825 (GRCm39) V1790I probably benign Het
Efl1 A G 7: 82,341,732 (GRCm39) K452E probably benign Het
Epb42 A C 2: 120,852,301 (GRCm39) V564G probably damaging Het
Etv4 G A 11: 101,662,282 (GRCm39) P335S probably damaging Het
Fbxw9 T A 8: 85,791,201 (GRCm39) probably null Het
Fcrl2 A T 3: 87,170,775 (GRCm39) L3Q probably damaging Het
Frmd8 C A 19: 5,919,478 (GRCm39) A190S probably benign Het
Gcm2 C T 13: 41,256,991 (GRCm39) D253N probably benign Het
Gfm1 T C 3: 67,342,895 (GRCm39) V143A probably benign Het
Gm10110 C T 14: 90,134,675 (GRCm39) noncoding transcript Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm20939 T G 17: 95,181,767 (GRCm39) C55W possibly damaging Het
Gm5407 T A 16: 49,117,229 (GRCm39) noncoding transcript Het
Golga4 A G 9: 118,387,351 (GRCm39) E1491G probably damaging Het
Hdac11 T A 6: 91,146,364 (GRCm39) probably null Het
Hs3st3b1 C T 11: 63,780,098 (GRCm39) S343N probably benign Het
Igkv12-44 G A 6: 69,792,075 (GRCm39) P4S probably benign Het
Igkv1-35 C T 6: 69,988,231 (GRCm39) V22I probably benign Het
Kcns2 A T 15: 34,839,068 (GRCm39) T144S probably benign Het
Khdc1c T C 1: 21,439,266 (GRCm39) V84A possibly damaging Het
Kif4-ps T A 12: 101,115,544 (GRCm39) noncoding transcript Het
Lamc2 T G 1: 153,017,340 (GRCm39) Y549S probably benign Het
Lect2 T A 13: 56,696,154 (GRCm39) I8F probably benign Het
Loxl3 T A 6: 83,012,780 (GRCm39) probably null Het
Lrwd1 A T 5: 136,152,516 (GRCm39) I545N possibly damaging Het
Ltbp3 T C 19: 5,797,572 (GRCm39) C437R probably damaging Het
Lypd3 T C 7: 24,339,787 (GRCm39) S285P probably benign Het
Mast2 T A 4: 116,190,622 (GRCm39) H83L possibly damaging Het
Mfsd4b4 A G 10: 39,768,635 (GRCm39) F153L probably benign Het
Ms4a4b T A 19: 11,438,606 (GRCm39) probably null Het
Nbr1 T A 11: 101,450,364 (GRCm39) L41Q probably damaging Het
Nlrp4a G A 7: 26,152,814 (GRCm39) C628Y probably damaging Het
Nup160 C T 2: 90,553,740 (GRCm39) R1157C probably damaging Het
Obscn T A 11: 58,891,533 (GRCm39) I7000F unknown Het
Or4k41 T A 2: 111,280,406 (GRCm39) probably null Het
Or4p21 A T 2: 88,276,652 (GRCm39) V210D possibly damaging Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Or5b122 T G 19: 13,562,872 (GRCm39) V25G probably damaging Het
Or8g2 A T 9: 39,821,546 (GRCm39) Y149F probably damaging Het
Pdilt T C 7: 119,094,217 (GRCm39) K345E probably damaging Het
Ppp1r12b A T 1: 134,701,162 (GRCm39) probably null Het
Ppp2r1b A T 9: 50,778,132 (GRCm39) Q219L probably damaging Het
Prim2 A G 1: 33,493,232 (GRCm39) S485P unknown Het
Prkdc A G 16: 15,482,097 (GRCm39) D380G probably damaging Het
Psmg1 A G 16: 95,783,369 (GRCm39) L243S probably damaging Het
Rapgef5 T A 12: 117,685,061 (GRCm39) V270D probably benign Het
Rnft1 C T 11: 86,384,032 (GRCm39) R311* probably null Het
Scaper T A 9: 55,724,075 (GRCm39) I628L probably damaging Het
Serpina3j C A 12: 104,281,185 (GRCm39) H119Q possibly damaging Het
Slamf6 G A 1: 171,745,341 (GRCm39) V23I probably damaging Het
Slc12a5 T A 2: 164,815,688 (GRCm39) M45K possibly damaging Het
Slc25a11 A C 11: 70,537,016 (GRCm39) V13G probably damaging Het
Slc7a14 T A 3: 31,292,856 (GRCm39) Y143F probably damaging Het
Spryd3 A G 15: 102,025,342 (GRCm39) probably benign Het
Stard13 C A 5: 151,113,476 (GRCm39) L28F probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Taf2 A G 15: 54,923,335 (GRCm39) V314A probably benign Het
Tas2r106 T C 6: 131,655,086 (GRCm39) N255S possibly damaging Het
Tbxa2r T A 10: 81,168,775 (GRCm39) W155R probably damaging Het
Tcf3 A G 10: 80,257,450 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,404,959 (GRCm39) D148G probably damaging Het
Vmn2r77 A G 7: 86,461,235 (GRCm39) N854D probably benign Het
Vstm4 A T 14: 32,626,526 (GRCm39) H64L probably benign Het
Wnk2 T C 13: 49,256,276 (GRCm39) T282A probably damaging Het
Zscan4c A T 7: 10,743,574 (GRCm39) D391V probably benign 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
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
R7658:Gigyf2 UTSW 1 87,346,860 (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'- CACACTTACTGCTGGGACTG -3'
(R):5'- TATCTGGTTACTGTCAGCACC -3'

Sequencing Primer
(F):5'- CCGGTCCTCTGCAAGAATAGTATG -3'
(R):5'- TGGTTACTGTCAGCACCCAAAAC -3'
Posted On 2016-11-21