Incidental Mutation 'R4854:Gigyf2'
ID 373757
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 042465-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R4854 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 87282135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000164992] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect probably benign
Transcript: ENSMUST00000027475
SMART Domains Protein: ENSMUSP00000027475
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 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 benign
Transcript: ENSMUST00000164992
SMART Domains Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000

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 probably benign
Transcript: ENSMUST00000172794
SMART Domains Protein: ENSMUSP00000134077
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 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: ENSMUST00000173173
SMART Domains Protein: ENSMUSP00000134193
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 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 noncoding transcript
Transcript: ENSMUST00000173850
Predicted Effect probably benign
Transcript: ENSMUST00000174501
SMART Domains Protein: ENSMUSP00000133327
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 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: ENSMUST00000174846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174583
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (103/105)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik T A 9: 22,119,333 (GRCm39) noncoding transcript Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abl1 T C 2: 31,669,022 (GRCm39) Y110H probably damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Agbl3 G A 6: 34,762,219 (GRCm39) R73Q probably damaging Het
Agl C T 3: 116,572,267 (GRCm39) probably null Het
Amotl1 G A 9: 14,504,747 (GRCm39) Q191* probably null Het
Apbb1ip A G 2: 22,743,214 (GRCm39) K349E possibly damaging Het
Arhgap10 G A 8: 78,146,718 (GRCm39) Q229* probably null Het
Aspm C T 1: 139,405,810 (GRCm39) Q1566* probably null Het
B3gnt3 G A 8: 72,145,517 (GRCm39) R284C probably damaging Het
Bltp3b T G 10: 89,630,346 (GRCm39) V382G probably damaging Het
Brd4 A G 17: 32,439,211 (GRCm39) V423A probably damaging Het
Btbd9 A T 17: 30,743,839 (GRCm39) I221N probably damaging Het
Camp A G 9: 109,676,519 (GRCm39) V168A probably benign Het
Cd1d2 T A 3: 86,896,556 (GRCm39) probably null Het
Cdkn2d A T 9: 21,202,223 (GRCm39) V8D probably benign Het
Cimap1a A G 7: 140,429,375 (GRCm39) Y168C probably damaging Het
Clec4g T C 8: 3,766,534 (GRCm39) N256D probably damaging Het
Clspn A G 4: 126,469,743 (GRCm39) I771V probably benign Het
Cntn6 A G 6: 104,836,436 (GRCm39) E862G possibly damaging Het
Col6a5 T C 9: 105,775,950 (GRCm39) T1702A probably benign Het
Dnah7a T C 1: 53,745,888 (GRCm39) probably benign Het
Dubr T C 16: 50,552,886 (GRCm39) noncoding transcript Het
Dusp26 G A 8: 31,584,165 (GRCm39) V91M probably damaging Het
Edc4 A T 8: 106,614,557 (GRCm39) probably benign Het
F5 C T 1: 164,019,715 (GRCm39) A730V probably damaging Het
Foxf1 A G 8: 121,813,553 (GRCm39) T358A probably benign Het
Frem1 A T 4: 82,834,995 (GRCm39) N1810K possibly damaging Het
Galc A T 12: 98,223,136 (GRCm39) F87I probably damaging Het
Gars1 A G 6: 55,023,403 (GRCm39) D66G probably damaging Het
Gbp11 G A 5: 105,473,374 (GRCm39) L460F probably damaging Het
Gdf7 T C 12: 8,348,014 (GRCm39) I436V probably damaging Het
Gm12239 T C 11: 55,906,779 (GRCm39) noncoding transcript Het
Gm5592 A C 7: 40,866,895 (GRCm39) probably benign Het
Gp2 A T 7: 119,051,422 (GRCm39) D264E possibly damaging Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Grid1 A G 14: 35,043,598 (GRCm39) I318V probably benign Het
Grm2 C A 9: 106,531,331 (GRCm39) V53F possibly damaging Het
Gtpbp1 T C 15: 79,603,406 (GRCm39) S632P probably benign Het
H2-M1 A G 17: 36,980,950 (GRCm39) F329L probably benign Het
Hecw1 T A 13: 14,491,477 (GRCm39) D92V probably benign Het
Hgh1 T C 15: 76,253,382 (GRCm39) L76P probably damaging Het
Idi2 C A 13: 9,007,879 (GRCm39) N63K probably benign Het
Ift122 A G 6: 115,839,707 (GRCm39) T25A possibly damaging Het
Itgb2l A T 16: 96,227,317 (GRCm39) C575* probably null Het
Jup A G 11: 100,273,867 (GRCm39) S225P possibly damaging Het
Kcng3 A T 17: 83,895,735 (GRCm39) C244S probably damaging Het
Klhl2 T A 8: 65,287,111 (GRCm39) M46L possibly damaging Het
Ksr1 A T 11: 78,918,528 (GRCm39) I460N probably damaging Het
Lama3 T A 18: 12,544,599 (GRCm39) F314Y probably benign Het
Lbp T C 2: 158,169,438 (GRCm39) V421A possibly damaging Het
Lcp1 G A 14: 75,437,929 (GRCm39) G113D probably damaging Het
Lrp1b A T 2: 41,001,089 (GRCm39) L2045H probably damaging Het
Mbd2 G T 18: 70,701,806 (GRCm39) D107Y unknown Het
Ms4a14 C T 19: 11,287,733 (GRCm39) V96I possibly damaging Het
N4bp2l2 C T 5: 150,585,516 (GRCm39) E155K probably benign Het
Nbeal2 T G 9: 110,460,464 (GRCm39) H1790P probably damaging Het
Nsg2 G A 11: 31,981,806 (GRCm39) G84R probably benign Het
Or10ad1b A C 15: 98,125,425 (GRCm39) F34V possibly damaging Het
Or12e10 A G 2: 87,640,934 (GRCm39) T257A probably damaging Het
P2rx2 T C 5: 110,488,793 (GRCm39) N224D probably damaging Het
P2rx5 A T 11: 73,062,605 (GRCm39) E438V probably benign Het
Paip1 C A 13: 119,586,425 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,714,505 (GRCm39) V219E probably damaging Het
Ppp1r12b T C 1: 134,801,689 (GRCm39) E509G probably damaging Het
Ppp1r15a T C 7: 45,174,797 (GRCm39) S4G probably benign Het
Ppp5c T C 7: 16,742,947 (GRCm39) S224G probably benign Het
Prr30 T G 14: 101,435,879 (GRCm39) I228L probably benign Het
Purg A G 8: 33,877,342 (GRCm39) I327V possibly damaging Het
Ralb T C 1: 119,403,645 (GRCm39) T161A probably benign Het
Ripor3 T C 2: 167,834,733 (GRCm39) R253G probably benign Het
Scgb2b6 T C 7: 31,317,257 (GRCm39) noncoding transcript Het
Setd5 G T 6: 113,128,360 (GRCm39) G1438W probably damaging Het
Sh3rf3 T A 10: 58,649,545 (GRCm39) L50Q possibly damaging Het
Sipa1l2 G T 8: 126,200,340 (GRCm39) T662K probably damaging Het
Skint5 A G 4: 113,437,725 (GRCm39) L1021S unknown Het
Slc22a23 T C 13: 34,387,924 (GRCm39) S391G probably benign Het
Slc4a5 G A 6: 83,247,999 (GRCm39) V402I probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Spink5 A T 18: 44,153,908 (GRCm39) *1018C probably null Het
Stag3 T A 5: 138,294,956 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,569 (GRCm39) F410L probably damaging Het
Tmod1 A G 4: 46,090,920 (GRCm39) K158E possibly damaging Het
Tpsb2 GGCTGCTGCTGCTGCTG GGCTGCTGCTGCTG 17: 25,585,536 (GRCm39) probably benign Het
Traf4 G A 11: 78,052,346 (GRCm39) Q100* probably null Het
Trpc4 A G 3: 54,209,639 (GRCm39) Y668C probably damaging Het
Ttn T A 2: 76,597,927 (GRCm39) N11335I possibly damaging Het
Usp39 A T 6: 72,302,665 (GRCm39) V463E probably benign Het
Vmn1r6 A C 6: 56,979,683 (GRCm39) Y115S probably benign Het
Vmn2r44 A G 7: 8,383,300 (GRCm39) I98T possibly damaging Het
Zfp462 A G 4: 55,010,668 (GRCm39) Y878C probably damaging Het
Zfp474 T C 18: 52,771,503 (GRCm39) I52T possibly 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
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
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'- TCCTTTCCCAGATACATGCAGC -3'
(R):5'- CATGAAACCAAGTCTCAGAAATATGCG -3'

Sequencing Primer
(F):5'- TACATGCAGCACGGAGTTG -3'
(R):5'- ATGCGTATTTATATGCCACCCAG -3'
Posted On 2016-03-01