Incidental Mutation 'R5813:Gigyf2'
ID 447588
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R5813 (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 87368485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1055 (I1055T)
Ref Sequence ENSEMBL: ENSMUSP00000133392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect possibly damaging
Transcript: ENSMUST00000027475
AA Change: I1055T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: I1055T

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: ENSMUST00000172794
AA Change: I1049T

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: I1049T

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 damaging
Transcript: ENSMUST00000172964
AA Change: I1055T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: I1055T

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: I1055T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: I1055T

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 A G 3: 89,253,135 (GRCm39) Y230H probably benign Het
Ano7 G T 1: 93,312,641 (GRCm39) probably null Het
Arap2 T C 5: 62,834,506 (GRCm39) Y792C probably damaging Het
Art3 C A 5: 92,560,100 (GRCm39) probably benign Het
Atad2 C T 15: 57,963,250 (GRCm39) G1085D probably benign Het
Birc6 C A 17: 74,953,497 (GRCm39) A3253E probably damaging Het
C9 C T 15: 6,526,607 (GRCm39) P547L probably benign Het
Cecr2 T C 6: 120,739,169 (GRCm39) S1271P probably damaging Het
Ces1e T A 8: 93,948,305 (GRCm39) K105* probably null Het
Cpsf4 A G 5: 145,115,683 (GRCm39) N204S probably benign Het
Cracd A G 5: 77,006,275 (GRCm39) T879A unknown Het
Dgkz T C 2: 91,769,733 (GRCm39) D615G possibly damaging Het
Disp1 G T 1: 182,869,974 (GRCm39) N815K probably damaging Het
Enah A G 1: 181,758,750 (GRCm39) probably benign Het
Fcgbp A G 7: 27,800,919 (GRCm39) T1322A possibly damaging Het
Frem1 A G 4: 82,918,395 (GRCm39) F516L probably damaging Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Fyco1 T C 9: 123,660,413 (GRCm39) Y190C probably damaging Het
Gfra1 T C 19: 58,227,687 (GRCm39) D417G probably benign Het
Invs A G 4: 48,398,146 (GRCm39) E444G probably damaging Het
Itga10 A G 3: 96,559,901 (GRCm39) T519A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm2b A G 5: 123,009,931 (GRCm39) S727P probably benign Het
Kidins220 A T 12: 25,107,139 (GRCm39) K1531* probably null Het
Ksr1 C T 11: 78,929,024 (GRCm39) V266M probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipi T C 16: 75,370,798 (GRCm39) R140G possibly damaging Het
Lrrc32 T C 7: 98,147,618 (GRCm39) S133P probably damaging Het
Map3k7 T A 4: 31,964,318 (GRCm39) I19N probably damaging Het
Marf1 A G 16: 13,970,449 (GRCm39) V90A probably benign Het
Mark3 T C 12: 111,621,877 (GRCm39) L673P probably damaging Het
Meis1 T C 11: 18,966,229 (GRCm39) H48R probably benign Het
Mettl26 G A 17: 26,094,995 (GRCm39) V87M probably damaging Het
Mknk2 T C 10: 80,511,696 (GRCm39) R5G probably benign Het
Mtcl3 G T 10: 29,026,240 (GRCm39) V441F probably damaging Het
Mterf1b T C 5: 4,246,956 (GRCm39) V199A possibly damaging Het
Ncs1 T A 2: 31,170,666 (GRCm39) probably null Het
Nek10 T C 14: 14,986,704 (GRCm38) V1014A probably benign Het
Notch2 A G 3: 98,042,744 (GRCm39) N1370D probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Opn5 C G 17: 42,903,897 (GRCm39) R146T probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or8b55 T A 9: 38,726,952 (GRCm39) M51K probably benign Het
Or8g33 A G 9: 39,338,032 (GRCm39) C112R probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pcyox1l C T 18: 61,832,359 (GRCm39) probably null Het
Plxnb2 T C 15: 89,044,962 (GRCm39) T1128A possibly damaging Het
Prex1 T C 2: 166,425,127 (GRCm39) T960A probably benign Het
Prkaa2 A C 4: 104,893,291 (GRCm39) *553G probably null Het
Rasgrp4 A G 7: 28,844,639 (GRCm39) D297G probably damaging Het
Sdf4 G A 4: 156,083,856 (GRCm39) V109I probably benign Het
Serpinb3d T C 1: 107,007,027 (GRCm39) K227R probably benign Het
Sgsm1 A T 5: 113,398,822 (GRCm39) I750N probably damaging Het
Shtn1 T A 19: 59,020,673 (GRCm39) K183M probably damaging Het
Skic3 A G 13: 76,303,852 (GRCm39) T1257A probably benign Het
Slc22a30 T C 19: 8,381,945 (GRCm39) T109A probably benign Het
Slco1c1 A G 6: 141,487,929 (GRCm39) D99G probably damaging Het
Tcf25 T A 8: 124,122,354 (GRCm39) probably null Het
Tex10 A G 4: 48,452,928 (GRCm39) V677A probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Trappc10 T A 10: 78,058,573 (GRCm39) N136I probably damaging Het
Trpt1 T C 19: 6,975,906 (GRCm39) F173L probably benign Het
Ube4b G A 4: 149,421,925 (GRCm39) R955C probably damaging Het
Usp34 C A 11: 23,371,340 (GRCm39) P1840T probably benign Het
Vmn1r27 A T 6: 58,192,985 (GRCm39) N6K possibly damaging Het
Wdr25 T C 12: 108,993,347 (GRCm39) V521A possibly damaging Het
Wdr64 G A 1: 175,639,623 (GRCm39) E1031K possibly damaging Het
Wnt10a A G 1: 74,839,755 (GRCm39) N147S probably damaging Het
Zbed5 T C 5: 129,931,059 (GRCm39) I336T possibly damaging Het
Zfp758 T A 17: 22,594,796 (GRCm39) H427Q probably damaging Het
Zfp961 C A 8: 72,722,070 (GRCm39) H194Q 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
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'- TGCAGGTACCACCAAGTCTC -3'
(R):5'- TATGAGCCCTACCTGAGACTGG -3'

Sequencing Primer
(F):5'- GGTACCACCAAGTCTCTACTAGAG -3'
(R):5'- CTACCTGAGACTGGCGTTG -3'
Posted On 2016-12-15