Incidental Mutation 'R6800:Gigyf2'
ID 533246
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 044913-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R6800 (G1)
Quality Score 183.009
Status Validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87346898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 576 (I576T)
Ref Sequence ENSEMBL: ENSMUSP00000129046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000164992] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect unknown
Transcript: ENSMUST00000027475
AA Change: I633T
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: I633T

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: ENSMUST00000164992
AA Change: I576T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000
AA Change: I576T

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: I627T
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: I627T

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: I633T
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: I633T

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 possibly damaging
Transcript: ENSMUST00000173173
AA Change: I626T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000
AA Change: I626T

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 unknown
Transcript: ENSMUST00000173235
AA Change: I454T
SMART Domains Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000
AA Change: I454T

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 silent
Transcript: ENSMUST00000173636
Predicted Effect unknown
Transcript: ENSMUST00000174501
AA Change: I633T
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: I633T

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 60,992,948 (GRCm39) P244S probably damaging Het
9130023H24Rik C A 7: 127,836,742 (GRCm39) probably benign Het
Acoxl A T 2: 127,852,085 (GRCm39) Q129L probably damaging Het
Akna T C 4: 63,316,268 (GRCm39) T32A probably benign Het
Alox15 C T 11: 70,235,645 (GRCm39) probably null Het
Antxrl T C 14: 33,787,864 (GRCm39) S296P probably damaging Het
Arrb2 G T 11: 70,328,142 (GRCm39) G52* probably null Het
Bltp2 T C 11: 78,179,105 (GRCm39) F2091S probably benign Het
Capn2 A T 1: 182,309,045 (GRCm39) I499N probably damaging Het
Cfhr4 T A 1: 139,629,719 (GRCm39) D683V possibly damaging Het
Cspg4b T A 13: 113,504,686 (GRCm39) D396E probably benign Het
Cubn T A 2: 13,326,066 (GRCm39) I2700F probably damaging Het
Cypt4 A T 9: 24,536,965 (GRCm39) N152Y probably benign Het
Dmxl2 T C 9: 54,316,467 (GRCm39) N1640D probably damaging Het
Dnah7b A T 1: 46,379,377 (GRCm39) N3704Y possibly damaging Het
Dnah9 A G 11: 65,963,565 (GRCm39) probably null Het
Elac2 G A 11: 64,890,265 (GRCm39) probably null Het
Erich3 A T 3: 154,433,029 (GRCm39) probably null Het
Espnl T C 1: 91,270,351 (GRCm39) V386A probably damaging Het
Fbxl6 T A 15: 76,422,898 (GRCm39) probably benign Het
Fdps A C 3: 89,008,068 (GRCm39) F17V probably damaging Het
Gm20939 A G 17: 95,184,657 (GRCm39) E435G possibly damaging Het
Hivep1 G A 13: 42,310,852 (GRCm39) V1031I probably damaging Het
Hydin T G 8: 111,324,603 (GRCm39) S4655A probably benign Het
Ifrd1 T A 12: 40,273,157 (GRCm39) probably benign Het
Iqgap1 G T 7: 80,378,729 (GRCm39) T1219K possibly damaging Het
Lmtk3 G A 7: 45,443,233 (GRCm39) E639K possibly damaging Het
Map3k5 A G 10: 20,017,326 (GRCm39) *1373W probably null Het
Mia2 G A 12: 59,235,332 (GRCm39) probably null Het
Micu2 T C 14: 58,156,896 (GRCm39) D313G possibly damaging Het
Mrgpra4 A G 7: 47,631,371 (GRCm39) S77P probably damaging Het
Mrpl51 T C 6: 125,169,367 (GRCm39) V17A probably benign Het
Neurod4 A T 10: 130,106,661 (GRCm39) Y204* probably null Het
Or2n1 A G 17: 38,486,013 (GRCm39) I13V probably benign Het
Or56a42-ps1 A T 7: 104,776,217 (GRCm39) V97E probably benign Het
Or5p67 G A 7: 107,922,460 (GRCm39) T141I probably benign Het
Or6c66b A T 10: 129,377,132 (GRCm39) H242L probably damaging Het
Pate2 T C 9: 35,596,941 (GRCm39) probably benign Het
Pcdhgb8 G A 18: 37,896,580 (GRCm39) R550Q probably benign Het
Phldb3 T C 7: 24,323,577 (GRCm39) L437P possibly damaging Het
Pianp C A 6: 124,978,565 (GRCm39) P257T possibly damaging Het
Rbbp6 T A 7: 122,584,287 (GRCm39) H140Q possibly damaging Het
Rfx2 A G 17: 57,087,804 (GRCm39) I529T probably damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Rp1l1 T C 14: 64,268,599 (GRCm39) I1395T possibly damaging Het
Rps6ka2 A C 17: 7,519,035 (GRCm39) K186Q probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtel1 C A 2: 180,964,256 (GRCm39) T85N probably benign Het
Rtn4rl2 T C 2: 84,710,967 (GRCm39) N99S probably damaging Het
Ryr1 C T 7: 28,723,741 (GRCm39) G4106D possibly damaging Het
Scgb2b24 A G 7: 33,437,894 (GRCm39) V71A probably benign Het
Sgip1 A G 4: 102,778,225 (GRCm39) probably benign Het
Slc12a4 G A 8: 106,676,371 (GRCm39) T515I probably damaging Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Strbp C T 2: 37,515,228 (GRCm39) R266Q probably damaging Het
Strn G T 17: 78,977,787 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,118,264 (GRCm39) V55L probably benign Het
Tmem178b A T 6: 40,231,858 (GRCm39) Q164L unknown Het
Tmprss6 C T 15: 78,324,457 (GRCm39) R786H probably damaging Het
Ttc21a T A 9: 119,770,268 (GRCm39) L113Q possibly damaging Het
Ttc21b T C 2: 66,038,994 (GRCm39) probably null Het
Vmn2r51 T C 7: 9,832,191 (GRCm39) D465G probably damaging Het
Vmp1 A C 11: 86,556,913 (GRCm39) probably null Het
Wdcp T C 12: 4,901,358 (GRCm39) F405L probably damaging Het
Zfhx3 A T 8: 109,676,149 (GRCm39) T2400S probably benign Het
Zfp27 T C 7: 29,593,860 (GRCm39) T702A probably benign Het
Zfp87 T C 13: 74,520,080 (GRCm39) S333G 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
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
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'- TTTGAAGGGCACAAGTTTGGAG -3'
(R):5'- GACCCTGAAAACCTAATTAGATGCC -3'

Sequencing Primer
(F):5'- TTTGGAGTAGGAAGCAAAGGTCTTG -3'
(R):5'- AAACCTAATTAGATGCCATTCTCTG -3'
Posted On 2018-09-12