Incidental Mutation 'R8519:Gigyf2'
ID 658501
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 067946-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R8519 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87338431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 388 (T388S)
Ref Sequence ENSEMBL: ENSMUSP00000129046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000164992] [ENSMUST00000172736] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173148] [ENSMUST00000173152] [ENSMUST00000173173] [ENSMUST00000173663] [ENSMUST00000174334] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect unknown
Transcript: ENSMUST00000027475
AA Change: T445S
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: T445S

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
AA Change: T388S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000
AA Change: T388S

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: ENSMUST00000172736
SMART Domains Protein: ENSMUSP00000134620
Gene: ENSMUSG00000048000

DomainStartEndE-ValueType
low complexity region 49 87 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172794
AA Change: T439S
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: T439S

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: T445S
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: T445S

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: ENSMUST00000173148
Predicted Effect probably benign
Transcript: ENSMUST00000173152
SMART Domains Protein: ENSMUSP00000134086
Gene: ENSMUSG00000048000

DomainStartEndE-ValueType
low complexity region 28 66 N/A INTRINSIC
low complexity region 111 122 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173173
AA Change: T438S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000
AA Change: T438S

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: T266S

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
Predicted Effect probably benign
Transcript: ENSMUST00000173663
SMART Domains Protein: ENSMUSP00000133416
Gene: ENSMUSG00000048000

DomainStartEndE-ValueType
low complexity region 22 60 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174334
SMART Domains Protein: ENSMUSP00000133666
Gene: ENSMUSG00000048000

DomainStartEndE-ValueType
low complexity region 77 84 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000174501
AA Change: T445S
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: T445S

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T C 10: 61,038,619 (GRCm39) T964A possibly damaging Het
Adamts7 G A 9: 90,075,610 (GRCm39) W1156* probably null Het
Adcy9 T C 16: 4,105,992 (GRCm39) I1041V possibly damaging Het
Armh4 T C 14: 50,010,693 (GRCm39) D338G probably damaging Het
Art4 C A 6: 136,831,349 (GRCm39) probably null Het
Bcl9 A G 3: 97,116,334 (GRCm39) S787P probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Cdc45 T C 16: 18,627,597 (GRCm39) N76S probably damaging Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cldn10 T G 14: 119,092,439 (GRCm39) V13G probably benign Het
Cnot6 G T 11: 49,575,941 (GRCm39) Q178K probably benign Het
Crot T C 5: 9,023,629 (GRCm39) I420V probably benign Het
Csgalnact1 T A 8: 68,854,105 (GRCm39) H232L possibly damaging Het
Cuzd1 T C 7: 130,910,626 (GRCm39) I556M possibly damaging Het
Cyp2c54 G A 19: 40,026,857 (GRCm39) R433W probably damaging Het
Cyp2j11 A G 4: 96,207,539 (GRCm39) F259L probably benign Het
Dhx9 C T 1: 153,348,922 (GRCm39) G264R probably damaging Het
Dnah5 G A 15: 28,299,245 (GRCm39) V1536M probably benign Het
Erlin1 T A 19: 44,058,041 (GRCm39) probably benign Het
Foxb2 C A 19: 16,850,347 (GRCm39) V220L possibly damaging Het
Gimap5 T C 6: 48,730,068 (GRCm39) C213R probably benign Het
Gkap1 T G 13: 58,386,506 (GRCm39) K57N probably damaging Het
H60b T G 10: 22,159,421 (GRCm39) probably benign Het
Hectd4 C T 5: 121,442,489 (GRCm39) R670* probably null Het
Hoxc9 A G 15: 102,892,341 (GRCm39) N185D probably damaging Het
Igkv1-117 A G 6: 68,098,766 (GRCm39) E105G possibly damaging Het
Klk10 T A 7: 43,432,239 (GRCm39) Y57* probably null Het
Lrrc63 A T 14: 75,363,312 (GRCm39) I273K possibly damaging Het
M6pr T C 6: 122,292,025 (GRCm39) I119T probably damaging Het
Mael T C 1: 166,063,127 (GRCm39) probably null Het
Magi1 A G 6: 93,681,330 (GRCm39) S574P possibly damaging Het
Man2c1 A G 9: 57,044,061 (GRCm39) D291G probably benign Het
Mapk1ip1l A T 14: 47,547,920 (GRCm39) probably benign Het
Mrc2 A G 11: 105,238,132 (GRCm39) T1135A possibly damaging Het
Mrpl39 A G 16: 84,527,736 (GRCm39) V164A probably benign Het
Mynn C A 3: 30,661,290 (GRCm39) P124H probably damaging Het
Or11l3 T G 11: 58,516,800 (GRCm39) Q23P probably damaging Het
Or14n1-ps1 A T 7: 86,093,062 (GRCm39) N291I probably damaging Het
Or2k2 A G 4: 58,785,203 (GRCm39) I173T probably damaging Het
Or2t48 A G 11: 58,420,329 (GRCm39) F161S possibly damaging Het
Or6k2 A G 1: 173,986,614 (GRCm39) I92V probably damaging Het
Pcif1 A G 2: 164,726,303 (GRCm39) N68S probably damaging Het
Pcm1 T A 8: 41,728,976 (GRCm39) N649K probably damaging Het
Pira1 T C 7: 3,740,432 (GRCm39) Q263R probably benign Het
Plxna2 T A 1: 194,476,266 (GRCm39) I1162N probably damaging Het
Pnp2 T A 14: 51,201,842 (GRCm39) L276Q probably damaging Het
Sirpb1c T A 3: 15,902,526 (GRCm39) I18F possibly damaging Het
Slc2a12 A T 10: 22,540,678 (GRCm39) M178L probably damaging Het
Slc35c1 G T 2: 92,285,052 (GRCm39) F187L probably benign Het
Smg1 T C 7: 117,770,982 (GRCm39) probably benign Het
Spmip6 A G 4: 41,505,071 (GRCm39) S214P possibly damaging Het
Spopfm2 T C 3: 94,083,497 (GRCm39) M105V probably benign Het
Stn1 T C 19: 47,490,111 (GRCm39) H342R probably benign Het
Sult1c2 A T 17: 54,276,709 (GRCm39) H117Q probably damaging Het
Thap1 G A 8: 26,650,925 (GRCm39) R42K probably damaging Het
Tpp2 A T 1: 44,016,365 (GRCm39) probably null Het
Trib2 G T 12: 15,865,347 (GRCm39) P76Q probably damaging Het
Ttc24 G T 3: 87,980,369 (GRCm39) Q111K probably damaging Het
Ubr4 T C 4: 139,143,958 (GRCm39) S1401P probably damaging Het
Uggt1 A C 1: 36,215,724 (GRCm39) probably null Het
Ugt2b1 A G 5: 87,074,326 (GRCm39) L11S probably damaging Het
Uso1 T G 5: 92,343,222 (GRCm39) S769A probably benign Het
Vmn2r117 T C 17: 23,698,442 (GRCm39) T44A probably benign Het
Vmn2r28 T A 7: 5,489,347 (GRCm39) L497F probably benign Het
Vsig10l G A 7: 43,114,326 (GRCm39) S318N probably benign Het
Wbp4 A G 14: 79,714,263 (GRCm39) L83P probably damaging Het
Wnk1 G A 6: 119,927,044 (GRCm39) R1510W probably damaging Het
Zc3hav1l C T 6: 38,272,176 (GRCm39) V198M probably damaging Het
Zfp1004 A G 2: 150,034,700 (GRCm39) I340M 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
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
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'- GCCAATGCTGCTACTGATTGG -3'
(R):5'- GTTCATGTAAGGGCTTGATAGAAG -3'

Sequencing Primer
(F):5'- TGCTGCTACTGATTGGATAGATAC -3'
(R):5'- TCATACCAGGAGCTTCGA -3'
Posted On 2021-01-18