Incidental Mutation 'R8070:Gigyf2'
ID 620202
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 067505-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R8070 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87368629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1103 (N1103S)
Ref Sequence ENSEMBL: ENSMUSP00000027475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect probably benign
Transcript: ENSMUST00000027475
AA Change: N1103S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: N1103S

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: N1097S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: N1097S

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: N1103S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: N1103S

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 probably benign
Transcript: ENSMUST00000174501
AA Change: N1103S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: N1103S

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
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,510 (GRCm39) E82G probably benign Het
9830107B12Rik A G 17: 48,452,681 (GRCm39) F86S probably damaging Het
Aamdc A T 7: 97,224,855 (GRCm39) Y2* probably null Het
Acta1 T A 8: 124,620,360 (GRCm39) D26V possibly damaging Het
Adra1d A C 2: 131,403,502 (GRCm39) L196R probably damaging Het
Agbl2 G A 2: 90,621,909 (GRCm39) C132Y probably benign Het
Amd1 A G 10: 40,170,226 (GRCm39) V92A probably benign Het
Arid4b T A 13: 14,310,844 (GRCm39) I149K probably benign Het
Atg7 A G 6: 114,674,041 (GRCm39) M312V probably benign Het
Bap1 T A 14: 30,978,643 (GRCm39) V381E probably damaging Het
Cbfa2t3 C T 8: 123,369,720 (GRCm39) V207I possibly damaging Het
Cdh24 T C 14: 54,870,030 (GRCm39) Q629R probably benign Het
Cdhr2 G T 13: 54,867,606 (GRCm39) V479L probably benign Het
Chd2 A G 7: 73,101,506 (GRCm39) S1407P probably benign Het
Clstn2 A G 9: 97,681,523 (GRCm39) V39A possibly damaging Het
Cwh43 T A 5: 73,578,806 (GRCm39) M357K possibly damaging Het
Dcdc2a T A 13: 25,386,180 (GRCm39) D351E probably benign Het
Dennd6b T C 15: 89,069,576 (GRCm39) I517V probably benign Het
Dnah17 T C 11: 117,915,497 (GRCm39) E4374G probably damaging Het
Emsy A G 7: 98,275,922 (GRCm39) S336P possibly damaging Het
Enoph1 A T 5: 100,208,841 (GRCm39) E65D probably benign Het
Fam83f T A 15: 80,556,281 (GRCm39) L55Q probably damaging Het
Fry T C 5: 150,401,472 (GRCm39) F379L Het
Fscb A T 12: 64,521,382 (GRCm39) M28K probably benign Het
Gas7 G A 11: 67,574,260 (GRCm39) V412M probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcn1 T A 5: 115,727,057 (GRCm39) V638E probably benign Het
Ggt1 A T 10: 75,414,733 (GRCm39) I184F probably damaging Het
Gm5592 G A 7: 40,935,887 (GRCm39) A130T possibly damaging Het
Gys2 T C 6: 142,394,230 (GRCm39) probably null Het
Hmcn1 C A 1: 150,525,743 (GRCm39) E3327* probably null Het
Ighv1-36 C T 12: 114,843,656 (GRCm39) G68E probably damaging Het
Igkv6-32 G A 6: 70,051,089 (GRCm39) T89M probably damaging Het
Ipo7 A G 7: 109,652,014 (GRCm39) D931G probably benign Het
Jakmip1 A G 5: 37,330,631 (GRCm39) E437G probably benign Het
Lingo3 C T 10: 80,671,955 (GRCm39) probably benign Het
Lnpep A G 17: 17,758,900 (GRCm39) S815P probably damaging Het
Ly6a T C 15: 74,869,449 (GRCm39) D2G probably damaging Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mapk8ip3 A T 17: 25,120,078 (GRCm39) probably null Het
Mecom T C 3: 30,033,987 (GRCm39) E239G probably damaging Het
Mug1 T C 6: 121,852,838 (GRCm39) V889A probably benign Het
Myo18b T A 5: 112,938,986 (GRCm39) N1675I probably benign Het
Ndrg4 T C 8: 96,426,756 (GRCm39) F50L possibly damaging Het
Ndst4 A G 3: 125,508,293 (GRCm39) Y286C probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Olfm3 A G 3: 114,895,604 (GRCm39) D195G probably damaging Het
Or2y14 A T 11: 49,404,941 (GRCm39) T159S probably damaging Het
Or4p21 G T 2: 88,277,003 (GRCm39) T93K probably benign Het
Pds5a A G 5: 65,809,741 (GRCm39) L407P possibly damaging Het
Pgm2 A G 5: 64,269,425 (GRCm39) N504S probably benign Het
Plce1 A G 19: 38,690,283 (GRCm39) M656V probably damaging Het
Pou6f2 T C 13: 18,414,209 (GRCm39) T189A unknown Het
Ppp1r12b T C 1: 134,803,807 (GRCm39) S451G probably benign Het
Prox1 T G 1: 189,893,107 (GRCm39) N446T probably damaging Het
Ralgapa2 T A 2: 146,195,199 (GRCm39) R1195S probably damaging Het
Rere A G 4: 150,701,832 (GRCm39) D37G probably damaging Het
Tfip11 T A 5: 112,482,796 (GRCm39) M560K possibly damaging Het
Thop1 T C 10: 80,915,320 (GRCm39) V260A probably damaging Het
Tle6 A G 10: 81,434,476 (GRCm39) M41T possibly damaging Het
Trav13d-4 T C 14: 53,995,249 (GRCm39) S68P possibly damaging Het
Trim24 A G 6: 37,934,661 (GRCm39) N826S probably damaging Het
Tuba3a T C 6: 125,255,433 (GRCm39) E414G probably damaging Het
Vmn2r78 A G 7: 86,571,695 (GRCm39) I502V probably benign Het
Vmn2r79 A T 7: 86,651,336 (GRCm39) Y245F 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
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'- GCTCATCGACTGCTTCTTGG -3'
(R):5'- TGTGTCTCACTGGGTAGAAAAC -3'

Sequencing Primer
(F):5'- TTTTAACAGCATTCCAACCTGCATAC -3'
(R):5'- TGTCTCACTGGGTAGAAAACAATCAC -3'
Posted On 2020-01-23