Incidental Mutation 'R0126:Gigyf2'
ID 216101
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 038411-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R0126 (G1)
Quality Score 68
Status Validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 87339597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000164992] [ENSMUST00000172736] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000174501] [ENSMUST00000173173] [ENSMUST00000173663] [ENSMUST00000173152] [ENSMUST00000173148] [ENSMUST00000174334]
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 noncoding transcript
Transcript: ENSMUST00000158988
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: 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 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: 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 probably benign
Transcript: ENSMUST00000173636
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 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: ENSMUST00000174535
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: 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: ENSMUST00000173148
Predicted Effect probably benign
Transcript: ENSMUST00000174334
SMART Domains Protein: ENSMUSP00000133666
Gene: ENSMUSG00000048000

DomainStartEndE-ValueType
low complexity region 77 84 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.2%
  • 20x: 81.8%
Validation Efficiency 98% (102/104)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,333,742 (GRCm39) L1730P possibly damaging Het
Adam9 T C 8: 25,460,753 (GRCm39) N577S probably damaging Het
Add1 T C 5: 34,770,923 (GRCm39) Y316H probably benign Het
Agpat3 T C 10: 78,113,890 (GRCm39) D266G probably null Het
Aldh3a2 C A 11: 61,115,384 (GRCm39) Q524H probably benign Het
Alox12b A C 11: 69,058,297 (GRCm39) S550R probably benign Het
Ano4 T A 10: 88,788,154 (GRCm39) I753F possibly damaging Het
AW011738 T A 4: 156,288,104 (GRCm39) probably benign Het
B4galt3 C T 1: 171,103,738 (GRCm39) T103M probably damaging Het
Cabs1 C T 5: 88,128,054 (GRCm39) T235I probably damaging Het
Casq2 A G 3: 102,040,715 (GRCm39) H272R probably damaging Het
Ccdc180 T C 4: 45,912,866 (GRCm39) probably null Het
Cdh12 A T 15: 21,584,031 (GRCm39) M624L probably benign Het
Cdh5 A C 8: 104,867,314 (GRCm39) probably null Het
Col7a1 A G 9: 108,798,651 (GRCm39) probably benign Het
Cpne2 A T 8: 95,281,561 (GRCm39) I199F probably damaging Het
Crebbp A T 16: 3,901,927 (GRCm39) F2399L possibly damaging Het
Defb36 T C 2: 152,454,499 (GRCm39) C53R probably damaging Het
Degs1 T C 1: 182,107,257 (GRCm39) M1V probably null Het
Disp2 T A 2: 118,620,819 (GRCm39) F517Y probably damaging Het
Dnah5 A G 15: 28,246,465 (GRCm39) D601G probably benign Het
Dnpep G A 1: 75,289,182 (GRCm39) Q310* probably null Het
Dsg1a A G 18: 20,473,935 (GRCm39) T1003A probably benign Het
Fbrsl1 C G 5: 110,543,906 (GRCm39) probably benign Het
Foxh1 A T 15: 76,553,454 (GRCm39) L116H probably damaging Het
Golm2 T C 2: 121,736,565 (GRCm39) probably benign Het
Gp1ba A T 11: 70,531,859 (GRCm39) probably benign Het
Gucy1b1 A G 3: 81,945,218 (GRCm39) probably benign Het
Gucy2g T G 19: 55,229,598 (GRCm39) D24A probably benign Het
Hirip3 A G 7: 126,462,614 (GRCm39) K190R probably damaging Het
Hmmr T C 11: 40,596,781 (GRCm39) N717D probably damaging Het
Il12b A T 11: 44,301,045 (GRCm39) Y187F probably damaging Het
Iqgap1 A G 7: 80,388,070 (GRCm39) I859T probably benign Het
Jmjd1c T C 10: 67,055,105 (GRCm39) L175P probably damaging Het
Klc2 T C 19: 5,162,774 (GRCm39) M242V possibly damaging Het
Klf3 T C 5: 64,979,446 (GRCm39) M96T probably benign Het
Lrrc66 G T 5: 73,764,431 (GRCm39) H871N probably benign Het
Ltn1 A T 16: 87,222,528 (GRCm39) D168E probably benign Het
Mak T C 13: 41,186,072 (GRCm39) D532G probably damaging Het
Marchf6 A G 15: 31,462,151 (GRCm39) M859T probably benign Het
Meak7 T C 8: 120,489,089 (GRCm39) D398G possibly damaging Het
Mlxipl C A 5: 135,161,177 (GRCm39) N365K probably damaging Het
Mplkip T C 13: 17,870,337 (GRCm39) S90P possibly damaging Het
Myo5c A T 9: 75,176,807 (GRCm39) H584L probably benign Het
Myt1l A G 12: 29,901,719 (GRCm39) T228A possibly damaging Het
Nxpe3 A T 16: 55,686,592 (GRCm39) Y139N possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51f2 A G 7: 102,526,347 (GRCm39) T7A probably benign Het
Or8k40 T A 2: 86,584,981 (GRCm39) I34L probably damaging Het
Pak6 C T 2: 118,520,813 (GRCm39) S268F possibly damaging Het
Parp10 G A 15: 76,127,266 (GRCm39) A57V probably damaging Het
Pik3r3 T A 4: 116,113,465 (GRCm39) D69E probably damaging Het
Polr2a T G 11: 69,638,251 (GRCm39) K105T probably damaging Het
Prdm16 A T 4: 154,413,295 (GRCm39) probably benign Het
Prepl G A 17: 85,390,670 (GRCm39) T96I probably benign Het
Ret C T 6: 118,142,956 (GRCm39) probably benign Het
Rgl3 A T 9: 21,887,108 (GRCm39) D541E probably benign Het
Rpa1 A C 11: 75,209,355 (GRCm39) Y143D probably benign Het
Rps16 T A 7: 28,050,508 (GRCm39) L47Q probably damaging Het
Sbno2 A T 10: 79,904,687 (GRCm39) probably null Het
Scube1 A T 15: 83,505,264 (GRCm39) N385K probably damaging Het
Shank2 A G 7: 143,585,092 (GRCm39) E31G probably damaging Het
Slc38a9 G T 13: 112,865,791 (GRCm39) C496F possibly damaging Het
Snap47 A G 11: 59,328,813 (GRCm39) V163A probably damaging Het
Sntg2 T C 12: 30,251,260 (GRCm39) probably benign Het
Sp7 C A 15: 102,266,895 (GRCm39) V322F probably damaging Het
Spic T C 10: 88,511,924 (GRCm39) K111E probably damaging Het
Sqor T C 2: 122,639,947 (GRCm39) probably benign Het
St6galnac1 T A 11: 116,657,410 (GRCm39) M385L probably benign Het
Synpo2 A T 3: 122,873,511 (GRCm39) S1211T possibly damaging Het
Sytl2 T A 7: 90,045,797 (GRCm39) V638E probably damaging Het
Taar1 T A 10: 23,796,445 (GRCm39) S48T probably benign Het
Tbx18 T A 9: 87,611,706 (GRCm39) D108V possibly damaging Het
Tdh C T 14: 63,735,042 (GRCm39) probably benign Het
Tlr9 T A 9: 106,102,881 (GRCm39) L724Q probably benign Het
Tmem270 T A 5: 134,931,642 (GRCm39) Y100F probably benign Het
Trim65 G C 11: 116,015,430 (GRCm39) probably benign Het
Trrap A T 5: 144,742,560 (GRCm39) K1393* probably null Het
Ttc13 A G 8: 125,410,030 (GRCm39) V523A probably damaging Het
Utrn T A 10: 12,587,219 (GRCm39) D939V probably benign Het
Vmn1r46 G T 6: 89,953,935 (GRCm39) M261I probably benign Het
Vwa5a A G 9: 38,649,103 (GRCm39) probably null Het
Zfp108 A T 7: 23,960,149 (GRCm39) T247S probably benign Het
Zfp366 A T 13: 99,365,129 (GRCm39) I97F probably benign Het
Zfp986 C T 4: 145,625,513 (GRCm39) R58C 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
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
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'- GGTGGCTTATCTCCAAGACAGTGC -3'
(R):5'- TGTCAGGCTCTCCAACACTTGC -3'

Sequencing Primer
(F):5'- CACTAGACGACGAAAGATTGAC -3'
(R):5'- TGCACAGAGCATTCTGCTG -3'
Posted On 2014-07-21