Incidental Mutation 'R8849:Gigyf2'
ID 674860
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 068672-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R8849 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87361592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 908 (R908L)
Ref Sequence ENSEMBL: ENSMUSP00000027475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect unknown
Transcript: ENSMUST00000027475
AA Change: R908L
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: R908L

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 unknown
Transcript: ENSMUST00000172794
AA Change: R902L
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: R902L

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: R908L
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: R908L

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: 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 unknown
Transcript: ENSMUST00000173235
AA Change: R729L
SMART Domains Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000
AA Change: R729L

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 unknown
Transcript: ENSMUST00000174501
AA Change: R908L
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: R908L

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
Meta Mutation Damage Score 0.1595 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (52/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik G A 16: 14,439,376 (GRCm39) probably null Het
Adgrv1 T C 13: 81,669,324 (GRCm39) T2411A probably benign Het
Aldh5a1 T A 13: 25,121,464 (GRCm39) T30S probably benign Het
Alg1 G A 16: 5,051,532 (GRCm39) A7T possibly damaging Het
Ano10 T A 9: 122,090,510 (GRCm39) M268L probably benign Het
Avil T C 10: 126,844,661 (GRCm39) V264A possibly damaging Het
Bicc1 T A 10: 70,782,694 (GRCm39) I558F probably benign Het
Bst1 A T 5: 43,977,927 (GRCm39) H92L possibly damaging Het
C1s2 T C 6: 124,602,754 (GRCm39) N486D probably benign Het
Carmil3 A T 14: 55,734,627 (GRCm39) H452L probably benign Het
Ccser1 T A 6: 61,288,537 (GRCm39) D233E probably benign Het
Ceacam18 G T 7: 43,294,967 (GRCm39) L342F probably benign Het
Cep95 T A 11: 106,707,630 (GRCm39) M691K Het
Cfap221 G A 1: 119,922,874 (GRCm39) P23S probably damaging Het
Ciao2b C T 8: 105,367,599 (GRCm39) probably null Het
Col20a1 T C 2: 180,640,432 (GRCm39) Y572H probably damaging Het
Cr2 C T 1: 194,839,547 (GRCm39) V627M probably damaging Het
Cul2 T A 18: 3,423,551 (GRCm39) H320Q probably benign Het
Ddx5 A T 11: 106,675,975 (GRCm39) V266E probably damaging Het
Dgkd T C 1: 87,846,365 (GRCm39) V336A probably damaging Het
Dnah6 T C 6: 73,121,156 (GRCm39) probably null Het
Dnhd1 C A 7: 105,370,723 (GRCm39) Q4668K probably benign Het
Dock7 C T 4: 98,904,986 (GRCm39) E630K Het
Dolk T C 2: 30,174,935 (GRCm39) E370G probably damaging Het
Ercc6 T A 14: 32,291,565 (GRCm39) L1003Q probably damaging Het
Foxc1 T C 13: 31,992,817 (GRCm39) S543P unknown Het
Gbp2b A C 3: 142,313,913 (GRCm39) M398L probably benign Het
Gpr176 T A 2: 118,110,095 (GRCm39) E388V probably damaging Het
Gpx8 C T 13: 113,179,704 (GRCm39) G199E probably benign Het
Gtf2a1l A G 17: 89,001,566 (GRCm39) T141A possibly damaging Het
Ifi208 G A 1: 173,506,184 (GRCm39) probably benign Het
Itgad T A 7: 127,789,157 (GRCm39) probably benign Het
Kif20b C T 19: 34,915,716 (GRCm39) Q498* probably null Het
Lmo7 T C 14: 102,163,543 (GRCm39) Y1463H unknown Het
Mms19 A T 19: 41,952,767 (GRCm39) L114Q probably damaging Het
Mogs T C 6: 83,094,986 (GRCm39) V601A possibly damaging Het
Mybpc1 T A 10: 88,407,447 (GRCm39) M87L probably benign Het
Nhlrc2 T C 19: 56,580,184 (GRCm39) V439A possibly damaging Het
Npc1l1 T A 11: 6,179,038 (GRCm39) H124L probably damaging Het
Opn4 A G 14: 34,318,986 (GRCm39) W200R probably damaging Het
Or2b2b T C 13: 21,858,226 (GRCm39) E296G possibly damaging Het
Pax2 T C 19: 44,749,111 (GRCm39) probably benign Het
Phf20 G T 2: 156,118,440 (GRCm39) Q381H probably damaging Het
Pramel25 A G 4: 143,521,596 (GRCm39) N404S probably damaging Het
Pramel32 T A 4: 88,546,014 (GRCm39) T443S probably benign Het
Pramel34 A T 5: 93,784,197 (GRCm39) H422Q probably benign Het
Rb1 C T 14: 73,434,709 (GRCm39) R903Q probably damaging Het
Scamp4 T A 10: 80,445,266 (GRCm39) V37E probably damaging Het
Sema3e T C 5: 14,302,673 (GRCm39) W733R probably damaging Het
Sertm1 A G 3: 54,806,749 (GRCm39) V92A possibly damaging Het
Slc4a5 T C 6: 83,250,180 (GRCm39) F638L probably damaging Het
Tprn T C 2: 25,159,171 (GRCm39) S703P probably damaging Het
Tulp4 T A 17: 6,272,656 (GRCm39) M570K probably benign Het
Zfp433 T C 10: 81,556,875 (GRCm39) I459T probably benign Het
Zfp697 A G 3: 98,334,943 (GRCm39) E236G 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
R8519:Gigyf2 UTSW 1 87,338,431 (GRCm39) missense probably benign 0.01
R8675:Gigyf2 UTSW 1 87,331,438 (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'- AAGCAGTATGGTTTATCCCTCTAC -3'
(R):5'- TGTTTGTACCAGACCGCTGC -3'

Sequencing Primer
(F):5'- CTTCTGCAAAGGAAGAGGAGGC -3'
(R):5'- GTACCAGACCGCTGCTTGTC -3'
Posted On 2021-07-15