Incidental Mutation 'R4411:Gigyf2'
ID 327887
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 041693-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R4411 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87364582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 954 (E954G)
Ref Sequence ENSEMBL: ENSMUSP00000133327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect probably damaging
Transcript: ENSMUST00000027475
AA Change: E954G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: E954G

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 damaging
Transcript: ENSMUST00000172794
AA Change: E948G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: E948G

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: E954G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: E954G

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: E775G
SMART Domains Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000
AA Change: E775G

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 damaging
Transcript: ENSMUST00000174501
AA Change: E954G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: E954G

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: ENSMUST00000174671
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 95% (62/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,042,781 (GRCm39) I423V probably benign Het
Abl2 T C 1: 156,457,652 (GRCm39) V306A possibly damaging Het
Adcy4 T C 14: 56,006,900 (GRCm39) Y1006C probably damaging Het
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Arid5b T C 10: 67,932,519 (GRCm39) R885G probably damaging Het
Atp9a A T 2: 168,503,853 (GRCm39) V613E probably damaging Het
Atxn7l1 G T 12: 33,244,886 (GRCm39) probably benign Het
Brd8 C A 18: 34,756,497 (GRCm39) probably benign Het
Bsnd C T 4: 106,343,868 (GRCm39) R146H probably benign Het
C4b C T 17: 34,947,838 (GRCm39) R1659H probably damaging Het
Duox1 G A 2: 122,168,115 (GRCm39) R1080H probably benign Het
Eml2 T C 7: 18,916,326 (GRCm39) probably null Het
Fbxo44 G A 4: 148,238,065 (GRCm39) R221C probably damaging Het
Frem1 T C 4: 82,881,481 (GRCm39) D166G probably damaging Het
Galnt5 T C 2: 57,889,207 (GRCm39) L269P probably benign Het
Gpc6 T C 14: 118,188,590 (GRCm39) V408A probably benign Het
Hspg2 A G 4: 137,289,535 (GRCm39) T3832A probably benign Het
Ift88 A G 14: 57,715,436 (GRCm39) N493S probably damaging Het
Ighv1-76 A T 12: 115,811,731 (GRCm39) C41S probably damaging Het
Igkv12-46 G A 6: 69,741,930 (GRCm39) T16I probably benign Het
Igkv3-9 G T 6: 70,565,547 (GRCm39) V49F probably damaging Het
Isoc2b A T 7: 4,852,433 (GRCm39) probably benign Het
Lcp2 T A 11: 34,037,173 (GRCm39) probably benign Het
Lmntd1 A G 6: 145,373,003 (GRCm39) probably null Het
Mdm2 A T 10: 117,545,694 (GRCm39) probably null Het
Mrgprx3-ps T C 7: 46,959,746 (GRCm39) noncoding transcript Het
Msh2 T C 17: 88,025,032 (GRCm39) S637P probably damaging Het
Myo5b T C 18: 74,831,345 (GRCm39) F765S possibly damaging Het
Nav2 T A 7: 49,047,857 (GRCm39) N91K probably benign Het
Ndor1 G A 2: 25,138,492 (GRCm39) P363S probably benign Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Pcdhb5 T C 18: 37,455,050 (GRCm39) S477P possibly damaging Het
Pde3b GTGATGATGATGATGATGATGATGATG GTGATGATGATGATGATGATGATG 7: 114,133,984 (GRCm39) probably benign Het
Pnpla7 G A 2: 24,941,716 (GRCm39) W13* probably null Het
Pnpla8 T C 12: 44,330,225 (GRCm39) V41A probably benign Het
Prdm2 A T 4: 142,860,240 (GRCm39) S1017T probably benign Het
Prdm5 T A 6: 65,878,771 (GRCm39) Y108* probably null Het
Rab34 T A 11: 78,079,592 (GRCm39) probably null Het
Skic3 A G 13: 76,275,623 (GRCm39) E410G possibly damaging Het
Smpd5 G T 15: 76,179,112 (GRCm39) R160L possibly damaging Het
Spmip10 A G 18: 56,727,720 (GRCm39) T65A probably benign Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Taf5 T A 19: 47,059,453 (GRCm39) V199D probably damaging Het
Tas2r114 C T 6: 131,666,585 (GRCm39) V148I probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tnfrsf25 G A 4: 152,202,843 (GRCm39) probably benign Het
Tpd52l1 T C 10: 31,255,315 (GRCm39) T11A possibly damaging Het
Trmt1l G A 1: 151,327,905 (GRCm39) E472K probably benign Het
Ttc17 T C 2: 94,173,098 (GRCm39) K766E probably damaging Het
Ttn C T 2: 76,560,633 (GRCm39) R29256Q probably damaging Het
Ttn T C 2: 76,572,414 (GRCm39) I26160V probably damaging Het
Ubxn6 A T 17: 56,376,303 (GRCm39) V311E probably damaging Het
Usp2 T C 9: 44,002,360 (GRCm39) S351P probably damaging Het
Usp7 C A 16: 8,526,778 (GRCm39) D187Y probably damaging Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Vmn2r58 T A 7: 41,511,360 (GRCm39) K481M possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Zfp455 A T 13: 67,355,389 (GRCm39) N219I probably damaging 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
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'- GCAAGCCAACTTAGAATAATGTGG -3'
(R):5'- TCCAGAAAACGGTTAGATTACCC -3'

Sequencing Primer
(F):5'- GCCAACTTAGAATAATGTGGAAAAGG -3'
(R):5'- CAGCAATTCTGACAGTAACC -3'
Posted On 2015-07-07