Incidental Mutation 'R0526:Gigyf2'
ID 48886
Institutional Source Beutler Lab
Gene Symbol Gigyf2
Ensembl Gene ENSMUSG00000048000
Gene Name GRB10 interacting GYF protein 2
Synonyms 2610016F01Rik, Tnrc15, A830080H02Rik
MMRRC Submission 038719-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R0526 (G1)
Quality Score 184
Status Not validated
Chromosome 1
Chromosomal Location 87254720-87378518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87349215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 664 (M664K)
Ref Sequence ENSEMBL: ENSMUSP00000134193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027475] [ENSMUST00000164992] [ENSMUST00000172794] [ENSMUST00000172964] [ENSMUST00000173173] [ENSMUST00000174501]
AlphaFold Q6Y7W8
Predicted Effect unknown
Transcript: ENSMUST00000027475
AA Change: M671K
SMART Domains Protein: ENSMUSP00000027475
Gene: ENSMUSG00000048000
AA Change: M671K

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: M614K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129046
Gene: ENSMUSG00000048000
AA Change: M614K

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 noncoding transcript
Transcript: ENSMUST00000172776
Predicted Effect unknown
Transcript: ENSMUST00000172794
AA Change: M665K
SMART Domains Protein: ENSMUSP00000134077
Gene: ENSMUSG00000048000
AA Change: M665K

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: M671K
SMART Domains Protein: ENSMUSP00000133392
Gene: ENSMUSG00000048000
AA Change: M671K

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
AA Change: M664K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134193
Gene: ENSMUSG00000048000
AA Change: M664K

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: M492K
SMART Domains Protein: ENSMUSP00000134677
Gene: ENSMUSG00000048000
AA Change: M492K

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: M671K
SMART Domains Protein: ENSMUSP00000133327
Gene: ENSMUSG00000048000
AA Change: M671K

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,182,535 (GRCm39) N230I possibly damaging Het
4933427D14Rik G T 11: 72,060,609 (GRCm39) Q687K probably damaging Het
Actrt2 A G 4: 154,751,869 (GRCm39) L89P probably damaging Het
Adamts1 A C 16: 85,599,260 (GRCm39) S113R probably benign Het
Agxt2 G T 15: 10,373,948 (GRCm39) C118F probably damaging Het
Akap8 G A 17: 32,536,266 (GRCm39) T49I probably benign Het
Alk A T 17: 72,176,748 (GRCm39) W1519R probably damaging Het
Atf7ip T A 6: 136,536,803 (GRCm39) F12Y probably damaging Het
Atp13a5 A G 16: 29,167,558 (GRCm39) C131R probably damaging Het
Atp8b4 A G 2: 126,269,283 (GRCm39) L168P probably damaging Het
Blm G T 7: 80,155,641 (GRCm39) S346* probably null Het
Ccnt2 T G 1: 127,727,182 (GRCm39) C199G probably damaging Het
Cd151 A T 7: 141,050,504 (GRCm39) H219L probably damaging Het
Cd200r2 A T 16: 44,735,410 (GRCm39) R248S probably damaging Het
Cdh3 A G 8: 107,282,078 (GRCm39) D822G possibly damaging Het
Clec4b1 T C 6: 123,046,729 (GRCm39) probably null Het
Cluh C A 11: 74,556,812 (GRCm39) L951I probably benign Het
Cog7 A T 7: 121,562,494 (GRCm39) probably null Het
Col25a1 C A 3: 130,270,043 (GRCm39) P197Q probably damaging Het
Csde1 T A 3: 102,963,742 (GRCm39) S636R possibly damaging Het
Ect2l C A 10: 18,075,688 (GRCm39) C66F possibly damaging Het
Elac2 T C 11: 64,890,262 (GRCm39) M671T probably benign Het
Evi5 T C 5: 107,969,614 (GRCm39) N143S probably benign Het
Ext2 A G 2: 93,636,430 (GRCm39) V228A probably damaging Het
Fbxo38 A G 18: 62,639,051 (GRCm39) Y1084H probably damaging Het
Fcgr4 T A 1: 170,856,760 (GRCm39) L209Q probably damaging Het
Fgd3 C T 13: 49,450,000 (GRCm39) S83N probably benign Het
Il27ra A T 8: 84,766,128 (GRCm39) S219T probably benign Het
Itprid2 A G 2: 79,487,690 (GRCm39) D591G probably benign Het
Kif15 T C 9: 122,826,862 (GRCm39) V800A probably damaging Het
Lmo7 T A 14: 102,137,996 (GRCm39) D666E probably damaging Het
Lrp5 T C 19: 3,678,295 (GRCm39) D520G probably damaging Het
Lrriq3 T A 3: 154,893,934 (GRCm39) M545K probably benign Het
Lsm5 T A 6: 56,680,310 (GRCm39) D44V probably damaging Het
Man1c1 G T 4: 134,296,379 (GRCm39) Y430* probably null Het
Map4 T A 9: 109,866,346 (GRCm39) probably null Het
Megf6 A G 4: 154,343,398 (GRCm39) K561R probably benign Het
Myo1e T C 9: 70,229,680 (GRCm39) Y173H probably damaging Het
Myo6 T A 9: 80,190,823 (GRCm39) S791R possibly damaging Het
Nol11 C A 11: 107,075,597 (GRCm39) E144* probably null Het
Ntng2 C T 2: 29,087,074 (GRCm39) R416Q probably damaging Het
Nxpe3 T A 16: 55,686,880 (GRCm39) I43F possibly damaging Het
Or4g17 T A 2: 111,209,837 (GRCm39) V164E possibly damaging Het
Or5t5 A T 2: 86,616,691 (GRCm39) T206S possibly damaging Het
Pkd1l2 T C 8: 117,808,999 (GRCm39) I64V probably damaging Het
Prf1 G A 10: 61,136,033 (GRCm39) R103H probably benign Het
Rest A G 5: 77,428,874 (GRCm39) D431G probably damaging Het
Serpina10 A T 12: 103,583,127 (GRCm39) L439Q probably damaging Het
Sgk3 T G 1: 9,951,804 (GRCm39) V176G probably damaging Het
Slc19a3 A G 1: 83,000,454 (GRCm39) S188P probably damaging Het
Sorbs1 A G 19: 40,338,392 (GRCm39) I336T probably damaging Het
Strip1 C T 3: 107,527,355 (GRCm39) probably null Het
Syt4 T C 18: 31,576,799 (GRCm39) E185G possibly damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tgfbr3l G T 8: 4,299,439 (GRCm39) R74L possibly damaging Het
Thoc7 A G 14: 13,949,282 (GRCm38) M194T probably benign Het
Thsd7b T C 1: 129,879,129 (GRCm39) Y989H probably damaging Het
Tmem156 C T 5: 65,233,161 (GRCm39) V134I probably benign Het
Tnks A T 8: 35,320,457 (GRCm39) V738E probably benign Het
Trpm6 A T 19: 18,770,240 (GRCm39) I342F probably damaging Het
Vmn2r69 A T 7: 85,060,711 (GRCm39) V291D probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Wnk1 T C 6: 119,928,953 (GRCm39) T1292A probably damaging Het
Yes1 T A 5: 32,812,584 (GRCm39) C285S probably benign Het
Zbed6 T C 1: 133,586,472 (GRCm39) I288M probably damaging Het
Zbtb49 T C 5: 38,371,263 (GRCm39) N206S 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
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'- GATTGCACCACCACACCTAGCTTT -3'
(R):5'- GAATGTACTGTGTCACCTATGCCCAC -3'

Sequencing Primer
(F):5'- ctaatactagcgaaatagaagcagg -3'
(R):5'- gacctgcctctgcctcc -3'
Posted On 2013-06-12