Incidental Mutation 'IGL03285:Garre1'
ID 415692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Garre1
Ensembl Gene ENSMUSG00000066571
Gene Name granule associated Rac and RHOG effector 1
Synonyms 4931406P16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03285
Quality Score
Status
Chromosome 7
Chromosomal Location 33936132-34012976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33984416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 69 (H69R)
Ref Sequence ENSEMBL: ENSMUSP00000103709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085592] [ENSMUST00000108074] [ENSMUST00000206399]
AlphaFold Q8C5X1
Predicted Effect possibly damaging
Transcript: ENSMUST00000085592
AA Change: H69R

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: H69R

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
Pfam:DUF4745 59 187 1.3e-57 PFAM
low complexity region 319 332 N/A INTRINSIC
low complexity region 592 602 N/A INTRINSIC
low complexity region 677 696 N/A INTRINSIC
low complexity region 699 729 N/A INTRINSIC
low complexity region 771 786 N/A INTRINSIC
low complexity region 856 868 N/A INTRINSIC
low complexity region 890 913 N/A INTRINSIC
low complexity region 940 951 N/A INTRINSIC
low complexity region 1026 1049 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108074
AA Change: H69R

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: H69R

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
low complexity region 319 332 N/A INTRINSIC
low complexity region 592 602 N/A INTRINSIC
low complexity region 677 696 N/A INTRINSIC
low complexity region 699 729 N/A INTRINSIC
low complexity region 771 786 N/A INTRINSIC
low complexity region 856 868 N/A INTRINSIC
low complexity region 890 913 N/A INTRINSIC
low complexity region 940 951 N/A INTRINSIC
low complexity region 1026 1049 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206018
Predicted Effect probably benign
Transcript: ENSMUST00000206399
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Atp7a A T X: 105,153,381 (GRCm39) E1094D probably benign Het
Carf A G 1: 60,185,313 (GRCm39) T453A probably damaging Het
Catsperg1 T C 7: 28,897,597 (GRCm39) N229S possibly damaging Het
Ctdspl2 T C 2: 121,817,480 (GRCm39) Y176H probably damaging Het
Dnah7b A T 1: 46,221,535 (GRCm39) N1213I probably benign Het
Fgfr3 G A 5: 33,892,557 (GRCm39) R726H probably damaging Het
Gm1527 A T 3: 28,974,566 (GRCm39) I460F probably damaging Het
Gm382 T C X: 125,969,318 (GRCm39) I501T possibly damaging Het
Igfl3 T C 7: 17,914,172 (GRCm39) probably benign Het
Igkv2-109 T C 6: 68,279,902 (GRCm39) I41T probably damaging Het
Itga4 A C 2: 79,109,510 (GRCm39) K236N possibly damaging Het
Kcnj1 A T 9: 32,308,157 (GRCm39) T174S possibly damaging Het
Kif17 A G 4: 137,996,301 (GRCm39) T93A probably damaging Het
Lamc1 G T 1: 153,103,431 (GRCm39) N1378K possibly damaging Het
Ldlrad2 T C 4: 137,300,955 (GRCm39) M28V probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Met T C 6: 17,553,336 (GRCm39) S1041P probably damaging Het
Nscme3l A G 19: 5,553,205 (GRCm39) L192P probably damaging Het
Rimbp3 T C 16: 17,031,096 (GRCm39) S1507P probably benign Het
Slc7a2 A G 8: 41,368,030 (GRCm39) D598G possibly damaging Het
Tdo2 A G 3: 81,866,096 (GRCm39) probably null Het
Ugt2b37 T C 5: 87,388,734 (GRCm39) D493G probably damaging Het
Vps50 G A 6: 3,555,011 (GRCm39) V395I possibly damaging Het
Other mutations in Garre1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Garre1 APN 7 33,945,412 (GRCm39) splice site probably benign
IGL00160:Garre1 APN 7 33,938,431 (GRCm39) missense possibly damaging 0.88
IGL00691:Garre1 APN 7 33,944,910 (GRCm39) missense probably damaging 1.00
IGL01312:Garre1 APN 7 33,955,933 (GRCm39) missense probably benign 0.19
IGL01954:Garre1 APN 7 33,944,460 (GRCm39) missense probably damaging 1.00
IGL02016:Garre1 APN 7 33,938,526 (GRCm39) missense possibly damaging 0.74
IGL02390:Garre1 APN 7 33,947,643 (GRCm39) missense probably damaging 1.00
IGL02407:Garre1 APN 7 33,955,909 (GRCm39) missense probably damaging 0.99
IGL02677:Garre1 APN 7 33,941,834 (GRCm39) splice site probably benign
IGL02929:Garre1 APN 7 33,944,507 (GRCm39) missense possibly damaging 0.46
I1329:Garre1 UTSW 7 33,944,619 (GRCm39) missense probably benign 0.00
R0004:Garre1 UTSW 7 33,955,853 (GRCm39) missense probably damaging 0.99
R0100:Garre1 UTSW 7 33,953,436 (GRCm39) missense possibly damaging 0.95
R0100:Garre1 UTSW 7 33,953,436 (GRCm39) missense possibly damaging 0.95
R0135:Garre1 UTSW 7 33,945,382 (GRCm39) missense probably damaging 1.00
R0137:Garre1 UTSW 7 33,938,644 (GRCm39) missense probably damaging 1.00
R0556:Garre1 UTSW 7 33,939,222 (GRCm39) missense probably damaging 0.99
R0687:Garre1 UTSW 7 33,944,843 (GRCm39) missense possibly damaging 0.95
R0928:Garre1 UTSW 7 33,947,671 (GRCm39) splice site probably null
R1719:Garre1 UTSW 7 33,947,631 (GRCm39) missense probably damaging 0.98
R1908:Garre1 UTSW 7 33,957,461 (GRCm39) missense probably benign 0.14
R1909:Garre1 UTSW 7 33,957,461 (GRCm39) missense probably benign 0.14
R1976:Garre1 UTSW 7 33,956,805 (GRCm39) missense probably damaging 0.99
R2496:Garre1 UTSW 7 33,955,916 (GRCm39) missense possibly damaging 0.93
R3005:Garre1 UTSW 7 33,984,209 (GRCm39) missense probably damaging 1.00
R4666:Garre1 UTSW 7 33,984,198 (GRCm39) missense probably damaging 0.98
R4832:Garre1 UTSW 7 33,938,333 (GRCm39) utr 3 prime probably benign
R4870:Garre1 UTSW 7 33,984,312 (GRCm39) missense possibly damaging 0.83
R4989:Garre1 UTSW 7 33,945,225 (GRCm39) missense probably damaging 1.00
R5033:Garre1 UTSW 7 33,945,237 (GRCm39) missense probably benign
R5308:Garre1 UTSW 7 33,945,180 (GRCm39) nonsense probably null
R5366:Garre1 UTSW 7 33,941,713 (GRCm39) missense possibly damaging 0.74
R5386:Garre1 UTSW 7 33,941,813 (GRCm39) missense probably damaging 0.99
R5688:Garre1 UTSW 7 33,953,416 (GRCm39) missense possibly damaging 0.74
R5688:Garre1 UTSW 7 33,984,134 (GRCm39) missense probably damaging 0.99
R5714:Garre1 UTSW 7 33,939,941 (GRCm39) nonsense probably null
R5733:Garre1 UTSW 7 33,944,505 (GRCm39) missense probably damaging 0.99
R5772:Garre1 UTSW 7 33,953,413 (GRCm39) missense probably damaging 0.97
R6059:Garre1 UTSW 7 33,944,888 (GRCm39) missense possibly damaging 0.90
R6211:Garre1 UTSW 7 33,938,429 (GRCm39) missense possibly damaging 0.95
R6276:Garre1 UTSW 7 33,941,802 (GRCm39) nonsense probably null
R6477:Garre1 UTSW 7 33,957,055 (GRCm39) critical splice donor site probably null
R6757:Garre1 UTSW 7 33,938,502 (GRCm39) missense possibly damaging 0.89
R6912:Garre1 UTSW 7 33,945,093 (GRCm39) missense probably benign
R7156:Garre1 UTSW 7 33,945,133 (GRCm39) missense possibly damaging 0.80
R7317:Garre1 UTSW 7 33,963,072 (GRCm39) missense probably benign
R7431:Garre1 UTSW 7 33,984,219 (GRCm39) missense possibly damaging 0.73
R7452:Garre1 UTSW 7 33,945,096 (GRCm39) missense probably benign
R7996:Garre1 UTSW 7 33,963,024 (GRCm39) missense possibly damaging 0.77
R8348:Garre1 UTSW 7 33,984,569 (GRCm39) missense probably damaging 1.00
R8448:Garre1 UTSW 7 33,984,569 (GRCm39) missense probably damaging 1.00
R8989:Garre1 UTSW 7 33,956,869 (GRCm39) missense probably damaging 0.99
R9010:Garre1 UTSW 7 33,938,491 (GRCm39) missense probably benign 0.01
R9095:Garre1 UTSW 7 33,956,770 (GRCm39) critical splice donor site probably null
R9505:Garre1 UTSW 7 33,984,371 (GRCm39) missense probably damaging 1.00
R9530:Garre1 UTSW 7 33,963,069 (GRCm39) missense probably benign 0.01
R9612:Garre1 UTSW 7 33,947,656 (GRCm39) missense probably damaging 1.00
RF019:Garre1 UTSW 7 33,939,974 (GRCm39) missense probably damaging 0.98
X0021:Garre1 UTSW 7 33,944,788 (GRCm39) missense possibly damaging 0.94
Z1177:Garre1 UTSW 7 33,984,180 (GRCm39) missense probably damaging 0.96
Z1186:Garre1 UTSW 7 33,945,185 (GRCm39) missense probably benign
Z1186:Garre1 UTSW 7 33,938,583 (GRCm39) missense probably benign 0.03
Z1186:Garre1 UTSW 7 33,938,533 (GRCm39) missense probably benign
Z1191:Garre1 UTSW 7 33,945,185 (GRCm39) missense probably benign
Z1191:Garre1 UTSW 7 33,938,583 (GRCm39) missense probably benign 0.03
Z1191:Garre1 UTSW 7 33,938,533 (GRCm39) missense probably benign
Posted On 2016-08-02