Incidental Mutation 'IGL02209:Garnl3'
ID284618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Garnl3
Ensembl Gene ENSMUSG00000038860
Gene NameGTPase activating RANGAP domain-like 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.538) question?
Stock #IGL02209
Quality Score
Status
Chromosome2
Chromosomal Location32986224-33131654 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33085930 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 93 (D93G)
Ref Sequence ENSEMBL: ENSMUSP00000123601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049618] [ENSMUST00000102810] [ENSMUST00000124000] [ENSMUST00000127509] [ENSMUST00000133135] [ENSMUST00000137381]
Predicted Effect probably benign
Transcript: ENSMUST00000049618
AA Change: D12G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: D12G

DomainStartEndE-ValueType
Pfam:Rap_GAP 202 383 3.4e-73 PFAM
Pfam:CNH 475 780 3.5e-67 PFAM
low complexity region 793 804 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102810
AA Change: D8G

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: D8G

DomainStartEndE-ValueType
Pfam:Rap_GAP 198 385 4.6e-67 PFAM
Pfam:CNH 471 776 1.8e-68 PFAM
low complexity region 789 800 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124000
AA Change: D93G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123601
Gene: ENSMUSG00000038860
AA Change: D93G

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127509
Predicted Effect possibly damaging
Transcript: ENSMUST00000133135
AA Change: D53G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135296
Predicted Effect probably benign
Transcript: ENSMUST00000137381
AA Change: D53G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148043
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 35,964,009 R82Q probably damaging Het
Acmsd A G 1: 127,759,755 Y258C probably damaging Het
Anapc5 A G 5: 122,800,613 I366T possibly damaging Het
Crkl C T 16: 17,469,234 T218I probably benign Het
Egf A T 3: 129,707,307 I213K possibly damaging Het
Fry A G 5: 150,437,026 T33A probably benign Het
Hook3 C T 8: 26,070,265 D311N probably damaging Het
Iglv3 T C 16: 19,241,670 T4A probably benign Het
Kctd17 A G 15: 78,435,592 N70S probably damaging Het
Kmt2d T C 15: 98,854,567 probably benign Het
Lrif1 A C 3: 106,731,729 L18F probably damaging Het
Mfsd1 A G 3: 67,598,132 probably benign Het
Msh4 A G 3: 153,888,862 Y101H probably damaging Het
Mycbpap G A 11: 94,509,882 probably benign Het
Myt1 A G 2: 181,797,234 D183G probably benign Het
Nppc T C 1: 86,669,665 *127W probably null Het
Olfr119 G A 17: 37,700,992 M107I probably damaging Het
Olfr138 A G 17: 38,275,232 I154V probably benign Het
Olfr356 C T 2: 36,937,505 P129S probably damaging Het
Olfr641 T G 7: 104,040,456 L220R probably damaging Het
Olfr918 T C 9: 38,673,046 K146E possibly damaging Het
Pde5a A G 3: 122,825,015 probably benign Het
Pkd1l3 T C 8: 109,638,664 V1139A probably damaging Het
Pwwp2b G A 7: 139,255,105 R154Q probably damaging Het
Satb2 C T 1: 56,871,518 V264I probably damaging Het
Slc6a2 T A 8: 92,994,060 F435Y probably benign Het
Stmn2 T C 3: 8,560,261 probably benign Het
Synj1 A G 16: 90,987,419 I277T probably damaging Het
Trio C T 15: 27,744,053 A2598T probably damaging Het
Tshz2 G A 2: 169,884,764 V427M probably damaging Het
Utrn A G 10: 12,683,295 S1405P probably damaging Het
Vmn1r173 G A 7: 23,703,161 V274I probably benign Het
Vmn2r116 T C 17: 23,388,787 F443S probably damaging Het
Vps13d C A 4: 145,156,101 R974L probably damaging Het
Wapl T A 14: 34,677,261 S96T possibly damaging Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zfp692 C T 11: 58,313,998 R395* probably null Het
Other mutations in Garnl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Garnl3 APN 2 33006816 missense probably damaging 1.00
IGL01601:Garnl3 APN 2 32997689 nonsense probably null
IGL01981:Garnl3 APN 2 32997729 missense probably damaging 0.98
IGL02434:Garnl3 APN 2 33054205 missense probably damaging 1.00
IGL02512:Garnl3 APN 2 33031138 missense probably damaging 1.00
IGL02947:Garnl3 APN 2 33046594 missense probably damaging 1.00
R0123:Garnl3 UTSW 2 33006804 missense possibly damaging 0.92
R0134:Garnl3 UTSW 2 33006804 missense possibly damaging 0.92
R0225:Garnl3 UTSW 2 33006804 missense possibly damaging 0.92
R0551:Garnl3 UTSW 2 33016738 missense probably damaging 1.00
R0691:Garnl3 UTSW 2 33085907 missense probably damaging 1.00
R0693:Garnl3 UTSW 2 33085907 missense probably damaging 1.00
R0737:Garnl3 UTSW 2 32990642 missense probably damaging 0.98
R1350:Garnl3 UTSW 2 33052214 missense probably damaging 1.00
R1691:Garnl3 UTSW 2 32997663 nonsense probably null
R1791:Garnl3 UTSW 2 33034127 missense probably benign 0.02
R1938:Garnl3 UTSW 2 33005200 missense probably damaging 0.99
R2100:Garnl3 UTSW 2 33046645 missense probably benign 0.35
R2316:Garnl3 UTSW 2 33005152 missense probably damaging 1.00
R2353:Garnl3 UTSW 2 33064034 missense probably damaging 1.00
R3161:Garnl3 UTSW 2 33034711 missense probably damaging 1.00
R3839:Garnl3 UTSW 2 32989546 missense probably benign 0.00
R3847:Garnl3 UTSW 2 32992228 missense probably benign
R4871:Garnl3 UTSW 2 33087088 start codon destroyed probably null 0.77
R5682:Garnl3 UTSW 2 33054173 missense probably damaging 1.00
R5811:Garnl3 UTSW 2 33006899 missense probably damaging 0.99
R6267:Garnl3 UTSW 2 33104880 missense probably benign 0.20
R6502:Garnl3 UTSW 2 33006821 missense possibly damaging 0.67
R6532:Garnl3 UTSW 2 33031119 missense possibly damaging 0.87
R6639:Garnl3 UTSW 2 32989525 missense possibly damaging 0.75
R6763:Garnl3 UTSW 2 33054196 missense probably damaging 1.00
R6866:Garnl3 UTSW 2 33002773 splice site probably null
R6913:Garnl3 UTSW 2 32986829 missense possibly damaging 0.91
X0022:Garnl3 UTSW 2 33022668 missense probably damaging 1.00
X0023:Garnl3 UTSW 2 33026149 missense probably damaging 1.00
X0024:Garnl3 UTSW 2 33005179 missense probably damaging 0.98
Posted On2015-04-16