Incidental Mutation 'IGL02851:Gm6614'
ID361894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm6614
Ensembl Gene ENSMUSG00000079263
Gene Namepredicted gene 6614
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02851
Quality Score
Status
Chromosome6
Chromosomal Location141971845-142011414 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 142003471 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 60 (G60R)
Ref Sequence ENSEMBL: ENSMUSP00000137696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]
Predicted Effect probably damaging
Transcript: ENSMUST00000111832
AA Change: G60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: G60R

DomainStartEndE-ValueType
Pfam:OATP 1 577 2.5e-156 PFAM
Pfam:MFS_1 125 402 1e-23 PFAM
Pfam:Kazal_2 425 466 4.1e-9 PFAM
transmembrane domain 580 602 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000181628
AA Change: G80R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: G80R

DomainStartEndE-ValueType
Pfam:OATP 19 598 2.8e-187 PFAM
Pfam:MFS_1 145 422 8e-24 PFAM
Pfam:Kazal_2 445 486 1.1e-7 PFAM
transmembrane domain 600 622 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000181791
AA Change: G60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: G60R

DomainStartEndE-ValueType
Pfam:OATP 1 578 2.3e-186 PFAM
Pfam:MFS_1 125 402 8.6e-24 PFAM
Pfam:Kazal_2 425 466 1.4e-7 PFAM
transmembrane domain 580 602 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 T C 12: 112,657,084 E314G probably damaging Het
Amtn C A 5: 88,381,622 Q106K probably benign Het
Birc6 T C 17: 74,609,189 F1700S probably damaging Het
Brdt T C 5: 107,377,995 S905P possibly damaging Het
Ccdc68 C T 18: 69,947,165 Q194* probably null Het
Cdc27 A G 11: 104,526,981 probably benign Het
Cdh13 A G 8: 118,675,158 T100A probably benign Het
Cdsn A G 17: 35,555,894 H440R possibly damaging Het
Cenpf C A 1: 189,658,030 D1202Y probably damaging Het
Chat C A 14: 32,458,613 V21L probably benign Het
Clca4c-ps T A 3: 144,879,732 noncoding transcript Het
Cst9 A G 2: 148,835,283 I25V probably benign Het
Dennd1b C A 1: 139,168,967 probably benign Het
Dnah9 A G 11: 66,037,744 probably benign Het
Dpp3 T G 19: 4,923,131 Q145P probably benign Het
Elovl5 C T 9: 77,981,502 T217M probably damaging Het
Etl4 T C 2: 20,808,029 V906A possibly damaging Het
Gm10647 C T 9: 66,798,261 probably benign Het
Grm5 A G 7: 88,074,710 N736S probably damaging Het
Hectd1 A G 12: 51,767,640 S1638P possibly damaging Het
Hsd3b2 T G 3: 98,716,424 E46A possibly damaging Het
Igkv15-103 A G 6: 68,437,690 T38A probably benign Het
Itpr2 C A 6: 146,385,979 V450L probably damaging Het
Kbtbd12 T C 6: 88,618,329 H173R probably benign Het
Man1a G A 10: 53,919,244 R638W probably damaging Het
Mterf2 A T 10: 85,120,014 S249T probably damaging Het
Muc6 T C 7: 141,648,361 D700G probably damaging Het
Myh13 A G 11: 67,348,916 H764R possibly damaging Het
Myh7b A G 2: 155,628,827 D1065G probably damaging Het
Naip1 C A 13: 100,433,262 W288L probably damaging Het
Naip6 C A 13: 100,300,660 A452S probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Olfr63 T A 17: 33,269,354 I210K probably benign Het
Olfr90 T C 17: 37,086,156 probably null Het
Os9 G A 10: 127,099,393 probably benign Het
Parp4 T C 14: 56,648,869 S1802P unknown Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Plekha7 G T 7: 116,135,178 A1024E probably damaging Het
R3hdm1 T C 1: 128,174,940 probably benign Het
Robo4 T C 9: 37,413,382 S1022P probably damaging Het
Sc5d T C 9: 42,255,394 N283S probably benign Het
Scn10a C T 9: 119,671,608 V202M probably damaging Het
Spag16 T C 1: 70,264,908 I366T possibly damaging Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Tlr9 C T 9: 106,224,730 Q407* probably null Het
Trappc12 G A 12: 28,691,406 S768L probably damaging Het
Vmn2r44 A T 7: 8,383,051 L63Q probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Gm6614
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01354:Gm6614 APN 6 141990408 missense probably benign 0.00
IGL01548:Gm6614 APN 6 141992512 missense possibly damaging 0.82
IGL01552:Gm6614 APN 6 141987706 missense possibly damaging 0.54
IGL02207:Gm6614 APN 6 141990432 missense possibly damaging 0.80
IGL02227:Gm6614 APN 6 141993675 nonsense probably null
IGL02547:Gm6614 APN 6 141990390 missense probably damaging 0.99
IGL02678:Gm6614 APN 6 142008718 missense probably damaging 1.00
IGL02695:Gm6614 APN 6 141987760 missense probably damaging 1.00
IGL02881:Gm6614 APN 6 141972243 missense probably benign 0.00
IGL02898:Gm6614 APN 6 141994297 missense probably benign 0.01
IGL03036:Gm6614 APN 6 142008607 missense possibly damaging 0.69
IGL03065:Gm6614 APN 6 141992502 missense probably damaging 0.99
IGL03300:Gm6614 APN 6 141994806 missense probably damaging 0.96
R0020:Gm6614 UTSW 6 141972350 missense possibly damaging 0.93
R0020:Gm6614 UTSW 6 141972350 missense possibly damaging 0.93
R0049:Gm6614 UTSW 6 141990421 missense probably benign
R0049:Gm6614 UTSW 6 141990421 missense probably benign
R0149:Gm6614 UTSW 6 141992477 missense probably benign 0.01
R0270:Gm6614 UTSW 6 141972411 missense possibly damaging 0.88
R0360:Gm6614 UTSW 6 141982327 splice site probably benign
R0420:Gm6614 UTSW 6 141985477 splice site probably benign
R0737:Gm6614 UTSW 6 142003428 missense possibly damaging 0.79
R1344:Gm6614 UTSW 6 141985618 missense probably damaging 1.00
R1464:Gm6614 UTSW 6 141992517 nonsense probably null
R1464:Gm6614 UTSW 6 141992517 nonsense probably null
R1590:Gm6614 UTSW 6 141980872 missense probably benign 0.00
R1666:Gm6614 UTSW 6 141982049 splice site probably null
R1669:Gm6614 UTSW 6 141987689 missense probably benign 0.39
R1862:Gm6614 UTSW 6 142003423 missense possibly damaging 0.95
R1882:Gm6614 UTSW 6 141993637 critical splice donor site probably null
R2134:Gm6614 UTSW 6 141980978 missense probably damaging 1.00
R2155:Gm6614 UTSW 6 141980944 missense probably damaging 1.00
R2163:Gm6614 UTSW 6 141980938 missense possibly damaging 0.55
R2227:Gm6614 UTSW 6 141992361 missense possibly damaging 0.67
R2382:Gm6614 UTSW 6 141990480 missense probably benign 0.00
R3773:Gm6614 UTSW 6 141972335 missense probably benign 0.17
R4869:Gm6614 UTSW 6 141987766 missense probably damaging 1.00
R4975:Gm6614 UTSW 6 141980873 missense probably benign 0.30
R5061:Gm6614 UTSW 6 142008688 missense probably benign 0.03
R5079:Gm6614 UTSW 6 141972347 missense probably benign 0.00
R5312:Gm6614 UTSW 6 141972332 missense probably benign 0.00
R5691:Gm6614 UTSW 6 141994855 nonsense probably null
R5874:Gm6614 UTSW 6 141972235 missense probably benign 0.00
R5945:Gm6614 UTSW 6 141994282 missense probably damaging 1.00
R6478:Gm6614 UTSW 6 141993642 missense possibly damaging 0.93
R7305:Gm6614 UTSW 6 141992494 missense probably damaging 1.00
R7325:Gm6614 UTSW 6 141989225 missense probably damaging 0.98
R7427:Gm6614 UTSW 6 142003508 critical splice acceptor site probably null
R7728:Gm6614 UTSW 6 141987710 nonsense probably null
RF021:Gm6614 UTSW 6 142008714 missense probably damaging 0.98
Z1176:Gm6614 UTSW 6 141990348 missense probably benign 0.01
Z1177:Gm6614 UTSW 6 141994202 missense probably damaging 1.00
Posted On2015-12-18