Incidental Mutation 'IGL02695:Gm6614'
ID303890
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: 0.076) question?
Stock #IGL02695
Quality Score
Status
Chromosome6
Chromosomal Location141971845-142011414 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141987760 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 433 (V433A)
Ref Sequence ENSEMBL: ENSMUSP00000137696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]
Predicted Effect probably damaging
Transcript: ENSMUST00000111832
AA Change: V433A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: V433A

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 noncoding transcript
Transcript: ENSMUST00000158991
Predicted Effect probably damaging
Transcript: ENSMUST00000181628
AA Change: V453A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: V453A

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: V433A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: V433A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,050,480 M389K probably benign Het
Adamts4 C A 1: 171,252,634 T252K probably damaging Het
Adgrb2 G A 4: 130,018,832 G1293D probably damaging Het
Ankfn1 T C 11: 89,391,819 E1013G probably damaging Het
Ankrd34b C A 13: 92,439,612 H451N possibly damaging Het
Cd300c2 C T 11: 115,001,553 probably benign Het
Cntnap3 T G 13: 64,772,132 Q637P probably benign Het
Cpne6 A T 14: 55,514,580 I265F probably damaging Het
Dot1l C A 10: 80,777,608 T18K probably damaging Het
Fam83c T C 2: 155,831,515 D251G probably benign Het
Fyb A G 15: 6,580,921 K325R probably damaging Het
Gas2l2 T A 11: 83,422,642 I615F probably damaging Het
Gigyf2 A G 1: 87,416,827 N494S probably benign Het
Gnaz T C 10: 74,992,142 probably null Het
Haus5 A T 7: 30,663,277 L36Q probably damaging Het
Hecw2 C T 1: 53,926,209 G486D possibly damaging Het
Hmcn2 T C 2: 31,408,973 F2777S possibly damaging Het
Il1rl1 T C 1: 40,446,558 S290P possibly damaging Het
Itgam G T 7: 128,085,941 A409S possibly damaging Het
Kdm5b T A 1: 134,604,485 M467K possibly damaging Het
Lama2 A C 10: 27,000,775 V2725G probably benign Het
Lhpp G A 7: 132,650,334 R234Q probably damaging Het
Maf1 T C 15: 76,352,755 S65P possibly damaging Het
Mgat5 T A 1: 127,412,131 H416Q probably damaging Het
Mta2 A G 19: 8,948,364 T408A probably benign Het
Neb T A 2: 52,255,591 I2974F probably damaging Het
Neb C T 2: 52,211,596 probably benign Het
Olfr153 C T 2: 87,532,117 T28I probably benign Het
Olfr348 C T 2: 36,787,320 S265L possibly damaging Het
Olfr656 A G 7: 104,618,471 H264R probably damaging Het
Olfr710 A G 7: 106,944,663 S113P possibly damaging Het
Pcca T A 14: 122,582,738 probably benign Het
Prlr T C 15: 10,328,365 F309L probably benign Het
Slc28a1 A T 7: 81,167,991 Y536F probably benign Het
Stab1 T A 14: 31,159,271 N601Y probably damaging Het
Stil G T 4: 115,016,175 V332F probably damaging Het
Stk11 A G 10: 80,125,477 probably null Het
Tmem59 A G 4: 107,193,314 N147S 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
IGL02851:Gm6614 APN 6 142003471 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
Posted On2015-04-16