Incidental Mutation 'IGL03036:Gm6614'
ID408669
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: 0.081) question?
Stock #IGL03036
Quality Score
Status
Chromosome6
Chromosomal Location141971845-142011414 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 142008607 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 47 (I47L)
Ref Sequence ENSEMBL: ENSMUSP00000137696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111832
AA Change: I47L

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: I47L

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 possibly damaging
Transcript: ENSMUST00000181628
AA Change: I67L

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: I67L

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 possibly damaging
Transcript: ENSMUST00000181791
AA Change: I47L

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: I47L

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,585,700 Y145* probably null Het
Afdn T G 17: 13,888,088 I1291S probably benign Het
Arfgap3 T G 15: 83,306,926 I16L possibly damaging Het
Bbs12 T A 3: 37,319,194 H45Q possibly damaging Het
Brpf3 T C 17: 28,824,048 L1021P possibly damaging Het
Cep170 A G 1: 176,769,337 S485P possibly damaging Het
Cgref1 A T 5: 30,933,593 N292K probably damaging Het
Chst3 A T 10: 60,186,439 Y195* probably null Het
Clmn T C 12: 104,774,523 Y125C probably damaging Het
Col13a1 A G 10: 61,893,913 probably null Het
Cpeb3 A T 19: 37,024,948 I688N probably damaging Het
Cpn2 A T 16: 30,260,829 L18H probably benign Het
Crybg3 T A 16: 59,555,179 H1904L possibly damaging Het
Csde1 C T 3: 103,043,839 P249S probably damaging Het
Dcaf1 T C 9: 106,844,140 L377P probably damaging Het
Dmwd A T 7: 19,081,129 K568M probably damaging Het
Dsg2 T C 18: 20,579,077 I90T probably damaging Het
Dytn A G 1: 63,641,122 I426T probably damaging Het
Edc4 G A 8: 105,887,311 probably null Het
Elac1 G T 18: 73,738,914 Q337K probably benign Het
Exd2 G T 12: 80,489,411 A272S probably damaging Het
F13b A G 1: 139,508,115 I220V possibly damaging Het
Fblim1 G T 4: 141,583,124 R276S possibly damaging Het
Fn1 A C 1: 71,629,773 L671R probably damaging Het
Frem1 A T 4: 82,959,339 F1334I possibly damaging Het
H2-T23 T A 17: 36,032,357 I43F possibly damaging Het
Hp1bp3 G A 4: 138,228,732 G202D probably damaging Het
Kdm5b A G 1: 134,608,937 M632V probably damaging Het
Klra5 T A 6: 129,908,867 S20C probably damaging Het
Lancl1 A T 1: 67,006,915 C276S probably damaging Het
Lect2 A G 13: 56,542,707 *152Q probably null Het
Maff C A 15: 79,357,458 S25* probably null Het
Mtr A G 13: 12,247,377 L171P probably damaging Het
Ndufs1 A T 1: 63,163,696 Y236* probably null Het
Neb A C 2: 52,244,153 Y3273D probably damaging Het
Nup133 A T 8: 123,946,594 I66K probably benign Het
Olfr1215 T C 2: 89,002,115 M58V possibly damaging Het
Psmd14 A G 2: 61,783,861 Y200C probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Ptk2b T A 14: 66,173,895 probably benign Het
Pum3 G A 19: 27,421,313 T279M probably damaging Het
Rabl6 C T 2: 25,584,856 G614D probably benign Het
Ripk3 T C 14: 55,787,339 D128G probably benign Het
Serinc4 A T 2: 121,439,558 probably benign Het
Sorbs2 T C 8: 45,782,865 S322P probably benign Het
Srebf1 A T 11: 60,220,458 I29N possibly damaging Het
Stk38l T C 6: 146,768,874 L238S probably damaging Het
Supt20 T A 3: 54,709,302 C298* probably null Het
Tbc1d19 A G 5: 53,897,047 D459G probably damaging Het
Thegl A C 5: 77,016,350 K67Q possibly damaging Het
Ulk2 A T 11: 61,834,834 L139M probably damaging Het
Unc13b A G 4: 43,235,249 N3279S probably damaging Het
Ush2a A G 1: 188,864,621 R3853G possibly damaging Het
Usp7 C T 16: 8,738,214 M24I probably benign Het
Vil1 A G 1: 74,419,612 T131A probably damaging Het
Vmn2r2 C T 3: 64,116,900 M753I probably benign Het
Vmn2r74 A T 7: 85,952,692 Y579* probably null Het
Zdhhc3 A T 9: 123,100,517 Y18N probably damaging Het
Zfp609 C T 9: 65,702,645 S1012N possibly damaging Het
Zfr2 A T 10: 81,242,151 M271L 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
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
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
R7949:Gm6614 UTSW 6 141994265 missense probably damaging 1.00
R8079:Gm6614 UTSW 6 141987734 missense probably benign 0.00
R8095:Gm6614 UTSW 6 141987689 missense probably benign 0.39
R8472:Gm6614 UTSW 6 142003389 missense probably damaging 1.00
R8687:Gm6614 UTSW 6 141994265 missense probably damaging 0.98
R8788:Gm6614 UTSW 6 141987844 missense probably benign 0.00
R8869:Gm6614 UTSW 6 141982084 missense probably damaging 0.96
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 On2016-08-02