Incidental Mutation 'IGL03242:BC027072'
ID414902
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC027072
Ensembl Gene ENSMUSG00000044375
Gene NamecDNA sequence BC027072
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL03242
Quality Score
Status
Chromosome17
Chromosomal Location71743557-71752885 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71750271 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 804 (S804P)
Ref Sequence ENSEMBL: ENSMUSP00000051871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057405]
Predicted Effect probably benign
Transcript: ENSMUST00000057405
AA Change: S804P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: S804P

DomainStartEndE-ValueType
Pfam:Retinal 1 1255 N/A PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation, decreased a- and b-wave amplitudes, and nearly undetectable ERG responses by 8 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T C 6: 48,932,545 F575L possibly damaging Het
4930562C15Rik T C 16: 4,849,325 W221R unknown Het
Ank2 A G 3: 126,928,805 F1000L possibly damaging Het
Bahcc1 T C 11: 120,268,300 probably benign Het
BC024139 T C 15: 76,120,320 M679V probably benign Het
Carmil2 A G 8: 105,691,320 probably benign Het
Catsperg2 A G 7: 29,725,479 probably benign Het
Chrnb4 A T 9: 55,035,528 I154K probably damaging Het
Clec2e A C 6: 129,095,026 L130W probably damaging Het
Coro2b G T 9: 62,428,961 Y281* probably null Het
Dlk2 A G 17: 46,302,977 Y386C probably benign Het
Dnah7a A T 1: 53,620,723 F709I probably benign Het
Exoc1 T C 5: 76,559,007 L467P probably damaging Het
Fkbp2 A G 19: 6,978,612 V75A probably benign Het
Glud1 T C 14: 34,334,280 F304L probably benign Het
Gm11639 A C 11: 105,106,404 E140A probably damaging Het
Gsr T A 8: 33,685,599 V291E probably benign Het
Kap A G 6: 133,851,800 probably benign Het
Kmt2a G T 9: 44,848,392 T720N probably damaging Het
Lrrtm4 T C 6: 80,022,088 I161T probably benign Het
Lyst T A 13: 13,656,881 L1630* probably null Het
Med13l A G 5: 118,747,445 S1488G probably benign Het
Mlxip A G 5: 123,440,061 K147E probably damaging Het
Nalcn T C 14: 123,321,487 E810G possibly damaging Het
Olfr474 T C 7: 107,955,481 V280A possibly damaging Het
Olfr683 G A 7: 105,144,266 S15F probably benign Het
Olfr710 A G 7: 106,944,918 F28L possibly damaging Het
Piezo2 T C 18: 63,011,538 probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Serpina3j G A 12: 104,319,701 A372T possibly damaging Het
Slc28a3 G A 13: 58,574,249 Q274* probably null Het
Ssfa2 C T 2: 79,643,471 R189* probably null Het
Stk36 T C 1: 74,623,352 F543S possibly damaging Het
Tfrc T C 16: 32,630,112 S690P probably damaging Het
Tg C A 15: 66,683,798 Q780K probably damaging Het
Top1 T A 2: 160,715,733 H578Q probably damaging Het
Treh A G 9: 44,685,337 T463A possibly damaging Het
Treml1 G A 17: 48,365,988 probably benign Het
Trpm2 A G 10: 77,917,734 V1312A probably benign Het
Ttc41 T A 10: 86,776,819 *1319K probably null Het
Tulp2 A G 7: 45,521,858 I354M probably damaging Het
Ugt2b35 T C 5: 87,007,395 L363P probably damaging Het
Usp13 A T 3: 32,902,069 M496L probably benign Het
Virma T C 4: 11,527,669 S1187P possibly damaging Het
Wdr76 T A 2: 121,542,470 C593S probably damaging Het
Zfp446 G A 7: 12,979,325 A97T probably damaging Het
Other mutations in BC027072
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02010:BC027072 APN 17 71749464 missense probably benign 0.38
IGL02033:BC027072 APN 17 71751081 missense probably damaging 1.00
IGL02711:BC027072 APN 17 71749382 missense probably benign 0.15
IGL03185:BC027072 APN 17 71749337 missense probably damaging 0.98
R0367:BC027072 UTSW 17 71750476 missense probably damaging 1.00
R0413:BC027072 UTSW 17 71752217 missense probably benign 0.38
R0465:BC027072 UTSW 17 71750160 missense probably benign 0.42
R0535:BC027072 UTSW 17 71752439 missense probably benign 0.01
R0681:BC027072 UTSW 17 71749514 missense probably benign 0.00
R0736:BC027072 UTSW 17 71744664 missense probably benign 0.00
R1406:BC027072 UTSW 17 71749161 missense probably benign 0.18
R1406:BC027072 UTSW 17 71749161 missense probably benign 0.18
R1530:BC027072 UTSW 17 71749478 missense probably benign 0.01
R1723:BC027072 UTSW 17 71750378 missense probably damaging 1.00
R1941:BC027072 UTSW 17 71752068 missense probably damaging 1.00
R2179:BC027072 UTSW 17 71752526 missense probably damaging 1.00
R2232:BC027072 UTSW 17 71749284 missense probably benign 0.00
R2519:BC027072 UTSW 17 71751647 missense probably damaging 1.00
R2997:BC027072 UTSW 17 71744711 critical splice acceptor site probably benign
R3899:BC027072 UTSW 17 71750160 missense probably benign 0.00
R4890:BC027072 UTSW 17 71752311 missense possibly damaging 0.50
R4898:BC027072 UTSW 17 71751071 missense probably damaging 1.00
R5347:BC027072 UTSW 17 71749935 missense probably benign 0.00
R5436:BC027072 UTSW 17 71750842 missense probably damaging 1.00
R5527:BC027072 UTSW 17 71752640 missense probably damaging 1.00
R5556:BC027072 UTSW 17 71752425 missense possibly damaging 0.81
R5625:BC027072 UTSW 17 71751326 missense probably damaging 1.00
R5707:BC027072 UTSW 17 71751572 missense possibly damaging 0.90
R5932:BC027072 UTSW 17 71751753 missense probably damaging 1.00
R6043:BC027072 UTSW 17 71750042 missense probably damaging 1.00
R6314:BC027072 UTSW 17 71752457 missense probably benign 0.04
R6513:BC027072 UTSW 17 71744706 missense probably damaging 1.00
R7575:BC027072 UTSW 17 71750855 missense probably damaging 1.00
R7638:BC027072 UTSW 17 71750885 missense probably damaging 1.00
R7848:BC027072 UTSW 17 71749193 missense probably benign 0.04
R8317:BC027072 UTSW 17 71749202 missense probably benign 0.10
X0035:BC027072 UTSW 17 71744711 critical splice acceptor site probably benign
Z1177:BC027072 UTSW 17 71750403 missense probably damaging 1.00
Posted On2016-08-02