Incidental Mutation 'IGL02338:BC034090'
ID288959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC034090
Ensembl Gene ENSMUSG00000033722
Gene NamecDNA sequence BC034090
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL02338
Quality Score
Status
Chromosome1
Chromosomal Location155212471-155244444 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 155217471 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 747 (P747L)
Ref Sequence ENSEMBL: ENSMUSP00000037456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035914] [ENSMUST00000186156]
Predicted Effect probably damaging
Transcript: ENSMUST00000035914
AA Change: P747L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: P747L

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:DUF4685 44 168 6.6e-57 PFAM
low complexity region 486 500 N/A INTRINSIC
low complexity region 562 568 N/A INTRINSIC
low complexity region 640 652 N/A INTRINSIC
PDZ 830 905 4.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185937
Predicted Effect probably damaging
Transcript: ENSMUST00000186156
AA Change: P1109L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: P1109L

DomainStartEndE-ValueType
low complexity region 446 463 N/A INTRINSIC
low complexity region 779 793 N/A INTRINSIC
low complexity region 855 861 N/A INTRINSIC
low complexity region 933 945 N/A INTRINSIC
PDZ 1123 1198 2.2e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190976
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 133,062,549 C367Y possibly damaging Het
AI182371 T A 2: 35,085,716 I279L probably benign Het
Ambp A T 4: 63,143,697 C332S probably damaging Het
App T C 16: 85,173,519 T14A probably benign Het
Asap1 A T 15: 64,123,670 probably null Het
Aurka T C 2: 172,359,858 R242G probably benign Het
Bcl6b T C 11: 70,229,092 D23G probably damaging Het
Cabp2 A C 19: 4,084,154 E42A possibly damaging Het
Ccdc14 G A 16: 34,721,803 S557N probably benign Het
Ccdc146 G T 5: 21,319,606 probably benign Het
Cenpf T A 1: 189,680,418 Q216L probably damaging Het
Ces1b G A 8: 93,057,047 P515L possibly damaging Het
Col6a5 A T 9: 105,878,630 N2198K probably damaging Het
Csmd2 A G 4: 128,395,066 S1133G possibly damaging Het
Cspg5 G A 9: 110,256,267 R502H probably benign Het
Cyp2g1 A G 7: 26,814,804 probably benign Het
Dnajc27 A G 12: 4,096,229 Y86C probably damaging Het
Dnm1 T C 2: 32,312,771 D715G probably damaging Het
Dock1 G T 7: 135,133,075 L1317F possibly damaging Het
Fanci T A 7: 79,433,531 Y727* probably null Het
Fbxw20 T A 9: 109,225,978 T168S probably benign Het
Folh1 A T 7: 86,736,515 probably benign Het
Gas7 A T 11: 67,682,731 S379C probably damaging Het
Gbp2b A G 3: 142,604,226 E259G probably benign Het
Gm8325 T C 3: 60,877,384 noncoding transcript Het
Gm9268 T C 7: 43,047,736 I739T probably damaging Het
Gpr75 A T 11: 30,891,730 T212S probably benign Het
Itgb4 A G 11: 116,007,969 T1711A probably damaging Het
Ly75 T C 2: 60,354,452 S453G probably benign Het
Maneal A G 4: 124,860,483 probably benign Het
Marco A T 1: 120,494,779 I58N possibly damaging Het
Mtcl1 A G 17: 66,379,970 I647T probably damaging Het
Mtfr1l A T 4: 134,530,743 V56D probably damaging Het
Npy1r G A 8: 66,704,302 V125I probably damaging Het
Olfr348 C T 2: 36,786,545 Q7* probably null Het
Olfr659 T C 7: 104,671,681 probably benign Het
Olfr843 A G 9: 19,248,664 L245P probably damaging Het
Osmr A T 15: 6,837,729 L362* probably null Het
Pdlim2 T C 14: 70,174,457 D42G probably damaging Het
Plcb4 T A 2: 136,000,180 I89N possibly damaging Het
Prrc2b T A 2: 32,214,035 M1175K probably benign Het
Pzp T A 6: 128,486,170 N1423I probably benign Het
Retnla G A 16: 48,844,198 C105Y probably damaging Het
Samd8 T A 14: 21,775,476 S167T possibly damaging Het
Scg2 A G 1: 79,436,493 M171T possibly damaging Het
Slc30a5 A G 13: 100,803,433 V658A probably damaging Het
Slc41a2 T C 10: 83,316,591 R7G possibly damaging Het
Slc44a2 A G 9: 21,347,042 T500A probably damaging Het
Slc44a4 G T 17: 34,923,810 G396V possibly damaging Het
Smarca5 A G 8: 80,719,570 probably benign Het
St8sia6 T A 2: 13,793,345 R34W probably damaging Het
Stk-ps2 T A 1: 46,030,177 noncoding transcript Het
Stn1 T C 19: 47,513,890 Y235C probably damaging Het
Tbx15 A G 3: 99,352,484 Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 probably null Het
Thsd7b G T 1: 129,595,771 V181L probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Trpm4 T G 7: 45,326,998 R51S probably damaging Het
Vmn1r91 A T 7: 20,101,746 T197S probably damaging Het
Xrn1 A G 9: 95,977,827 D424G probably benign Het
Yap1 A G 9: 7,962,281 probably null Het
Zer1 T C 2: 30,113,393 D4G probably damaging Het
Zfp462 A T 4: 55,010,292 I753F possibly damaging Het
Other mutations in BC034090
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:BC034090 APN 1 155225447 missense possibly damaging 0.95
IGL00159:BC034090 APN 1 155225451 nonsense probably null
IGL00481:BC034090 APN 1 155232521 missense probably benign 0.04
IGL01309:BC034090 APN 1 155226384 missense probably damaging 0.98
IGL01813:BC034090 APN 1 155226339 nonsense probably null
IGL01938:BC034090 APN 1 155232592 splice site probably null
IGL01982:BC034090 APN 1 155223332 missense probably damaging 1.00
IGL02115:BC034090 APN 1 155232651 intron probably benign
IGL02406:BC034090 APN 1 155225153 missense probably benign 0.00
IGL03243:BC034090 APN 1 155225655 missense possibly damaging 0.71
IGL03290:BC034090 APN 1 155226110 missense probably damaging 1.00
R0055:BC034090 UTSW 1 155241658 missense probably damaging 1.00
R1436:BC034090 UTSW 1 155225916 missense probably benign 0.04
R1649:BC034090 UTSW 1 155225573 missense possibly damaging 0.72
R1710:BC034090 UTSW 1 155225864 missense possibly damaging 0.82
R1819:BC034090 UTSW 1 155225829 missense possibly damaging 0.58
R1969:BC034090 UTSW 1 155225226 missense possibly damaging 0.90
R1996:BC034090 UTSW 1 155221594 unclassified probably benign
R2012:BC034090 UTSW 1 155221432 missense probably damaging 0.98
R2133:BC034090 UTSW 1 155225786 missense probably benign 0.27
R3426:BC034090 UTSW 1 155241498 missense probably benign 0.00
R3427:BC034090 UTSW 1 155241498 missense probably benign 0.00
R3428:BC034090 UTSW 1 155241498 missense probably benign 0.00
R3782:BC034090 UTSW 1 155226278 missense probably damaging 1.00
R3792:BC034090 UTSW 1 155241797 missense probably damaging 0.98
R4234:BC034090 UTSW 1 155241580 missense probably benign
R4373:BC034090 UTSW 1 155226158 missense probably benign 0.22
R4377:BC034090 UTSW 1 155232450 missense probably benign 0.00
R4661:BC034090 UTSW 1 155232475 missense probably damaging 0.98
R4676:BC034090 UTSW 1 155226264 missense possibly damaging 0.60
R4729:BC034090 UTSW 1 155225090 missense probably damaging 1.00
R5170:BC034090 UTSW 1 155213650 missense probably damaging 1.00
R5340:BC034090 UTSW 1 155226414 missense possibly damaging 0.74
R5382:BC034090 UTSW 1 155225603 missense probably benign 0.09
R5384:BC034090 UTSW 1 155242027 missense possibly damaging 0.68
R5576:BC034090 UTSW 1 155241468 missense probably benign 0.01
R5891:BC034090 UTSW 1 155233047 unclassified probably benign
R6060:BC034090 UTSW 1 155241499 missense probably benign 0.00
R6092:BC034090 UTSW 1 155224913 missense probably damaging 0.99
R6662:BC034090 UTSW 1 155226339 missense possibly damaging 0.92
R6736:BC034090 UTSW 1 155241930 missense possibly damaging 0.92
R6903:BC034090 UTSW 1 155221385 missense probably benign 0.03
R6970:BC034090 UTSW 1 155241439 missense probably damaging 1.00
R7144:BC034090 UTSW 1 155242031 missense probably damaging 1.00
R7201:BC034090 UTSW 1 155241934 missense probably damaging 0.98
R7265:BC034090 UTSW 1 155225327 missense probably damaging 0.96
R7380:BC034090 UTSW 1 155232483 missense probably damaging 1.00
R7436:BC034090 UTSW 1 155226381 missense probably damaging 1.00
R7569:BC034090 UTSW 1 155217405 missense probably benign 0.00
R7587:BC034090 UTSW 1 155217486 missense probably damaging 1.00
R7664:BC034090 UTSW 1 155241631 missense probably damaging 1.00
R7737:BC034090 UTSW 1 155241673 missense possibly damaging 0.66
R7782:BC034090 UTSW 1 155232664 intron probably benign
X0002:BC034090 UTSW 1 155226279 nonsense probably null
Posted On2015-04-16