Incidental Mutation 'IGL01024:BC005561'
ID53599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC005561
Ensembl Gene ENSMUSG00000079065
Gene NamecDNA sequence BC005561
Synonyms
Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene? Probably essential (E-score: 0.938) question?
Stock #IGL01024
Quality Score
Status
Chromosome5
Chromosomal Location104508352-104522611 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 104521746 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 1378 (V1378G)
Ref Sequence ENSEMBL: ENSMUSP00000130629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096452]
Predicted Effect probably benign
Transcript: ENSMUST00000096452
AA Change: V1378G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: V1378G

DomainStartEndE-ValueType
Pfam:THOC2_N 10 424 3.5e-65 PFAM
Pfam:THOC2_N 415 566 5.8e-32 PFAM
Pfam:Thoc2 568 643 8.3e-40 PFAM
low complexity region 729 747 N/A INTRINSIC
Pfam:Tho2 873 1173 1.1e-105 PFAM
low complexity region 1251 1262 N/A INTRINSIC
low complexity region 1266 1283 N/A INTRINSIC
coiled coil region 1310 1335 N/A INTRINSIC
low complexity region 1355 1366 N/A INTRINSIC
low complexity region 1459 1482 N/A INTRINSIC
low complexity region 1524 1543 N/A INTRINSIC
low complexity region 1561 1569 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200034
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,717,040 V209A probably benign Het
Abca6 T A 11: 110,197,142 Y1053F probably benign Het
Acot12 C T 13: 91,781,211 Q386* probably null Het
Adamts16 A G 13: 70,795,484 V336A probably benign Het
Ankrd49 A G 9: 14,782,803 F23L probably damaging Het
Aspm A T 1: 139,478,124 H1583L possibly damaging Het
Atp6v0a1 A G 11: 101,048,439 I677V probably benign Het
Brinp1 A T 4: 68,762,494 W600R probably damaging Het
C87977 A T 4: 144,208,475 I232K possibly damaging Het
Ccdc185 T C 1: 182,747,423 E567G possibly damaging Het
Clip2 T C 5: 134,510,212 D445G probably damaging Het
Elp5 T C 11: 69,968,422 probably benign Het
Gm9376 A G 14: 118,267,158 M1V probably null Het
Gtf2a1l A G 17: 88,671,291 K40R probably damaging Het
Hdc A G 2: 126,603,846 V246A probably benign Het
Hectd2 T A 19: 36,606,393 F479L probably damaging Het
Hipk1 G T 3: 103,760,636 N538K probably benign Het
Kif27 T A 13: 58,288,201 E1259D possibly damaging Het
Klhdc2 T A 12: 69,305,836 N256K probably benign Het
Krt71 C T 15: 101,736,674 A401T probably damaging Het
Mapk3 A T 7: 126,764,774 K312* probably null Het
Med12l G T 3: 59,073,341 S365I probably damaging Het
Mgam A G 6: 40,643,010 K11R probably benign Het
Nox3 A T 17: 3,683,015 I187N probably damaging Het
Nudcd1 T A 15: 44,420,826 M55L probably benign Het
Olfr1312 A T 2: 112,042,371 F220L probably benign Het
Olfr43 A T 11: 74,206,655 L187Q probably damaging Het
Olfr983 A G 9: 40,092,733 S78P probably damaging Het
Pard6g T C 18: 80,079,822 probably benign Het
Pbrm1 G A 14: 31,052,260 R461H probably damaging Het
Ppm1f C A 16: 16,923,769 T369K probably benign Het
Ppp1r16b C T 2: 158,740,816 probably benign Het
Prom2 T C 2: 127,541,139 N61S probably benign Het
Psmc2 T C 5: 21,801,198 probably benign Het
Psme2 A G 14: 55,588,436 probably benign Het
Ptprc T C 1: 138,080,912 H655R probably damaging Het
Pxdn A C 12: 29,987,099 N292T probably damaging Het
Rapgef2 T C 3: 79,070,138 I1301V probably benign Het
Rnase11 T C 14: 51,049,864 I78V probably benign Het
Rpl41 A G 10: 128,548,377 probably benign Het
Sgf29 G A 7: 126,664,931 R56Q possibly damaging Het
Sis A G 3: 72,911,876 L1449S probably damaging Het
Slc34a2 T A 5: 53,067,630 V371D possibly damaging Het
Son C A 16: 91,655,910 T515K probably damaging Het
Tbx15 A T 3: 99,316,246 D250V probably damaging Het
Tmem171 T A 13: 98,686,518 probably null Het
Ugt2b36 C T 5: 87,080,869 probably null Het
Vill G A 9: 119,070,350 probably null Het
Vmn2r22 A G 6: 123,638,053 F193L probably damaging Het
Vmn2r95 C T 17: 18,452,328 probably benign Het
Vstm2a T A 11: 16,281,874 V223D possibly damaging Het
Other mutations in BC005561
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:BC005561 APN 5 104520500 missense probably damaging 1.00
IGL01133:BC005561 APN 5 104517662 missense probably benign
IGL01564:BC005561 APN 5 104520663 missense probably benign 0.12
IGL01727:BC005561 APN 5 104519513 missense probably benign 0.01
IGL02086:BC005561 APN 5 104519001 missense possibly damaging 0.49
IGL02153:BC005561 APN 5 104521083 missense probably benign 0.02
IGL02256:BC005561 APN 5 104520283 nonsense probably null
IGL02436:BC005561 APN 5 104521155 missense probably benign 0.10
IGL02969:BC005561 APN 5 104519343 missense probably benign 0.01
IGL03275:BC005561 APN 5 104518277 missense probably benign 0.00
IGL03357:BC005561 APN 5 104520468 missense probably damaging 1.00
F2404:BC005561 UTSW 5 104520230 missense possibly damaging 0.83
R0318:BC005561 UTSW 5 104517753 missense probably benign 0.00
R0349:BC005561 UTSW 5 104519976 missense possibly damaging 0.85
R0454:BC005561 UTSW 5 104518211 missense probably benign 0.45
R0742:BC005561 UTSW 5 104522154 missense probably benign 0.00
R0842:BC005561 UTSW 5 104519200 missense possibly damaging 0.81
R0882:BC005561 UTSW 5 104519009 missense probably benign 0.05
R1123:BC005561 UTSW 5 104518470 missense probably damaging 1.00
R1171:BC005561 UTSW 5 104520903 missense possibly damaging 0.49
R1205:BC005561 UTSW 5 104520213 missense probably benign 0.28
R1261:BC005561 UTSW 5 104520635 missense probably damaging 0.98
R1432:BC005561 UTSW 5 104518104 missense probably damaging 1.00
R1447:BC005561 UTSW 5 104522204 missense possibly damaging 0.89
R1466:BC005561 UTSW 5 104518257 missense probably damaging 0.99
R1466:BC005561 UTSW 5 104518257 missense probably damaging 0.99
R1584:BC005561 UTSW 5 104518257 missense probably damaging 0.99
R1636:BC005561 UTSW 5 104520750 missense probably damaging 0.99
R1686:BC005561 UTSW 5 104519923 nonsense probably null
R1698:BC005561 UTSW 5 104520510 missense probably benign 0.09
R1816:BC005561 UTSW 5 104517834 missense probably benign 0.16
R1903:BC005561 UTSW 5 104518330 missense probably benign 0.00
R2096:BC005561 UTSW 5 104519969 missense possibly damaging 0.95
R2146:BC005561 UTSW 5 104518991 missense probably benign
R2226:BC005561 UTSW 5 104519420 missense probably damaging 1.00
R2227:BC005561 UTSW 5 104519420 missense probably damaging 1.00
R2383:BC005561 UTSW 5 104518988 missense probably benign 0.23
R2656:BC005561 UTSW 5 104519315 missense probably benign 0.05
R3982:BC005561 UTSW 5 104521023 missense probably benign 0.29
R3983:BC005561 UTSW 5 104521023 missense probably benign 0.29
R4115:BC005561 UTSW 5 104519433 missense probably damaging 1.00
R4345:BC005561 UTSW 5 104521449 missense probably benign 0.21
R4697:BC005561 UTSW 5 104522240 missense probably benign 0.00
R4711:BC005561 UTSW 5 104519661 missense probably damaging 0.98
R4742:BC005561 UTSW 5 104518857 missense probably benign 0.17
R4758:BC005561 UTSW 5 104520399 missense possibly damaging 0.48
R4863:BC005561 UTSW 5 104517750 missense possibly damaging 0.89
R4867:BC005561 UTSW 5 104521002 missense possibly damaging 0.91
R5024:BC005561 UTSW 5 104522258 missense possibly damaging 0.68
R5114:BC005561 UTSW 5 104519876 missense probably damaging 0.99
R5117:BC005561 UTSW 5 104520255 missense probably damaging 1.00
R5289:BC005561 UTSW 5 104519657 missense probably benign 0.03
R5341:BC005561 UTSW 5 104518076 missense probably damaging 1.00
R5420:BC005561 UTSW 5 104518359 missense probably damaging 0.99
R5421:BC005561 UTSW 5 104518395 missense probably benign 0.01
R5422:BC005561 UTSW 5 104519646 missense probably damaging 0.98
R5606:BC005561 UTSW 5 104521878 missense probably benign 0.00
R5939:BC005561 UTSW 5 104519207 missense possibly damaging 0.56
R6104:BC005561 UTSW 5 104518218 missense probably damaging 1.00
R6169:BC005561 UTSW 5 104518396 missense probably benign 0.00
R6316:BC005561 UTSW 5 104519729 missense probably damaging 1.00
R6352:BC005561 UTSW 5 104520198 missense probably benign 0.11
R6408:BC005561 UTSW 5 104518777 missense probably benign 0.19
R6458:BC005561 UTSW 5 104522303 missense probably benign 0.02
R6722:BC005561 UTSW 5 104520279 missense probably damaging 0.99
R6789:BC005561 UTSW 5 104517689 missense probably benign 0.00
R7214:BC005561 UTSW 5 104522363 missense probably benign
R7494:BC005561 UTSW 5 104518418 missense possibly damaging 0.90
R7733:BC005561 UTSW 5 104519960 missense possibly damaging 0.82
Posted On2013-06-28