Incidental Mutation 'R1171:BC005561'
ID99390
Institutional Source Beutler Lab
Gene Symbol BC005561
Ensembl Gene ENSMUSG00000079065
Gene NamecDNA sequence BC005561
Synonyms
MMRRC Submission 039244-MU
Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene? Probably essential (E-score: 0.922) question?
Stock #R1171 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location104508352-104522611 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104520903 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 1097 (V1097A)
Ref Sequence ENSEMBL: ENSMUSP00000130629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096452]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096452
AA Change: V1097A

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: V1097A

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
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik T C 19: 11,112,377 Y48C probably damaging Het
Acsm5 A T 7: 119,540,852 E492V probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atr T C 9: 95,907,323 F1511L probably damaging Het
Bdkrb2 G T 12: 105,592,157 R219L probably benign Het
Bhmt2 A T 13: 93,662,329 M328K probably benign Het
Btbd3 A G 2: 138,283,961 D286G probably benign Het
Bub1b T G 2: 118,606,686 L122V probably benign Het
Caml T C 13: 55,625,007 S155P probably damaging Het
Cfap43 T C 19: 47,835,711 K74E probably benign Het
Chst4 A G 8: 110,030,623 S120P probably damaging Het
Col11a1 A G 3: 114,066,564 D213G unknown Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,348,082 probably null Het
Cxcl10 CAC CACTAAC 5: 92,348,086 probably null Het
Cyp26b1 A T 6: 84,576,671 I167N possibly damaging Het
Dchs1 A G 7: 105,757,714 S2195P probably benign Het
Ddx25 T A 9: 35,546,846 K326* probably null Het
Dip2c A T 13: 9,493,126 Y36F possibly damaging Het
Dock2 T C 11: 34,695,241 D538G probably damaging Het
E4f1 C T 17: 24,451,549 D55N probably damaging Het
Emp1 G T 6: 135,381,079 W141L probably damaging Het
Faim2 T A 15: 99,500,254 H271L probably benign Het
Fbxw9 T C 8: 85,066,078 M352T possibly damaging Het
Fcrls A T 3: 87,256,860 F321I probably benign Het
Frzb C T 2: 80,438,490 probably null Het
Gal3st1 G T 11: 3,998,931 K379N probably damaging Het
Gm5519 G A 19: 33,822,972 C22Y possibly damaging Het
Gpn3 T C 5: 122,378,520 F71L probably benign Het
H2-M9 A G 17: 36,641,653 V167A probably benign Het
Hars A G 18: 36,771,414 F182L possibly damaging Het
Hid1 T C 11: 115,352,717 T502A probably benign Het
Hipk3 G T 2: 104,471,676 T57K probably benign Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itpk1 G A 12: 102,606,119 L112F probably damaging Het
Klk9 T A 7: 43,794,393 D110E possibly damaging Het
Lemd3 A T 10: 120,949,341 M535K possibly damaging Het
Lipg A T 18: 74,945,823 S453T possibly damaging Het
Lrrc75a A T 11: 62,609,243 W150R probably damaging Het
Lyg1 T C 1: 37,947,224 E143G probably damaging Het
Map3k1 A G 13: 111,755,643 V1026A probably benign Het
Mgat3 T A 15: 80,211,637 F222I probably benign Het
Mindy4 A T 6: 55,255,616 N348I possibly damaging Het
Myo1b A C 1: 51,778,525 F532C probably damaging Het
Naif1 T A 2: 32,452,546 N36K probably damaging Het
Nkpd1 C A 7: 19,524,087 A597E possibly damaging Het
Npr2 A G 4: 43,647,260 D772G possibly damaging Het
Olfr2 T C 7: 107,001,584 N92S probably benign Het
Olfr658 T G 7: 104,644,997 D123A probably damaging Het
Pcolce2 A T 9: 95,694,740 M355L probably benign Het
Pdgfra A T 5: 75,173,447 I394F probably damaging Het
Pdzrn3 G A 6: 101,150,877 R943C probably damaging Het
Pml A G 9: 58,234,538 V337A probably damaging Het
Pnpla2 T A 7: 141,458,881 M321K probably benign Het
Poln A T 5: 34,103,940 N546K probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prss28 T A 17: 25,310,055 F123L possibly damaging Het
Psg18 A G 7: 18,346,079 V399A probably benign Het
Rab5a T C 17: 53,506,415 C212R probably damaging Het
Ranbp6 A T 19: 29,812,279 D224E probably benign Het
Recql4 T C 15: 76,704,039 I1104M possibly damaging Het
Rev1 A T 1: 38,088,500 N226K possibly damaging Het
Rhbdl3 T A 11: 80,353,592 V375E possibly damaging Het
Senp6 T A 9: 80,116,725 N423K possibly damaging Het
Sertad2 C G 11: 20,648,091 L96V probably benign Het
Slc33a1 T A 3: 63,953,894 T296S probably benign Het
Smurf2 G A 11: 106,852,618 P188S possibly damaging Het
Spta1 T A 1: 174,211,614 Y1174* probably null Het
Stra6l A T 4: 45,864,982 T103S probably benign Het
Swt1 C T 1: 151,405,521 A352T probably damaging Het
Tdgf1 C A 9: 110,943,167 V54L probably benign Het
Tigd2 T A 6: 59,211,376 N409K possibly damaging Het
Tlr6 G T 5: 64,955,250 H105N probably benign Het
Tmprss9 A C 10: 80,879,858 T15P possibly damaging Het
Tnik C T 3: 28,532,940 T120M probably damaging Het
Tnr T A 1: 159,858,210 I337N probably damaging Het
Top3a A G 11: 60,750,593 Y422H probably benign Het
Trim67 A G 8: 124,829,081 N768S probably damaging Het
Ttn A G 2: 76,705,966 V35016A probably benign Het
Utrn A C 10: 12,481,308 S312R probably damaging Het
Vdac2 A G 14: 21,837,811 Y62C probably damaging Het
Vwa5b2 A G 16: 20,604,984 T1216A probably benign Het
Wfdc16 T C 2: 164,638,483 K31E possibly damaging Het
Wtip C T 7: 34,125,496 C221Y probably damaging Het
Xrn1 A G 9: 95,991,011 D640G possibly damaging Het
Zdhhc5 T C 2: 84,692,341 R293G probably benign Het
Zfp536 T C 7: 37,569,634 D119G probably damaging Het
Zfp81 T C 17: 33,335,280 T187A probably benign Het
Zfp810 C T 9: 22,278,826 G262D possibly damaging Het
Zfp963 A C 8: 69,743,019 I203M possibly damaging Het
Zfpm2 T C 15: 41,101,679 M520T probably damaging Het
Zswim8 G A 14: 20,713,113 R360Q possibly damaging Het
Zwilch T A 9: 64,158,717 H254L possibly damaging Het
Other mutations in BC005561
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:BC005561 APN 5 104520500 missense probably damaging 1.00
IGL01024:BC005561 APN 5 104521746 missense probably benign 0.02
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
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
Predicted Primers
Posted On2014-01-15