Incidental Mutation 'IGL01152:Bcs1l'
ID50363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcs1l
Ensembl Gene ENSMUSG00000026172
Gene NameBCS1-like (yeast)
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01152
Quality Score
Status
Chromosome1
Chromosomal Location74588289-74592443 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74592015 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 401 (M401V)
Ref Sequence ENSEMBL: ENSMUSP00000109362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027315] [ENSMUST00000027357] [ENSMUST00000027358] [ENSMUST00000066986] [ENSMUST00000113721] [ENSMUST00000113732] [ENSMUST00000113733] [ENSMUST00000113737] [ENSMUST00000127938] [ENSMUST00000135140] [ENSMUST00000154874] [ENSMUST00000156613]
Predicted Effect probably benign
Transcript: ENSMUST00000027315
SMART Domains Protein: ENSMUSP00000027315
Gene: ENSMUSG00000026135

DomainStartEndE-ValueType
ZnF_C2H2 103 127 1.16e1 SMART
ZnF_C2H2 164 186 1.26e-2 SMART
ZnF_C2H2 193 218 7.78e-3 SMART
ZnF_C2H2 223 247 2.29e0 SMART
ZnF_C2H2 250 272 9.96e-1 SMART
low complexity region 317 329 N/A INTRINSIC
ZnF_C2H2 363 385 9.96e-1 SMART
ZnF_C2H2 391 411 1.26e1 SMART
ZnF_C2H2 419 442 1.47e-3 SMART
ZnF_C2H2 453 475 2.75e-3 SMART
ZnF_C2H2 486 511 3.34e-2 SMART
ZnF_C2H2 516 540 4.81e0 SMART
ZnF_C2H2 543 566 7.05e-1 SMART
ZnF_C2H2 572 595 2.17e-1 SMART
ZnF_C2H2 601 623 1.56e-2 SMART
ZnF_C2H2 629 651 8.94e-3 SMART
ZnF_C2H2 657 679 1.38e-3 SMART
ZnF_C2H2 685 707 9.44e-2 SMART
ZnF_C2H2 712 735 1.26e-2 SMART
ZnF_C2H2 744 767 1.31e0 SMART
ZnF_C2H2 773 796 2.63e0 SMART
low complexity region 903 919 N/A INTRINSIC
low complexity region 953 969 N/A INTRINSIC
low complexity region 996 1007 N/A INTRINSIC
ZnF_C2H2 1039 1059 2.01e1 SMART
ZnF_C2H2 1069 1089 1.91e1 SMART
low complexity region 1147 1160 N/A INTRINSIC
ZnF_C2H2 1187 1207 2.7e2 SMART
low complexity region 1209 1222 N/A INTRINSIC
ZnF_C2H2 1265 1285 3.56e1 SMART
ZnF_C2H2 1295 1318 4.98e-1 SMART
ZnF_C2H2 1331 1354 2.49e-1 SMART
ZnF_C2H2 1360 1382 1.03e-2 SMART
ZnF_C2H2 1388 1411 5.72e-1 SMART
ZnF_C2H2 1417 1440 6.75e0 SMART
ZnF_C2H2 1446 1469 9.58e-3 SMART
ZnF_C2H2 1488 1511 1.64e-1 SMART
ZnF_C2H2 1514 1536 1.1e-2 SMART
ZnF_C2H2 1540 1563 4.05e-1 SMART
ZnF_C2H2 1580 1602 4.45e0 SMART
ZnF_C2H2 1608 1630 8.81e-2 SMART
ZnF_C2H2 1636 1658 1.18e-2 SMART
ZnF_C2H2 1664 1686 1.2e-3 SMART
ZnF_C2H2 1692 1715 3.89e-3 SMART
ZnF_C2H2 1721 1743 4.54e-4 SMART
ZnF_C2H2 1749 1771 1.18e-2 SMART
ZnF_C2H2 1777 1799 3.52e-1 SMART
low complexity region 1829 1838 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000027357
SMART Domains Protein: ENSMUSP00000027357
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 18 127 4.66e-31 SMART
RING 134 198 2.87e-5 SMART
low complexity region 368 378 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000027358
AA Change: M401V

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027358
Gene: ENSMUSG00000026172
AA Change: M401V

DomainStartEndE-ValueType
BCS1_N 23 191 1.29e-86 SMART
AAA 222 357 3.23e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066986
SMART Domains Protein: ENSMUSP00000065149
Gene: ENSMUSG00000026135

DomainStartEndE-ValueType
low complexity region 116 128 N/A INTRINSIC
ZnF_C2H2 162 184 9.96e-1 SMART
ZnF_C2H2 190 210 1.26e1 SMART
ZnF_C2H2 218 241 1.47e-3 SMART
ZnF_C2H2 252 274 2.75e-3 SMART
ZnF_C2H2 285 310 3.34e-2 SMART
ZnF_C2H2 315 339 4.81e0 SMART
ZnF_C2H2 342 365 7.05e-1 SMART
ZnF_C2H2 371 394 2.17e-1 SMART
ZnF_C2H2 400 422 1.56e-2 SMART
ZnF_C2H2 428 450 8.94e-3 SMART
ZnF_C2H2 456 478 1.38e-3 SMART
ZnF_C2H2 484 506 9.44e-2 SMART
ZnF_C2H2 511 534 1.26e-2 SMART
ZnF_C2H2 543 566 1.31e0 SMART
ZnF_C2H2 572 595 2.63e0 SMART
low complexity region 702 718 N/A INTRINSIC
low complexity region 752 768 N/A INTRINSIC
low complexity region 795 806 N/A INTRINSIC
ZnF_C2H2 838 858 2.01e1 SMART
ZnF_C2H2 868 888 1.91e1 SMART
low complexity region 946 959 N/A INTRINSIC
ZnF_C2H2 986 1006 2.7e2 SMART
low complexity region 1008 1021 N/A INTRINSIC
ZnF_C2H2 1064 1084 3.56e1 SMART
ZnF_C2H2 1094 1117 4.98e-1 SMART
ZnF_C2H2 1130 1153 2.49e-1 SMART
ZnF_C2H2 1159 1181 1.03e-2 SMART
ZnF_C2H2 1187 1210 5.72e-1 SMART
ZnF_C2H2 1216 1239 6.75e0 SMART
ZnF_C2H2 1245 1268 9.58e-3 SMART
ZnF_C2H2 1287 1310 1.64e-1 SMART
ZnF_C2H2 1313 1335 1.1e-2 SMART
ZnF_C2H2 1339 1362 4.05e-1 SMART
ZnF_C2H2 1379 1401 4.45e0 SMART
ZnF_C2H2 1407 1429 8.81e-2 SMART
ZnF_C2H2 1435 1457 1.18e-2 SMART
ZnF_C2H2 1463 1485 1.2e-3 SMART
ZnF_C2H2 1491 1514 3.89e-3 SMART
ZnF_C2H2 1520 1542 4.54e-4 SMART
ZnF_C2H2 1548 1570 1.18e-2 SMART
ZnF_C2H2 1576 1598 3.52e-1 SMART
low complexity region 1628 1637 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113721
SMART Domains Protein: ENSMUSP00000109350
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 18 127 4.66e-31 SMART
RING 134 197 3.53e-5 SMART
low complexity region 367 377 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113732
AA Change: M401V

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109361
Gene: ENSMUSG00000026172
AA Change: M401V

DomainStartEndE-ValueType
BCS1_N 23 191 1.29e-86 SMART
AAA 222 357 3.23e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113733
AA Change: M401V

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109362
Gene: ENSMUSG00000026172
AA Change: M401V

DomainStartEndE-ValueType
BCS1_N 23 191 1.29e-86 SMART
AAA 222 357 3.23e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113737
SMART Domains Protein: ENSMUSP00000109366
Gene: ENSMUSG00000026135

DomainStartEndE-ValueType
ZnF_C2H2 93 115 9.81e1 SMART
ZnF_C2H2 120 144 2.29e0 SMART
ZnF_C2H2 147 169 9.96e-1 SMART
low complexity region 214 226 N/A INTRINSIC
ZnF_C2H2 260 282 9.96e-1 SMART
ZnF_C2H2 288 308 1.26e1 SMART
ZnF_C2H2 316 339 1.47e-3 SMART
ZnF_C2H2 350 372 2.75e-3 SMART
ZnF_C2H2 383 408 3.34e-2 SMART
ZnF_C2H2 413 437 4.81e0 SMART
ZnF_C2H2 440 463 7.05e-1 SMART
ZnF_C2H2 469 492 2.17e-1 SMART
ZnF_C2H2 498 520 1.56e-2 SMART
ZnF_C2H2 526 548 8.94e-3 SMART
ZnF_C2H2 554 576 1.38e-3 SMART
ZnF_C2H2 582 604 9.44e-2 SMART
ZnF_C2H2 609 632 1.26e-2 SMART
ZnF_C2H2 641 664 1.31e0 SMART
ZnF_C2H2 670 693 2.63e0 SMART
low complexity region 800 816 N/A INTRINSIC
low complexity region 850 866 N/A INTRINSIC
low complexity region 893 904 N/A INTRINSIC
ZnF_C2H2 936 956 2.01e1 SMART
ZnF_C2H2 966 986 1.91e1 SMART
low complexity region 1044 1057 N/A INTRINSIC
ZnF_C2H2 1084 1104 2.7e2 SMART
low complexity region 1106 1119 N/A INTRINSIC
ZnF_C2H2 1162 1182 3.56e1 SMART
ZnF_C2H2 1192 1215 4.98e-1 SMART
ZnF_C2H2 1228 1251 2.49e-1 SMART
ZnF_C2H2 1257 1279 1.03e-2 SMART
ZnF_C2H2 1285 1308 5.72e-1 SMART
ZnF_C2H2 1314 1337 6.75e0 SMART
ZnF_C2H2 1343 1366 9.58e-3 SMART
ZnF_C2H2 1385 1408 1.64e-1 SMART
ZnF_C2H2 1411 1433 1.1e-2 SMART
ZnF_C2H2 1437 1460 4.05e-1 SMART
ZnF_C2H2 1477 1499 4.45e0 SMART
ZnF_C2H2 1505 1527 8.81e-2 SMART
ZnF_C2H2 1533 1555 1.18e-2 SMART
ZnF_C2H2 1561 1583 1.2e-3 SMART
ZnF_C2H2 1589 1612 3.89e-3 SMART
ZnF_C2H2 1618 1640 4.54e-4 SMART
ZnF_C2H2 1646 1668 1.18e-2 SMART
ZnF_C2H2 1674 1696 3.52e-1 SMART
low complexity region 1726 1735 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127938
SMART Domains Protein: ENSMUSP00000116973
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RING 23 87 2.87e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130112
Predicted Effect probably benign
Transcript: ENSMUST00000135140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149649
Predicted Effect probably benign
Transcript: ENSMUST00000154874
SMART Domains Protein: ENSMUSP00000120646
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 1 94 6.36e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156613
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a chaperone protein that is involved in the assembly of complex III (CIII), one of the five protein complexes of the mitochondrial respiratory chain, and is necessary for the insertion of the Rieske iron-sulfur (RISP) and Qcr10p proteins into the precomplex. Studies from the yeast ortholog of this protein indicate that it is targeted to the inner membrane of the mitochondria, despite the absence of an N-terminal targeting sequence. Positively charged amino acids located C-terminal to the transmembrane domain are thought to act as an internal targeting signal (PMID:8599931). Mutations in the human ortholog of this gene have been associated with GRACILE syndrome, characterized by Growth retardation, Amino aciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death. Mouse models with the corresponding mutation mimic the phenotype of GRACILE syndrome and display decreased complex III activity and decreased electron transport capacity (PMID:21274865). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit reduced growth, defects in the liver, kidney and testes, and mitochondrial hepatopathy with premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,435,164 H356L probably benign Het
A730013G03Rik T G 1: 192,833,639 noncoding transcript Het
Abcb4 G A 5: 8,950,678 V1031M probably benign Het
Abcc4 A G 14: 118,599,385 S655P probably damaging Het
Actn1 T C 12: 80,199,046 K121R probably damaging Het
Aldh1l2 T A 10: 83,522,886 R82* probably null Het
Arhgap31 T A 16: 38,602,239 H1155L possibly damaging Het
Atp8a1 G T 5: 67,847,206 P2Q probably damaging Het
Brca2 A T 5: 150,542,390 N1873I probably damaging Het
Cenpj T C 14: 56,552,300 N764S probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clk1 A T 1: 58,413,452 C359S possibly damaging Het
Clk2 T A 3: 89,176,511 F479I probably damaging Het
Cul4b T C X: 38,543,370 M709V probably damaging Het
D130052B06Rik G T 11: 33,623,620 probably null Het
Dgkb T A 12: 38,084,234 N46K probably damaging Het
Dnah9 C T 11: 66,072,056 R1811H probably damaging Het
Dnajc18 T C 18: 35,680,873 N281S probably benign Het
Galnt5 A T 2: 58,025,393 I654L probably benign Het
Gm9989 T G 3: 81,922,211 noncoding transcript Het
Gpr179 T C 11: 97,337,411 E1306G probably benign Het
Gsc C A 12: 104,471,605 K219N probably damaging Het
Gsx2 A T 5: 75,075,791 I11F probably damaging Het
Igdcc4 A C 9: 65,135,164 E121A probably damaging Het
Lama2 C T 10: 27,208,429 R915H probably benign Het
Large2 A G 2: 92,370,639 L64P probably damaging Het
Lztr1 C A 16: 17,522,453 Q136K probably damaging Het
Mageb18 A G X: 92,119,824 W271R possibly damaging Het
Magoh A C 4: 107,885,006 probably benign Het
Mrgprx1 T C 7: 48,021,486 H171R probably benign Het
Muc1 C A 3: 89,230,754 T301K probably benign Het
Nbas C T 12: 13,360,958 L868F probably damaging Het
Nwd2 A G 5: 63,806,529 D1152G possibly damaging Het
Olfr493 C T 7: 108,346,949 A11T probably benign Het
Olfr77 G A 9: 19,920,949 V247M possibly damaging Het
Ovgp1 T A 3: 105,986,172 D420E possibly damaging Het
Pacsin3 A G 2: 91,263,776 D350G probably benign Het
Pcolce2 A T 9: 95,692,923 N309Y probably damaging Het
Pim2 C A X: 7,878,422 probably benign Het
Plcb1 A G 2: 134,813,659 Y53C probably damaging Het
Pogk T C 1: 166,408,478 E18G probably damaging Het
Pxdn T A 12: 30,001,937 D704E probably damaging Het
Rb1 C A 14: 73,205,870 S781I probably damaging Het
Rnpepl1 A G 1: 92,915,899 H247R possibly damaging Het
Scube1 A T 15: 83,613,570 F697I probably damaging Het
Sel1l3 G T 5: 53,116,333 H1064N probably damaging Het
Serinc3 A G 2: 163,636,911 Y99H probably damaging Het
Slc36a2 T A 11: 55,169,847 probably benign Het
Smarcc1 A C 9: 110,139,625 E130A possibly damaging Het
Strc A G 2: 121,370,795 M1273T probably benign Het
Tmem116 A G 5: 121,463,799 I21V probably benign Het
Tmem190 T C 7: 4,784,026 probably benign Het
Trim63 C T 4: 134,325,676 A316V probably benign Het
Ugt2b34 T C 5: 86,901,203 E321G probably damaging Het
Zfat T A 15: 68,110,504 R1053S probably damaging Het
Other mutations in Bcs1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02394:Bcs1l APN 1 74590300 missense probably damaging 0.98
IGL02751:Bcs1l APN 1 74589616 missense probably damaging 1.00
IGL02797:Bcs1l APN 1 74590461 critical splice donor site probably null
R3707:Bcs1l UTSW 1 74590105 unclassified probably benign
R3708:Bcs1l UTSW 1 74590105 unclassified probably benign
R4821:Bcs1l UTSW 1 74591985 missense probably benign 0.00
R6786:Bcs1l UTSW 1 74590685 missense probably damaging 1.00
Posted On2013-06-21