Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Bcs1l'

532344

Institutional Source

Beutler Lab

Gene Symbol

Bcs1l

Ensembl Gene

ENSMUSG00000026172

Gene Name

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Synonyms

9130022O19Rik

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74627448-74631602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74629844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 224 (R224C)

Ref Sequence

ENSEMBL: ENSMUSP00000109362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027315] [ENSMUST00000027357] [ENSMUST00000027358] [ENSMUST00000066986] [ENSMUST00000113721] [ENSMUST00000113732] [ENSMUST00000113733] [ENSMUST00000113737] [ENSMUST00000127938] [ENSMUST00000135140] [ENSMUST00000156613]

AlphaFold

Q9CZP5

Predicted Effect

probably benign
Transcript: ENSMUST00000027315

SMART Domains

Protein: ENSMUSP00000027315
Gene: ENSMUSG00000026135

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
RWD	18	127	4.66e-31	SMART
RING	134	198	2.87e-5	SMART
low complexity region	368	378	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000027358
AA Change: R224C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027358
Gene: ENSMUSG00000026172
AA Change: R224C

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
RWD	18	127	4.66e-31	SMART
RING	134	197	3.53e-5	SMART
low complexity region	367	377	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113732
AA Change: R224C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109361
Gene: ENSMUSG00000026172
AA Change: R224C

Domain	Start	End	E-Value	Type
BCS1_N	23	191	1.29e-86	SMART
AAA	222	357	3.23e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113733
AA Change: R224C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109362
Gene: ENSMUSG00000026172
AA Change: R224C

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
RING	23	87	2.87e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135140

Predicted Effect

probably benign
Transcript: ENSMUST00000156613

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	probably damaging	Het

Other mutations in Bcs1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Bcs1l	APN	1	74,631,174 (GRCm39)	missense	possibly damaging	0.63
IGL02394:Bcs1l	APN	1	74,629,459 (GRCm39)	missense	probably damaging	0.98
IGL02751:Bcs1l	APN	1	74,628,775 (GRCm39)	missense	probably damaging	1.00
IGL02797:Bcs1l	APN	1	74,629,620 (GRCm39)	critical splice donor site	probably null
R3707:Bcs1l	UTSW	1	74,629,264 (GRCm39)	unclassified	probably benign
R3708:Bcs1l	UTSW	1	74,629,264 (GRCm39)	unclassified	probably benign
R4821:Bcs1l	UTSW	1	74,631,144 (GRCm39)	missense	probably benign	0.00
R9573:Bcs1l	UTSW	1	74,629,492 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTAGCCAGGTGAAGTTACAGG -3'
(R):5'- AAGGCCTGTTTCCTATACCAC -3'

Sequencing Primer
(F):5'- GTTACAGGAAATTCTAGCTCAGGTG -3'
(R):5'- GCCTGTTTCCTATACCACTCACTTG -3'

Posted On

2018-08-29