Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00484:Uqcc5'

332194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uqcc5

Ensembl Gene

ENSMUSG00000058351

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 5

Synonyms

2010107H07Rik, Smim4, Gm41122

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00484

Quality Score

Status

Chromosome

Chromosomal Location

30810081-30850894 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 30810879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022471] [ENSMUST00000022474] [ENSMUST00000052239] [ENSMUST00000064032] [ENSMUST00000090214] [ENSMUST00000112092] [ENSMUST00000112094] [ENSMUST00000203261] [ENSMUST00000112095] [ENSMUST00000112098] [ENSMUST00000123678] [ENSMUST00000136237] [ENSMUST00000156628] [ENSMUST00000135704]

AlphaFold

Q8C1Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000022471

SMART Domains

Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1074	1.33e-45	SMART
low complexity region	1083	1097	N/A	INTRINSIC
BAH	1156	1272	3.02e-35	SMART
low complexity region	1318	1338	N/A	INTRINSIC
HMG	1378	1450	8.91e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022474

SMART Domains

Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	531	642	6.07e-39	SMART
BROMO	666	780	3.01e-43	SMART
BROMO	790	896	2.53e-18	SMART
coiled coil region	922	949	N/A	INTRINSIC
BAH	971	1089	1.33e-45	SMART
low complexity region	1098	1112	N/A	INTRINSIC
BAH	1171	1287	3.02e-35	SMART
low complexity region	1333	1353	N/A	INTRINSIC
HMG	1393	1465	8.91e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052239

SMART Domains

Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1049	8.64e-22	SMART
low complexity region	1058	1072	N/A	INTRINSIC
BAH	1131	1247	3.02e-35	SMART
low complexity region	1293	1310	N/A	INTRINSIC
HMG	1326	1396	2.87e-13	SMART
low complexity region	1405	1430	N/A	INTRINSIC
low complexity region	1449	1477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064032

SMART Domains

Protein: ENSMUSP00000067418
Gene: ENSMUSG00000058351

Domain	Start	End	E-Value	Type
Pfam:UPF0640	2	68	9.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090214

SMART Domains

Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1074	1.33e-45	SMART
low complexity region	1083	1097	N/A	INTRINSIC
BAH	1156	1272	3.02e-35	SMART
low complexity region	1318	1338	N/A	INTRINSIC
HMG	1378	1448	1.62e-21	SMART
low complexity region	1464	1475	N/A	INTRINSIC
low complexity region	1485	1500	N/A	INTRINSIC
low complexity region	1512	1537	N/A	INTRINSIC
low complexity region	1556	1584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112092

SMART Domains

Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	531	642	6.07e-39	SMART
BROMO	666	780	3.01e-43	SMART
BROMO	790	896	2.53e-18	SMART
coiled coil region	922	949	N/A	INTRINSIC
BAH	971	1089	1.33e-45	SMART
low complexity region	1098	1112	N/A	INTRINSIC
BAH	1171	1287	3.02e-35	SMART
low complexity region	1333	1353	N/A	INTRINSIC
HMG	1393	1463	1.62e-21	SMART
low complexity region	1479	1490	N/A	INTRINSIC
low complexity region	1519	1547	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112094

SMART Domains

Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	322	338	N/A	INTRINSIC
BROMO	347	457	1.57e-32	SMART
BROMO	484	595	6.07e-39	SMART
BROMO	619	733	3.01e-43	SMART
BROMO	743	849	2.53e-18	SMART
coiled coil region	875	902	N/A	INTRINSIC
BAH	924	1042	1.33e-45	SMART
low complexity region	1051	1065	N/A	INTRINSIC
BAH	1124	1240	3.02e-35	SMART
low complexity region	1286	1306	N/A	INTRINSIC
HMG	1346	1416	2.87e-13	SMART
low complexity region	1425	1450	N/A	INTRINSIC
low complexity region	1469	1497	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000203261
AA Change: S86C

SMART Domains

Protein: ENSMUSP00000145018
Gene: ENSMUSG00000058351
AA Change: S86C

Domain	Start	End	E-Value	Type
Pfam:UPF0640	2	68	9.1e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156407

Predicted Effect

probably benign
Transcript: ENSMUST00000112095

SMART Domains

Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
coiled coil region	907	934	N/A	INTRINSIC
BAH	956	1074	1.33e-45	SMART
low complexity region	1083	1097	N/A	INTRINSIC
BAH	1156	1272	3.02e-35	SMART
low complexity region	1318	1338	N/A	INTRINSIC
HMG	1378	1448	2.87e-13	SMART
low complexity region	1457	1482	N/A	INTRINSIC
low complexity region	1501	1529	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112098

SMART Domains

Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	531	642	6.07e-39	SMART
BROMO	666	780	3.01e-43	SMART
BROMO	790	896	2.53e-18	SMART
coiled coil region	922	949	N/A	INTRINSIC
BAH	971	1089	1.33e-45	SMART
low complexity region	1098	1112	N/A	INTRINSIC
BAH	1171	1287	3.02e-35	SMART
low complexity region	1333	1353	N/A	INTRINSIC
HMG	1393	1463	1.62e-21	SMART
low complexity region	1479	1490	N/A	INTRINSIC
low complexity region	1500	1515	N/A	INTRINSIC
low complexity region	1527	1552	N/A	INTRINSIC
low complexity region	1571	1599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123678

SMART Domains

Protein: ENSMUSP00000120549
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	856	2.3e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136237

SMART Domains

Protein: ENSMUSP00000119722
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	859	7.08e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156628

SMART Domains

Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	43	153	4.97e-35	SMART
BROMO	175	289	5.84e-41	SMART
low complexity region	354	370	N/A	INTRINSIC
BROMO	379	489	1.57e-32	SMART
BROMO	516	627	6.07e-39	SMART
BROMO	651	765	3.01e-43	SMART
BROMO	775	881	2.53e-18	SMART
low complexity region	903	933	N/A	INTRINSIC
BAH	955	1073	1.33e-45	SMART
low complexity region	1082	1096	N/A	INTRINSIC
BAH	1155	1271	3.02e-35	SMART
low complexity region	1317	1337	N/A	INTRINSIC
HMG	1377	1447	2.87e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135704

SMART Domains

Protein: ENSMUSP00000115505
Gene: ENSMUSG00000042323

Domain	Start	End	E-Value	Type
BROMO	1	97	3.24e-25	SMART
BROMO	119	233	5.84e-41	SMART
low complexity region	298	314	N/A	INTRINSIC
BROMO	323	433	1.57e-32	SMART
BROMO	475	586	6.07e-39	SMART
BROMO	610	724	3.01e-43	SMART
BROMO	734	840	2.53e-18	SMART
low complexity region	862	892	N/A	INTRINSIC
BAH	914	1032	1.33e-45	SMART
low complexity region	1041	1055	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	A	G	7: 139,455,860 (GRCm39)	Q496R	probably benign	Het
Ankrd17	A	T	5: 90,416,220 (GRCm39)	S1151T	probably damaging	Het
Ankrd55	A	G	13: 112,504,328 (GRCm39)	K330R	probably benign	Het
Anln	A	T	9: 22,272,120 (GRCm39)	Y666*	probably null	Het
Atp1a2	A	G	1: 172,103,569 (GRCm39)	W984R	probably damaging	Het
Atp8b3	G	T	10: 80,361,998 (GRCm39)		probably benign	Het
Casc3	A	G	11: 98,714,028 (GRCm39)	E420G	possibly damaging	Het
Cep250	G	A	2: 155,833,249 (GRCm39)	D1724N	probably benign	Het
Dhx15	T	G	5: 52,324,154 (GRCm39)	E379D	probably benign	Het
Dock1	T	A	7: 134,748,260 (GRCm39)		probably benign	Het
Exph5	C	T	9: 53,288,006 (GRCm39)	Q1696*	probably null	Het
Fkbp6	C	A	5: 135,368,802 (GRCm39)	A213S	possibly damaging	Het
Fndc4	A	G	5: 31,450,840 (GRCm39)		probably benign	Het
Gli3	A	T	13: 15,818,977 (GRCm39)	T260S	possibly damaging	Het
Glmp	T	A	3: 88,233,169 (GRCm39)		probably null	Het
H2ac22	G	T	13: 21,971,091 (GRCm39)	R100S	probably benign	Het
Hapstr1	T	C	16: 8,649,175 (GRCm39)		probably benign	Het
Ighv1-19	G	A	12: 114,672,329 (GRCm39)	T97I	probably benign	Het
Kdm6b	T	C	11: 69,297,132 (GRCm39)	S407G	possibly damaging	Het
Lrp1b	T	C	2: 41,000,873 (GRCm39)	Y2231C	probably damaging	Het
Lyst	T	A	13: 13,884,188 (GRCm39)	S2999T	probably benign	Het
Lztr1	T	C	16: 17,335,314 (GRCm39)		probably benign	Het
N4bp2	T	C	5: 65,964,867 (GRCm39)	V972A	probably damaging	Het
Ncoa6	A	T	2: 155,248,128 (GRCm39)	S1725R	probably damaging	Het
Nfkbiz	A	G	16: 55,638,272 (GRCm39)	V396A	probably benign	Het
Nup205	A	G	6: 35,191,737 (GRCm39)	Q1074R	probably damaging	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Peli1	T	A	11: 21,096,952 (GRCm39)	V114E	probably damaging	Het
Phf20l1	T	G	15: 66,487,482 (GRCm39)		probably benign	Het
Pik3r1	A	C	13: 101,838,255 (GRCm39)	I267S	probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppl	A	G	16: 4,905,816 (GRCm39)	I1493T	probably benign	Het
Pramel19	T	C	4: 101,798,898 (GRCm39)	F290L	probably benign	Het
Pramel28	G	A	4: 143,693,184 (GRCm39)		probably benign	Het
Prg3	A	G	2: 84,819,091 (GRCm39)	I6V	probably benign	Het
Ptprg	T	C	14: 12,215,220 (GRCm38)	V1069A	probably damaging	Het
Rasal2	A	T	1: 157,001,745 (GRCm39)		probably null	Het
Slc36a2	A	T	11: 55,053,614 (GRCm39)	Y341*	probably null	Het
Snapc3	A	G	4: 83,354,633 (GRCm39)	I215V	probably damaging	Het
Srrm2	T	A	17: 24,037,492 (GRCm39)	S1475T	probably benign	Het
Sycp2	A	T	2: 178,024,141 (GRCm39)	D414E	probably damaging	Het
Tanc1	A	G	2: 59,623,520 (GRCm39)	T468A	probably benign	Het
Tfap2d	A	G	1: 19,213,105 (GRCm39)	T310A	probably benign	Het
Tgfbr2	T	A	9: 115,987,357 (GRCm39)	I51F	probably benign	Het
Trip11	A	T	12: 101,851,570 (GRCm39)	C546*	probably null	Het
Ttbk2	C	T	2: 120,604,367 (GRCm39)	W210*	probably null	Het
Upk1b	T	G	16: 38,600,378 (GRCm39)	N201H	possibly damaging	Het
Ush2a	A	T	1: 188,514,710 (GRCm39)	T3180S	probably benign	Het
Vps13d	T	G	4: 144,853,145 (GRCm39)	Q2323P	probably benign	Het
Zfp810	A	T	9: 22,189,605 (GRCm39)	Y434*	probably null	Het

Other mutations in Uqcc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0751:Uqcc5	UTSW	14	30,810,953 (GRCm39)	intron	probably benign
R5737:Uqcc5	UTSW	14	30,850,676 (GRCm39)	missense	probably benign	0.02
R5814:Uqcc5	UTSW	14	30,846,477 (GRCm39)	critical splice donor site	probably null
R7273:Uqcc5	UTSW	14	30,846,555 (GRCm39)	missense	probably damaging	1.00
R7358:Uqcc5	UTSW	14	30,846,560 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-08-05