Mutagenetix > Incidental Mutation

Incidental Mutation 'R0021:Uqcc4'

64770

Institutional Source

Beutler Lab

Gene Symbol

Uqcc4

Ensembl Gene

ENSMUSG00000067722

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 4

Synonyms

BC003965

MMRRC Submission

038316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0021 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

25403535-25406636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25403957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 99 (E99G)

Ref Sequence

ENSEMBL: ENSMUSP00000137122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039734] [ENSMUST00000088307] [ENSMUST00000160785] [ENSMUST00000160896]

AlphaFold

Q6RUT7

Predicted Effect

probably benign
Transcript: ENSMUST00000039734

SMART Domains

Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
low complexity region	61	69	N/A	INTRINSIC
ZnF_C3H1	76	103	1.33e-1	SMART
Blast:ZnF_C3H1	115	144	7e-13	BLAST
ZnF_C3H1	207	232	2.49e1	SMART
ZnF_C3H1	243	276	9.28e-1	SMART
ZnF_C3H1	285	312	8.47e-4	SMART
low complexity region	371	412	N/A	INTRINSIC
low complexity region	463	495	N/A	INTRINSIC
low complexity region	499	505	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC
coiled coil region	561	642	N/A	INTRINSIC
RING	686	720	4.13e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088307
AA Change: E99G

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137122
Gene: ENSMUSG00000067722
AA Change: E99G

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Pfam:CCSMST1	49	121	6.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160785

SMART Domains

Protein: ENSMUSP00000124121
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
low complexity region	36	44	N/A	INTRINSIC
Blast:ZnF_C3H1	51	78	3e-12	BLAST
Blast:ZnF_C3H1	90	119	2e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160896

SMART Domains

Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
ZnF_C3H1	21	46	2.49e1	SMART
ZnF_C3H1	57	90	9.28e-1	SMART
ZnF_C3H1	99	126	8.47e-4	SMART
low complexity region	185	226	N/A	INTRINSIC
low complexity region	277	309	N/A	INTRINSIC
low complexity region	313	319	N/A	INTRINSIC
low complexity region	325	341	N/A	INTRINSIC
coiled coil region	375	456	N/A	INTRINSIC
RING	500	534	4.13e-2	SMART

Meta Mutation Damage Score

0.2104

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,326,620 (GRCm39)		noncoding transcript	Het
Abcc5	T	A	16: 20,197,411 (GRCm39)	K647*	probably null	Het
Aplp1	A	G	7: 30,135,241 (GRCm39)		probably benign	Het
Arhgef25	A	G	10: 127,025,423 (GRCm39)	I43T	probably benign	Het
Brinp3	T	G	1: 146,777,189 (GRCm39)	S545R	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
C5ar2	A	G	7: 15,971,601 (GRCm39)	F109L	probably benign	Het
D630045J12Rik	G	A	6: 38,160,902 (GRCm39)	Q1081*	probably null	Het
Dhx36	T	C	3: 62,385,016 (GRCm39)	I699V	possibly damaging	Het
Dnah9	A	G	11: 65,860,805 (GRCm39)	I2855T	probably benign	Het
Dock8	T	C	19: 25,140,411 (GRCm39)	I1317T	probably benign	Het
Galnt11	A	T	5: 25,453,855 (GRCm39)	D27V	probably damaging	Het
Gm5134	T	A	10: 75,829,718 (GRCm39)	C335S	probably damaging	Het
Hdhd2	A	T	18: 77,058,311 (GRCm39)	K227N	probably damaging	Het
Impg1	A	T	9: 80,317,479 (GRCm39)	L36Q	probably damaging	Het
Krtcap3	A	G	5: 31,410,303 (GRCm39)	H227R	probably benign	Het
Lrrc7	A	G	3: 157,866,298 (GRCm39)	Y1148H	probably damaging	Het
Map2k4	A	G	11: 65,603,110 (GRCm39)	I174T	probably damaging	Het
Mef2c	C	A	13: 83,804,359 (GRCm39)	L282M	probably damaging	Het
Nkapd1	A	C	9: 50,521,725 (GRCm39)	D65E	probably damaging	Het
Nqo2	T	C	13: 34,165,490 (GRCm39)	I129T	probably benign	Het
Pdgfrb	T	A	18: 61,197,998 (GRCm39)		probably benign	Het
Phf7	C	T	14: 30,960,443 (GRCm39)		probably benign	Het
Plac8	T	A	5: 100,704,434 (GRCm39)	T88S	probably benign	Het
Pou2f1	G	A	1: 165,703,587 (GRCm39)	T654M	probably damaging	Het
Ptprk	T	A	10: 28,468,891 (GRCm39)	V1425E	probably damaging	Het
Saal1	A	T	7: 46,342,316 (GRCm39)	S376T	probably damaging	Het
Scart2	G	A	7: 139,876,310 (GRCm39)	R594H	probably benign	Het
Serpini1	T	C	3: 75,526,620 (GRCm39)	Y291H	probably damaging	Het
Siah2	T	C	3: 58,583,713 (GRCm39)	H191R	probably benign	Het
Spaca6	T	A	17: 18,058,498 (GRCm39)	Y39*	probably null	Het
Tbc1d10a	T	C	11: 4,163,680 (GRCm39)	C277R	probably damaging	Het
Trim45	A	T	3: 100,832,736 (GRCm39)	D323V	probably damaging	Het
Trim55	A	C	3: 19,698,866 (GRCm39)	M32L	probably benign	Het
Unc5b	T	C	10: 60,614,698 (GRCm39)	T200A	probably benign	Het
V1rd19	A	T	7: 23,703,029 (GRCm39)	D165V	probably damaging	Het

Other mutations in Uqcc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1122:Uqcc4	UTSW	17	25,403,846 (GRCm39)	missense	probably benign	0.01
R2214:Uqcc4	UTSW	17	25,403,699 (GRCm39)	missense	probably benign	0.03
R5618:Uqcc4	UTSW	17	25,403,963 (GRCm39)	missense	probably damaging	0.98
R5619:Uqcc4	UTSW	17	25,403,963 (GRCm39)	missense	probably damaging	0.98
R5667:Uqcc4	UTSW	17	25,403,963 (GRCm39)	missense	probably damaging	0.98
R5668:Uqcc4	UTSW	17	25,403,963 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCCGATCCAATTTTCCGGCAG -3'
(R):5'- TGCAGGTAACACCTCCACCAGATG -3'

Sequencing Primer
(F):5'- ATTTTCCGGCAGCAAAGC -3'
(R):5'- CTATGGACGTAATCACTGGGC -3'

Posted On

2013-08-06