Mutagenetix > Incidental Mutation

Incidental Mutation 'R1122:Uqcc4'

95778

Institutional Source

Beutler Lab

Gene Symbol

Uqcc4

Ensembl Gene

ENSMUSG00000067722

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 4

Synonyms

BC003965

MMRRC Submission

039195-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1122 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

25403535-25406636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25403846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 62 (I62T)

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

probably benign
Transcript: ENSMUST00000088307
AA Change: I62T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000137122
Gene: ENSMUSG00000067722
AA Change: I62T

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	G	A	11: 69,902,203 (GRCm39)	L469F	probably damaging	Het
Adgrb1	C	A	15: 74,419,534 (GRCm39)	R792S	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Arhgap15	A	T	2: 44,032,307 (GRCm39)	H297L	probably benign	Het
Chtf18	T	C	17: 25,943,597 (GRCm39)	E333G	probably damaging	Het
Cyb5a	A	G	18: 84,895,964 (GRCm39)	T77A	possibly damaging	Het
Entrep1	T	C	19: 23,952,756 (GRCm39)	E518G	probably damaging	Het
Exosc10	T	C	4: 148,650,821 (GRCm39)	W456R	possibly damaging	Het
Fhip2a	A	T	19: 57,370,733 (GRCm39)	T551S	probably benign	Het
Gad2	A	T	2: 22,513,463 (GRCm39)	Q31L	possibly damaging	Het
Gm9637	T	A	14: 19,401,879 (GRCm38)		noncoding transcript	Het
Itgav	A	G	2: 83,622,283 (GRCm39)	T622A	probably benign	Het
Kifc5b	T	A	17: 27,143,035 (GRCm39)	V269E	probably benign	Het
Lrrc15	T	C	16: 30,092,719 (GRCm39)	N207D	probably damaging	Het
Map2k5	A	G	9: 63,170,445 (GRCm39)	V291A	probably damaging	Het
Mrc1	G	A	2: 14,266,147 (GRCm39)		probably null	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Or12d12	T	A	17: 37,611,019 (GRCm39)	Q98L	probably damaging	Het
Or1o2	T	A	17: 37,542,934 (GRCm39)	D109V	probably damaging	Het
Pdzd2	A	G	15: 12,457,981 (GRCm39)	V294A	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rnf220	C	T	4: 117,135,277 (GRCm39)	G171S	probably benign	Het
Slc6a4	T	C	11: 76,918,012 (GRCm39)	S585P	possibly damaging	Het
Slc7a8	T	C	14: 54,961,564 (GRCm39)	E528G	probably benign	Het
Slco4c1	A	G	1: 96,756,561 (GRCm39)	I587T	possibly damaging	Het
Syt4	T	A	18: 31,573,255 (GRCm39)	H420L	probably damaging	Het
Tec	T	C	5: 72,936,792 (GRCm39)	K236E	probably damaging	Het
Ttn	A	G	2: 76,545,676 (GRCm39)	V32549A	probably damaging	Het
Wdfy3	T	C	5: 102,030,832 (GRCm39)	H2299R	possibly damaging	Het
Zfp729b	A	G	13: 67,743,403 (GRCm39)	V64A	possibly damaging	Het

Other mutations in Uqcc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0021:Uqcc4	UTSW	17	25,403,957 (GRCm39)	missense	possibly damaging	0.85
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'- GTCGAGGTCGCTATGAACAGTGTC -3'
(R):5'- TGTTACGTTCTAGCCCCGTAGAGG -3'

Sequencing Primer
(F):5'- ATGAACAGTGTCCTGTGCTCAC -3'
(R):5'- AGGACCTTCCGGCTCCTC -3'

Posted On

2014-01-05