Mutagenetix > Incidental Mutation

Incidental Mutation 'R5667:Uqcc4'

444502

Institutional Source

Beutler Lab

Gene Symbol

Uqcc4

Ensembl Gene

ENSMUSG00000067722

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 4

Synonyms

BC003965

MMRRC Submission

043310-MU

Accession Numbers

Essential gene?

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

Stock #

R5667 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25403535-25406636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25403963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 101 (S101N)

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 damaging
Transcript: ENSMUST00000088307
AA Change: S101N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137122
Gene: ENSMUSG00000067722
AA Change: S101N

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

0.1006

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adamts16	A	T	13: 70,984,494 (GRCm39)	Y56*	probably null	Het
Ak2	T	A	4: 128,902,040 (GRCm39)	F238I	probably damaging	Het
Akap8l	T	C	17: 32,557,266 (GRCm39)	Y115C	probably damaging	Het
Alms1	A	G	6: 85,673,753 (GRCm39)	D3116G	probably damaging	Het
Arhgap24	T	G	5: 102,994,037 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,861,310 (GRCm39)	E491G	probably damaging	Het
Atp8b1	C	T	18: 64,714,994 (GRCm39)	C86Y	probably damaging	Het
Atxn1	T	C	13: 45,710,853 (GRCm39)	K693R	probably benign	Het
Bltp1	A	T	3: 36,971,826 (GRCm39)	T520S	probably benign	Het
Btbd10	T	C	7: 112,931,931 (GRCm39)	K165R	probably damaging	Het
Capn11	C	T	17: 45,950,600 (GRCm39)	R293Q	possibly damaging	Het
Chordc1	T	G	9: 18,206,628 (GRCm39)	F33V	probably damaging	Het
Clca4b	G	A	3: 144,627,624 (GRCm39)	T449I	probably benign	Het
Clip4	A	C	17: 72,096,878 (GRCm39)	M1L	probably damaging	Het
Cyfip1	C	T	7: 55,523,478 (GRCm39)	T90I	probably benign	Het
Cyp4v3	G	T	8: 45,761,572 (GRCm39)	T417K	possibly damaging	Het
Exoc3l4	T	C	12: 111,389,851 (GRCm39)	I142T	probably damaging	Het
Flnb	T	A	14: 7,890,843 (GRCm38)	I575N	probably benign	Het
Foxa1	A	T	12: 57,589,081 (GRCm39)	S380T	probably benign	Het
Foxi2	A	T	7: 135,012,668 (GRCm39)		probably null	Het
Gad1-ps	A	T	10: 99,280,395 (GRCm39)		noncoding transcript	Het
Gpa33	A	G	1: 165,974,360 (GRCm39)	T66A	possibly damaging	Het
Gpr45	A	G	1: 43,072,218 (GRCm39)	Y287C	probably damaging	Het
H2-Eb1	C	A	17: 34,533,229 (GRCm39)	Y150*	probably null	Het
Hsd17b8	T	C	17: 34,245,435 (GRCm39)	D233G	probably null	Het
Ifna6	A	T	4: 88,745,906 (GRCm39)	Q85L	probably damaging	Het
Ivns1abp	G	T	1: 151,229,760 (GRCm39)	L149F	probably benign	Het
Kank4	A	G	4: 98,653,698 (GRCm39)		probably null	Het
Katnip	T	A	7: 125,442,627 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,066,540 (GRCm39)	C1114S	probably damaging	Het
Lmbr1l	A	C	15: 98,805,489 (GRCm39)	D337E	possibly damaging	Het
Lrrn3	A	C	12: 41,502,297 (GRCm39)	S673R	possibly damaging	Het
Ly75	T	C	2: 60,138,655 (GRCm39)	D1404G	probably damaging	Het
Muc4	A	G	16: 32,575,011 (GRCm39)	T1199A	probably benign	Het
Mycn	A	T	12: 12,990,045 (GRCm39)	M117K	possibly damaging	Het
Nalcn	A	G	14: 123,532,818 (GRCm39)	I1314T	probably damaging	Het
Nod1	T	C	6: 54,910,561 (GRCm39)	T869A	probably benign	Het
Or2y16	T	C	11: 49,335,140 (GRCm39)	V154A	probably benign	Het
Or4k39	C	T	2: 111,238,818 (GRCm39)		noncoding transcript	Het
Plekhg2	A	T	7: 28,067,064 (GRCm39)	I356N	probably damaging	Het
Ptpru	T	A	4: 131,547,501 (GRCm39)	Y112F	possibly damaging	Het
Rpl36al	G	A	12: 69,229,897 (GRCm39)	P5L	possibly damaging	Het
Ryr2	A	G	13: 11,774,722 (GRCm39)	W1145R	probably damaging	Het
Semp2l2b	T	A	10: 21,942,742 (GRCm39)	T413S	possibly damaging	Het
Slc11a2	A	G	15: 100,301,169 (GRCm39)	Y295H	probably damaging	Het
Slc22a6	A	G	19: 8,599,148 (GRCm39)		probably null	Het
Styxl1	A	G	5: 135,785,977 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,666,441 (GRCm39)	S288P	possibly damaging	Het
Trpv4	A	G	5: 114,772,617 (GRCm39)	L371P	probably damaging	Het
Usp8	A	G	2: 126,584,345 (GRCm39)	D518G	probably benign	Het
Washc4	T	C	10: 83,405,892 (GRCm39)	S463P	probably 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
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
R5668:Uqcc4	UTSW	17	25,403,963 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTTCGCGAAGTTTGCATCC -3'
(R):5'- GCAGAACCAGTTCAGAAATCGTC -3'

Sequencing Primer
(F):5'- AAGTTTGCATCCGCCGC -3'
(R):5'- GAACCAGTTCAGAAATCGTCAAATTC -3'

Posted On

2016-11-09