Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Uqcc1'

394503

Institutional Source

Beutler Lab

Gene Symbol

Uqcc1

Ensembl Gene

ENSMUSG00000005882

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 1

Synonyms

mbFZb, 2410003P15Rik, 2310079L17Rik, Uqcc, Cbp3, Bfzp, 3110038N19Rik

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.919) question?

Stock #

R5049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155688814-155772230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155752341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000121610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006036] [ENSMUST00000109631] [ENSMUST00000109632] [ENSMUST00000109636] [ENSMUST00000133726] [ENSMUST00000136933] [ENSMUST00000152766] [ENSMUST00000151078] [ENSMUST00000142655] [ENSMUST00000159238]

AlphaFold

Q9CWU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006036
AA Change: V86A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882
AA Change: V86A

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	105	191	8.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109631

SMART Domains

Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	63	203	2.1e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109632
AA Change: V86A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882
AA Change: V86A

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	131	191	4.3e-19	PFAM
Pfam:Ubiq_cyt_C_chap	188	245	2.9e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109636
AA Change: V86A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: V86A

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	131	271	6.7e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123790

Predicted Effect

probably damaging
Transcript: ENSMUST00000133726
AA Change: V86A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146995

Predicted Effect

probably damaging
Transcript: ENSMUST00000152766
AA Change: V80A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: V80A

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	98	238	3.4e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162258

Predicted Effect

unknown
Transcript: ENSMUST00000139232
AA Change: V52A

SMART Domains

Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882
AA Change: V52A

Domain	Start	End	E-Value	Type
Pfam:Ubiq_cyt_C_chap	98	238	2e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152818

Predicted Effect

probably benign
Transcript: ENSMUST00000151078

Predicted Effect

probably benign
Transcript: ENSMUST00000142655

Predicted Effect

probably benign
Transcript: ENSMUST00000159238

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,321,698 (GRCm39)	S76P	probably damaging	Het
Acot8	A	G	2: 164,641,610 (GRCm39)		probably benign	Het
Angptl7	A	G	4: 148,582,468 (GRCm39)	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,408,686 (GRCm39)	T283A	probably benign	Het
Bltp1	T	A	3: 37,094,655 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,095,539 (GRCm39)	M1016T	probably damaging	Het
Brd3	G	T	2: 27,340,589 (GRCm39)		probably benign	Het
C130026L21Rik	T	A	5: 111,729,702 (GRCm39)		noncoding transcript	Het
Cbr4	T	G	8: 61,948,238 (GRCm39)		probably null	Het
Ccl19	A	G	4: 42,756,268 (GRCm39)		probably null	Het
Ccl2	G	T	11: 81,927,333 (GRCm39)	C34F	probably damaging	Het
Dnah12	A	T	14: 26,456,852 (GRCm39)	T873S	probably benign	Het
Dnah2	T	C	11: 69,338,992 (GRCm39)	N3118S	probably damaging	Het
Elapor2	A	G	5: 9,478,488 (GRCm39)	T451A	probably damaging	Het
Epb41l1	C	A	2: 156,366,859 (GRCm39)	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,313,481 (GRCm39)	M567K	probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Foxf2	T	C	13: 31,811,158 (GRCm39)	S366P	probably benign	Het
Gamt	T	A	10: 80,094,788 (GRCm39)	T186S	probably benign	Het
Gcn1	T	A	5: 115,744,730 (GRCm39)	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Golga1	A	T	2: 38,937,747 (GRCm39)	M115K	probably damaging	Het
Hapstr1	T	A	16: 8,661,073 (GRCm39)	D183E	probably damaging	Het
Herc3	A	G	6: 58,871,524 (GRCm39)		probably null	Het
Hes2	C	A	4: 152,244,331 (GRCm39)	L39I	possibly damaging	Het
Hopx	C	A	5: 77,242,899 (GRCm39)		probably benign	Het
Idi1	C	T	13: 8,938,078 (GRCm39)	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,571,481 (GRCm39)	C325*	probably null	Het
Ighv7-3	T	C	12: 114,116,953 (GRCm39)	I70V	probably benign	Het
Kcnq3	T	C	15: 66,157,746 (GRCm39)	T110A	probably benign	Het
Kif5a	T	C	10: 127,075,708 (GRCm39)	D451G	possibly damaging	Het
Lama3	A	G	18: 12,715,668 (GRCm39)	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,705,086 (GRCm39)	D371E	probably damaging	Het
Lyst	T	A	13: 13,810,649 (GRCm39)	V773E	probably damaging	Het
Map4	T	A	9: 109,908,882 (GRCm39)	L23*	probably null	Het
Mapkbp1	G	T	2: 119,845,982 (GRCm39)		probably benign	Het
Mrpl30	A	T	1: 37,936,791 (GRCm39)	D52V	possibly damaging	Het
Or10ag57	A	T	2: 87,219,002 (GRCm39)	T318S	probably benign	Het
Or13j1	A	T	4: 43,706,259 (GRCm39)	L103Q	probably damaging	Het
Pard3b	T	A	1: 62,200,320 (GRCm39)	H286Q	probably benign	Het
Parp4	A	G	14: 56,873,188 (GRCm39)	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,321,012 (GRCm39)	S22P	probably benign	Het
Prss32	A	T	17: 24,078,221 (GRCm39)	E302D	possibly damaging	Het
Prss45	A	G	9: 110,669,538 (GRCm39)	K205E	probably damaging	Het
Puf60	T	A	15: 75,942,323 (GRCm39)	I500F	probably damaging	Het
Ryr3	A	T	2: 112,470,516 (GRCm39)	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,228,950 (GRCm39)		probably benign	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,260,906 (GRCm39)	Y608H	probably damaging	Het
Socs7	G	T	11: 97,269,469 (GRCm39)	R429L	probably benign	Het
Sorcs3	C	A	19: 48,748,390 (GRCm39)	N786K	possibly damaging	Het
Sp4	A	T	12: 118,218,207 (GRCm39)	M680K	probably benign	Het
Tas2r131	T	C	6: 132,934,540 (GRCm39)	T90A	probably damaging	Het
Tasor2	A	T	13: 3,624,000 (GRCm39)	H1983Q	probably benign	Het
Tbx21	T	C	11: 97,005,536 (GRCm39)	H143R	probably benign	Het
Tg	T	A	15: 66,699,231 (GRCm39)	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057 (GRCm39)	S355P	probably benign	Het
Tmem86b	G	A	7: 4,631,465 (GRCm39)	P191S	possibly damaging	Het
Tnc	A	G	4: 63,936,223 (GRCm39)	C238R	probably damaging	Het
Tnn	T	A	1: 159,968,308 (GRCm39)	E361D	probably benign	Het
Tpp2	T	C	1: 44,040,633 (GRCm39)	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,954,536 (GRCm39)	N22S	probably damaging	Het
Trim75	T	C	8: 65,435,091 (GRCm39)		probably null	Het
Trrap	T	A	5: 144,763,527 (GRCm39)	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773 (GRCm39)	A561E	probably benign	Het
Vmn1r184	A	G	7: 25,966,793 (GRCm39)	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,920 (GRCm39)	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,306,019 (GRCm39)		probably null	Het
Vmn2r87	T	C	10: 130,308,298 (GRCm39)	T647A	probably damaging	Het
Vps13d	A	T	4: 144,813,336 (GRCm39)	H198Q	probably damaging	Het
Wdfy4	T	C	14: 32,874,627 (GRCm39)	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,347,478 (GRCm39)	M3240V	probably benign	Het
Zfp101	T	C	17: 33,600,872 (GRCm39)	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,184,938 (GRCm39)	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,863,110 (GRCm39)		noncoding transcript	Het

Other mutations in Uqcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01950:Uqcc1	APN	2	155,700,058 (GRCm39)	missense	probably damaging	1.00
IGL02883:Uqcc1	APN	2	155,753,749 (GRCm39)	missense	possibly damaging	0.93
R0433:Uqcc1	UTSW	2	155,752,288 (GRCm39)	missense	probably damaging	1.00
R1506:Uqcc1	UTSW	2	155,753,738 (GRCm39)	missense	probably damaging	0.98
R1579:Uqcc1	UTSW	2	155,763,641 (GRCm39)	nonsense	probably null
R4801:Uqcc1	UTSW	2	155,700,026 (GRCm39)	splice site	probably benign
R6042:Uqcc1	UTSW	2	155,763,564 (GRCm39)	missense	possibly damaging	0.48
R6526:Uqcc1	UTSW	2	155,693,343 (GRCm39)	missense	probably damaging	1.00
R7331:Uqcc1	UTSW	2	155,753,731 (GRCm39)	missense	probably benign
R7548:Uqcc1	UTSW	2	155,751,309 (GRCm39)	missense	probably damaging	1.00
R7721:Uqcc1	UTSW	2	155,700,066 (GRCm39)	missense	probably benign	0.13
R7780:Uqcc1	UTSW	2	155,752,073 (GRCm39)	splice site	probably null
R8723:Uqcc1	UTSW	2	155,729,100 (GRCm39)	nonsense	probably null
R9104:Uqcc1	UTSW	2	155,743,217 (GRCm39)	critical splice donor site	probably null
R9366:Uqcc1	UTSW	2	155,771,995 (GRCm39)	unclassified	probably benign
R9412:Uqcc1	UTSW	2	155,693,329 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GGAGTACCTTGGTCTTATCTACCAC -3'
(R):5'- ACTTGCCTAGAGTGTGAAGC -3'

Sequencing Primer
(F):5'- GAGGGATGTATTCTGAAGAAATTCTC -3'
(R):5'- CCCTGGGCTTGACTGAAGTAAAAC -3'

Posted On

2016-06-15