Incidental Mutation 'R0433:Uqcc1'
ID 38901
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 038635-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R0433 (G1)
Quality Score 183
Status Validated
Chromosome 2
Chromosomal Location 155688814-155772230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155752288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 98 (Y98H)
Ref Sequence ENSEMBL: ENSMUSP00000122886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006036] [ENSMUST00000109631] [ENSMUST00000109632] [ENSMUST00000109636] [ENSMUST00000133726] [ENSMUST00000142655] [ENSMUST00000152766] [ENSMUST00000159238] [ENSMUST00000151078] [ENSMUST00000136933]
AlphaFold Q9CWU6
Predicted Effect probably damaging
Transcript: ENSMUST00000006036
AA Change: Y104H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882
AA Change: Y104H

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 105 191 8.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109631
SMART Domains Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 63 203 2.1e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109632
AA Change: Y104H

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882
AA Change: Y104H

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 131 191 4.3e-19 PFAM
Pfam:Ubiq_cyt_C_chap 188 245 2.9e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109636
AA Change: Y104H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: Y104H

DomainStartEndE-ValueType
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: Y104H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000142655
AA Change: Y9H

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000152766
AA Change: Y98H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: Y98H

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 98 238 3.4e-45 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000139232
AA Change: Y70H
SMART Domains Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882
AA Change: Y70H

DomainStartEndE-ValueType
Pfam:Ubiq_cyt_C_chap 98 238 2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162258
Predicted Effect probably benign
Transcript: ENSMUST00000159238
Predicted Effect probably benign
Transcript: ENSMUST00000151078
Predicted Effect probably benign
Transcript: ENSMUST00000136933
Meta Mutation Damage Score 0.1312 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 99% (108/109)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,636 (GRCm39) V199A possibly damaging Het
Abcb5 T C 12: 118,841,545 (GRCm39) M967V probably benign Het
Adcy10 T A 1: 165,379,591 (GRCm39) L951Q probably damaging Het
Amer2 A T 14: 60,616,032 (GRCm39) S76C probably damaging Het
Atad1 T C 19: 32,675,877 (GRCm39) I182M probably benign Het
Bpi A G 2: 158,100,339 (GRCm39) D42G probably damaging Het
C7 G T 15: 5,018,398 (GRCm39) T815K probably damaging Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Camk1g A G 1: 193,036,366 (GRCm39) F165L probably damaging Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccser2 A C 14: 36,640,486 (GRCm39) F37L probably damaging Het
Cfap43 A G 19: 47,814,210 (GRCm39) F208S probably benign Het
Cfap54 G A 10: 92,814,942 (GRCm39) probably benign Het
Cfap69 A C 5: 5,699,853 (GRCm39) D62E probably damaging Het
Cnksr2 A T X: 156,671,554 (GRCm39) M483K probably benign Het
Cnksr2 C A X: 156,671,553 (GRCm39) M483I probably benign Het
Cog8 T C 8: 107,783,110 (GRCm39) S60G possibly damaging Het
Col4a3 C T 1: 82,647,940 (GRCm39) P484S unknown Het
Col6a4 C T 9: 105,945,193 (GRCm39) G974R probably damaging Het
Cplane1 T C 15: 8,246,046 (GRCm39) S1473P probably benign Het
Dbnl T G 11: 5,746,825 (GRCm39) probably null Het
Dhcr7 T C 7: 143,394,200 (GRCm39) C114R possibly damaging Het
Dnah2 C A 11: 69,350,114 (GRCm39) D2340Y probably damaging Het
Dnai4 T C 4: 102,960,450 (GRCm39) N67D probably benign Het
Dusp10 T A 1: 183,801,393 (GRCm39) Y387N probably damaging Het
Eipr1 C T 12: 28,909,330 (GRCm39) T199I possibly damaging Het
Emc2 T G 15: 43,360,520 (GRCm39) probably null Het
Enpp3 A G 10: 24,696,495 (GRCm39) S147P probably benign Het
Fam133b T A 5: 3,608,560 (GRCm39) probably benign Het
Fat1 C A 8: 45,477,686 (GRCm39) T2244K possibly damaging Het
Fbn1 A G 2: 125,190,135 (GRCm39) S1453P possibly damaging Het
Fez2 A T 17: 78,725,476 (GRCm39) F13I probably damaging Het
Ggnbp2 T C 11: 84,727,246 (GRCm39) K530R probably damaging Het
Gpa33 T C 1: 165,991,330 (GRCm39) probably benign Het
Gpr142 T C 11: 114,696,823 (GRCm39) I123T probably damaging Het
Il21 T G 3: 37,286,684 (GRCm39) I11L possibly damaging Het
Klhl7 A G 5: 24,332,700 (GRCm39) E86G probably damaging Het
Klk10 G T 7: 43,430,989 (GRCm39) A11S possibly damaging Het
Knl1 A T 2: 118,934,542 (GRCm39) D2115V probably damaging Het
Lonp2 A G 8: 87,360,582 (GRCm39) D185G probably damaging Het
Lrrc47 T C 4: 154,102,822 (GRCm39) probably benign Het
Lrrcc1 A G 3: 14,624,434 (GRCm39) I698V probably damaging Het
Lzts2 T C 19: 45,010,115 (GRCm39) V83A possibly damaging Het
Melk C A 4: 44,340,614 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,486 (GRCm39) V150I probably benign Het
Morn3 C A 5: 123,177,396 (GRCm39) M129I probably benign Het
Mroh2b T A 15: 4,971,116 (GRCm39) D1040E probably benign Het
Mroh5 T C 15: 73,661,877 (GRCm39) N438S probably benign Het
Mroh5 T A 15: 73,662,657 (GRCm39) Q387L probably damaging Het
Myh15 A G 16: 48,965,599 (GRCm39) D1168G probably damaging Het
Nek10 A G 14: 14,860,927 (GRCm38) E493G probably benign Het
Nipsnap3a A G 4: 53,000,316 (GRCm39) Y227C probably damaging Het
Nlrp9c T A 7: 26,085,244 (GRCm39) T112S probably benign Het
Nphp4 T C 4: 152,602,629 (GRCm39) V401A probably benign Het
Nr1h2 A G 7: 44,199,411 (GRCm39) *365Q probably null Het
Or13p5 T C 4: 118,592,287 (GRCm39) V187A probably benign Het
Or5p54 T C 7: 107,554,469 (GRCm39) I207T probably damaging Het
Pacs2 T A 12: 113,020,464 (GRCm39) V279D possibly damaging Het
Pdcd2 C T 17: 15,746,646 (GRCm39) C171Y probably benign Het
Pde11a T A 2: 76,168,050 (GRCm39) D301V possibly damaging Het
Pfpl T G 19: 12,406,839 (GRCm39) N363K probably damaging Het
Phf14 T A 6: 11,933,742 (GRCm39) S201R probably damaging Het
Pip4k2c G A 10: 127,044,815 (GRCm39) P66S probably benign Het
Pou2f3 G T 9: 43,038,693 (GRCm39) H392N probably benign Het
Pou3f1 G T 4: 124,552,697 (GRCm39) G400C probably damaging Het
Ptprg T C 14: 12,220,620 (GRCm38) I1219T probably damaging Het
Rfx6 A G 10: 51,596,124 (GRCm39) D435G probably damaging Het
Rhpn2 T A 7: 35,084,899 (GRCm39) S598T probably benign Het
Sdccag8 C A 1: 176,672,387 (GRCm39) probably null Het
Sec16b C A 1: 157,362,279 (GRCm39) Y43* probably null Het
Sele T C 1: 163,876,813 (GRCm39) Y30H possibly damaging Het
Sgsm2 C T 11: 74,749,016 (GRCm39) probably null Het
Slc45a2 T C 15: 11,025,831 (GRCm39) Y394H probably benign Het
Slc4a10 T G 2: 62,120,327 (GRCm39) I788S probably benign Het
Slmap A T 14: 26,174,749 (GRCm39) L161* probably null Het
Slx4 A T 16: 3,803,882 (GRCm39) D977E probably benign Het
Spata31e5 A T 1: 28,816,423 (GRCm39) Y536* probably null Het
Spata31f3 A G 4: 42,874,013 (GRCm39) probably benign Het
Spen A T 4: 141,211,069 (GRCm39) M608K unknown Het
St8sia4 G C 1: 95,519,429 (GRCm39) T353R probably damaging Het
Stab2 G T 10: 86,679,355 (GRCm39) probably benign Het
Stx12 C T 4: 132,585,741 (GRCm39) G213D probably damaging Het
Synj2 A T 17: 6,084,123 (GRCm39) N270Y probably damaging Het
Tdrd9 C T 12: 111,992,015 (GRCm39) R438* probably null Het
Tert T C 13: 73,775,200 (GRCm39) Y18H probably damaging Het
Tph1 A T 7: 46,303,245 (GRCm39) F244L probably damaging Het
Triobp T C 15: 78,852,401 (GRCm39) F852L possibly damaging Het
Trpv1 T C 11: 73,143,834 (GRCm39) probably benign Het
Uggt2 A T 14: 119,312,741 (GRCm39) probably null Het
Ulk4 A G 9: 120,873,885 (GRCm39) I1182T probably benign Het
Usp25 A G 16: 76,906,105 (GRCm39) I854V probably benign Het
Usp50 T C 2: 126,603,464 (GRCm39) S361G probably damaging Het
Uspl1 C A 5: 149,151,625 (GRCm39) Q743K probably damaging Het
Vmn2r3 A G 3: 64,183,054 (GRCm39) V215A possibly damaging Het
Vmn2r61 A T 7: 41,915,335 (GRCm39) H94L probably benign Het
Vps37c T C 19: 10,690,393 (GRCm39) V285A probably benign Het
Vwa8 T C 14: 79,300,116 (GRCm39) V983A probably damaging Het
Zcchc9 C T 13: 91,954,081 (GRCm39) R58H probably benign Het
Zdbf2 T C 1: 63,345,302 (GRCm39) V1227A possibly damaging Het
Zfp292 T C 4: 34,839,959 (GRCm39) K64E probably damaging Het
Zfp948 A G 17: 21,807,764 (GRCm39) T319A probably benign Het
Zp3r T G 1: 130,504,870 (GRCm39) probably benign Het
Other mutations in Uqcc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5049:Uqcc1 UTSW 2 155,752,341 (GRCm39) missense probably damaging 1.00
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'- GCTATTATCCTGCCACCAAGCAAGC -3'
(R):5'- ACACTTGCCTAGAGTGTGAAGCCC -3'

Sequencing Primer
(F):5'- CTCACTGTTCTGACTAGCAAAG -3'
(R):5'- CCTGGGCTTGACTGAAGTAAAAC -3'
Posted On 2013-05-23