Incidental Mutation 'R9412:Uqcc1'
| ID |
711837 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R9412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155688814-155772230 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155693329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 235
(C235R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006036]
[ENSMUST00000109631]
[ENSMUST00000109632]
[ENSMUST00000109636]
[ENSMUST00000133726]
[ENSMUST00000136933]
[ENSMUST00000151078]
[ENSMUST00000152766]
|
| AlphaFold |
Q9CWU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006036
AA Change: C155R
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000006036
Gene: ENSMUSG00000005882
AA Change: C155R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubiq_cyt_C_chap
|
105 |
191 |
8.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109631
AA Change: C167R
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105259
Gene: ENSMUSG00000005882
AA Change: C167R
| 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: C209R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105260
Gene: ENSMUSG00000005882
AA Change: C209R
| 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 benign
Transcript: ENSMUST00000109636
AA Change: C235R
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105264
Gene: ENSMUSG00000005882
AA Change: C235R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubiq_cyt_C_chap
|
131 |
271 |
6.7e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136933
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123019
Gene: ENSMUSG00000005882
AA Change: C201R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubiq_cyt_C_chap
|
98 |
238 |
2e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151078
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152766
AA Change: C202R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122886
Gene: ENSMUSG00000005882
AA Change: C202R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubiq_cyt_C_chap
|
98 |
238 |
3.4e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
A |
8: 13,604,695 (GRCm39) |
T203S |
possibly damaging |
Het |
| 2700049A03Rik |
G |
A |
12: 71,235,457 (GRCm39) |
E1136K |
possibly damaging |
Het |
| Abca6 |
C |
A |
11: 110,103,059 (GRCm39) |
R844L |
probably damaging |
Het |
| Abcb9 |
C |
T |
5: 124,221,753 (GRCm39) |
R207Q |
probably benign |
Het |
| Abcd4 |
T |
C |
12: 84,655,581 (GRCm39) |
R343G |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,855,564 (GRCm39) |
M1K |
probably null |
Het |
| Art3 |
A |
G |
5: 92,541,013 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,230 (GRCm39) |
M475T |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,940,201 (GRCm39) |
P992L |
possibly damaging |
Het |
| Dclk3 |
G |
A |
9: 111,311,819 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
T |
C |
10: 62,429,881 (GRCm39) |
T288A |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,703 (GRCm39) |
D2433G |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
| Fmnl2 |
G |
T |
2: 53,007,016 (GRCm39) |
R776L |
unknown |
Het |
| Fndc1 |
T |
A |
17: 7,991,198 (GRCm39) |
T833S |
unknown |
Het |
| Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,117,589 (GRCm39) |
Y711C |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,351 (GRCm39) |
K145E |
probably damaging |
Het |
| Kdm5a |
A |
G |
6: 120,365,991 (GRCm39) |
Y377C |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,409,287 (GRCm39) |
T1611S |
probably damaging |
Het |
| Lrrc28 |
T |
A |
7: 67,181,512 (GRCm39) |
E241V |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,967,451 (GRCm39) |
Q596* |
probably null |
Het |
| Nrde2 |
C |
A |
12: 100,096,681 (GRCm39) |
E1040* |
probably null |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pcdh15 |
CAGAGA |
CAGA |
10: 74,481,663 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
T |
G |
8: 41,740,788 (GRCm39) |
N972K |
probably damaging |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,755,772 (GRCm39) |
T222A |
probably damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,732,779 (GRCm39) |
K556N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,662,288 (GRCm39) |
T936A |
probably benign |
Het |
| Scap |
T |
C |
9: 110,207,673 (GRCm39) |
C461R |
possibly damaging |
Het |
| Scgb1b10 |
T |
A |
7: 31,800,627 (GRCm39) |
L72* |
probably null |
Het |
| Serpinb6c |
C |
A |
13: 34,081,371 (GRCm39) |
A93S |
probably benign |
Het |
| Serpinb9c |
C |
A |
13: 33,334,231 (GRCm39) |
L298F |
probably damaging |
Het |
| Slf2 |
A |
T |
19: 44,930,460 (GRCm39) |
E512D |
probably benign |
Het |
| Snapc3 |
C |
T |
4: 83,354,570 (GRCm39) |
H194Y |
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tert |
C |
T |
13: 73,797,046 (GRCm39) |
R1095W |
probably benign |
Het |
| Tut4 |
A |
T |
4: 108,414,561 (GRCm39) |
H46L |
|
Het |
| Unc13c |
T |
C |
9: 73,839,772 (GRCm39) |
I360V |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,991,484 (GRCm39) |
I626F |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,954,213 (GRCm39) |
C792W |
probably damaging |
Het |
| Zfp57 |
C |
T |
17: 37,320,814 (GRCm39) |
P223S |
probably benign |
Het |
| Zfp787 |
T |
C |
7: 6,135,946 (GRCm39) |
T102A |
probably damaging |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCTTAAACTAGCTCCTGG -3'
(R):5'- TCCCGTGTTCTTCTGTATGAAAAG -3'
Sequencing Primer
(F):5'- AAACTAGCTCCTGGTATGTCAGC -3'
(R):5'- TGTAACTCCAGTTCCAGGAAGCTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation