Incidental Mutation 'R4290:Mccc1'
| ID |
322985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mccc1
|
| Ensembl Gene |
ENSMUSG00000027709 |
| Gene Name |
methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) |
| Synonyms |
1810045E08Rik, MCCA, MCCalpha, 2310058B18Rik |
| MMRRC Submission |
041655-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36044217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 203
(V203A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
[ENSMUST00000200162]
[ENSMUST00000200163]
|
| AlphaFold |
Q99MR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029259
AA Change: V203A
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: V203A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
44 |
153 |
4.7e-50 |
PFAM |
|
Pfam:ATP-grasp_4
|
156 |
337 |
3.7e-20 |
PFAM |
|
Pfam:RimK
|
158 |
358 |
1e-6 |
PFAM |
|
Pfam:CPSase_L_D2
|
159 |
367 |
2.8e-79 |
PFAM |
|
Pfam:ATP-grasp_3
|
160 |
339 |
8.1e-9 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
165 |
335 |
1.2e-16 |
PFAM |
|
Pfam:ATP-grasp
|
166 |
337 |
3.7e-13 |
PFAM |
|
Biotin_carb_C
|
379 |
486 |
7.14e-48 |
SMART |
|
Pfam:Biotin_lipoyl
|
644 |
710 |
1.1e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198515
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199113
AA Change: V203A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143266
Gene: ENSMUSG00000027709
AA Change: V203A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
44 |
153 |
3.5e-48 |
PFAM |
|
Pfam:ATP-grasp_4
|
156 |
253 |
4.1e-10 |
PFAM |
|
Pfam:CPSase_L_D2
|
159 |
253 |
1.2e-24 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
165 |
254 |
1.6e-8 |
PFAM |
|
Pfam:ATP-grasp
|
166 |
253 |
8.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200162
|
| SMART Domains |
Protein: ENSMUSP00000143396
Gene: ENSMUSG00000027709
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200163
|
| SMART Domains |
Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dala_Dala_lig_C
|
1 |
115 |
3.8e-8 |
PFAM |
|
Pfam:ATP-grasp_4
|
1 |
117 |
1.5e-9 |
PFAM |
|
Pfam:CPSase_L_D2
|
1 |
147 |
3.9e-59 |
PFAM |
|
Pfam:Biotin_carb_C
|
159 |
200 |
1.5e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.3835 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (73/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,539,738 (GRCm39) |
N1545S |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
| Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,503,809 (GRCm39) |
S225P |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,858,650 (GRCm39) |
S728P |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,481 (GRCm39) |
K444R |
probably benign |
Het |
| Cox10 |
A |
T |
11: 63,855,081 (GRCm39) |
V400E |
probably benign |
Het |
| Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
| Ddr2 |
A |
G |
1: 169,818,178 (GRCm39) |
V443A |
probably benign |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| En1 |
C |
A |
1: 120,531,486 (GRCm39) |
A242E |
unknown |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
| Hepacam2 |
T |
A |
6: 3,487,237 (GRCm39) |
Y40F |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,871,023 (GRCm39) |
I191T |
probably damaging |
Het |
| Il19 |
T |
A |
1: 130,862,750 (GRCm39) |
T58S |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,002,709 (GRCm39) |
R594C |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,260,684 (GRCm39) |
|
probably null |
Het |
| Kcna1 |
T |
C |
6: 126,618,838 (GRCm39) |
D494G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,281,261 (GRCm39) |
|
probably null |
Het |
| Kmt5b |
T |
C |
19: 3,852,193 (GRCm39) |
Y125H |
possibly damaging |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Man1c1 |
T |
A |
4: 134,291,096 (GRCm39) |
D600V |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mettl5 |
T |
C |
2: 69,711,176 (GRCm39) |
N114S |
probably benign |
Het |
| Mindy2 |
T |
A |
9: 70,538,376 (GRCm39) |
R320W |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,088,876 (GRCm39) |
S894P |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,114,633 (GRCm39) |
H1736L |
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2aj4 |
A |
T |
16: 19,384,994 (GRCm39) |
M213K |
possibly damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or2z9 |
A |
G |
8: 72,853,612 (GRCm39) |
T3A |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,701,442 (GRCm39) |
N8S |
probably damaging |
Het |
| Or6b6 |
A |
C |
7: 106,570,918 (GRCm39) |
L211R |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,391,231 (GRCm39) |
|
probably null |
Het |
| Rps15a-ps1 |
A |
G |
10: 106,028,496 (GRCm39) |
|
noncoding transcript |
Het |
| Rps27a |
A |
G |
11: 29,495,933 (GRCm39) |
Y140H |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Ttc19 |
A |
G |
11: 62,176,753 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,870,077 (GRCm39) |
D332G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,873,605 (GRCm39) |
V83A |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,419,807 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Mccc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Mccc1
|
APN |
3 |
36,044,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01601:Mccc1
|
APN |
3 |
36,044,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01671:Mccc1
|
APN |
3 |
36,018,609 (GRCm39) |
missense |
probably benign |
|
|
IGL01784:Mccc1
|
APN |
3 |
36,030,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01878:Mccc1
|
APN |
3 |
36,030,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Mccc1
|
APN |
3 |
36,028,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02709:Mccc1
|
APN |
3 |
36,044,888 (GRCm39) |
makesense |
probably null |
|
|
IGL02932:Mccc1
|
APN |
3 |
36,014,178 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02972:Mccc1
|
APN |
3 |
36,039,238 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03145:Mccc1
|
APN |
3 |
36,022,595 (GRCm39) |
missense |
probably benign |
|
|
P0019:Mccc1
|
UTSW |
3 |
36,018,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0244:Mccc1
|
UTSW |
3 |
36,044,196 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0391:Mccc1
|
UTSW |
3 |
36,017,719 (GRCm39) |
splice site |
probably benign |
|
|
R1466:Mccc1
|
UTSW |
3 |
36,028,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1466:Mccc1
|
UTSW |
3 |
36,028,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1591:Mccc1
|
UTSW |
3 |
36,044,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1663:Mccc1
|
UTSW |
3 |
36,033,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Mccc1
|
UTSW |
3 |
36,039,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3800:Mccc1
|
UTSW |
3 |
36,054,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Mccc1
|
UTSW |
3 |
36,044,217 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4707:Mccc1
|
UTSW |
3 |
36,030,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4757:Mccc1
|
UTSW |
3 |
36,050,066 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4783:Mccc1
|
UTSW |
3 |
36,030,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4785:Mccc1
|
UTSW |
3 |
36,030,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4798:Mccc1
|
UTSW |
3 |
36,039,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4807:Mccc1
|
UTSW |
3 |
36,039,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Mccc1
|
UTSW |
3 |
36,051,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4917:Mccc1
|
UTSW |
3 |
36,051,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5010:Mccc1
|
UTSW |
3 |
36,033,166 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5106:Mccc1
|
UTSW |
3 |
36,026,713 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5168:Mccc1
|
UTSW |
3 |
36,044,929 (GRCm39) |
nonsense |
probably null |
|
|
R5241:Mccc1
|
UTSW |
3 |
36,028,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5444:Mccc1
|
UTSW |
3 |
36,030,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5677:Mccc1
|
UTSW |
3 |
36,044,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5838:Mccc1
|
UTSW |
3 |
36,039,231 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5881:Mccc1
|
UTSW |
3 |
36,018,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6248:Mccc1
|
UTSW |
3 |
36,044,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Mccc1
|
UTSW |
3 |
36,030,876 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6564:Mccc1
|
UTSW |
3 |
36,030,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6612:Mccc1
|
UTSW |
3 |
36,048,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6769:Mccc1
|
UTSW |
3 |
36,043,992 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6771:Mccc1
|
UTSW |
3 |
36,043,992 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7135:Mccc1
|
UTSW |
3 |
36,049,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Mccc1
|
UTSW |
3 |
36,037,944 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7274:Mccc1
|
UTSW |
3 |
36,044,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Mccc1
|
UTSW |
3 |
36,029,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7689:Mccc1
|
UTSW |
3 |
36,015,132 (GRCm39) |
nonsense |
probably null |
|
|
R8300:Mccc1
|
UTSW |
3 |
36,017,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8359:Mccc1
|
UTSW |
3 |
36,018,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8701:Mccc1
|
UTSW |
3 |
36,049,933 (GRCm39) |
missense |
probably benign |
|
|
R9225:Mccc1
|
UTSW |
3 |
36,018,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9331:Mccc1
|
UTSW |
3 |
36,014,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9407:Mccc1
|
UTSW |
3 |
36,030,865 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9557:Mccc1
|
UTSW |
3 |
36,049,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Mccc1
|
UTSW |
3 |
36,014,185 (GRCm39) |
nonsense |
probably null |
|
|
R9689:Mccc1
|
UTSW |
3 |
36,030,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGACTTCTTCGCCTCCC -3'
(R):5'- TTAACATTGGTTCCAGGCGC -3'
Sequencing Primer
(F):5'- CTCCGGGCTGACTCTAACTG -3'
(R):5'- AAGCACTGCCTTTACCTGTGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation