Incidental Mutation 'IGL02709:Mccc1'
ID |
304499 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mccc1
|
Ensembl Gene |
ENSMUSG00000027709 |
Gene Name |
methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) |
Synonyms |
1810045E08Rik, MCCA, MCCalpha, 2310058B18Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02709
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to T
at 36044888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Lysine
at position 85
(*85K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
[ENSMUST00000200162]
[ENSMUST00000200163]
|
AlphaFold |
Q99MR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029259
AA Change: I146K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029259 Gene: ENSMUSG00000027709 AA Change: I146K
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: I146K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143266 Gene: ENSMUSG00000027709 AA Change: I146K
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 null
Transcript: ENSMUST00000200162
AA Change: *85K
|
SMART Domains |
Protein: ENSMUSP00000143396 Gene: ENSMUSG00000027709 AA Change: *85K
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
G |
3: 59,654,619 (GRCm39) |
Y151C |
probably damaging |
Het |
Aco1 |
G |
A |
4: 40,180,199 (GRCm39) |
V367M |
possibly damaging |
Het |
Acsm5 |
G |
A |
7: 119,134,041 (GRCm39) |
W274* |
probably null |
Het |
Ago1 |
G |
A |
4: 126,347,433 (GRCm39) |
Q135* |
probably null |
Het |
Bmpr1b |
A |
T |
3: 141,562,314 (GRCm39) |
L291Q |
probably damaging |
Het |
Cdcp1 |
A |
G |
9: 123,002,879 (GRCm39) |
Y731H |
probably damaging |
Het |
Clrn2 |
A |
G |
5: 45,617,495 (GRCm39) |
N122S |
probably damaging |
Het |
Col4a3 |
G |
T |
1: 82,656,833 (GRCm39) |
G751W |
unknown |
Het |
Ctsc |
C |
T |
7: 87,957,347 (GRCm39) |
A294V |
probably damaging |
Het |
Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
Dennd6b |
A |
T |
15: 89,075,125 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,850,809 (GRCm39) |
Y1659* |
probably null |
Het |
Dspp |
A |
C |
5: 104,325,116 (GRCm39) |
D493A |
unknown |
Het |
Dyrk1a |
C |
T |
16: 94,486,102 (GRCm39) |
A445V |
probably benign |
Het |
E030025P04Rik |
C |
A |
11: 109,030,324 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
G |
4: 58,872,699 (GRCm39) |
S201P |
possibly damaging |
Het |
Foxd4 |
T |
C |
19: 24,876,973 (GRCm39) |
H409R |
probably damaging |
Het |
Fubp3 |
A |
G |
2: 31,485,343 (GRCm39) |
|
probably benign |
Het |
Herc1 |
A |
G |
9: 66,404,962 (GRCm39) |
K4511E |
probably damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Map1lc3b |
T |
A |
8: 122,322,768 (GRCm39) |
L82Q |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,578,877 (GRCm39) |
S844T |
possibly damaging |
Het |
Memo1 |
G |
A |
17: 74,552,027 (GRCm39) |
L90F |
probably damaging |
Het |
Mfrp |
A |
G |
9: 44,014,561 (GRCm39) |
H236R |
probably benign |
Het |
Mmrn1 |
G |
A |
6: 60,950,030 (GRCm39) |
D327N |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,392,697 (GRCm39) |
E3178G |
probably damaging |
Het |
Pcsk9 |
A |
G |
4: 106,304,886 (GRCm39) |
|
probably benign |
Het |
Pros1 |
T |
C |
16: 62,719,308 (GRCm39) |
L110P |
probably damaging |
Het |
Reck |
A |
G |
4: 43,913,791 (GRCm39) |
Y215C |
probably damaging |
Het |
Ripk4 |
T |
C |
16: 97,544,766 (GRCm39) |
D627G |
probably damaging |
Het |
Rnf144a |
G |
T |
12: 26,371,009 (GRCm39) |
H151N |
probably damaging |
Het |
Slc39a9 |
T |
A |
12: 80,713,421 (GRCm39) |
H106Q |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,682,029 (GRCm39) |
|
probably benign |
Het |
Sympk |
T |
G |
7: 18,781,463 (GRCm39) |
H806Q |
probably benign |
Het |
Tars2 |
C |
A |
3: 95,649,383 (GRCm39) |
|
probably benign |
Het |
Thap3 |
T |
A |
4: 152,070,169 (GRCm39) |
H75L |
probably damaging |
Het |
Trappc8 |
T |
C |
18: 20,970,235 (GRCm39) |
I918M |
possibly damaging |
Het |
Ube2j2 |
T |
C |
4: 156,041,788 (GRCm39) |
V249A |
probably damaging |
Het |
Ubqln3 |
T |
G |
7: 103,790,543 (GRCm39) |
T516P |
probably benign |
Het |
Unc13c |
A |
G |
9: 73,466,238 (GRCm39) |
S1810P |
probably benign |
Het |
Vmn1r4 |
T |
A |
6: 56,933,524 (GRCm39) |
Y9* |
probably null |
Het |
Vmn1r89 |
T |
A |
7: 12,954,131 (GRCm39) |
M221K |
probably damaging |
Het |
Vmn2r1 |
G |
T |
3: 64,012,355 (GRCm39) |
V739F |
probably benign |
Het |
Vmn2r25 |
C |
T |
6: 123,816,723 (GRCm39) |
R286Q |
possibly damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,325,711 (GRCm39) |
Y110N |
possibly damaging |
Het |
Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
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 |
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 |
R4290:Mccc1
|
UTSW |
3 |
36,044,217 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2015-04-16 |