Incidental Mutation 'IGL01784:Mccc1'
| ID |
154257 |
| 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 # |
IGL01784
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 36030897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 390
(N390H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
[ENSMUST00000200163]
|
| AlphaFold |
Q99MR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029259
AA Change: N390H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: N390H
| 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: ENSMUST00000197580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199113
|
| SMART Domains |
Protein: ENSMUSP00000143266
Gene: ENSMUSG00000027709
| 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 |
possibly damaging
Transcript: ENSMUST00000200163
AA Change: N170H
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709
AA Change: N170H
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,445 (GRCm39) |
P309L |
possibly damaging |
Het |
| Abca4 |
A |
T |
3: 121,932,154 (GRCm39) |
K269N |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,854,399 (GRCm39) |
T839A |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,040,751 (GRCm39) |
D30G |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,217 (GRCm39) |
I149T |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,630,247 (GRCm39) |
D199G |
probably damaging |
Het |
| Cplx3 |
T |
C |
9: 57,527,847 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,507,784 (GRCm39) |
|
probably benign |
Het |
| Ensa |
T |
A |
3: 95,535,844 (GRCm39) |
|
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,425,427 (GRCm39) |
I405V |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,710,031 (GRCm39) |
L568M |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,329,994 (GRCm39) |
D128G |
unknown |
Het |
| Fra10ac1 |
T |
A |
19: 38,208,125 (GRCm39) |
H43L |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,053,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gsx1 |
A |
G |
5: 147,126,939 (GRCm39) |
D254G |
probably benign |
Het |
| Hoxb6 |
A |
G |
11: 96,191,639 (GRCm39) |
E187G |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,518,524 (GRCm39) |
I2385N |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,373 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,241,982 (GRCm39) |
D364G |
possibly damaging |
Het |
| Niban1 |
T |
A |
1: 151,525,116 (GRCm39) |
Y174N |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,806,314 (GRCm39) |
|
probably benign |
Het |
| Or6c8 |
C |
T |
10: 128,915,224 (GRCm39) |
V203M |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,321,902 (GRCm39) |
S75P |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,105,589 (GRCm39) |
A685S |
probably damaging |
Het |
| Pramel51 |
A |
G |
12: 88,143,085 (GRCm39) |
Y178H |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,485,724 (GRCm39) |
T539A |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,622,632 (GRCm39) |
S537T |
possibly damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,997,089 (GRCm39) |
T597I |
possibly damaging |
Het |
| Rtn4 |
C |
A |
11: 29,657,291 (GRCm39) |
Q482K |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 30,944,924 (GRCm39) |
I349T |
probably damaging |
Het |
| Sh3gl1 |
A |
C |
17: 56,326,325 (GRCm39) |
S108A |
possibly damaging |
Het |
| Tmc7 |
A |
T |
7: 118,146,538 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
G |
A |
1: 36,854,564 (GRCm39) |
T131I |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,397,800 (GRCm39) |
L505P |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,919,439 (GRCm39) |
Q231R |
unknown |
Het |
| Wnt7a |
A |
G |
6: 91,342,839 (GRCm39) |
C348R |
probably damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,705,547 (GRCm39) |
L86Q |
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 |
|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation