Incidental Mutation 'IGL03145:Mccc1'
| ID |
410888 |
| 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 # |
IGL03145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36022595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 566
(R566H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
|
| AlphaFold |
Q99MR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029259
AA Change: R566H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: R566H
| 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 |
noncoding transcript
Transcript: ENSMUST00000199006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199092
|
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
A |
G |
10: 21,469,337 (GRCm39) |
D17G |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,695 (GRCm39) |
P29S |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,874,880 (GRCm39) |
K434E |
possibly damaging |
Het |
| Akap7 |
T |
C |
10: 25,115,565 (GRCm39) |
T187A |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,508,159 (GRCm39) |
I479S |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,212,593 (GRCm39) |
E1606V |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,755 (GRCm39) |
S530G |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,727,040 (GRCm39) |
Y228H |
probably benign |
Het |
| Cybb |
C |
A |
X: 9,319,892 (GRCm39) |
E203* |
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,018,037 (GRCm39) |
M3594K |
probably damaging |
Het |
| Galnt14 |
C |
A |
17: 73,811,903 (GRCm39) |
Q439H |
possibly damaging |
Het |
| Gck |
T |
A |
11: 5,859,093 (GRCm39) |
D158V |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,798,222 (GRCm39) |
M85T |
possibly damaging |
Het |
| Hgsnat |
A |
T |
8: 26,436,480 (GRCm39) |
N557K |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,829,362 (GRCm39) |
T388A |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,712,191 (GRCm39) |
D692G |
probably benign |
Het |
| Lrrtm3 |
A |
G |
10: 63,924,799 (GRCm39) |
Y123H |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,220,802 (GRCm39) |
L999Q |
probably damaging |
Het |
| Myo6 |
T |
G |
9: 80,207,947 (GRCm39) |
Y1146* |
probably null |
Het |
| Nr3c1 |
C |
A |
18: 39,619,313 (GRCm39) |
G325W |
probably damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,434 (GRCm39) |
V173A |
probably benign |
Het |
| Or5p72 |
T |
A |
7: 108,021,806 (GRCm39) |
H9Q |
probably benign |
Het |
| Or7e170 |
T |
A |
9: 19,794,735 (GRCm39) |
I289F |
possibly damaging |
Het |
| Phf1 |
T |
C |
17: 27,153,344 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
T |
C |
8: 123,209,660 (GRCm39) |
T2349A |
probably benign |
Het |
| Pih1d1 |
T |
C |
7: 44,808,545 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,745,719 (GRCm39) |
S145P |
probably damaging |
Het |
| Prpf38b |
G |
T |
3: 108,811,261 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,521 (GRCm39) |
M545K |
probably benign |
Het |
| Safb |
T |
C |
17: 56,912,287 (GRCm39) |
Y802H |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,716 (GRCm39) |
M193L |
probably benign |
Het |
| Slc43a2 |
G |
A |
11: 75,459,263 (GRCm39) |
V432M |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,075 (GRCm39) |
R405G |
possibly damaging |
Het |
| Sv2c |
A |
G |
13: 96,125,606 (GRCm39) |
V377A |
probably damaging |
Het |
| Tbc1d15 |
C |
T |
10: 115,038,421 (GRCm39) |
M597I |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,492,175 (GRCm39) |
R1036S |
probably damaging |
Het |
| Tjp3 |
A |
G |
10: 81,119,522 (GRCm39) |
Y15H |
probably benign |
Het |
| Tkt |
A |
G |
14: 30,282,645 (GRCm39) |
|
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,519,447 (GRCm39) |
E145G |
probably damaging |
Het |
| Trib2 |
G |
A |
12: 15,859,932 (GRCm39) |
H110Y |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,224 (GRCm39) |
S342T |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,434,835 (GRCm39) |
E542G |
probably damaging |
Het |
| Usp36 |
T |
C |
11: 118,170,067 (GRCm39) |
D218G |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,846 (GRCm39) |
L1921P |
probably damaging |
Het |
| Zfp983 |
G |
T |
17: 21,877,924 (GRCm39) |
M42I |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation