Incidental Mutation 'R3800:Mccc1'
| ID |
272910 |
| 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 |
040759-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3800 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36054658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 17
(R17W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
[ENSMUST00000200162]
|
| AlphaFold |
Q99MR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029259
AA Change: R17W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: R17W
| 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: ENSMUST00000124469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198515
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199113
AA Change: R17W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143266
Gene: ENSMUSG00000027709
AA Change: R17W
| 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 |
unknown
Transcript: ENSMUST00000200162
AA Change: R17W
|
| SMART Domains |
Protein: ENSMUSP00000143396
Gene: ENSMUSG00000027709
AA Change: R17W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
95% (52/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,385,025 (GRCm39) |
D313E |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,305,046 (GRCm39) |
V2070I |
probably damaging |
Het |
| Adam23 |
C |
T |
1: 63,590,933 (GRCm39) |
R467* |
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,757,951 (GRCm39) |
|
probably benign |
Het |
| Aire |
A |
G |
10: 77,877,889 (GRCm39) |
|
probably null |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,180,031 (GRCm39) |
D268G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,732,633 (GRCm39) |
I351V |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,548,971 (GRCm39) |
R1138Q |
probably benign |
Het |
| Caskin1 |
T |
G |
17: 24,720,246 (GRCm39) |
V456G |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,643,611 (GRCm39) |
D539G |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,408,803 (GRCm39) |
I2425T |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,392,784 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,903,221 (GRCm39) |
G998* |
probably null |
Het |
| Cpe |
A |
G |
8: 65,070,651 (GRCm39) |
V198A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,344,887 (GRCm39) |
M364T |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,141,716 (GRCm39) |
N1396K |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,491 (GRCm39) |
K23E |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,423 (GRCm39) |
V3025E |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,187,894 (GRCm39) |
D1545V |
possibly damaging |
Het |
| Fbxw16 |
T |
G |
9: 109,265,665 (GRCm39) |
I385L |
probably damaging |
Het |
| Fnbp1 |
T |
C |
2: 30,923,143 (GRCm39) |
E341G |
probably damaging |
Het |
| Gm9845 |
T |
C |
3: 39,412,642 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,889,866 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Habp4 |
C |
T |
13: 64,321,917 (GRCm39) |
R185C |
probably damaging |
Het |
| Ift122 |
T |
A |
6: 115,902,867 (GRCm39) |
S1209T |
probably benign |
Het |
| Ino80c |
T |
C |
18: 24,254,752 (GRCm39) |
Y36C |
probably damaging |
Het |
| Inpp5b |
C |
T |
4: 124,679,138 (GRCm39) |
T515I |
probably damaging |
Het |
| Kcnj6 |
G |
A |
16: 94,633,886 (GRCm39) |
T75M |
probably damaging |
Het |
| Map2k4 |
A |
T |
11: 65,581,607 (GRCm39) |
Y368* |
probably null |
Het |
| Mbd6 |
A |
G |
10: 127,121,036 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
T |
C |
2: 165,901,639 (GRCm39) |
M1004T |
possibly damaging |
Het |
| Npnt |
C |
A |
3: 132,612,524 (GRCm39) |
G87V |
probably damaging |
Het |
| Or10a4 |
C |
T |
7: 106,696,938 (GRCm39) |
Q89* |
probably null |
Het |
| Or14j1 |
T |
G |
17: 38,146,848 (GRCm39) |
N319K |
probably benign |
Het |
| Ppp2r1a |
A |
T |
17: 21,182,972 (GRCm39) |
D552V |
possibly damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rnf34 |
A |
G |
5: 123,002,273 (GRCm39) |
H77R |
probably damaging |
Het |
| Samm50 |
T |
C |
15: 84,076,575 (GRCm39) |
V4A |
probably damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,695,904 (GRCm39) |
R403* |
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp6 |
A |
G |
9: 79,994,735 (GRCm39) |
R25G |
possibly damaging |
Het |
| Shc2 |
C |
T |
10: 79,462,707 (GRCm39) |
V272I |
probably benign |
Het |
| Smarcd3 |
T |
A |
5: 24,798,225 (GRCm39) |
K403* |
probably null |
Het |
| Srgap2 |
T |
A |
1: 131,238,297 (GRCm39) |
I672F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,582,941 (GRCm39) |
V22651I |
probably damaging |
Het |
| Ubash3a |
T |
C |
17: 31,450,444 (GRCm39) |
V373A |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,535,355 (GRCm39) |
K36E |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,738 (GRCm39) |
V726A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACGTATGCCATCTTCGGTTG -3'
(R):5'- AGACGCCTACTTGCTCTTCG -3'
Sequencing Primer
(F):5'- ATCTTCGGTTGCAGCACCG -3'
(R):5'- CTCTTCGGAGCTACGGTGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation