Incidental Mutation 'R9407:Mccc1'
| ID |
711577 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 36030865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 400
(H400Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
[ENSMUST00000200163]
|
| AlphaFold |
Q99MR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029259
AA Change: H400Q
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: H400Q
| 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 |
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: H180Q
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709
AA Change: H180Q
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
C |
14: 64,223,629 (GRCm39) |
Y49C |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,093,210 (GRCm39) |
L1021* |
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,574,229 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,372,345 (GRCm39) |
I505V |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,803,693 (GRCm39) |
D2159G |
possibly damaging |
Het |
| C1s2 |
T |
C |
6: 124,602,454 (GRCm39) |
I586V |
probably benign |
Het |
| Cd300e |
C |
A |
11: 114,946,171 (GRCm39) |
D97Y |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,723,596 (GRCm39) |
D2877G |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,655,841 (GRCm39) |
N328D |
probably benign |
Het |
| Cldn15 |
G |
A |
5: 137,003,765 (GRCm39) |
V227M |
probably damaging |
Het |
| Clec10a |
T |
G |
11: 70,060,155 (GRCm39) |
I98S |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,749,963 (GRCm39) |
Q89R |
probably damaging |
Het |
| Cryba2 |
C |
A |
1: 74,932,037 (GRCm39) |
A4S |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,442,613 (GRCm39) |
A3222T |
|
Het |
| Dapk1 |
C |
A |
13: 60,898,991 (GRCm39) |
Y820* |
probably null |
Het |
| Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
| Entrep3 |
C |
A |
3: 89,094,645 (GRCm39) |
A416D |
possibly damaging |
Het |
| Gar1 |
A |
G |
3: 129,620,608 (GRCm39) |
Y160H |
probably damaging |
Het |
| Gm21834 |
T |
A |
17: 58,048,863 (GRCm39) |
I118L |
probably benign |
Het |
| Gtf2a1l |
G |
A |
17: 89,001,531 (GRCm39) |
G129D |
probably damaging |
Het |
| Gzmb |
T |
A |
14: 56,497,712 (GRCm39) |
Y176F |
probably benign |
Het |
| Helz2 |
T |
G |
2: 180,881,975 (GRCm39) |
K273Q |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,555,234 (GRCm39) |
E816V |
probably damaging |
Het |
| Insr |
A |
C |
8: 3,235,106 (GRCm39) |
D694E |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,072 (GRCm39) |
R38Q |
probably damaging |
Het |
| Ipcef1 |
A |
T |
10: 6,870,036 (GRCm39) |
C172* |
probably null |
Het |
| Itgal |
T |
G |
7: 126,921,796 (GRCm39) |
|
probably null |
Het |
| Laptm5 |
A |
T |
4: 130,655,990 (GRCm39) |
M103L |
|
Het |
| Lypd4 |
A |
T |
7: 24,566,160 (GRCm39) |
C55S |
probably null |
Het |
| Myl4 |
C |
T |
11: 104,474,887 (GRCm39) |
R79W |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,596 (GRCm39) |
T569A |
probably benign |
Het |
| Or14a259 |
G |
C |
7: 86,013,194 (GRCm39) |
S117* |
probably null |
Het |
| Or4c117 |
T |
A |
2: 88,955,629 (GRCm39) |
T149S |
probably benign |
Het |
| Or5ak24 |
A |
G |
2: 85,261,060 (GRCm39) |
S38P |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,538,265 (GRCm39) |
D1153V |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,153,614 (GRCm39) |
D111V |
probably damaging |
Het |
| Pomt2 |
G |
T |
12: 87,157,146 (GRCm39) |
F724L |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,994,491 (GRCm39) |
Y1284F |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,034,224 (GRCm39) |
K301R |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,951,214 (GRCm39) |
R223* |
probably null |
Het |
| Slc35a1 |
A |
T |
4: 34,675,181 (GRCm39) |
V119E |
probably damaging |
Het |
| Slc6a11 |
A |
T |
6: 114,220,914 (GRCm39) |
I482F |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,583,128 (GRCm39) |
T419A |
probably damaging |
Het |
| Tgm1 |
A |
T |
14: 55,942,991 (GRCm39) |
C616* |
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,553,298 (GRCm39) |
I1125N |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,136,732 (GRCm39) |
D1251G |
probably damaging |
Het |
| Tnfaip2 |
C |
G |
12: 111,412,161 (GRCm39) |
S187R |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,644,045 (GRCm39) |
Y4469C |
probably damaging |
Het |
| Vmn1r229 |
G |
C |
17: 21,035,259 (GRCm39) |
C168S |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,124 (GRCm39) |
S179P |
probably damaging |
Het |
| Zfp474 |
A |
C |
18: 52,771,502 (GRCm39) |
I52L |
probably benign |
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 |
|
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 |
|
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'- AGCTGAATCCGGGTATGGTG -3'
(R):5'- ACCTTCACCATAGGTCTGTTCG -3'
Sequencing Primer
(F):5'- CAAGACAGGGTTTCTCTGTATAGCC -3'
(R):5'- CGCCGGTTTTTAACATGCAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation