Incidental Mutation 'R7236:Mccc1'
| ID |
562805 |
| 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 |
045306-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36037944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 294
(V294A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
[ENSMUST00000200162]
[ENSMUST00000200163]
|
| AlphaFold |
Q99MR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029259
AA Change: V294A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: V294A
| 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 |
probably benign
Transcript: ENSMUST00000200162
|
| SMART Domains |
Protein: ENSMUSP00000143396
Gene: ENSMUSG00000027709
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200163
AA Change: V74A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709
AA Change: V74A
| 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 |
|
| Meta Mutation Damage Score |
0.3403 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
T |
19: 4,921,644 (GRCm39) |
V179I |
probably benign |
Het |
| Adra1b |
A |
G |
11: 43,667,151 (GRCm39) |
I362T |
possibly damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,950 (GRCm39) |
K104E |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,474,101 (GRCm39) |
Y15C |
probably benign |
Het |
| C2cd2l |
C |
A |
9: 44,228,960 (GRCm39) |
A124S |
possibly damaging |
Het |
| Camsap3 |
T |
A |
8: 3,654,116 (GRCm39) |
F595L |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,897,464 (GRCm39) |
D93E |
probably benign |
Het |
| Cd200l2 |
A |
T |
16: 45,348,030 (GRCm39) |
I169N |
possibly damaging |
Het |
| Cemip |
A |
T |
7: 83,598,012 (GRCm39) |
|
probably null |
Het |
| Ciapin1 |
T |
C |
8: 95,550,338 (GRCm39) |
T34A |
|
Het |
| Dop1a |
G |
A |
9: 86,397,431 (GRCm39) |
V912I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,790,093 (GRCm39) |
Q2832L |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,151,495 (GRCm39) |
T610A |
possibly damaging |
Het |
| Ephb3 |
A |
G |
16: 21,033,231 (GRCm39) |
R106G |
probably damaging |
Het |
| Ephx3 |
T |
A |
17: 32,404,328 (GRCm39) |
|
probably null |
Het |
| Etv2 |
A |
T |
7: 30,334,455 (GRCm39) |
S93T |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,767,841 (GRCm39) |
D451E |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,504,140 (GRCm39) |
F141L |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,265,821 (GRCm39) |
K500R |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,828,884 (GRCm39) |
D170G |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,458,897 (GRCm39) |
N34S |
possibly damaging |
Het |
| Golga5 |
T |
A |
12: 102,441,034 (GRCm39) |
|
probably null |
Het |
| Herc2 |
G |
T |
7: 55,734,828 (GRCm39) |
L139F |
probably benign |
Het |
| Ikzf2 |
T |
A |
1: 69,578,240 (GRCm39) |
N423I |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,660,439 (GRCm39) |
*717R |
probably null |
Het |
| Itga2 |
G |
T |
13: 115,014,227 (GRCm39) |
Q234K |
probably benign |
Het |
| Kcnt1 |
A |
T |
2: 25,799,951 (GRCm39) |
|
probably null |
Het |
| Kif19b |
G |
T |
5: 140,457,400 (GRCm39) |
A390S |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,018,653 (GRCm39) |
S69G |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,911,754 (GRCm39) |
I259K |
possibly damaging |
Het |
| Mrpl15 |
A |
T |
1: 4,846,711 (GRCm39) |
N288K |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,400,965 (GRCm39) |
W116R |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,963,932 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
T |
16: 34,742,899 (GRCm39) |
D1137V |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,401,512 (GRCm39) |
K879E |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,533 (GRCm39) |
C162* |
probably null |
Het |
| Pak6 |
A |
G |
2: 118,523,909 (GRCm39) |
T355A |
probably benign |
Het |
| Patj |
C |
T |
4: 98,299,294 (GRCm39) |
R139C |
probably damaging |
Het |
| Pcdhb3 |
C |
T |
18: 37,434,505 (GRCm39) |
A157V |
probably damaging |
Het |
| Phkg1 |
C |
A |
5: 129,895,802 (GRCm39) |
D150Y |
probably damaging |
Het |
| Ppp2r5c |
C |
T |
12: 110,432,323 (GRCm39) |
S45L |
probably benign |
Het |
| Prl4a1 |
A |
C |
13: 28,202,556 (GRCm39) |
T44P |
probably benign |
Het |
| Ptpro |
G |
A |
6: 137,345,335 (GRCm39) |
V114M |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,715,147 (GRCm39) |
N211S |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,282,747 (GRCm39) |
D504G |
probably benign |
Het |
| Rock2 |
A |
T |
12: 16,979,003 (GRCm39) |
I98F |
probably damaging |
Het |
| Senp6 |
G |
T |
9: 80,040,247 (GRCm39) |
V785L |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,672,609 (GRCm39) |
D319G |
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,663,723 (GRCm39) |
I235N |
probably damaging |
Het |
| Tas2r110 |
A |
T |
6: 132,845,667 (GRCm39) |
M233L |
possibly damaging |
Het |
| Tmem260 |
C |
T |
14: 48,746,647 (GRCm39) |
|
probably null |
Het |
| Trank1 |
G |
T |
9: 111,202,142 (GRCm39) |
V1590L |
possibly damaging |
Het |
| Tsc2 |
A |
T |
17: 24,842,568 (GRCm39) |
M286K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,697,796 (GRCm39) |
T202A |
|
Het |
| Ttyh1 |
A |
G |
7: 4,136,663 (GRCm39) |
N424D |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,263,502 (GRCm39) |
|
probably null |
Het |
| Utp20 |
G |
T |
10: 88,585,204 (GRCm39) |
P2620Q |
probably benign |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,133 (GRCm39) |
M279T |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,576 (GRCm39) |
I683K |
probably benign |
Het |
| Vmn2r34 |
T |
C |
7: 7,684,750 (GRCm39) |
K481E |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,917 (GRCm39) |
H339L |
possibly damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,811 (GRCm39) |
N200I |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 101,984,074 (GRCm39) |
Y3493H |
probably damaging |
Het |
| Wdr5b |
A |
G |
16: 35,862,208 (GRCm39) |
D109G |
possibly damaging |
Het |
| Zfp286 |
A |
T |
11: 62,674,496 (GRCm39) |
|
probably null |
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 |
|
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'- AAGCACTGGTTAGGAAAATGCTTG -3'
(R):5'- GGTTCTGAGGTTCCTAGTTAACTAG -3'
Sequencing Primer
(F):5'- TGGTCAAAACATCGAGGG -3'
(R):5'- AAGATGCATCAGATTCCCTTGGG -3'
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| Posted On |
2019-06-26 |
Incidental Mutation