Incidental Mutation 'R5106:Mccc1'
| ID |
453042 |
| 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 |
042694-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5106 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36026713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 528
(D528V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
[ENSMUST00000200163]
|
| AlphaFold |
Q99MR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029259
AA Change: D528V
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: D528V
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200163
|
| SMART Domains |
Protein: ENSMUSP00000143039
Gene: ENSMUSG00000027709
| 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 |
0.9237 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1qtnf2 |
G |
A |
11: 43,376,880 (GRCm39) |
R84Q |
possibly damaging |
Het |
| Carmil2 |
T |
A |
8: 106,420,638 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,416,005 (GRCm39) |
C107S |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,991,982 (GRCm39) |
M191V |
probably benign |
Het |
| Cope |
C |
A |
8: 70,763,097 (GRCm39) |
R213S |
possibly damaging |
Het |
| Ctcf |
T |
C |
8: 106,408,130 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,783,489 (GRCm39) |
Y647C |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,091,894 (GRCm39) |
Y920H |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fdps |
C |
A |
3: 89,006,710 (GRCm39) |
R127L |
probably damaging |
Het |
| G6pd2 |
C |
T |
5: 61,967,695 (GRCm39) |
T490I |
probably benign |
Het |
| Gm6401 |
A |
G |
14: 41,787,463 (GRCm39) |
M121T |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,947,329 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,002,073 (GRCm39) |
S310G |
possibly damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,031,983 (GRCm39) |
F500L |
probably damaging |
Het |
| Lgr4 |
A |
T |
2: 109,827,940 (GRCm39) |
H207L |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,310 (GRCm39) |
M105V |
probably benign |
Het |
| Macroh2a1 |
A |
G |
13: 56,236,106 (GRCm39) |
V213A |
possibly damaging |
Het |
| Map2k3 |
A |
G |
11: 60,832,708 (GRCm39) |
K18E |
probably damaging |
Het |
| Nedd4l |
C |
T |
18: 65,326,376 (GRCm39) |
T568M |
probably damaging |
Het |
| Nr3c1 |
A |
C |
18: 39,619,654 (GRCm39) |
I211S |
possibly damaging |
Het |
| Nudt5 |
C |
T |
2: 5,859,640 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
T |
A |
7: 106,464,595 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5d46 |
T |
C |
2: 88,170,454 (GRCm39) |
Y182H |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,177 (GRCm39) |
S191T |
probably benign |
Het |
| Pcid2 |
A |
T |
8: 13,129,648 (GRCm39) |
F326I |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,237,278 (GRCm39) |
I1336N |
probably damaging |
Het |
| Pomk |
T |
C |
8: 26,476,404 (GRCm39) |
D50G |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,027 (GRCm39) |
T706A |
probably benign |
Het |
| Rad54l |
G |
A |
4: 115,956,961 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,572,459 (GRCm39) |
D36G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,904,416 (GRCm39) |
S166P |
possibly damaging |
Het |
| Rnf183 |
C |
G |
4: 62,346,465 (GRCm39) |
R111P |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,265,395 (GRCm39) |
D327V |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,951,411 (GRCm39) |
Y156C |
probably damaging |
Het |
| Slc25a54 |
G |
T |
3: 109,020,180 (GRCm39) |
C398F |
probably benign |
Het |
| Slc39a2 |
A |
G |
14: 52,132,988 (GRCm39) |
*310W |
probably null |
Het |
| Slit3 |
T |
C |
11: 35,503,194 (GRCm39) |
C464R |
probably damaging |
Het |
| Smu1 |
A |
T |
4: 40,743,104 (GRCm39) |
F345I |
possibly damaging |
Het |
| Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
| Stxbp3 |
T |
C |
3: 108,702,243 (GRCm39) |
Y521C |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,492,356 (GRCm39) |
S1061P |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,860,630 (GRCm39) |
S103P |
probably damaging |
Het |
| Tmem221 |
A |
G |
8: 72,008,522 (GRCm39) |
F173L |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,948,106 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,395 (GRCm39) |
|
probably null |
Het |
| Vmn2r38 |
C |
A |
7: 9,078,169 (GRCm39) |
V738L |
possibly damaging |
Het |
| Zfp160 |
T |
A |
17: 21,247,023 (GRCm39) |
H524Q |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,259 (GRCm39) |
K202* |
probably null |
Het |
| Zfp985 |
T |
A |
4: 147,668,612 (GRCm39) |
S493R |
probably damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,725,198 (GRCm39) |
|
probably benign |
Het |
| Zwilch |
A |
C |
9: 64,060,866 (GRCm39) |
F329V |
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 |
|
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 |
|
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'- TGATCCCATGGCCCTACTTG -3'
(R):5'- AGTCGCAGATACTCATCTTCCAG -3'
Sequencing Primer
(F):5'- ATGGCCCTACTTGAGCCAC -3'
(R):5'- CAGAGAAGCTGGGACTTCTC -3'
|
| Posted On |
2017-01-25 |
Incidental Mutation