Incidental Mutation 'R5168:Mccc1'
| ID |
397381 |
| 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 |
042748-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36013461-36054827 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 36044929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 71
(W71*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029259]
[ENSMUST00000199113]
[ENSMUST00000200162]
[ENSMUST00000200163]
|
| AlphaFold |
Q99MR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029259
AA Change: M132I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029259
Gene: ENSMUSG00000027709
AA Change: M132I
| 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 |
probably benign
Transcript: ENSMUST00000199113
AA Change: M132I
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000143266
Gene: ENSMUSG00000027709
AA Change: M132I
| 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 null
Transcript: ENSMUST00000200162
AA Change: W71*
|
| SMART Domains |
Protein: ENSMUSP00000143396
Gene: ENSMUSG00000027709
AA Change: W71*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (47/49) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,086,070 (GRCm39) |
N478D |
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,966,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,088,561 (GRCm39) |
C116S |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,671 (GRCm39) |
L785P |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,708,610 (GRCm39) |
N192S |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,047,667 (GRCm39) |
L1414H |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,190,816 (GRCm39) |
I849F |
possibly damaging |
Het |
| Col6a3 |
C |
T |
1: 90,701,361 (GRCm39) |
W2518* |
probably null |
Het |
| Cxcl15 |
T |
A |
5: 90,943,142 (GRCm39) |
I48K |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,365,924 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,755,097 (GRCm39) |
E82G |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,720,637 (GRCm39) |
W1249R |
probably damaging |
Het |
| Fras1 |
A |
C |
5: 96,856,616 (GRCm39) |
M2000L |
probably benign |
Het |
| Gpr31b |
A |
T |
17: 13,270,326 (GRCm39) |
I281N |
probably damaging |
Het |
| Gvin3 |
T |
C |
7: 106,196,054 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
T |
C |
7: 30,357,136 (GRCm39) |
T432A |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 53,952,459 (GRCm39) |
S925P |
probably damaging |
Het |
| Katnal1 |
A |
G |
5: 148,858,132 (GRCm39) |
M26T |
possibly damaging |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,407,481 (GRCm39) |
V397D |
probably damaging |
Het |
| Nt5dc1 |
T |
A |
10: 34,273,236 (GRCm39) |
E187D |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
| Or51f23 |
C |
T |
7: 102,453,528 (GRCm39) |
A281V |
probably benign |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,768 (GRCm39) |
V451A |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,804,817 (GRCm39) |
V493A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,767,207 (GRCm39) |
T1228A |
probably benign |
Het |
| Slc26a3 |
G |
A |
12: 31,518,553 (GRCm39) |
V674I |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,488 (GRCm39) |
V223I |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tacr3 |
T |
C |
3: 134,535,320 (GRCm39) |
I96T |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,197,139 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,824,088 (GRCm39) |
N254K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,651 (GRCm39) |
L99Q |
probably damaging |
Het |
| Trav6-5 |
A |
T |
14: 53,728,973 (GRCm39) |
N78Y |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,248,997 (GRCm39) |
Q807* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,531 (GRCm39) |
T110A |
probably benign |
Het |
| Vcl |
C |
T |
14: 21,060,170 (GRCm39) |
T603I |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,276,195 (GRCm39) |
T243S |
probably damaging |
Het |
| Vps8 |
A |
C |
16: 21,351,849 (GRCm39) |
I323L |
probably benign |
Het |
| Zfp746 |
G |
C |
6: 48,041,329 (GRCm39) |
Q465E |
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 |
|
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 |
|
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'- CTTGGCTTGCACGAACGTAC -3'
(R):5'- GAGATTTTCCTGGTGTAAAACAGGC -3'
Sequencing Primer
(F):5'- GCACGAACGTACACAAATAATAATAC -3'
(R):5'- TCCTGGTGTAAAACAGGCTTCAAAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation