Incidental Mutation 'R6627:Maco1'
| ID |
524852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maco1
|
| Ensembl Gene |
ENSMUSG00000028826 |
| Gene Name |
macoilin 1 |
| Synonyms |
Tmem57, 9230118A01Rik, 1110007C24Rik, C61 |
| MMRRC Submission |
044749-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.729)
|
| Stock # |
R6627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134530070-134580656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134563654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 110
(V110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030628]
[ENSMUST00000137707]
[ENSMUST00000148595]
|
| AlphaFold |
Q7TQE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030628
AA Change: V110A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030628
Gene: ENSMUSG00000028826
AA Change: V110A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Macoilin
|
2 |
662 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136113
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137707
AA Change: V110A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124477
Gene: ENSMUSG00000028826
AA Change: V110A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Macoilin
|
2 |
157 |
2.1e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148595
|
| SMART Domains |
Protein: ENSMUSP00000125440
Gene: ENSMUSG00000028826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Macoilin
|
2 |
78 |
7e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
T |
C |
18: 12,395,221 (GRCm39) |
N224S |
probably benign |
Het |
| Ccdc162 |
A |
G |
10: 41,539,181 (GRCm39) |
S396P |
probably damaging |
Het |
| Cd9 |
A |
G |
6: 125,439,375 (GRCm39) |
L119P |
possibly damaging |
Het |
| Cdk17 |
A |
C |
10: 93,068,274 (GRCm39) |
T311P |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,127,172 (GRCm39) |
D511G |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,908,607 (GRCm39) |
V286A |
possibly damaging |
Het |
| Cyp2j13 |
G |
A |
4: 95,947,343 (GRCm39) |
T236I |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,800,748 (GRCm39) |
V301A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,907,097 (GRCm39) |
I4209F |
probably damaging |
Het |
| E2f5 |
G |
A |
3: 14,668,917 (GRCm39) |
E270K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,784,647 (GRCm39) |
|
probably null |
Het |
| Esp24 |
C |
T |
17: 39,350,952 (GRCm39) |
Q51* |
probably null |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,709,753 (GRCm39) |
Q435K |
probably benign |
Het |
| Gpr17 |
T |
C |
18: 32,080,949 (GRCm39) |
Y38C |
probably damaging |
Het |
| Lfng |
T |
C |
5: 140,593,523 (GRCm39) |
V118A |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,362,427 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
T |
G |
11: 67,105,835 (GRCm39) |
L1150R |
probably damaging |
Het |
| Plod3 |
T |
G |
5: 137,017,310 (GRCm39) |
I111S |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,746,970 (GRCm39) |
V66D |
probably damaging |
Het |
| Simc1 |
T |
G |
13: 54,694,887 (GRCm39) |
L323V |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,199 (GRCm39) |
I223T |
possibly damaging |
Het |
| Tmem203 |
T |
C |
2: 25,145,785 (GRCm39) |
|
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,553 (GRCm39) |
D284G |
probably damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,581 (GRCm39) |
R61H |
possibly damaging |
Het |
|
| Other mutations in Maco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00793:Maco1
|
APN |
4 |
134,555,517 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01062:Maco1
|
APN |
4 |
134,560,608 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02249:Maco1
|
APN |
4 |
134,555,623 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02850:Maco1
|
APN |
4 |
134,555,697 (GRCm39) |
missense |
probably benign |
0.12 |
|
subtle
|
UTSW |
4 |
134,555,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Maco1
|
UTSW |
4 |
134,555,427 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0548:Maco1
|
UTSW |
4 |
134,533,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Maco1
|
UTSW |
4 |
134,555,528 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1536:Maco1
|
UTSW |
4 |
134,531,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Maco1
|
UTSW |
4 |
134,555,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2151:Maco1
|
UTSW |
4 |
134,538,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2509:Maco1
|
UTSW |
4 |
134,531,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Maco1
|
UTSW |
4 |
134,531,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Maco1
|
UTSW |
4 |
134,531,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Maco1
|
UTSW |
4 |
134,557,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3946:Maco1
|
UTSW |
4 |
134,531,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Maco1
|
UTSW |
4 |
134,555,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Maco1
|
UTSW |
4 |
134,555,444 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5169:Maco1
|
UTSW |
4 |
134,555,774 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5310:Maco1
|
UTSW |
4 |
134,564,330 (GRCm39) |
intron |
probably benign |
|
|
R5443:Maco1
|
UTSW |
4 |
134,560,619 (GRCm39) |
nonsense |
probably null |
|
|
R5554:Maco1
|
UTSW |
4 |
134,555,445 (GRCm39) |
missense |
probably benign |
|
|
R5712:Maco1
|
UTSW |
4 |
134,555,369 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7100:Maco1
|
UTSW |
4 |
134,533,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Maco1
|
UTSW |
4 |
134,555,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8059:Maco1
|
UTSW |
4 |
134,555,359 (GRCm39) |
nonsense |
probably null |
|
|
R8300:Maco1
|
UTSW |
4 |
134,555,762 (GRCm39) |
missense |
probably benign |
|
|
R9246:Maco1
|
UTSW |
4 |
134,565,242 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9786:Maco1
|
UTSW |
4 |
134,557,993 (GRCm39) |
nonsense |
probably null |
|
|
X0062:Maco1
|
UTSW |
4 |
134,563,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCATGCATGCAAGCGAG -3'
(R):5'- GCAAGCTTATAACCACTGCTTCC -3'
Sequencing Primer
(F):5'- GCCAGGCCTACATAGTGAGTTAC -3'
(R):5'- CTGTCTTTAGGCCTTCTCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation