Incidental Mutation 'IGL01486:Macir'
| ID |
88754 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Macir
|
| Ensembl Gene |
ENSMUSG00000044768 |
| Gene Name |
macrophage immunometabolism regulator |
| Synonyms |
D1Ertd622e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
IGL01486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
97571627-97589743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97573731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 111
(S111R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053033]
[ENSMUST00000142234]
[ENSMUST00000149927]
[ENSMUST00000153115]
|
| AlphaFold |
Q8VEB3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053033
AA Change: S111R
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051034
Gene: ENSMUSG00000044768
AA Change: S111R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
2.3e-119 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142234
AA Change: S111R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137803
Gene: ENSMUSG00000044768
AA Change: S111R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
134 |
1.1e-74 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149927
AA Change: S111R
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121997
Gene: ENSMUSG00000044768
AA Change: S111R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
8.7e-116 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153115
AA Change: S111R
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138031
Gene: ENSMUSG00000044768
AA Change: S111R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
2.3e-119 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx3 |
G |
T |
3: 107,512,139 (GRCm39) |
C259F |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,409,123 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,421,513 (GRCm39) |
I733V |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,552,890 (GRCm39) |
|
probably null |
Het |
| Ckm |
G |
A |
7: 19,155,156 (GRCm39) |
G262S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,941 (GRCm39) |
S443R |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,405,733 (GRCm39) |
A481S |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,226,633 (GRCm39) |
V203M |
probably damaging |
Het |
| Kdelr3 |
T |
A |
15: 79,407,048 (GRCm39) |
V43D |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,453,113 (GRCm39) |
K235E |
probably benign |
Het |
| Mapk1 |
A |
T |
16: 16,836,144 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,243,478 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,786,331 (GRCm39) |
T625A |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,113,388 (GRCm39) |
S287G |
probably benign |
Het |
| Smap2 |
A |
T |
4: 120,830,395 (GRCm39) |
F247I |
probably damaging |
Het |
| Spata4 |
T |
C |
8: 55,055,341 (GRCm39) |
|
probably benign |
Het |
| Tff2 |
T |
G |
17: 31,361,316 (GRCm39) |
E79A |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,471,079 (GRCm39) |
C513Y |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,031,634 (GRCm39) |
S925P |
possibly damaging |
Het |
| Xrcc4 |
C |
A |
13: 90,210,151 (GRCm39) |
E98* |
probably null |
Het |
| Ypel3 |
A |
G |
7: 126,377,033 (GRCm39) |
T38A |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,304,547 (GRCm39) |
G1146R |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,713,307 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Macir |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02349:Macir
|
APN |
1 |
97,573,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0577:Macir
|
UTSW |
1 |
97,589,551 (GRCm39) |
splice site |
probably null |
|
|
R1646:Macir
|
UTSW |
1 |
97,573,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3611:Macir
|
UTSW |
1 |
97,574,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Macir
|
UTSW |
1 |
97,573,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Macir
|
UTSW |
1 |
97,573,655 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6863:Macir
|
UTSW |
1 |
97,574,030 (GRCm39) |
missense |
probably benign |
|
|
R7133:Macir
|
UTSW |
1 |
97,573,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7911:Macir
|
UTSW |
1 |
97,573,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8384:Macir
|
UTSW |
1 |
97,573,655 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2013-11-18 |
Incidental Mutation