Incidental Mutation 'R3611:Macir'
| ID |
269217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macir
|
| Ensembl Gene |
ENSMUSG00000044768 |
| Gene Name |
macrophage immunometabolism regulator |
| Synonyms |
D1Ertd622e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R3611 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
97571627-97589743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97574059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 2
(E2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053033]
[ENSMUST00000142234]
[ENSMUST00000149927]
[ENSMUST00000153115]
|
| AlphaFold |
Q8VEB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053033
AA Change: E2G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051034
Gene: ENSMUSG00000044768
AA Change: E2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
2.3e-119 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142234
AA Change: E2G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137803
Gene: ENSMUSG00000044768
AA Change: E2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
134 |
1.1e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149927
AA Change: E2G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121997
Gene: ENSMUSG00000044768
AA Change: E2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
8.7e-116 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153115
AA Change: E2G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138031
Gene: ENSMUSG00000044768
AA Change: E2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
2.3e-119 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
G |
A |
6: 92,846,965 (GRCm39) |
T521M |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,974,427 (GRCm39) |
K345R |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,066,972 (GRCm39) |
W53R |
probably benign |
Het |
| Brd1 |
A |
G |
15: 88,585,147 (GRCm39) |
S896P |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,252,973 (GRCm39) |
S281P |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,675,116 (GRCm39) |
D601G |
probably damaging |
Het |
| Cntn3 |
C |
A |
6: 102,185,038 (GRCm39) |
V693L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,408 (GRCm39) |
V855A |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,202,895 (GRCm39) |
M60V |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,085,591 (GRCm39) |
|
probably benign |
Het |
| Gnpda2 |
A |
G |
5: 69,734,752 (GRCm39) |
S268P |
probably benign |
Het |
| Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,733,763 (GRCm39) |
|
probably benign |
Het |
| Lsg1 |
A |
G |
16: 30,380,613 (GRCm39) |
V608A |
probably benign |
Het |
| Mmrn2 |
G |
A |
14: 34,120,632 (GRCm39) |
V501M |
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,013 (GRCm39) |
C65Y |
probably benign |
Het |
| Ppa2 |
A |
G |
3: 133,053,867 (GRCm39) |
T186A |
probably benign |
Het |
| Rims4 |
T |
A |
2: 163,721,126 (GRCm39) |
I42F |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,705,197 (GRCm39) |
E700D |
probably benign |
Het |
| Skor2 |
T |
C |
18: 76,946,533 (GRCm39) |
V85A |
unknown |
Het |
| Srbd1 |
T |
C |
17: 86,410,355 (GRCm39) |
T526A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
| Ubtfl1 |
T |
C |
9: 18,320,661 (GRCm39) |
I63T |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,268 (GRCm39) |
K270R |
possibly damaging |
Het |
| Zfp750 |
G |
A |
11: 121,402,981 (GRCm39) |
P589L |
probably benign |
Het |
| Zfr |
G |
A |
15: 12,159,848 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Macir |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Macir
|
APN |
1 |
97,573,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGTCCATGTGGAGGATCTG -3'
(R):5'- ATTGAGCTGCCTGTGCGTTC -3'
Sequencing Primer
(F):5'- TCCATGTGGAGGATCTGATAACC -3'
(R):5'- GATGGCAGCGCTCATTTGTTACC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation