Incidental Mutation 'R0577:Macir'
| ID |
56254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macir
|
| Ensembl Gene |
ENSMUSG00000044768 |
| Gene Name |
macrophage immunometabolism regulator |
| Synonyms |
D1Ertd622e |
| MMRRC Submission |
038767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R0577 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
97571627-97589743 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 97589551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053033]
[ENSMUST00000053033]
[ENSMUST00000142234]
[ENSMUST00000149927]
[ENSMUST00000149927]
[ENSMUST00000153115]
|
| AlphaFold |
Q8VEB3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053033
|
| SMART Domains |
Protein: ENSMUSP00000051034
Gene: ENSMUSG00000044768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
2.3e-119 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000053033
|
| SMART Domains |
Protein: ENSMUSP00000051034
Gene: ENSMUSG00000044768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
2.3e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142234
|
| SMART Domains |
Protein: ENSMUSP00000137803
Gene: ENSMUSG00000044768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
134 |
1.1e-74 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000149927
|
| SMART Domains |
Protein: ENSMUSP00000121997
Gene: ENSMUSG00000044768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
8.7e-116 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000149927
|
| SMART Domains |
Protein: ENSMUSP00000121997
Gene: ENSMUSG00000044768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
8.7e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153115
|
| SMART Domains |
Protein: ENSMUSP00000138031
Gene: ENSMUSG00000044768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC119_bdg
|
3 |
201 |
2.3e-119 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
| Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
| Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
| Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
| Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
| Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
| Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
| Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
| Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
| Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCATTCGCACCAAGGCTCAG -3'
(R):5'- TCACAGCCATCCCCACAGAGTTTAG -3'
Sequencing Primer
(F):5'- GTGTCACCGAGCCATCAG -3'
(R):5'- ggaggaggcgggACTAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation