Incidental Mutation 'R0052:Mmd'
| ID |
15290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmd
|
| Ensembl Gene |
ENSMUSG00000003948 |
| Gene Name |
monocyte to macrophage differentiation-associated |
| Synonyms |
1200017E07Rik, Paqr11, 1810073C06Rik |
| MMRRC Submission |
038346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R0052 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
90140282-90169415 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 90150824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004050]
[ENSMUST00000107887]
|
| AlphaFold |
Q9CQY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004050
|
| SMART Domains |
Protein: ENSMUSP00000004050
Gene: ENSMUSG00000003948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Pfam:HlyIII
|
24 |
220 |
9.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107887
|
| SMART Domains |
Protein: ENSMUSP00000103519
Gene: ENSMUSG00000003948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Pfam:HlyIII
|
23 |
179 |
8.8e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211334
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 78.2%
- 10x: 46.7%
- 20x: 12.5%
|
| Validation Efficiency |
90% (62/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba1 |
T |
C |
19: 23,893,315 (GRCm39) |
S438P |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
| Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,985 (GRCm39) |
D357G |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
| Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,655,070 (GRCm39) |
E57D |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
| Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
| Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
| Rmdn2 |
A |
G |
17: 79,957,760 (GRCm39) |
E16G |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
| Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
| St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
| Tdo2 |
T |
A |
3: 81,874,332 (GRCm39) |
N210I |
probably benign |
Het |
| Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
| Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,850 (GRCm39) |
F74S |
possibly damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,235 (GRCm39) |
N123S |
possibly damaging |
Het |
| Usp12 |
A |
G |
5: 146,675,914 (GRCm39) |
V336A |
possibly damaging |
Het |
| Xrn2 |
T |
A |
2: 146,882,885 (GRCm39) |
|
probably benign |
Het |
| Zfp14 |
G |
T |
7: 29,737,753 (GRCm39) |
Q411K |
probably damaging |
Het |
|
| Other mutations in Mmd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Mmd
|
APN |
11 |
90,155,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01300:Mmd
|
APN |
11 |
90,140,537 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL03412:Mmd
|
APN |
11 |
90,148,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0052:Mmd
|
UTSW |
11 |
90,150,824 (GRCm39) |
splice site |
probably benign |
|
|
R1342:Mmd
|
UTSW |
11 |
90,167,676 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3084:Mmd
|
UTSW |
11 |
90,156,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Mmd
|
UTSW |
11 |
90,148,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Mmd
|
UTSW |
11 |
90,158,325 (GRCm39) |
splice site |
probably null |
|
|
R7626:Mmd
|
UTSW |
11 |
90,148,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7638:Mmd
|
UTSW |
11 |
90,167,583 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7734:Mmd
|
UTSW |
11 |
90,167,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Mmd
|
UTSW |
11 |
90,158,433 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9697:Mmd
|
UTSW |
11 |
90,167,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mmd
|
UTSW |
11 |
90,150,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-17 |
Incidental Mutation