Incidental Mutation 'IGL01300:Mmd'
| ID |
75232 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmd
|
| Ensembl Gene |
ENSMUSG00000003948 |
| Gene Name |
monocyte to macrophage differentiation-associated |
| Synonyms |
1200017E07Rik, Paqr11, 1810073C06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL01300
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
90140282-90169415 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 90140537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004050]
[ENSMUST00000107887]
[ENSMUST00000124877]
[ENSMUST00000134929]
[ENSMUST00000153734]
|
| AlphaFold |
Q9CQY7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004050
AA Change: M1T
|
| SMART Domains |
Protein: ENSMUSP00000004050
Gene: ENSMUSG00000003948
AA Change: M1T
| 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 null
Transcript: ENSMUST00000107887
AA Change: M1T
|
| SMART Domains |
Protein: ENSMUSP00000103519
Gene: ENSMUSG00000003948
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Pfam:HlyIII
|
23 |
179 |
8.8e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211334
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa8 |
A |
G |
14: 33,821,700 (GRCm39) |
D300G |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,324,738 (GRCm39) |
H1161R |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,331,372 (GRCm39) |
R1471Q |
unknown |
Het |
| Gm14496 |
A |
T |
2: 181,642,753 (GRCm39) |
E808V |
probably damaging |
Het |
| Gm1968 |
T |
C |
16: 29,781,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmb |
G |
A |
14: 56,497,653 (GRCm39) |
R196C |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,231,040 (GRCm39) |
|
probably benign |
Het |
| Itgal |
T |
A |
7: 126,913,290 (GRCm39) |
V629E |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,083 (GRCm39) |
Y1050N |
probably damaging |
Het |
| Lrrc69 |
C |
T |
4: 14,773,663 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,200,548 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,667,755 (GRCm39) |
N485S |
probably damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,714 (GRCm39) |
T214M |
probably damaging |
Het |
| Ncoa3 |
A |
T |
2: 165,910,381 (GRCm39) |
T1265S |
probably benign |
Het |
| Or10al2 |
C |
A |
17: 37,983,778 (GRCm39) |
T288K |
probably damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,054 (GRCm39) |
S89P |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,327 (GRCm39) |
C138R |
possibly damaging |
Het |
| Prom2 |
A |
T |
2: 127,377,009 (GRCm39) |
L535H |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,734,174 (GRCm39) |
F327L |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,977,809 (GRCm39) |
M1479T |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,318,397 (GRCm39) |
Q1465* |
probably null |
Het |
| Serpinb3b |
A |
G |
1: 107,083,573 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,099,253 (GRCm39) |
Q339* |
probably null |
Het |
| Slc34a2 |
A |
C |
5: 53,225,469 (GRCm39) |
|
probably null |
Het |
| Smc3 |
T |
A |
19: 53,630,283 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
A |
G |
9: 79,682,382 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
T |
8: 47,954,903 (GRCm39) |
D878E |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,741,628 (GRCm39) |
T1325M |
probably damaging |
Het |
| Ttc12 |
A |
T |
9: 49,359,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,337 (GRCm39) |
I20N |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,414 (GRCm39) |
Y311H |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,740,263 (GRCm39) |
F189I |
possibly 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 |
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation