Incidental Mutation 'IGL00432:Mmd'
ID |
6029 |
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 # |
IGL00432
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
90140282-90169415 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90155360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 101
(R101W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103519
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004050]
[ENSMUST00000107887]
|
AlphaFold |
Q9CQY7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004050
AA Change: R101W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004050 Gene: ENSMUSG00000003948 AA Change: R101W
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 damaging
Transcript: ENSMUST00000107887
AA Change: R101W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103519 Gene: ENSMUSG00000003948 AA Change: R101W
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
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
Other mutations in Mmd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-04-20 |