Incidental Mutation 'IGL01910:Mbl1'
| ID |
179793 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mbl1
|
| Ensembl Gene |
ENSMUSG00000037780 |
| Gene Name |
mannose-binding lectin (protein A) 1 |
| Synonyms |
MBP-A, MBL-A |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
40873415-40881558 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 40875703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047095]
[ENSMUST00000225792]
|
| AlphaFold |
P39039 |
| Predicted Effect |
silent
Transcript: ENSMUST00000047095
|
| SMART Domains |
Protein: ENSMUSP00000048765
Gene: ENSMUSG00000037780
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
35 |
91 |
2.8e-10 |
PFAM |
|
CLECT
|
105 |
236 |
2.22e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225779
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225792
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation does not result in overt abnormalities. However mutant mice have shown increased survival in a mouse model of acute septic peritonitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
A |
G |
18: 31,904,995 (GRCm39) |
M79V |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,563,644 (GRCm39) |
V205E |
probably benign |
Het |
| BC061237 |
T |
C |
14: 44,743,445 (GRCm39) |
|
probably benign |
Het |
| Calr |
T |
A |
8: 85,571,598 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,096 (GRCm39) |
N1942S |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,386,606 (GRCm39) |
D373G |
probably damaging |
Het |
| Chst9 |
C |
A |
18: 15,585,931 (GRCm39) |
A211S |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,879,056 (GRCm39) |
E478G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,511,602 (GRCm39) |
V387D |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,643 (GRCm39) |
I161V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hmx2 |
C |
T |
7: 131,157,401 (GRCm39) |
R172C |
probably damaging |
Het |
| Itgam |
C |
T |
7: 127,682,948 (GRCm39) |
A320V |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,138,485 (GRCm39) |
N361K |
probably benign |
Het |
| Nudt9 |
G |
A |
5: 104,202,175 (GRCm39) |
G79R |
probably damaging |
Het |
| Ppan |
C |
T |
9: 20,802,232 (GRCm39) |
R208C |
probably damaging |
Het |
| Rpl23a-ps1 |
A |
G |
1: 46,020,940 (GRCm39) |
|
noncoding transcript |
Het |
| Slc17a1 |
A |
G |
13: 24,062,440 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,569 (GRCm39) |
T1269A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,951 (GRCm39) |
N275Y |
probably damaging |
Het |
| Wdr93 |
T |
C |
7: 79,421,321 (GRCm39) |
S405P |
probably damaging |
Het |
| Xcl1 |
T |
A |
1: 164,759,458 (GRCm39) |
I81F |
probably damaging |
Het |
|
| Other mutations in Mbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02108:Mbl1
|
APN |
14 |
40,875,608 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02171:Mbl1
|
APN |
14 |
40,876,455 (GRCm39) |
splice site |
probably benign |
|
|
IGL03167:Mbl1
|
APN |
14 |
40,880,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0110:Mbl1
|
UTSW |
14 |
40,880,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Mbl1
|
UTSW |
14 |
40,880,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Mbl1
|
UTSW |
14 |
40,880,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0519:Mbl1
|
UTSW |
14 |
40,880,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2138:Mbl1
|
UTSW |
14 |
40,875,648 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3034:Mbl1
|
UTSW |
14 |
40,880,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3035:Mbl1
|
UTSW |
14 |
40,880,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3036:Mbl1
|
UTSW |
14 |
40,880,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Mbl1
|
UTSW |
14 |
40,876,515 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5044:Mbl1
|
UTSW |
14 |
40,880,681 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5347:Mbl1
|
UTSW |
14 |
40,880,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Mbl1
|
UTSW |
14 |
40,879,153 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6199:Mbl1
|
UTSW |
14 |
40,875,572 (GRCm39) |
missense |
unknown |
|
|
R6700:Mbl1
|
UTSW |
14 |
40,880,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7193:Mbl1
|
UTSW |
14 |
40,880,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Mbl1
|
UTSW |
14 |
40,875,555 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation