Incidental Mutation 'R3036:Mbl1'
| ID |
263375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbl1
|
| Ensembl Gene |
ENSMUSG00000037780 |
| Gene Name |
mannose-binding lectin (protein A) 1 |
| Synonyms |
MBP-A, MBL-A |
| MMRRC Submission |
040552-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3036 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
40873415-40881558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 40880790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 226
(S226Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047095]
[ENSMUST00000225792]
|
| AlphaFold |
P39039 |
| Predicted Effect |
probably benign
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 |
probably damaging
Transcript: ENSMUST00000225792
AA Change: S226Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg10 |
A |
G |
13: 91,189,017 (GRCm39) |
S98P |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,697,182 (GRCm39) |
Y189H |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,561,258 (GRCm39) |
I143V |
possibly damaging |
Het |
| Gpr108 |
A |
G |
17: 57,552,323 (GRCm39) |
V90A |
probably benign |
Het |
| Kcnk18 |
T |
A |
19: 59,223,494 (GRCm39) |
V213D |
probably benign |
Het |
| Ly6f |
T |
C |
15: 75,140,636 (GRCm39) |
C20R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,750,013 (GRCm39) |
C4399R |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,346,059 (GRCm39) |
T274A |
probably benign |
Het |
| Nol11 |
A |
G |
11: 107,064,070 (GRCm39) |
S561P |
possibly damaging |
Het |
| Pbld2 |
T |
C |
10: 62,907,225 (GRCm39) |
S155P |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Sumf1 |
G |
A |
6: 108,130,152 (GRCm39) |
A214V |
possibly damaging |
Het |
| Teddm1a |
A |
G |
1: 153,767,656 (GRCm39) |
Y40C |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,966,167 (GRCm39) |
G496S |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,730,960 (GRCm39) |
|
probably benign |
Het |
| Uty |
G |
A |
Y: 1,099,671 (GRCm39) |
R1112* |
probably null |
Het |
|
| Other mutations in Mbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01910:Mbl1
|
APN |
14 |
40,875,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTCAAGAAGTGGCCACAG -3'
(R):5'- TGCTCTGTGCTCAACCAGAC -3'
Sequencing Primer
(F):5'- AAGGGCAGTTCATGTACG -3'
(R):5'- GGTGCCTCATGGTCAGCTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation