Incidental Mutation 'R3035:Mbl1'
| ID |
264826 |
| 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 |
040551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3035 (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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,575,762 (GRCm39) |
V687D |
probably benign |
Het |
| Ahctf1 |
T |
A |
1: 179,581,435 (GRCm39) |
Q1589L |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,389,540 (GRCm39) |
S479P |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,866,762 (GRCm39) |
K203E |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,520,559 (GRCm39) |
S433P |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,249 (GRCm39) |
S1181P |
possibly damaging |
Het |
| Gsc2 |
A |
G |
16: 17,732,792 (GRCm39) |
S26P |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,730,963 (GRCm39) |
S57P |
unknown |
Het |
| Herc1 |
C |
A |
9: 66,391,217 (GRCm39) |
Q4007K |
possibly damaging |
Het |
| Ighv1-54 |
C |
A |
12: 115,157,597 (GRCm39) |
V17F |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,218,942 (GRCm39) |
E312V |
possibly damaging |
Het |
| Kdf1 |
A |
G |
4: 133,255,373 (GRCm39) |
N30S |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,395,501 (GRCm39) |
S587T |
possibly damaging |
Het |
| Mgam |
A |
G |
6: 40,640,464 (GRCm39) |
I511V |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Serpinb9b |
T |
A |
13: 33,213,529 (GRCm39) |
C29S |
possibly damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,822,178 (GRCm39) |
L343I |
probably benign |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTCAAGAAGTGGCCACAG -3'
(R):5'- TTTGCTCTGTGCTCAACCAGAC -3'
Sequencing Primer
(F):5'- AAGGGCAGTTCATGTACG -3'
(R):5'- GGTGCCTCATGGTCAGCTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation