Incidental Mutation 'IGL03331:Lman1'
ID |
416880 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lman1
|
Ensembl Gene |
ENSMUSG00000041891 |
Gene Name |
lectin, mannose-binding, 1 |
Synonyms |
P58, ERGIC53, MCFD1, F5F8D, gp58, MR60, 2610020P13Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.823)
|
Stock # |
IGL03331
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
66113810-66135706 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66126275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 284
(T284A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048260]
[ENSMUST00000120461]
[ENSMUST00000143990]
|
AlphaFold |
Q9D0F3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048260
AA Change: T284A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000040140 Gene: ENSMUSG00000041891 AA Change: T284A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Lectin_leg-like
|
52 |
277 |
2.2e-95 |
PFAM |
low complexity region
|
291 |
307 |
N/A |
INTRINSIC |
transmembrane domain
|
483 |
505 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120461
AA Change: T284A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000113326 Gene: ENSMUSG00000041891 AA Change: T284A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Lectin_leg-like
|
52 |
277 |
2.2e-95 |
PFAM |
low complexity region
|
291 |
307 |
N/A |
INTRINSIC |
transmembrane domain
|
483 |
505 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143990
AA Change: T268A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116433 Gene: ENSMUSG00000041891 AA Change: T268A
Domain | Start | End | E-Value | Type |
Pfam:Lectin_leg-like
|
47 |
261 |
7.5e-86 |
PFAM |
low complexity region
|
275 |
286 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155895
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015] PHENOTYPE: Mice homozygous for a gene trap allele exhibit strain dependent postnatal lethality and slightly dilated endoplasmic reticulum in hepatocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
C |
A |
14: 78,751,305 (GRCm39) |
D361Y |
probably damaging |
Het |
Arhgap10 |
T |
C |
8: 78,146,711 (GRCm39) |
N231S |
probably damaging |
Het |
Asb15 |
A |
T |
6: 24,556,523 (GRCm39) |
D6V |
possibly damaging |
Het |
C1qb |
G |
A |
4: 136,607,604 (GRCm39) |
A253V |
probably damaging |
Het |
Ccdc178 |
G |
T |
18: 21,944,640 (GRCm39) |
|
probably null |
Het |
Chst15 |
A |
G |
7: 131,864,442 (GRCm39) |
L387P |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,533,724 (GRCm39) |
E550D |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,420,086 (GRCm39) |
K3795E |
probably damaging |
Het |
Dppa2 |
T |
C |
16: 48,134,242 (GRCm39) |
|
probably benign |
Het |
Epb41l5 |
T |
C |
1: 119,545,149 (GRCm39) |
Y220C |
probably damaging |
Het |
Fkbpl |
C |
T |
17: 34,864,661 (GRCm39) |
T143I |
probably damaging |
Het |
Gbe1 |
T |
G |
16: 70,230,466 (GRCm39) |
Y155D |
probably damaging |
Het |
Gm1979 |
T |
C |
5: 26,207,008 (GRCm39) |
K69R |
probably damaging |
Het |
Gna14 |
G |
A |
19: 16,586,832 (GRCm39) |
V336M |
probably damaging |
Het |
Gpr37 |
A |
G |
6: 25,669,728 (GRCm39) |
V372A |
probably benign |
Het |
H2bc12 |
T |
C |
13: 22,220,443 (GRCm39) |
|
probably benign |
Het |
Herc2 |
C |
A |
7: 55,785,015 (GRCm39) |
|
probably benign |
Het |
Krt20 |
T |
C |
11: 99,326,256 (GRCm39) |
|
probably null |
Het |
Matn2 |
A |
T |
15: 34,345,503 (GRCm39) |
D170V |
probably damaging |
Het |
Morc1 |
C |
A |
16: 48,432,731 (GRCm39) |
|
probably benign |
Het |
Necap1 |
T |
A |
6: 122,857,376 (GRCm39) |
S34T |
probably benign |
Het |
Nt5c3b |
T |
C |
11: 100,327,041 (GRCm39) |
Y85C |
probably damaging |
Het |
Or2t6 |
C |
A |
14: 14,176,017 (GRCm38) |
A22S |
probably benign |
Het |
Or5b102 |
T |
A |
19: 13,041,231 (GRCm39) |
L152H |
probably damaging |
Het |
Papln |
A |
G |
12: 83,830,435 (GRCm39) |
M1016V |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,139,994 (GRCm39) |
F605L |
probably damaging |
Het |
Rbms2 |
T |
A |
10: 127,969,504 (GRCm39) |
|
probably benign |
Het |
Rps6kb1 |
A |
T |
11: 86,423,656 (GRCm39) |
V108E |
probably damaging |
Het |
Scap |
T |
C |
9: 110,209,304 (GRCm39) |
|
probably null |
Het |
Serpina1f |
T |
C |
12: 103,657,150 (GRCm39) |
I307M |
probably benign |
Het |
Tchh |
A |
G |
3: 93,350,725 (GRCm39) |
D55G |
probably damaging |
Het |
Tnfaip3 |
G |
T |
10: 18,887,349 (GRCm39) |
Q59K |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,810,051 (GRCm39) |
C2287R |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,445,428 (GRCm39) |
N766D |
probably damaging |
Het |
|
Other mutations in Lman1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00644:Lman1
|
APN |
18 |
66,130,693 (GRCm39) |
nonsense |
probably null |
|
IGL01098:Lman1
|
APN |
18 |
66,124,711 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Lman1
|
APN |
18 |
66,124,681 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01701:Lman1
|
APN |
18 |
66,127,921 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1101:Lman1
|
UTSW |
18 |
66,120,969 (GRCm39) |
missense |
probably benign |
0.00 |
R1434:Lman1
|
UTSW |
18 |
66,126,144 (GRCm39) |
critical splice donor site |
probably null |
|
R1785:Lman1
|
UTSW |
18 |
66,124,653 (GRCm39) |
missense |
probably damaging |
0.99 |
R1786:Lman1
|
UTSW |
18 |
66,124,653 (GRCm39) |
missense |
probably damaging |
0.99 |
R1794:Lman1
|
UTSW |
18 |
66,124,755 (GRCm39) |
missense |
probably benign |
0.21 |
R2038:Lman1
|
UTSW |
18 |
66,131,681 (GRCm39) |
missense |
probably benign |
0.30 |
R2060:Lman1
|
UTSW |
18 |
66,131,423 (GRCm39) |
intron |
probably benign |
|
R2940:Lman1
|
UTSW |
18 |
66,117,344 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4125:Lman1
|
UTSW |
18 |
66,120,932 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4471:Lman1
|
UTSW |
18 |
66,124,797 (GRCm39) |
unclassified |
probably benign |
|
R4751:Lman1
|
UTSW |
18 |
66,131,505 (GRCm39) |
missense |
probably benign |
0.06 |
R7021:Lman1
|
UTSW |
18 |
66,124,714 (GRCm39) |
missense |
probably benign |
0.02 |
R7199:Lman1
|
UTSW |
18 |
66,127,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |