Incidental Mutation 'IGL01701:Lman1'
| ID |
104476 |
| 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: 0.811)
|
| Stock # |
IGL01701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
66113810-66135706 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66127921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 241
(V241E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048260]
[ENSMUST00000120461]
[ENSMUST00000143990]
|
| AlphaFold |
Q9D0F3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048260
AA Change: V241E
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040140
Gene: ENSMUSG00000041891
AA Change: V241E
| 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 |
possibly damaging
Transcript: ENSMUST00000120461
AA Change: V241E
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113326
Gene: ENSMUSG00000041891
AA Change: V241E
| 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 |
possibly damaging
Transcript: ENSMUST00000143990
AA Change: V225E
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116433
Gene: ENSMUSG00000041891
AA Change: V225E
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,254,776 (GRCm39) |
Y36H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,567,750 (GRCm39) |
D5141G |
possibly damaging |
Het |
| Adk |
G |
A |
14: 21,153,922 (GRCm39) |
E42K |
probably damaging |
Het |
| Akap1 |
C |
A |
11: 88,735,958 (GRCm39) |
V268L |
probably benign |
Het |
| Arl6ip5 |
A |
G |
6: 97,187,774 (GRCm39) |
|
probably benign |
Het |
| Atrx |
A |
G |
X: 104,874,526 (GRCm39) |
S1945P |
probably damaging |
Het |
| Clec5a |
G |
A |
6: 40,559,160 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,232,741 (GRCm39) |
|
probably benign |
Het |
| Cul3 |
G |
T |
1: 80,255,140 (GRCm39) |
H6Q |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,669,012 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,240 (GRCm39) |
V452F |
probably benign |
Het |
| Furin |
T |
A |
7: 80,040,507 (GRCm39) |
D777V |
probably benign |
Het |
| Gm57859 |
T |
C |
11: 113,579,927 (GRCm39) |
F441L |
probably benign |
Het |
| Hmgb4 |
G |
A |
4: 128,154,166 (GRCm39) |
T134I |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,895 (GRCm39) |
E349V |
possibly damaging |
Het |
| Igkv6-23 |
A |
T |
6: 70,237,880 (GRCm39) |
L13Q |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,425 (GRCm39) |
Y54F |
probably damaging |
Het |
| Mat1a |
T |
A |
14: 40,836,772 (GRCm39) |
D167E |
probably benign |
Het |
| Myl6 |
G |
A |
10: 128,327,966 (GRCm39) |
A130V |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,791,877 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
A |
T |
13: 65,347,223 (GRCm39) |
W12R |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,669 (GRCm39) |
R276G |
probably benign |
Het |
| Or4f61 |
T |
C |
2: 111,922,851 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or5m13b |
C |
A |
2: 85,754,421 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Pag1 |
C |
T |
3: 9,758,886 (GRCm39) |
E411K |
probably damaging |
Het |
| Prorp |
T |
G |
12: 55,355,660 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,082,339 (GRCm39) |
N1422D |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,235 (GRCm39) |
R3345Q |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,361,280 (GRCm39) |
L85P |
probably damaging |
Het |
| Slc22a17 |
T |
C |
14: 55,144,718 (GRCm39) |
H565R |
probably damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,108 (GRCm39) |
T245A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,358,665 (GRCm39) |
H33R |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,847,318 (GRCm39) |
V1260A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,461 (GRCm39) |
F236Y |
probably damaging |
Het |
| Trim30b |
A |
C |
7: 104,015,258 (GRCm39) |
Y43* |
probably null |
Het |
| Trpc3 |
T |
C |
3: 36,725,743 (GRCm39) |
K78E |
possibly damaging |
Het |
| Twist2 |
A |
T |
1: 91,729,736 (GRCm39) |
M130L |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,377,804 (GRCm39) |
Y342F |
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 |
|
IGL03331:Lman1
|
APN |
18 |
66,126,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-01-21 |
Incidental Mutation