Incidental Mutation 'R2038:Lman1'
| ID |
225370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lman1
|
| Ensembl Gene |
ENSMUSG00000041891 |
| Gene Name |
lectin, mannose-binding, 1 |
| Synonyms |
P58, ERGIC53, MCFD1, F5F8D, gp58, MR60, 2610020P13Rik |
| MMRRC Submission |
040045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.823)
|
| Stock # |
R2038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
66113810-66135706 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66131681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 101
(T101A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048260]
[ENSMUST00000120461]
[ENSMUST00000143990]
|
| AlphaFold |
Q9D0F3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048260
AA Change: T117A
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040140
Gene: ENSMUSG00000041891
AA Change: T117A
| 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: T117A
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113326
Gene: ENSMUSG00000041891
AA Change: T117A
| 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: T101A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116433
Gene: ENSMUSG00000041891
AA Change: T101A
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,389,762 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adgrf4 |
A |
T |
17: 42,978,754 (GRCm39) |
H196Q |
probably damaging |
Het |
| Astn1 |
T |
G |
1: 158,484,690 (GRCm39) |
S918A |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,598,782 (GRCm39) |
K110N |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,633,114 (GRCm39) |
Q105* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,775 (GRCm39) |
G168R |
probably damaging |
Het |
| Col8a2 |
T |
C |
4: 126,205,108 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
G |
A |
2: 166,875,675 (GRCm39) |
E669K |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,977,255 (GRCm39) |
I2898F |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,775,294 (GRCm39) |
Y274H |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,967,226 (GRCm39) |
S4073P |
probably damaging |
Het |
| Dynlrb2 |
G |
A |
8: 117,241,549 (GRCm39) |
R31Q |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,351,868 (GRCm39) |
L1119Q |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,430,317 (GRCm39) |
K212E |
probably benign |
Het |
| H60b |
A |
T |
10: 22,162,114 (GRCm39) |
N113I |
probably benign |
Het |
| Hace1 |
A |
C |
10: 45,576,721 (GRCm39) |
K798Q |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,696,151 (GRCm39) |
R631H |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,190,928 (GRCm39) |
I153F |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,110,893 (GRCm39) |
C245* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,431 (GRCm39) |
W969R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,135,853 (GRCm39) |
D26V |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,265,016 (GRCm39) |
V53A |
probably benign |
Het |
| Msl2 |
C |
A |
9: 100,979,183 (GRCm39) |
A519D |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,245,503 (GRCm39) |
S176G |
probably benign |
Het |
| Ninl |
T |
A |
2: 150,817,763 (GRCm39) |
K134* |
probably null |
Het |
| Or10d1 |
A |
G |
9: 39,484,283 (GRCm39) |
S91P |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,239 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4a68 |
C |
A |
2: 89,269,689 (GRCm39) |
M311I |
probably benign |
Het |
| Pabpn1 |
T |
G |
14: 55,134,609 (GRCm39) |
I250S |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,539 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,025 (GRCm39) |
S316P |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,567,780 (GRCm39) |
W271C |
probably damaging |
Het |
| Set |
T |
C |
2: 29,960,212 (GRCm39) |
S182P |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,620,618 (GRCm39) |
T321A |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,295 (GRCm39) |
H29L |
unknown |
Het |
| Slc33a1 |
A |
G |
3: 63,855,577 (GRCm39) |
L356P |
probably damaging |
Het |
| Sptbn1 |
C |
G |
11: 30,109,293 (GRCm39) |
|
probably null |
Het |
| Srrd |
C |
T |
5: 112,486,316 (GRCm39) |
G179D |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,456 (GRCm39) |
S312P |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,093,794 (GRCm39) |
L566* |
probably null |
Het |
| Tln2 |
T |
A |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,163,497 (GRCm39) |
F702L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,637 (GRCm39) |
G419R |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,884,887 (GRCm39) |
S3187G |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,907,685 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
C |
7: 118,411,097 (GRCm39) |
F677L |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,688,507 (GRCm39) |
E23V |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTCCACGTATCAGCTGATC -3'
(R):5'- AATCTGTCTCAGTAGCTGTGTGTAG -3'
Sequencing Primer
(F):5'- GTATCAGCTGATCCAAACACAGGG -3'
(R):5'- CAGTAGCTGTGTGTAGCCATTCAAAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation