Incidental Mutation 'IGL01784:Lman1l'
| ID |
154244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lman1l
|
| Ensembl Gene |
ENSMUSG00000056271 |
| Gene Name |
lectin, mannose-binding 1 like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01784
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57607085-57620774 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57620564 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 36
(Y36C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044937]
[ENSMUST00000093832]
|
| AlphaFold |
Q8VCD3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044937
AA Change: Y36C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041631
Gene: ENSMUSG00000056271
AA Change: Y36C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Lectin_leg-like
|
32 |
256 |
1.2e-53 |
PFAM |
|
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
|
coiled coil region
|
316 |
337 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093832
AA Change: Y36C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091352
Gene: ENSMUSG00000056271
AA Change: Y36C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Lectin_leg-like
|
32 |
256 |
2.7e-53 |
PFAM |
|
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
|
coiled coil region
|
316 |
337 |
N/A |
INTRINSIC |
|
transmembrane domain
|
439 |
461 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found in leguminous plants. This lectin is thought to transport newly synthesized glycoproteins from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,880,619 (GRCm38) |
P309L |
possibly damaging |
Het |
| Abca4 |
A |
T |
3: 122,138,505 (GRCm38) |
K269N |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,890,664 (GRCm38) |
T839A |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 88,314,123 (GRCm38) |
D30G |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,921,217 (GRCm38) |
I149T |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,493,739 (GRCm38) |
D199G |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,631,788 (GRCm38) |
|
probably benign |
Het |
| Ensa |
T |
A |
3: 95,628,533 (GRCm38) |
|
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,631,778 (GRCm38) |
I405V |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,879,687 (GRCm38) |
L568M |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,502,428 (GRCm38) |
D128G |
unknown |
Het |
| Fra10ac1 |
T |
A |
19: 38,219,677 (GRCm38) |
H43L |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,146,027 (GRCm38) |
|
noncoding transcript |
Het |
| Gsx1 |
A |
G |
5: 147,190,129 (GRCm38) |
D254G |
probably benign |
Het |
| Hoxb6 |
A |
G |
11: 96,300,813 (GRCm38) |
E187G |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,313,526 (GRCm38) |
I2385N |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,249,370 (GRCm38) |
C171S |
probably benign |
Het |
| Mccc1 |
T |
G |
3: 35,976,748 (GRCm38) |
N390H |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,265,310 (GRCm38) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,406,148 (GRCm38) |
D364G |
possibly damaging |
Het |
| Niban1 |
T |
A |
1: 151,649,365 (GRCm38) |
Y174N |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,829,334 (GRCm38) |
|
probably benign |
Het |
| Or6c8 |
C |
T |
10: 129,079,355 (GRCm38) |
V203M |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,344,922 (GRCm38) |
S75P |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 105,378,957 (GRCm38) |
A685S |
probably damaging |
Het |
| Pramel51 |
A |
G |
12: 88,176,315 (GRCm38) |
Y178H |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,886,552 (GRCm38) |
T539A |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,731,806 (GRCm38) |
S537T |
possibly damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,270,461 (GRCm38) |
T597I |
possibly damaging |
Het |
| Rtn4 |
C |
A |
11: 29,707,291 (GRCm38) |
Q482K |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 31,222,967 (GRCm38) |
I349T |
probably damaging |
Het |
| Sh3gl1 |
A |
C |
17: 56,019,325 (GRCm38) |
S108A |
possibly damaging |
Het |
| Tmc7 |
A |
T |
7: 118,547,315 (GRCm38) |
|
probably null |
Het |
| Tmem131 |
G |
A |
1: 36,815,483 (GRCm38) |
T131I |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 110,671,168 (GRCm38) |
L505P |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 133,192,128 (GRCm38) |
Q231R |
unknown |
Het |
| Wnt7a |
A |
G |
6: 91,365,857 (GRCm38) |
C348R |
probably damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,814,721 (GRCm38) |
L86Q |
probably damaging |
Het |
|
| Other mutations in Lman1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03164:Lman1l
|
APN |
9 |
57,609,995 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03226:Lman1l
|
APN |
9 |
57,610,007 (GRCm38) |
missense |
probably benign |
0.43 |
|
PIT4283001:Lman1l
|
UTSW |
9 |
57,616,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0555:Lman1l
|
UTSW |
9 |
57,614,101 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1168:Lman1l
|
UTSW |
9 |
57,608,312 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1169:Lman1l
|
UTSW |
9 |
57,609,995 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1591:Lman1l
|
UTSW |
9 |
57,615,802 (GRCm38) |
missense |
probably benign |
0.30 |
|
R2289:Lman1l
|
UTSW |
9 |
57,613,658 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3848:Lman1l
|
UTSW |
9 |
57,608,317 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R4685:Lman1l
|
UTSW |
9 |
57,609,200 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5170:Lman1l
|
UTSW |
9 |
57,615,619 (GRCm38) |
nonsense |
probably null |
|
|
R5309:Lman1l
|
UTSW |
9 |
57,611,077 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5312:Lman1l
|
UTSW |
9 |
57,611,077 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5639:Lman1l
|
UTSW |
9 |
57,611,866 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5655:Lman1l
|
UTSW |
9 |
57,615,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5905:Lman1l
|
UTSW |
9 |
57,608,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6011:Lman1l
|
UTSW |
9 |
57,615,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6028:Lman1l
|
UTSW |
9 |
57,608,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6035:Lman1l
|
UTSW |
9 |
57,611,747 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6035:Lman1l
|
UTSW |
9 |
57,611,747 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6250:Lman1l
|
UTSW |
9 |
57,615,624 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6488:Lman1l
|
UTSW |
9 |
57,620,643 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R6489:Lman1l
|
UTSW |
9 |
57,613,726 (GRCm38) |
splice site |
probably null |
|
|
R6720:Lman1l
|
UTSW |
9 |
57,614,072 (GRCm38) |
splice site |
probably null |
|
|
R7000:Lman1l
|
UTSW |
9 |
57,615,948 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7139:Lman1l
|
UTSW |
9 |
57,615,596 (GRCm38) |
missense |
probably benign |
0.37 |
|
R8822:Lman1l
|
UTSW |
9 |
57,607,188 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9800:Lman1l
|
UTSW |
9 |
57,615,777 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0057:Lman1l
|
UTSW |
9 |
57,615,957 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation