Incidental Mutation 'IGL02731:Lmbr1l'
ID |
305455 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lmbr1l
|
Ensembl Gene |
ENSMUSG00000022999 |
Gene Name |
limb region 1 like |
Synonyms |
D15Ertd735e, 1110013E13Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02731
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
98801798-98815944 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98815777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 9
(L9P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023736]
[ENSMUST00000109127]
|
AlphaFold |
Q9D1E5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023736
AA Change: L9P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000023736 Gene: ENSMUSG00000022999 AA Change: L9P
Domain | Start | End | E-Value | Type |
Pfam:LMBR1
|
28 |
269 |
2e-41 |
PFAM |
Pfam:LMBR1
|
266 |
450 |
1.2e-35 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109127
|
SMART Domains |
Protein: ENSMUSP00000104755 Gene: ENSMUSG00000022999
Domain | Start | End | E-Value | Type |
Pfam:LMBR1
|
1 |
324 |
6.3e-110 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128818
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap10 |
A |
T |
11: 61,784,302 (GRCm39) |
D515E |
possibly damaging |
Het |
Ankrd13b |
A |
T |
11: 77,367,045 (GRCm39) |
S9R |
probably damaging |
Het |
Ano9 |
G |
A |
7: 140,687,117 (GRCm39) |
A374V |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cep78 |
T |
A |
19: 15,933,670 (GRCm39) |
H636L |
probably benign |
Het |
Chd2 |
A |
G |
7: 73,143,204 (GRCm39) |
V563A |
probably damaging |
Het |
Cndp1 |
G |
T |
18: 84,650,083 (GRCm39) |
D203E |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,947,323 (GRCm39) |
|
probably benign |
Het |
Copa |
T |
C |
1: 171,929,785 (GRCm39) |
V284A |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,976,188 (GRCm39) |
T1656A |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,369,434 (GRCm39) |
I89T |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,219,295 (GRCm39) |
S36P |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,532,615 (GRCm39) |
I1618F |
unknown |
Het |
Fan1 |
G |
A |
7: 64,022,741 (GRCm39) |
L171F |
possibly damaging |
Het |
Fancm |
A |
G |
12: 65,135,079 (GRCm39) |
T291A |
probably benign |
Het |
Gm14325 |
T |
C |
2: 177,474,779 (GRCm39) |
K101R |
probably damaging |
Het |
Hmx3 |
A |
T |
7: 131,145,692 (GRCm39) |
|
probably null |
Het |
Htt |
G |
T |
5: 34,961,137 (GRCm39) |
V255L |
probably benign |
Het |
L3mbtl3 |
C |
T |
10: 26,220,074 (GRCm39) |
|
probably null |
Het |
Lyzl6 |
A |
T |
11: 103,525,903 (GRCm39) |
Y72* |
probably null |
Het |
Mib1 |
A |
G |
18: 10,800,115 (GRCm39) |
E818G |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,050,715 (GRCm39) |
T6405A |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,114,578 (GRCm39) |
D482G |
probably benign |
Het |
Nuak2 |
C |
A |
1: 132,244,095 (GRCm39) |
A43E |
probably damaging |
Het |
Or10ag2 |
G |
A |
2: 87,249,051 (GRCm39) |
V220I |
probably benign |
Het |
Or4a70 |
T |
C |
2: 89,323,801 (GRCm39) |
Y285C |
probably damaging |
Het |
Or4f4b |
A |
T |
2: 111,313,873 (GRCm39) |
I33L |
probably benign |
Het |
Or5an1 |
T |
C |
19: 12,261,206 (GRCm39) |
S265P |
probably damaging |
Het |
Pde11a |
C |
A |
2: 75,821,583 (GRCm39) |
A899S |
probably benign |
Het |
Ppfibp2 |
A |
T |
7: 107,345,629 (GRCm39) |
I884F |
possibly damaging |
Het |
Pus7l |
A |
G |
15: 94,421,345 (GRCm39) |
V655A |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,506,897 (GRCm39) |
D273G |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,272,823 (GRCm39) |
D751G |
probably benign |
Het |
Sdk1 |
C |
T |
5: 142,158,299 (GRCm39) |
A1863V |
probably damaging |
Het |
Spns3 |
T |
C |
11: 72,420,403 (GRCm39) |
Y361C |
probably damaging |
Het |
Srp72 |
T |
A |
5: 77,142,062 (GRCm39) |
I372N |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tcf20 |
A |
G |
15: 82,737,438 (GRCm39) |
S1338P |
probably benign |
Het |
Tcte1 |
G |
A |
17: 45,850,812 (GRCm39) |
V363I |
probably benign |
Het |
Vmn1r42 |
T |
C |
6: 89,822,407 (GRCm39) |
K54R |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,917,274 (GRCm39) |
N3706S |
probably benign |
Het |
Vwde |
T |
C |
6: 13,192,613 (GRCm39) |
Y430C |
probably damaging |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
Zfp959 |
G |
A |
17: 56,202,956 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Lmbr1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02002:Lmbr1l
|
APN |
15 |
98,802,666 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02097:Lmbr1l
|
APN |
15 |
98,815,772 (GRCm39) |
missense |
probably damaging |
0.98 |
finch
|
UTSW |
15 |
98,807,267 (GRCm39) |
critical splice donor site |
probably null |
|
Gooseberry
|
UTSW |
15 |
98,810,308 (GRCm39) |
missense |
probably damaging |
0.99 |
junco
|
UTSW |
15 |
98,810,408 (GRCm39) |
missense |
probably damaging |
1.00 |
morula
|
UTSW |
15 |
98,802,672 (GRCm39) |
missense |
probably damaging |
1.00 |
munia
|
UTSW |
15 |
98,807,150 (GRCm39) |
critical splice acceptor site |
probably null |
|
strawberry
|
UTSW |
15 |
98,807,144 (GRCm39) |
nonsense |
probably null |
|
R0310:Lmbr1l
|
UTSW |
15 |
98,806,654 (GRCm39) |
splice site |
probably benign |
|
R1778:Lmbr1l
|
UTSW |
15 |
98,810,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2418:Lmbr1l
|
UTSW |
15 |
98,805,418 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2419:Lmbr1l
|
UTSW |
15 |
98,805,418 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4181:Lmbr1l
|
UTSW |
15 |
98,806,601 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4379:Lmbr1l
|
UTSW |
15 |
98,807,144 (GRCm39) |
nonsense |
probably null |
|
R4472:Lmbr1l
|
UTSW |
15 |
98,804,178 (GRCm39) |
missense |
probably benign |
0.02 |
R5290:Lmbr1l
|
UTSW |
15 |
98,810,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R5410:Lmbr1l
|
UTSW |
15 |
98,807,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Lmbr1l
|
UTSW |
15 |
98,802,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R5667:Lmbr1l
|
UTSW |
15 |
98,805,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5671:Lmbr1l
|
UTSW |
15 |
98,805,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5918:Lmbr1l
|
UTSW |
15 |
98,810,308 (GRCm39) |
missense |
probably damaging |
0.99 |
R6735:Lmbr1l
|
UTSW |
15 |
98,807,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R6882:Lmbr1l
|
UTSW |
15 |
98,805,467 (GRCm39) |
missense |
probably damaging |
0.99 |
R7131:Lmbr1l
|
UTSW |
15 |
98,804,204 (GRCm39) |
missense |
probably benign |
0.05 |
R7136:Lmbr1l
|
UTSW |
15 |
98,809,372 (GRCm39) |
splice site |
probably null |
|
R7169:Lmbr1l
|
UTSW |
15 |
98,807,075 (GRCm39) |
critical splice donor site |
probably benign |
|
R7169:Lmbr1l
|
UTSW |
15 |
98,807,039 (GRCm39) |
frame shift |
probably null |
|
R7336:Lmbr1l
|
UTSW |
15 |
98,811,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7541:Lmbr1l
|
UTSW |
15 |
98,807,267 (GRCm39) |
critical splice donor site |
probably null |
|
R7603:Lmbr1l
|
UTSW |
15 |
98,806,572 (GRCm39) |
nonsense |
probably null |
|
R7974:Lmbr1l
|
UTSW |
15 |
98,809,500 (GRCm39) |
missense |
probably benign |
0.03 |
R8354:Lmbr1l
|
UTSW |
15 |
98,810,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8454:Lmbr1l
|
UTSW |
15 |
98,810,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8504:Lmbr1l
|
UTSW |
15 |
98,810,065 (GRCm39) |
missense |
probably damaging |
0.97 |
R8933:Lmbr1l
|
UTSW |
15 |
98,807,150 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8974:Lmbr1l
|
UTSW |
15 |
98,810,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |