Incidental Mutation 'R5667:Lmbr1l'
ID |
501345 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmbr1l
|
Ensembl Gene |
ENSMUSG00000022999 |
Gene Name |
limb region 1 like |
Synonyms |
D15Ertd735e, 1110013E13Rik |
MMRRC Submission |
043310-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5667 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
98801798-98815944 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 98805489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 337
(D337E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023736]
[ENSMUST00000109127]
|
AlphaFold |
Q9D1E5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023736
AA Change: D337E
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023736 Gene: ENSMUSG00000022999 AA Change: D337E
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: ENSMUST00000123950
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127548
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231087
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
96% (54/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
Adamts16 |
A |
T |
13: 70,984,494 (GRCm39) |
Y56* |
probably null |
Het |
Ak2 |
T |
A |
4: 128,902,040 (GRCm39) |
F238I |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,266 (GRCm39) |
Y115C |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,673,753 (GRCm39) |
D3116G |
probably damaging |
Het |
Arhgap24 |
T |
G |
5: 102,994,037 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
A |
G |
10: 79,861,310 (GRCm39) |
E491G |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,714,994 (GRCm39) |
C86Y |
probably damaging |
Het |
Atxn1 |
T |
C |
13: 45,710,853 (GRCm39) |
K693R |
probably benign |
Het |
Bltp1 |
A |
T |
3: 36,971,826 (GRCm39) |
T520S |
probably benign |
Het |
Btbd10 |
T |
C |
7: 112,931,931 (GRCm39) |
K165R |
probably damaging |
Het |
Capn11 |
C |
T |
17: 45,950,600 (GRCm39) |
R293Q |
possibly damaging |
Het |
Chordc1 |
T |
G |
9: 18,206,628 (GRCm39) |
F33V |
probably damaging |
Het |
Clca4b |
G |
A |
3: 144,627,624 (GRCm39) |
T449I |
probably benign |
Het |
Clip4 |
A |
C |
17: 72,096,878 (GRCm39) |
M1L |
probably damaging |
Het |
Cyfip1 |
C |
T |
7: 55,523,478 (GRCm39) |
T90I |
probably benign |
Het |
Cyp4v3 |
G |
T |
8: 45,761,572 (GRCm39) |
T417K |
possibly damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,389,851 (GRCm39) |
I142T |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,890,843 (GRCm38) |
I575N |
probably benign |
Het |
Foxa1 |
A |
T |
12: 57,589,081 (GRCm39) |
S380T |
probably benign |
Het |
Foxi2 |
A |
T |
7: 135,012,668 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
A |
T |
10: 99,280,395 (GRCm39) |
|
noncoding transcript |
Het |
Gpa33 |
A |
G |
1: 165,974,360 (GRCm39) |
T66A |
possibly damaging |
Het |
Gpr45 |
A |
G |
1: 43,072,218 (GRCm39) |
Y287C |
probably damaging |
Het |
H2-Eb1 |
C |
A |
17: 34,533,229 (GRCm39) |
Y150* |
probably null |
Het |
Hsd17b8 |
T |
C |
17: 34,245,435 (GRCm39) |
D233G |
probably null |
Het |
Ifna6 |
A |
T |
4: 88,745,906 (GRCm39) |
Q85L |
probably damaging |
Het |
Ivns1abp |
G |
T |
1: 151,229,760 (GRCm39) |
L149F |
probably benign |
Het |
Kank4 |
A |
G |
4: 98,653,698 (GRCm39) |
|
probably null |
Het |
Katnip |
T |
A |
7: 125,442,627 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 27,066,540 (GRCm39) |
C1114S |
probably damaging |
Het |
Lrrn3 |
A |
C |
12: 41,502,297 (GRCm39) |
S673R |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,138,655 (GRCm39) |
D1404G |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,575,011 (GRCm39) |
T1199A |
probably benign |
Het |
Mycn |
A |
T |
12: 12,990,045 (GRCm39) |
M117K |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,532,818 (GRCm39) |
I1314T |
probably damaging |
Het |
Nod1 |
T |
C |
6: 54,910,561 (GRCm39) |
T869A |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,335,140 (GRCm39) |
V154A |
probably benign |
Het |
Or4k39 |
C |
T |
2: 111,238,818 (GRCm39) |
|
noncoding transcript |
Het |
Plekhg2 |
A |
T |
7: 28,067,064 (GRCm39) |
I356N |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,547,501 (GRCm39) |
Y112F |
possibly damaging |
Het |
Rpl36al |
G |
A |
12: 69,229,897 (GRCm39) |
P5L |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,774,722 (GRCm39) |
W1145R |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,942,742 (GRCm39) |
T413S |
possibly damaging |
Het |
Slc11a2 |
A |
G |
15: 100,301,169 (GRCm39) |
Y295H |
probably damaging |
Het |
Slc22a6 |
A |
G |
19: 8,599,148 (GRCm39) |
|
probably null |
Het |
Styxl1 |
A |
G |
5: 135,785,977 (GRCm39) |
|
probably null |
Het |
Tmc6 |
A |
G |
11: 117,666,441 (GRCm39) |
S288P |
possibly damaging |
Het |
Trpv4 |
A |
G |
5: 114,772,617 (GRCm39) |
L371P |
probably damaging |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,584,345 (GRCm39) |
D518G |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,405,892 (GRCm39) |
S463P |
probably damaging |
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 |
IGL02731:Lmbr1l
|
APN |
15 |
98,815,777 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGATATGTGGCTGCCCTG -3'
(R):5'- TGTTAGCCCACCTGAAGCAG -3'
Sequencing Primer
(F):5'- ATATGTGGCTGCCCTGGTCTC -3'
(R):5'- AGAAGGCTGGATGGTCCTGGTGTTC -3'
|
Posted On |
2017-12-01 |