Incidental Mutation 'R6735:Lmbr1l'
ID |
530202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmbr1l
|
Ensembl Gene |
ENSMUSG00000022999 |
Gene Name |
limb region 1 like |
Synonyms |
D15Ertd735e, 1110013E13Rik |
MMRRC Submission |
044853-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6735 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
98801798-98815944 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 98807121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 220
(M220K)
|
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: M220K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000023736 Gene: ENSMUSG00000022999 AA Change: M220K
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: ENSMUST00000128818
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231087
|
Meta Mutation Damage Score |
0.8910 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (47/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
A |
G |
4: 148,026,274 (GRCm39) |
T265A |
probably benign |
Het |
Adap1 |
A |
T |
5: 139,278,900 (GRCm39) |
Y127N |
probably damaging |
Het |
Alg8 |
T |
C |
7: 97,032,189 (GRCm39) |
F246S |
probably benign |
Het |
Alpk1 |
A |
G |
3: 127,518,098 (GRCm39) |
Y68H |
probably damaging |
Het |
Arhgef5 |
T |
C |
6: 43,251,966 (GRCm39) |
S906P |
probably benign |
Het |
C9 |
A |
T |
15: 6,519,387 (GRCm39) |
D408V |
probably benign |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Cpeb4 |
T |
A |
11: 31,874,700 (GRCm39) |
Y174N |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,683,351 (GRCm39) |
Y289H |
probably damaging |
Het |
Erbin |
A |
T |
13: 104,020,718 (GRCm39) |
D80E |
probably damaging |
Het |
Fgd6 |
A |
T |
10: 93,910,182 (GRCm39) |
E829V |
possibly damaging |
Het |
Foxn2 |
T |
G |
17: 88,794,223 (GRCm39) |
S387A |
probably benign |
Het |
Hapstr1 |
T |
A |
16: 8,673,764 (GRCm39) |
H230Q |
probably benign |
Het |
Irag2 |
T |
C |
6: 145,106,619 (GRCm39) |
L201S |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
Lhx6 |
T |
G |
2: 35,981,390 (GRCm39) |
D67A |
probably damaging |
Het |
Macroh2a2 |
A |
G |
10: 61,577,046 (GRCm39) |
I274T |
probably damaging |
Het |
Naa35 |
T |
C |
13: 59,773,378 (GRCm39) |
L111P |
probably damaging |
Het |
Notch2 |
T |
A |
3: 98,041,902 (GRCm39) |
V1307E |
probably damaging |
Het |
Nts |
T |
A |
10: 102,320,859 (GRCm39) |
M77L |
probably benign |
Het |
Or5m11b |
A |
C |
2: 85,805,778 (GRCm39) |
S64R |
possibly damaging |
Het |
Pigz |
A |
G |
16: 31,764,361 (GRCm39) |
N473S |
probably benign |
Het |
Pkd2 |
A |
G |
5: 104,628,195 (GRCm39) |
D423G |
probably damaging |
Het |
Plac8 |
A |
G |
5: 100,710,485 (GRCm39) |
|
probably null |
Het |
Ppp2r2b |
T |
C |
18: 42,821,653 (GRCm39) |
|
probably null |
Het |
Proc |
T |
C |
18: 32,256,701 (GRCm39) |
N322S |
probably benign |
Het |
Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,573,398 (GRCm39) |
|
probably null |
Het |
Safb |
A |
G |
17: 56,892,169 (GRCm39) |
|
probably benign |
Het |
Scnn1g |
A |
G |
7: 121,341,486 (GRCm39) |
D216G |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,215,048 (GRCm39) |
E345G |
possibly damaging |
Het |
Sult2a5 |
A |
T |
7: 13,398,983 (GRCm39) |
K197* |
probably null |
Het |
Suv39h1 |
C |
A |
X: 7,929,138 (GRCm39) |
R397L |
probably damaging |
Homo |
Thbs4 |
T |
A |
13: 92,891,674 (GRCm39) |
M814L |
possibly damaging |
Het |
Tmem14a |
T |
A |
1: 21,299,805 (GRCm39) |
|
probably benign |
Het |
Tmprss11d |
C |
A |
5: 86,457,159 (GRCm39) |
A167S |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,629,252 (GRCm39) |
C14362F |
probably damaging |
Het |
Usp15 |
T |
C |
10: 123,004,272 (GRCm39) |
I161V |
possibly damaging |
Het |
Vmn1r67 |
T |
C |
7: 10,181,138 (GRCm39) |
L134P |
probably damaging |
Het |
Wdr74 |
A |
G |
19: 8,713,586 (GRCm39) |
E73G |
possibly damaging |
Het |
Zbtb49 |
A |
T |
5: 38,358,402 (GRCm39) |
M617K |
possibly damaging |
Het |
Zc3h3 |
G |
A |
15: 75,628,483 (GRCm39) |
T937I |
probably benign |
Het |
Zeb2 |
C |
T |
2: 45,000,028 (GRCm39) |
V25M |
probably null |
Het |
Zfp108 |
T |
C |
7: 23,961,197 (GRCm39) |
F596S |
probably damaging |
Het |
Zfyve1 |
T |
A |
12: 83,641,618 (GRCm39) |
N13Y |
possibly damaging |
Het |
Zswim2 |
T |
C |
2: 83,754,105 (GRCm39) |
D185G |
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 |
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 |
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 |
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'- TGTGTTCTGACCAACTCCAG -3'
(R):5'- GCAAGACAAGTTGACATGGC -3'
Sequencing Primer
(F):5'- GTGTTCTGACCAACTCCAGATGATG -3'
(R):5'- AGACTTCTGGGAGTACTACCTC -3'
|
Posted On |
2018-08-01 |