Incidental Mutation 'R7603:Lmbr1l'
| ID |
588135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmbr1l
|
| Ensembl Gene |
ENSMUSG00000022999 |
| Gene Name |
limb region 1 like |
| Synonyms |
D15Ertd735e, 1110013E13Rik |
| MMRRC Submission |
045713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7603 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
98801798-98815944 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 98806572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 280
(Q280*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023736]
|
| AlphaFold |
Q9D1E5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023736
AA Change: Q280*
|
| SMART Domains |
Protein: ENSMUSP00000023736
Gene: ENSMUSG00000022999
AA Change: Q280*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
28 |
269 |
2e-41 |
PFAM |
|
Pfam:LMBR1
|
266 |
450 |
1.2e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,071,084 (GRCm39) |
K1536E |
possibly damaging |
Het |
| Abhd16a |
T |
A |
17: 35,320,936 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
C |
T |
3: 30,652,696 (GRCm39) |
A133T |
probably benign |
Het |
| Adcy10 |
C |
T |
1: 165,391,806 (GRCm39) |
R1329W |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,307,656 (GRCm39) |
M280V |
possibly damaging |
Het |
| Canx |
A |
T |
11: 50,202,455 (GRCm39) |
D50E |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,338,696 (GRCm39) |
D470E |
probably damaging |
Het |
| Cyp2c23 |
C |
T |
19: 44,003,369 (GRCm39) |
D269N |
probably damaging |
Het |
| Ddah1 |
T |
C |
3: 145,464,774 (GRCm39) |
V53A |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,456,961 (GRCm39) |
V543A |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,657,743 (GRCm39) |
G295R |
probably damaging |
Het |
| Frs2 |
T |
C |
10: 116,909,968 (GRCm39) |
T465A |
probably benign |
Het |
| Glipr1 |
A |
T |
10: 111,824,737 (GRCm39) |
N156K |
probably benign |
Het |
| Gnpnat1 |
C |
T |
14: 45,622,074 (GRCm39) |
V40I |
probably benign |
Het |
| H2-Q7 |
T |
C |
17: 35,658,939 (GRCm39) |
L130P |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,358,665 (GRCm39) |
L86* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,275,679 (GRCm39) |
L2778P |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,284,503 (GRCm39) |
I3487N |
possibly damaging |
Het |
| Htra4 |
T |
G |
8: 25,515,716 (GRCm39) |
I441L |
probably benign |
Het |
| Ints7 |
A |
T |
1: 191,328,336 (GRCm39) |
H203L |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,142,676 (GRCm39) |
T601A |
possibly damaging |
Het |
| Lin7b |
T |
C |
7: 45,017,856 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
G |
T |
2: 160,745,674 (GRCm39) |
|
probably null |
Het |
| Map1lc3b |
A |
T |
8: 122,320,268 (GRCm39) |
H27L |
possibly damaging |
Het |
| Mfsd14a |
C |
A |
3: 116,427,532 (GRCm39) |
V369F |
probably damaging |
Het |
| Ndufa12 |
C |
T |
10: 94,056,641 (GRCm39) |
A123V |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,350,288 (GRCm39) |
F929L |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,053,679 (GRCm39) |
D279E |
probably benign |
Het |
| Or52m2 |
A |
G |
7: 102,264,145 (GRCm39) |
V17A |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,427,777 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
C |
3: 30,961,601 (GRCm39) |
I944V |
probably damaging |
Het |
| Phf20 |
C |
T |
2: 156,144,771 (GRCm39) |
A793V |
probably benign |
Het |
| Phf21a |
A |
C |
2: 92,187,352 (GRCm39) |
R540S |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,229,480 (GRCm39) |
C124R |
probably benign |
Het |
| Rif1 |
C |
T |
2: 51,966,187 (GRCm39) |
S93L |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,516,191 (GRCm39) |
T709A |
probably benign |
Het |
| Sele |
A |
G |
1: 163,877,084 (GRCm39) |
E120G |
probably damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,703,539 (GRCm39) |
L49P |
|
Het |
| Snap47 |
T |
C |
11: 59,319,373 (GRCm39) |
D255G |
probably damaging |
Het |
| Tcstv3 |
T |
C |
13: 120,779,146 (GRCm39) |
V15A |
probably damaging |
Het |
| Tmcc1 |
A |
T |
6: 116,020,092 (GRCm39) |
Y453* |
probably null |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,901,486 (GRCm39) |
V459E |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,790 (GRCm39) |
L209Q |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,576,585 (GRCm39) |
S998P |
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 |
|
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 |
|
|
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'- GTACCAAGGTCCCACTTACTC -3'
(R):5'- GCTCTGACTCGAAGAATCTGC -3'
Sequencing Primer
(F):5'- GCATGTGAACCCACCGTCAG -3'
(R):5'- TGCAGTGAGTCTAAATCCGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation