Incidental Mutation 'R1724:Lmbr1'
| ID |
191669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmbr1
|
| Ensembl Gene |
ENSMUSG00000010721 |
| Gene Name |
limb region 1 |
| Synonyms |
1110048D14Rik, C79130 |
| MMRRC Submission |
039756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
29434800-29583414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29566081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 48
(E48D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055195]
[ENSMUST00000179191]
[ENSMUST00000196321]
[ENSMUST00000198105]
[ENSMUST00000200564]
|
| AlphaFold |
Q9JIT0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055195
AA Change: E48D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000058405
Gene: ENSMUSG00000010721
AA Change: E48D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
26 |
281 |
3.5e-46 |
PFAM |
|
Pfam:LMBR1
|
239 |
445 |
1.7e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179191
AA Change: E48D
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000136160
Gene: ENSMUSG00000010721
AA Change: E48D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
23 |
108 |
6e-31 |
PFAM |
|
Pfam:LMBR1
|
106 |
418 |
5.3e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196321
|
| SMART Domains |
Protein: ENSMUSP00000143348
Gene: ENSMUSG00000010721
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
1 |
323 |
4e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198105
AA Change: E48D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000142755
Gene: ENSMUSG00000010721
AA Change: E48D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
23 |
107 |
5.4e-30 |
PFAM |
|
Pfam:LMBR1
|
106 |
419 |
3.4e-101 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198367
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200564
|
| SMART Domains |
Protein: ENSMUSP00000143316
Gene: ENSMUSG00000010721
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
1 |
310 |
8.6e-92 |
PFAM |
|
| Meta Mutation Damage Score |
0.0626 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show minor coalitions of distal wrist bones and a low incidence of limb defects, including oligodactyly, brachyphalangia, and soft tissue or bony syndactyly. Homozygotes for another null allele exhibit 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 |
|---|
| Adamts13 |
T |
C |
2: 26,881,306 (GRCm39) |
V761A |
probably benign |
Het |
| Arap1 |
G |
T |
7: 101,049,733 (GRCm39) |
A1032S |
possibly damaging |
Het |
| Atg4d |
C |
T |
9: 21,179,741 (GRCm39) |
H230Y |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bcdin3d |
T |
A |
15: 99,368,561 (GRCm39) |
K213* |
probably null |
Het |
| Cep295nl |
T |
A |
11: 118,223,854 (GRCm39) |
E330V |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,714 (GRCm39) |
Y562C |
probably damaging |
Het |
| Col9a2 |
G |
A |
4: 120,911,099 (GRCm39) |
R578Q |
probably damaging |
Het |
| Creld1 |
A |
G |
6: 113,461,535 (GRCm39) |
D85G |
possibly damaging |
Het |
| Cth |
A |
T |
3: 157,619,364 (GRCm39) |
V153D |
probably damaging |
Het |
| Dazap2 |
T |
A |
15: 100,515,884 (GRCm39) |
Y71N |
probably damaging |
Het |
| Ddah1 |
A |
C |
3: 145,597,261 (GRCm39) |
D269A |
probably damaging |
Het |
| Dhx9 |
A |
C |
1: 153,334,234 (GRCm39) |
D975E |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,467,964 (GRCm39) |
D805E |
possibly damaging |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Gabpb2 |
T |
C |
3: 95,113,826 (GRCm39) |
D19G |
probably damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,161,651 (GRCm39) |
M325K |
probably damaging |
Het |
| Galntl5 |
T |
G |
5: 25,425,120 (GRCm39) |
N379K |
possibly damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Gm5356 |
G |
A |
8: 89,913,684 (GRCm39) |
|
noncoding transcript |
Het |
| Kifap3 |
C |
T |
1: 163,610,666 (GRCm39) |
R49* |
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lce1l |
A |
T |
3: 92,757,726 (GRCm39) |
V44E |
unknown |
Het |
| Nes |
C |
A |
3: 87,884,748 (GRCm39) |
N958K |
probably benign |
Het |
| Nwd1 |
A |
C |
8: 73,438,248 (GRCm39) |
H1432P |
probably damaging |
Het |
| Or2d2b |
G |
A |
7: 106,705,409 (GRCm39) |
H220Y |
probably benign |
Het |
| Or52h9 |
T |
C |
7: 104,202,435 (GRCm39) |
F103S |
probably damaging |
Het |
| Osgepl1 |
A |
G |
1: 53,357,062 (GRCm39) |
T75A |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,302,529 (GRCm39) |
S358P |
possibly damaging |
Het |
| Pramel14 |
C |
T |
4: 143,720,002 (GRCm39) |
G121D |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Sdc4 |
G |
T |
2: 164,273,206 (GRCm39) |
Q35K |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,824,882 (GRCm39) |
S377G |
probably benign |
Het |
| Spag16 |
G |
C |
1: 70,532,941 (GRCm39) |
G540A |
probably damaging |
Het |
| Sun1 |
T |
A |
5: 139,221,480 (GRCm39) |
D517E |
probably benign |
Het |
| Taf3 |
A |
G |
2: 9,957,177 (GRCm39) |
V177A |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,906,162 (GRCm39) |
L246P |
possibly damaging |
Het |
| Tle7 |
C |
A |
8: 110,836,795 (GRCm39) |
T227N |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,885,569 (GRCm39) |
G862* |
probably null |
Het |
| Trpm8 |
A |
T |
1: 88,278,578 (GRCm39) |
T584S |
possibly damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,961,757 (GRCm39) |
S2P |
probably benign |
Het |
| Zc2hc1c |
G |
T |
12: 85,336,586 (GRCm39) |
R81L |
probably benign |
Het |
| Zfp292 |
C |
A |
4: 34,811,237 (GRCm39) |
L602F |
probably damaging |
Het |
|
| Other mutations in Lmbr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01645:Lmbr1
|
APN |
5 |
29,440,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02285:Lmbr1
|
APN |
5 |
29,459,233 (GRCm39) |
splice site |
probably benign |
|
|
IGL02793:Lmbr1
|
APN |
5 |
29,497,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02875:Lmbr1
|
APN |
5 |
29,497,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03103:Lmbr1
|
APN |
5 |
29,440,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02988:Lmbr1
|
UTSW |
5 |
29,497,221 (GRCm39) |
splice site |
probably null |
|
|
R0255:Lmbr1
|
UTSW |
5 |
29,457,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Lmbr1
|
UTSW |
5 |
29,497,207 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0993:Lmbr1
|
UTSW |
5 |
29,492,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Lmbr1
|
UTSW |
5 |
29,463,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Lmbr1
|
UTSW |
5 |
29,459,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2056:Lmbr1
|
UTSW |
5 |
29,438,092 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2996:Lmbr1
|
UTSW |
5 |
29,568,931 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4082:Lmbr1
|
UTSW |
5 |
29,463,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Lmbr1
|
UTSW |
5 |
29,551,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Lmbr1
|
UTSW |
5 |
29,492,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4857:Lmbr1
|
UTSW |
5 |
29,528,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5495:Lmbr1
|
UTSW |
5 |
29,551,851 (GRCm39) |
nonsense |
probably null |
|
|
R5647:Lmbr1
|
UTSW |
5 |
29,468,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6393:Lmbr1
|
UTSW |
5 |
29,459,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Lmbr1
|
UTSW |
5 |
29,583,166 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6486:Lmbr1
|
UTSW |
5 |
29,528,859 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6576:Lmbr1
|
UTSW |
5 |
29,496,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Lmbr1
|
UTSW |
5 |
29,497,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Lmbr1
|
UTSW |
5 |
29,566,090 (GRCm39) |
splice site |
probably null |
|
|
R7484:Lmbr1
|
UTSW |
5 |
29,551,850 (GRCm39) |
start gained |
probably benign |
|
|
R7487:Lmbr1
|
UTSW |
5 |
29,459,262 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8390:Lmbr1
|
UTSW |
5 |
29,440,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9006:Lmbr1
|
UTSW |
5 |
29,551,900 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9596:Lmbr1
|
UTSW |
5 |
29,440,105 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Lmbr1
|
UTSW |
5 |
29,528,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACGCTCAGCTTGAATAAGCACAT -3'
(R):5'- GGCTGCTGGTCATTAGTAACCCAAA -3'
Sequencing Primer
(F):5'- aagggaggcagaggcag -3'
(R):5'- CATAGGCATCTTATCCTGACATTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation