Incidental Mutation 'IGL00562:Sftpb'
| ID |
332615 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sftpb
|
| Ensembl Gene |
ENSMUSG00000056370 |
| Gene Name |
surfactant associated protein B |
| Synonyms |
SF-B, Sftp-3, Sftp3, SP-B |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.629)
|
| Stock # |
IGL00562
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
72281594-72291354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72286845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 228
(A228S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070437]
[ENSMUST00000182014]
[ENSMUST00000183018]
[ENSMUST00000183278]
|
| AlphaFold |
P50405 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070437
AA Change: A250S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000066805
Gene: ENSMUSG00000056370
AA Change: A250S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SAPA
|
27 |
60 |
1.27e-16 |
SMART |
|
SapB
|
66 |
142 |
4.21e-21 |
SMART |
|
low complexity region
|
159 |
182 |
N/A |
INTRINSIC |
|
SapB
|
197 |
267 |
7.13e-10 |
SMART |
|
SapB
|
292 |
361 |
2.5e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182014
|
| SMART Domains |
Protein: ENSMUSP00000138204
Gene: ENSMUSG00000056370
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SAPA
|
27 |
60 |
1.27e-16 |
SMART |
|
SapB
|
66 |
142 |
4.21e-21 |
SMART |
|
low complexity region
|
159 |
182 |
N/A |
INTRINSIC |
|
PDB:1DFW|A
|
192 |
216 |
1e-7 |
PDB |
|
Blast:SapB
|
197 |
234 |
3e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182765
|
| SMART Domains |
Protein: ENSMUSP00000138298
Gene: ENSMUSG00000056370
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
28 |
N/A |
INTRINSIC |
|
Blast:SapB
|
43 |
91 |
1e-20 |
BLAST |
|
PDB:2JOU|A
|
45 |
92 |
1e-7 |
PDB |
|
SapB
|
116 |
185 |
2.5e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183018
AA Change: A228S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138695
Gene: ENSMUSG00000056370
AA Change: A228S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SAPA
|
27 |
60 |
1.27e-16 |
SMART |
|
SapB
|
66 |
142 |
4.21e-21 |
SMART |
|
low complexity region
|
159 |
182 |
N/A |
INTRINSIC |
|
Blast:SapB
|
197 |
245 |
3e-19 |
BLAST |
|
PDB:2JOU|A
|
199 |
246 |
3e-7 |
PDB |
|
SapB
|
270 |
339 |
2.5e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183278
|
| SMART Domains |
Protein: ENSMUSP00000138485
Gene: ENSMUSG00000056370
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SAPA
|
27 |
60 |
1.27e-16 |
SMART |
|
SapB
|
66 |
142 |
4.21e-21 |
SMART |
|
low complexity region
|
159 |
182 |
N/A |
INTRINSIC |
|
PDB:1DFW|A
|
192 |
216 |
1e-7 |
PDB |
|
Blast:SapB
|
197 |
234 |
3e-15 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
PHENOTYPE: Inactivation of this gene results in respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
C |
5: 25,202,619 (GRCm39) |
|
probably benign |
Het |
| AU016765 |
C |
A |
17: 64,826,877 (GRCm39) |
|
noncoding transcript |
Het |
| Chaf1b |
T |
C |
16: 93,697,079 (GRCm39) |
|
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,464,505 (GRCm39) |
|
probably benign |
Het |
| Crip1 |
T |
A |
12: 113,117,232 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,299,041 (GRCm39) |
S3211P |
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,865,143 (GRCm39) |
R172W |
probably damaging |
Het |
| Fktn |
A |
T |
4: 53,747,007 (GRCm39) |
|
probably null |
Het |
| Focad |
T |
A |
4: 88,267,046 (GRCm39) |
M1019K |
unknown |
Het |
| Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
| Kcna3 |
A |
G |
3: 106,944,046 (GRCm39) |
D103G |
probably damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,942,853 (GRCm39) |
V19A |
probably benign |
Het |
| Ndufb3 |
T |
A |
1: 58,634,958 (GRCm39) |
H103Q |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,382,779 (GRCm39) |
V1675A |
possibly damaging |
Het |
| Ptger4 |
A |
T |
15: 5,272,614 (GRCm39) |
S2T |
probably benign |
Het |
| Saxo1 |
C |
T |
4: 86,363,809 (GRCm39) |
E225K |
probably damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,138,993 (GRCm39) |
T490S |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,900,918 (GRCm39) |
N50S |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,351,532 (GRCm39) |
S854T |
probably benign |
Het |
| Smim23 |
T |
C |
11: 32,771,893 (GRCm39) |
T58A |
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,100 (GRCm39) |
I193T |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,379,658 (GRCm39) |
|
probably null |
Het |
| Trav13n-4 |
T |
G |
14: 53,601,423 (GRCm39) |
V64G |
possibly damaging |
Het |
| Trmt10a |
G |
A |
3: 137,853,177 (GRCm39) |
E13K |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,922,496 (GRCm39) |
S239G |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,077 (GRCm39) |
N442K |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,712,078 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sftpb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02013:Sftpb
|
APN |
6 |
72,282,655 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1741:Sftpb
|
UTSW |
6 |
72,282,797 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2159:Sftpb
|
UTSW |
6 |
72,286,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Sftpb
|
UTSW |
6 |
72,281,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5315:Sftpb
|
UTSW |
6 |
72,283,876 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5506:Sftpb
|
UTSW |
6 |
72,281,651 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6415:Sftpb
|
UTSW |
6 |
72,281,633 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6622:Sftpb
|
UTSW |
6 |
72,282,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7130:Sftpb
|
UTSW |
6 |
72,282,808 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7342:Sftpb
|
UTSW |
6 |
72,286,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7527:Sftpb
|
UTSW |
6 |
72,282,048 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7644:Sftpb
|
UTSW |
6 |
72,286,818 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9291:Sftpb
|
UTSW |
6 |
72,286,880 (GRCm39) |
nonsense |
probably null |
|
|
R9365:Sftpb
|
UTSW |
6 |
72,284,189 (GRCm39) |
nonsense |
probably null |
|
|
R9432:Sftpb
|
UTSW |
6 |
72,283,843 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation