Incidental Mutation 'IGL02283:Sftpd'
| ID |
289914 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sftpd
|
| Ensembl Gene |
ENSMUSG00000021795 |
| Gene Name |
surfactant associated protein D |
| Synonyms |
Sfpd, SP-D, Sftp4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
IGL02283
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
40894171-40907106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40894423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 332
(V332D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077136]
|
| AlphaFold |
P50404 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077136
AA Change: V332D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000076383
Gene: ENSMUSG00000021795
AA Change: V332D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
40 |
96 |
5.7e-11 |
PFAM |
|
low complexity region
|
99 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
150 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
162 |
224 |
3.3e-12 |
PFAM |
|
CLECT
|
252 |
373 |
7.38e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225892
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased pool sizes of alveolar and tissue phosphatidylcholine, accumulation of surfactant lipids, altered phospholipid structure, emphysema, and pulmonary fibrosis and chronic inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
C |
10: 83,331,759 (GRCm39) |
Y682C |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,609,450 (GRCm39) |
|
probably null |
Het |
| Arhgap1 |
A |
G |
2: 91,501,121 (GRCm39) |
N399S |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,254,248 (GRCm39) |
I511N |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,906,935 (GRCm39) |
C1428S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,948,943 (GRCm39) |
T190A |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,731,251 (GRCm39) |
D318E |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,125,912 (GRCm39) |
V1898E |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,802,671 (GRCm39) |
M1095T |
probably damaging |
Het |
| Gypa |
G |
A |
8: 81,220,721 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,168 (GRCm39) |
T1633A |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,277,933 (GRCm39) |
V512A |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,778,956 (GRCm39) |
N1571D |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,613,265 (GRCm39) |
D846G |
probably benign |
Het |
| Or2ak6 |
A |
T |
11: 58,593,102 (GRCm39) |
T192S |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,209,162 (GRCm39) |
D263G |
probably benign |
Het |
| Or4d11 |
A |
G |
19: 12,013,219 (GRCm39) |
S296P |
possibly damaging |
Het |
| Or7a41 |
T |
C |
10: 78,871,379 (GRCm39) |
S250P |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,815 (GRCm39) |
S863T |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,293 (GRCm39) |
N208K |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,956,718 (GRCm39) |
D321G |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,001,268 (GRCm39) |
N122K |
probably damaging |
Het |
| Slk |
T |
A |
19: 47,630,432 (GRCm39) |
F1170Y |
probably damaging |
Het |
| Spata7 |
A |
C |
12: 98,624,517 (GRCm39) |
T140P |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,694,356 (GRCm39) |
L497S |
probably damaging |
Het |
|
| Other mutations in Sftpd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01640:Sftpd
|
APN |
14 |
40,894,592 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02252:Sftpd
|
APN |
14 |
40,894,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Sftpd
|
UTSW |
14 |
40,894,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2302:Sftpd
|
UTSW |
14 |
40,894,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Sftpd
|
UTSW |
14 |
40,894,537 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6945:Sftpd
|
UTSW |
14 |
40,896,449 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8069:Sftpd
|
UTSW |
14 |
40,894,538 (GRCm39) |
missense |
probably benign |
|
|
R8463:Sftpd
|
UTSW |
14 |
40,897,583 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8963:Sftpd
|
UTSW |
14 |
40,905,001 (GRCm39) |
missense |
probably benign |
|
|
R9346:Sftpd
|
UTSW |
14 |
40,896,466 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation