Incidental Mutation 'IGL02203:Sftpc'
| ID |
284402 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sftpc
|
| Ensembl Gene |
ENSMUSG00000022097 |
| Gene Name |
surfactant associated protein C |
| Synonyms |
Sftp2, SP-C, SPC, Sftp-2, pro-SpC, Bricd6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
IGL02203
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70758389-70761521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 70759309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 124
(M124R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022692]
[ENSMUST00000022693]
[ENSMUST00000226246]
[ENSMUST00000226906]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022692
AA Change: M124R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022692
Gene: ENSMUSG00000022097
AA Change: M124R
| Domain | Start | End | E-Value | Type |
|---|
|
SF_P
|
1 |
193 |
7.3e-150 |
SMART |
|
BRICHOS
|
94 |
193 |
3.29e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022693
|
| SMART Domains |
Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
ZnMc
|
131 |
273 |
1.32e-54 |
SMART |
|
CUB
|
327 |
439 |
4.35e-43 |
SMART |
|
CUB
|
440 |
552 |
7.86e-50 |
SMART |
|
EGF_CA
|
552 |
593 |
5.03e-11 |
SMART |
|
CUB
|
596 |
708 |
1.13e-50 |
SMART |
|
EGF_CA
|
708 |
748 |
4.81e-8 |
SMART |
|
CUB
|
752 |
864 |
3.99e-51 |
SMART |
|
CUB
|
865 |
981 |
7.35e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227152
|
| 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 C (SPC), an extremely hydrophobic 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. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display respiratory abnormalities similar to emphysema. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
C |
3: 121,973,457 (GRCm39) |
D1095A |
probably benign |
Het |
| Acmsd |
T |
C |
1: 127,666,342 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
G |
A |
14: 49,317,715 (GRCm39) |
G324D |
probably damaging |
Het |
| Api5 |
T |
G |
2: 94,255,419 (GRCm39) |
N252T |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,863,387 (GRCm39) |
C743* |
probably null |
Het |
| Clpb |
A |
G |
7: 101,428,544 (GRCm39) |
T435A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,713,073 (GRCm39) |
|
probably null |
Het |
| Cyp3a11 |
T |
G |
5: 145,805,976 (GRCm39) |
R130S |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,721,173 (GRCm39) |
T612A |
probably benign |
Het |
| Dipk1a |
A |
G |
5: 108,059,647 (GRCm39) |
L57S |
probably benign |
Het |
| Eng |
A |
G |
2: 32,561,498 (GRCm39) |
I170V |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,204,524 (GRCm39) |
M74K |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,514,944 (GRCm39) |
T268A |
possibly damaging |
Het |
| Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
| Il13ra2 |
A |
G |
X: 146,166,669 (GRCm39) |
L367P |
possibly damaging |
Het |
| Insr |
T |
C |
8: 3,205,817 (GRCm39) |
H1324R |
probably benign |
Het |
| Lgi3 |
A |
G |
14: 70,771,958 (GRCm39) |
E215G |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,790,348 (GRCm39) |
T654A |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,785,068 (GRCm39) |
Y242C |
probably damaging |
Het |
| Myo16 |
A |
T |
8: 10,620,132 (GRCm39) |
Q1561L |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,973,134 (GRCm39) |
M2222R |
probably damaging |
Het |
| Or10ak13 |
A |
T |
4: 118,639,626 (GRCm39) |
V52D |
possibly damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,379 (GRCm39) |
I222F |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,313,837 (GRCm39) |
I17T |
probably benign |
Het |
| Or5ap2 |
T |
G |
2: 85,680,432 (GRCm39) |
F212C |
probably damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,719 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,606,160 (GRCm39) |
P1239L |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,260,118 (GRCm39) |
I499K |
probably damaging |
Het |
| Rabep2 |
G |
T |
7: 126,039,566 (GRCm39) |
R331L |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,889 (GRCm39) |
T397A |
probably benign |
Het |
| Slc25a38 |
A |
G |
9: 119,949,878 (GRCm39) |
Y198C |
probably damaging |
Het |
| Sppl2a |
A |
T |
2: 126,746,861 (GRCm39) |
M489K |
possibly damaging |
Het |
| Swt1 |
T |
A |
1: 151,246,377 (GRCm39) |
K849N |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,219,457 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,432 (GRCm39) |
V608A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,619,369 (GRCm39) |
Y1349C |
probably damaging |
Het |
| Ybx3 |
A |
G |
6: 131,345,371 (GRCm39) |
V265A |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Sftpc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0158:Sftpc
|
UTSW |
14 |
70,758,887 (GRCm39) |
missense |
probably null |
0.15 |
|
R0305:Sftpc
|
UTSW |
14 |
70,761,518 (GRCm39) |
unclassified |
probably benign |
|
|
R0448:Sftpc
|
UTSW |
14 |
70,760,120 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0463:Sftpc
|
UTSW |
14 |
70,760,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3028:Sftpc
|
UTSW |
14 |
70,758,865 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4623:Sftpc
|
UTSW |
14 |
70,759,718 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7593:Sftpc
|
UTSW |
14 |
70,759,623 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7988:Sftpc
|
UTSW |
14 |
70,760,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9153:Sftpc
|
UTSW |
14 |
70,759,650 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9699:Sftpc
|
UTSW |
14 |
70,760,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation