Incidental Mutation 'R1072:Sftpa1'
| ID |
85512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sftpa1
|
| Ensembl Gene |
ENSMUSG00000021789 |
| Gene Name |
surfactant associated protein A1 |
| Synonyms |
SP-A, SFTPA1, surfactant pulmonary associated protein A1, Sftp1, Sftp-1 |
| MMRRC Submission |
039158-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1072 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
40853745-40858330 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to G
at 40855592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022314]
[ENSMUST00000170719]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022314
|
| SMART Domains |
Protein: ENSMUSP00000022314
Gene: ENSMUSG00000021789
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
83 |
N/A |
INTRINSIC |
|
CLECT
|
126 |
247 |
3.61e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170719
|
| SMART Domains |
Protein: ENSMUSP00000129696
Gene: ENSMUSG00000021789
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
20 |
66 |
1.6e-7 |
PFAM |
|
Pfam:Collagen
|
65 |
102 |
1.9e-7 |
PFAM |
|
CLECT
|
126 |
247 |
3.61e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide. [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 |
|---|
| Abca14 |
T |
A |
7: 119,811,992 (GRCm39) |
F191Y |
probably benign |
Het |
| Ankrd55 |
G |
T |
13: 112,485,376 (GRCm39) |
A169S |
possibly damaging |
Het |
| Ano2 |
A |
G |
6: 126,016,287 (GRCm39) |
E940G |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,336,943 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Ccnf |
A |
T |
17: 24,456,136 (GRCm39) |
V283D |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Clec4b2 |
T |
C |
6: 123,181,233 (GRCm39) |
I206T |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,888,190 (GRCm39) |
V535A |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,807,855 (GRCm39) |
D1779E |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,749,316 (GRCm39) |
N1154D |
probably damaging |
Het |
| Klra10 |
A |
T |
6: 130,258,811 (GRCm39) |
H25Q |
probably benign |
Het |
| Lpo |
A |
G |
11: 87,709,260 (GRCm39) |
S94P |
probably damaging |
Het |
| Mbd5 |
A |
T |
2: 49,147,203 (GRCm39) |
N471I |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,199,490 (GRCm39) |
Y1366C |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,993,617 (GRCm39) |
I261T |
possibly damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,143,860 (GRCm39) |
F75S |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,650,357 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
A |
G |
3: 136,640,888 (GRCm39) |
M480V |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,215,663 (GRCm39) |
M1367K |
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,965,305 (GRCm39) |
N1181I |
probably damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,427,524 (GRCm39) |
T462A |
probably damaging |
Het |
| Spdye4c |
T |
C |
2: 128,438,557 (GRCm39) |
L305P |
probably benign |
Het |
| Th |
C |
A |
7: 142,448,225 (GRCm39) |
V275L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,733,721 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,460,914 (GRCm39) |
V2725A |
possibly damaging |
Het |
|
| Other mutations in Sftpa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01112:Sftpa1
|
APN |
14 |
40,854,527 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1836:Sftpa1
|
UTSW |
14 |
40,854,803 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2183:Sftpa1
|
UTSW |
14 |
40,854,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Sftpa1
|
UTSW |
14 |
40,854,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5152:Sftpa1
|
UTSW |
14 |
40,856,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Sftpa1
|
UTSW |
14 |
40,854,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7662:Sftpa1
|
UTSW |
14 |
40,856,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8737:Sftpa1
|
UTSW |
14 |
40,856,044 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9368:Sftpa1
|
UTSW |
14 |
40,854,417 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAGCTGAGCAGGTTCAAGCTAC -3'
(R):5'- TCCCAGTGACATCGGGAGGAAATC -3'
Sequencing Primer
(F):5'- TGAGCAGGTTCAAGCTACACTAAG -3'
(R):5'- GAGGAAATCCTTTCTCCAAGCC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation