Incidental Mutation 'IGL00772:Scara5'
| ID |
28915 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scara5
|
| Ensembl Gene |
ENSMUSG00000022032 |
| Gene Name |
scavenger receptor class A, member 5 |
| Synonyms |
4933425F03Rik, 4932433F15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL00772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65903852-66002275 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
G to A
at 65908011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022610]
[ENSMUST00000069226]
|
| AlphaFold |
Q8K299 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022610
|
| SMART Domains |
Protein: ENSMUSP00000022610
Gene: ENSMUSG00000022032
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
304 |
357 |
1.8e-8 |
PFAM |
|
Pfam:Collagen
|
327 |
383 |
1.1e-8 |
PFAM |
|
SR
|
389 |
489 |
5.5e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069226
|
| SMART Domains |
Protein: ENSMUSP00000063391
Gene: ENSMUSG00000022032
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
304 |
360 |
1e-11 |
PFAM |
|
Pfam:Collagen
|
329 |
386 |
1.9e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous deletion of this gene results in decreased male fertility and lymphocytic infiltration of the stroma of various tissues, particularly in the lungs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
T |
1: 59,209,055 (GRCm39) |
C1501* |
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,121,697 (GRCm39) |
E513G |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,876,982 (GRCm39) |
D119G |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,735,060 (GRCm39) |
|
probably benign |
Het |
| Cobl |
A |
G |
11: 12,216,985 (GRCm39) |
M419T |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,977 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,342,083 (GRCm39) |
Y2968D |
probably damaging |
Het |
| Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,380,992 (GRCm39) |
S494P |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,783,971 (GRCm39) |
I825N |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,455,349 (GRCm39) |
T78A |
probably benign |
Het |
| Lipi |
A |
T |
16: 75,347,254 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,209,296 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,430,199 (GRCm39) |
E636G |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,017,920 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
A |
G |
4: 111,796,120 (GRCm39) |
I265V |
probably benign |
Het |
| Slc48a1 |
A |
G |
15: 97,687,835 (GRCm39) |
Y63C |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,640,194 (GRCm39) |
V598L |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,758,893 (GRCm39) |
K565* |
probably null |
Het |
| Spink5 |
A |
G |
18: 44,139,487 (GRCm39) |
I617V |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,321 (GRCm39) |
V112A |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
|
| Other mutations in Scara5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Scara5
|
APN |
14 |
65,975,864 (GRCm39) |
splice site |
probably benign |
|
|
IGL01768:Scara5
|
APN |
14 |
65,927,224 (GRCm39) |
nonsense |
probably null |
|
|
IGL02081:Scara5
|
APN |
14 |
65,968,104 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02280:Scara5
|
APN |
14 |
65,968,227 (GRCm39) |
missense |
probably benign |
|
|
IGL02795:Scara5
|
APN |
14 |
65,968,129 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02887:Scara5
|
APN |
14 |
66,000,278 (GRCm39) |
missense |
unknown |
|
|
R0040:Scara5
|
UTSW |
14 |
66,000,166 (GRCm39) |
splice site |
probably benign |
|
|
R0605:Scara5
|
UTSW |
14 |
65,997,097 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0735:Scara5
|
UTSW |
14 |
65,968,468 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0925:Scara5
|
UTSW |
14 |
66,000,167 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1575:Scara5
|
UTSW |
14 |
65,968,314 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1746:Scara5
|
UTSW |
14 |
65,968,539 (GRCm39) |
missense |
probably benign |
|
|
R1968:Scara5
|
UTSW |
14 |
65,927,249 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4455:Scara5
|
UTSW |
14 |
66,000,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4547:Scara5
|
UTSW |
14 |
65,908,023 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4779:Scara5
|
UTSW |
14 |
65,968,198 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5218:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5316:Scara5
|
UTSW |
14 |
65,927,264 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5331:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5332:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5366:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5367:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5368:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5369:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5417:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5418:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5420:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5447:Scara5
|
UTSW |
14 |
65,997,111 (GRCm39) |
frame shift |
probably null |
|
|
R5473:Scara5
|
UTSW |
14 |
65,977,788 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5580:Scara5
|
UTSW |
14 |
65,968,528 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7734:Scara5
|
UTSW |
14 |
65,968,600 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7995:Scara5
|
UTSW |
14 |
65,997,057 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8090:Scara5
|
UTSW |
14 |
65,979,586 (GRCm39) |
nonsense |
probably null |
|
|
R8308:Scara5
|
UTSW |
14 |
65,927,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9036:Scara5
|
UTSW |
14 |
66,000,197 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Posted On |
2013-04-17 |
Incidental Mutation