Incidental Mutation 'IGL02280:Scara5'
| ID |
289803 |
| 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: 0.080)
|
| Stock # |
IGL02280
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65903852-66002275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65968227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 167
(M167V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022610]
[ENSMUST00000069226]
|
| AlphaFold |
Q8K299 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022610
AA Change: M167V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022610
Gene: ENSMUSG00000022032
AA Change: M167V
| 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
AA Change: M167V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063391
Gene: ENSMUSG00000022032
AA Change: M167V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154373
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C2cd6 |
A |
G |
1: 59,117,040 (GRCm39) |
|
probably null |
Het |
| Car12 |
T |
C |
9: 66,653,857 (GRCm39) |
L71P |
probably damaging |
Het |
| Dusp29 |
A |
T |
14: 21,736,787 (GRCm39) |
I105N |
probably damaging |
Het |
| Galnt7 |
T |
G |
8: 57,989,824 (GRCm39) |
R467S |
probably damaging |
Het |
| Glra3 |
T |
A |
8: 56,394,006 (GRCm39) |
L39Q |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,758,961 (GRCm39) |
K1526E |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,222,256 (GRCm39) |
R12G |
probably damaging |
Het |
| Ly6g6f |
G |
T |
17: 35,302,194 (GRCm39) |
H114Q |
probably benign |
Het |
| Mrc1 |
C |
A |
2: 14,249,024 (GRCm39) |
R187S |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,174,198 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
T |
C |
2: 87,405,689 (GRCm39) |
I87T |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,695 (GRCm39) |
S93P |
probably damaging |
Het |
| Parva |
T |
C |
7: 112,159,226 (GRCm39) |
I164T |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,058,295 (GRCm39) |
Q233L |
probably damaging |
Het |
| Pcdhb4 |
T |
G |
18: 37,440,735 (GRCm39) |
V15G |
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,901,589 (GRCm39) |
D538E |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,019,934 (GRCm39) |
I30N |
probably damaging |
Het |
| Robo2 |
G |
T |
16: 73,843,704 (GRCm39) |
D170E |
probably damaging |
Het |
| Sdr9c7 |
A |
C |
10: 127,738,287 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
A |
6: 48,473,165 (GRCm39) |
C4836S |
probably damaging |
Het |
| Taar7d |
A |
T |
10: 23,904,006 (GRCm39) |
D296V |
probably damaging |
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 |
|
|
IGL00772:Scara5
|
APN |
14 |
65,908,011 (GRCm39) |
utr 5 prime |
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 |
|
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 |
2015-04-16 |
Incidental Mutation