Incidental Mutation 'IGL01768:Scara5'
| ID |
154003 |
| 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 # |
IGL01768
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65903852-66002275 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 65927224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 40
(C40*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022610]
[ENSMUST00000069226]
|
| AlphaFold |
Q8K299 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022610
AA Change: C40*
|
| SMART Domains |
Protein: ENSMUSP00000022610
Gene: ENSMUSG00000022032
AA Change: C40*
| 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 null
Transcript: ENSMUST00000069226
AA Change: C40*
|
| SMART Domains |
Protein: ENSMUSP00000063391
Gene: ENSMUSG00000022032
AA Change: C40*
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aifm3 |
T |
C |
16: 17,324,141 (GRCm39) |
V567A |
possibly damaging |
Het |
| Arnt |
T |
C |
3: 95,398,327 (GRCm39) |
|
probably benign |
Het |
| C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,774,480 (GRCm39) |
R570H |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,778,311 (GRCm39) |
D42V |
possibly damaging |
Het |
| Cdk17 |
T |
C |
10: 93,044,123 (GRCm39) |
S21P |
probably damaging |
Het |
| Cdkl3 |
T |
A |
11: 51,916,744 (GRCm39) |
F291I |
probably damaging |
Het |
| Cfap210 |
A |
T |
2: 69,612,471 (GRCm39) |
|
probably benign |
Het |
| Clmn |
T |
C |
12: 104,747,978 (GRCm39) |
E523G |
probably damaging |
Het |
| Cyp4f14 |
A |
T |
17: 33,126,976 (GRCm39) |
I318N |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 72,036,659 (GRCm39) |
F1068L |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,621,455 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,003,914 (GRCm39) |
F236L |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,394 (GRCm39) |
V3606A |
probably damaging |
Het |
| Gpam |
G |
A |
19: 55,075,952 (GRCm39) |
T220M |
probably benign |
Het |
| Hyal1 |
C |
A |
9: 107,456,338 (GRCm39) |
L342I |
probably damaging |
Het |
| Ilvbl |
C |
A |
10: 78,419,127 (GRCm39) |
P459T |
possibly damaging |
Het |
| Itga5 |
A |
G |
15: 103,259,997 (GRCm39) |
Y632H |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,899 (GRCm39) |
L217M |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,707,291 (GRCm39) |
D299G |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,461,573 (GRCm39) |
V522A |
probably benign |
Het |
| Lmo3 |
A |
G |
6: 138,393,495 (GRCm39) |
C53R |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,436,043 (GRCm39) |
V305A |
probably benign |
Het |
| Oprm1 |
T |
C |
10: 6,779,186 (GRCm39) |
S196P |
probably damaging |
Het |
| Or2y1e |
G |
A |
11: 49,218,958 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or4z4 |
A |
T |
19: 12,076,403 (GRCm39) |
I200N |
probably damaging |
Het |
| Or7e168 |
G |
A |
9: 19,720,456 (GRCm39) |
V281M |
possibly damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,888,667 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
T |
C |
18: 37,639,768 (GRCm39) |
F765L |
possibly damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,664 (GRCm39) |
V3A |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,474,253 (GRCm39) |
I419V |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,916,314 (GRCm39) |
Q1212R |
probably benign |
Het |
| Slc31a1 |
G |
A |
4: 62,306,273 (GRCm39) |
|
probably null |
Het |
| Sparc |
G |
T |
11: 55,296,069 (GRCm39) |
N87K |
probably damaging |
Het |
| Tcf12 |
T |
C |
9: 71,776,278 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,860 (GRCm39) |
F258I |
probably benign |
Het |
| Tm2d2 |
G |
T |
8: 25,508,095 (GRCm39) |
V80L |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,320,199 (GRCm39) |
D2249G |
possibly damaging |
Het |
| Trim50 |
G |
T |
5: 135,392,736 (GRCm39) |
G217V |
possibly damaging |
Het |
| Ugcg |
T |
C |
4: 59,217,216 (GRCm39) |
|
probably null |
Het |
| Vmn2r107 |
A |
T |
17: 20,565,868 (GRCm39) |
H61L |
probably benign |
Het |
| Zfp84 |
A |
G |
7: 29,476,091 (GRCm39) |
H261R |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,748,301 (GRCm39) |
M293K |
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 |
|
|
IGL00772:Scara5
|
APN |
14 |
65,908,011 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation