Incidental Mutation 'R4547:Scara5'
| ID |
333839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scara5
|
| Ensembl Gene |
ENSMUSG00000022032 |
| Gene Name |
scavenger receptor class A, member 5 |
| Synonyms |
4933425F03Rik, 4932433F15Rik |
| MMRRC Submission |
041781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R4547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65903852-66002275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65908023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 4
(K4N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022610]
[ENSMUST00000069226]
|
| AlphaFold |
Q8K299 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022610
AA Change: K4N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022610
Gene: ENSMUSG00000022032
AA Change: K4N
| 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 |
possibly damaging
Transcript: ENSMUST00000069226
AA Change: K4N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063391
Gene: ENSMUSG00000022032
AA Change: K4N
| 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 |
|
| Meta Mutation Damage Score |
0.0704 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
T |
14: 54,883,124 (GRCm39) |
A909E |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,913,357 (GRCm39) |
E23G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,817,032 (GRCm39) |
R148G |
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,925 (GRCm39) |
V1604A |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,390,535 (GRCm39) |
T625K |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cfhr3 |
T |
G |
1: 139,512,651 (GRCm39) |
|
noncoding transcript |
Het |
| Csmd1 |
T |
C |
8: 16,441,811 (GRCm39) |
D351G |
possibly damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,169,388 (GRCm39) |
D404E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,065,073 (GRCm39) |
L88P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 39,005,432 (GRCm39) |
F1944L |
probably damaging |
Het |
| Frmd4a |
C |
A |
2: 4,477,956 (GRCm39) |
L46I |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,548,651 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,537,271 (GRCm39) |
V867E |
probably benign |
Het |
| Lnpk |
C |
G |
2: 74,352,630 (GRCm39) |
E351Q |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,661,878 (GRCm39) |
D364G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,227,467 (GRCm39) |
V567I |
probably benign |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,411,445 (GRCm39) |
|
probably null |
Het |
| Ncdn |
A |
G |
4: 126,640,467 (GRCm39) |
F542S |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,036,291 (GRCm39) |
N715D |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,382,968 (GRCm39) |
|
probably benign |
Het |
| Or10ag57 |
G |
A |
2: 87,218,504 (GRCm39) |
V152I |
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,854 (GRCm38) |
I76N |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,258,629 (GRCm39) |
L349P |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,370,496 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
C |
1: 125,500,119 (GRCm39) |
L211S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,146,731 (GRCm39) |
F285I |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,625 (GRCm39) |
V398A |
possibly damaging |
Het |
| Smc2 |
T |
C |
4: 52,467,866 (GRCm39) |
S737P |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,785,170 (GRCm39) |
I229V |
possibly damaging |
Het |
| Tac1 |
A |
G |
6: 7,557,216 (GRCm39) |
D74G |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,490,771 (GRCm39) |
V607A |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,837,564 (GRCm39) |
V582A |
possibly damaging |
Het |
| Traf4 |
A |
G |
11: 78,051,863 (GRCm39) |
I207T |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,819,068 (GRCm39) |
R449G |
possibly damaging |
Het |
| Ubn1 |
G |
A |
16: 4,889,956 (GRCm39) |
R407H |
probably damaging |
Het |
| Vmn1r19 |
C |
T |
6: 57,381,774 (GRCm39) |
T109I |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vsig8 |
A |
T |
1: 172,388,163 (GRCm39) |
M44L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCATGTCAATGCATCTGTG -3'
(R):5'- GGGTATCCAAAGCACAGTGG -3'
Sequencing Primer
(F):5'- CGGTCACTGAGGCTTACACAG -3'
(R):5'- GTGGAAATTAAGGATCTTCAACACCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation