Incidental Mutation 'R5473:Scara5'
| ID |
433947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scara5
|
| Ensembl Gene |
ENSMUSG00000022032 |
| Gene Name |
scavenger receptor class A, member 5 |
| Synonyms |
4933425F03Rik, 4932433F15Rik |
| MMRRC Submission |
043034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R5473 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65903852-66002275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65977788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 349
(D349E)
|
| 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: D349E
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022610
Gene: ENSMUSG00000022032
AA Change: D349E
| 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: D349E
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063391
Gene: ENSMUSG00000022032
AA Change: D349E
| 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
|
| Meta Mutation Damage Score |
0.1677 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (66/66) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
C |
7: 119,312,173 (GRCm39) |
Y549H |
probably damaging |
Het |
| Adamtsl4 |
G |
T |
3: 95,587,303 (GRCm39) |
Q758K |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,449,115 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,492,797 (GRCm39) |
C1316S |
probably benign |
Het |
| Birc5 |
T |
C |
11: 117,743,533 (GRCm39) |
V89A |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,391,048 (GRCm39) |
|
probably benign |
Het |
| Ccdc47 |
A |
T |
11: 106,095,855 (GRCm39) |
S280R |
probably damaging |
Het |
| Cntnap5a |
T |
A |
1: 116,016,986 (GRCm39) |
F193Y |
probably benign |
Het |
| Cntrob |
G |
T |
11: 69,213,579 (GRCm39) |
D70E |
possibly damaging |
Het |
| Col24a1 |
A |
C |
3: 145,243,016 (GRCm39) |
M1519L |
probably benign |
Het |
| Col2a1 |
G |
T |
15: 97,885,370 (GRCm39) |
A491D |
unknown |
Het |
| Crat |
A |
G |
2: 30,297,726 (GRCm39) |
L266P |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,824,025 (GRCm39) |
|
probably benign |
Het |
| Dnaaf10 |
T |
C |
11: 17,174,591 (GRCm39) |
V153A |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,039,351 (GRCm39) |
H104L |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,398,782 (GRCm39) |
K774E |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,538 (GRCm39) |
I464T |
probably benign |
Het |
| Gorasp2 |
A |
C |
2: 70,508,950 (GRCm39) |
M123L |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,678,261 (GRCm39) |
V188E |
probably damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,541,913 (GRCm39) |
W333R |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,154,985 (GRCm39) |
Y175H |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,914,201 (GRCm39) |
T1756K |
probably benign |
Het |
| Kcnq5 |
A |
G |
1: 21,527,626 (GRCm39) |
|
probably null |
Het |
| Kiz |
G |
T |
2: 146,811,915 (GRCm39) |
E675* |
probably null |
Het |
| Mcm3ap |
T |
G |
10: 76,338,593 (GRCm39) |
L1407R |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,158,952 (GRCm39) |
D444G |
probably benign |
Het |
| Myl3 |
C |
A |
9: 110,597,026 (GRCm39) |
H129N |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,788,126 (GRCm39) |
N1309S |
possibly damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,897,520 (GRCm39) |
Y269N |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,395,585 (GRCm39) |
N1165S |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,334,856 (GRCm39) |
D302G |
probably benign |
Het |
| Olfr908 |
A |
G |
9: 38,427,508 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or10j3 |
G |
C |
1: 173,031,732 (GRCm39) |
G270R |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,630 (GRCm39) |
F247L |
probably benign |
Het |
| Or5d38 |
A |
T |
2: 87,954,981 (GRCm39) |
M116K |
possibly damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,045 (GRCm38) |
S241R |
probably damaging |
Het |
| Pde1a |
G |
T |
2: 79,736,372 (GRCm39) |
S87R |
probably damaging |
Het |
| Plagl2 |
A |
T |
2: 153,074,114 (GRCm39) |
C262* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,361,140 (GRCm39) |
K1233R |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,045,229 (GRCm39) |
M951K |
probably benign |
Het |
| Pramel12 |
A |
G |
4: 143,145,874 (GRCm39) |
R448G |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,642,824 (GRCm39) |
K438E |
probably benign |
Het |
| Pum3 |
C |
A |
19: 27,396,248 (GRCm39) |
V328F |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,495 (GRCm39) |
E1677G |
probably benign |
Het |
| Rpf2 |
A |
G |
10: 40,103,627 (GRCm39) |
V96A |
possibly damaging |
Het |
| Rsrc2 |
C |
T |
5: 123,869,150 (GRCm39) |
A98T |
probably damaging |
Het |
| Saraf |
G |
A |
8: 34,628,412 (GRCm39) |
R86Q |
probably damaging |
Het |
| Slc30a1 |
T |
C |
1: 191,641,734 (GRCm39) |
V460A |
possibly damaging |
Het |
| Tdrd7 |
G |
T |
4: 46,020,877 (GRCm39) |
V768L |
possibly damaging |
Het |
| Tshz2 |
T |
C |
2: 169,725,718 (GRCm39) |
S105P |
probably benign |
Het |
| Ufsp2 |
A |
G |
8: 46,445,258 (GRCm39) |
I362M |
probably damaging |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,159 (GRCm39) |
I106K |
probably benign |
Het |
| Zdhhc5 |
A |
G |
2: 84,520,810 (GRCm39) |
Y456H |
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 |
|
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 |
|
|
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'- TGCCCTGTAGGATGCTAAGC -3'
(R):5'- GCAACCTGTATACATATACCCATGC -3'
Sequencing Primer
(F):5'- CCCTGTAGGATGCTAAGCAAGGG -3'
(R):5'- TGCACCCACACATGCATG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation