Incidental Mutation 'R4794:Ssc5d'
ID |
368855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssc5d
|
Ensembl Gene |
ENSMUSG00000035279 |
Gene Name |
scavenger receptor cysteine rich family, 5 domains |
Synonyms |
A430110N23Rik, s5d-srcrb |
MMRRC Submission |
042420-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4794 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4946744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1033
(P1033S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057612]
[ENSMUST00000208109]
|
AlphaFold |
Q8BV57 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057612
AA Change: P1033S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052126 Gene: ENSMUSG00000035279 AA Change: P1033S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
SR
|
20 |
120 |
4.44e-49 |
SMART |
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
SR
|
199 |
299 |
2.36e-53 |
SMART |
SR
|
305 |
405 |
8.22e-53 |
SMART |
low complexity region
|
437 |
462 |
N/A |
INTRINSIC |
SR
|
464 |
565 |
1.11e-49 |
SMART |
low complexity region
|
741 |
755 |
N/A |
INTRINSIC |
SR
|
758 |
858 |
3.93e-50 |
SMART |
low complexity region
|
936 |
957 |
N/A |
INTRINSIC |
low complexity region
|
981 |
1004 |
N/A |
INTRINSIC |
low complexity region
|
1018 |
1035 |
N/A |
INTRINSIC |
low complexity region
|
1218 |
1230 |
N/A |
INTRINSIC |
low complexity region
|
1357 |
1364 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207310
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208109
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.5%
|
Validation Efficiency |
97% (75/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
A |
T |
12: 81,468,198 (GRCm39) |
I141K |
probably damaging |
Het |
Adgrb1 |
A |
G |
15: 74,459,978 (GRCm39) |
E537G |
probably damaging |
Het |
Asic3 |
C |
T |
5: 24,620,895 (GRCm39) |
A259V |
probably damaging |
Het |
Bcar1 |
G |
A |
8: 112,447,552 (GRCm39) |
Q142* |
probably null |
Het |
Bcas3 |
T |
C |
11: 85,400,294 (GRCm39) |
V200A |
probably damaging |
Het |
Cd302 |
A |
T |
2: 60,102,493 (GRCm39) |
I42N |
probably benign |
Het |
Colec12 |
C |
A |
18: 9,848,984 (GRCm39) |
N387K |
probably damaging |
Het |
Copa |
T |
A |
1: 171,946,888 (GRCm39) |
I1032N |
probably damaging |
Het |
D630003M21Rik |
G |
C |
2: 158,038,059 (GRCm39) |
T1129S |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,171,420 (GRCm39) |
T916I |
possibly damaging |
Het |
Dnajb13 |
C |
T |
7: 100,153,199 (GRCm39) |
A241T |
probably damaging |
Het |
Dyrk4 |
G |
T |
6: 126,862,300 (GRCm39) |
N397K |
possibly damaging |
Het |
Eftud2 |
T |
A |
11: 102,761,003 (GRCm39) |
Y114F |
probably benign |
Het |
Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
Epm2a |
A |
G |
10: 11,266,597 (GRCm39) |
D114G |
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,286,357 (GRCm39) |
|
probably null |
Het |
Fam135a |
G |
A |
1: 24,068,241 (GRCm39) |
T706I |
probably benign |
Het |
Fasn |
A |
G |
11: 120,702,121 (GRCm39) |
V1845A |
probably benign |
Het |
Fscn3 |
A |
G |
6: 28,430,595 (GRCm39) |
E255G |
probably damaging |
Het |
Galnt7 |
A |
T |
8: 57,998,397 (GRCm39) |
Y311N |
probably damaging |
Het |
Grid1 |
T |
C |
14: 34,544,579 (GRCm39) |
L50P |
probably damaging |
Het |
Hepacam2 |
A |
G |
6: 3,475,933 (GRCm39) |
F331L |
probably damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kif1a |
T |
C |
1: 92,953,449 (GRCm39) |
Y1245C |
probably damaging |
Het |
Ltbp3 |
T |
C |
19: 5,806,707 (GRCm39) |
F1022L |
probably damaging |
Het |
Med16 |
G |
T |
10: 79,735,951 (GRCm39) |
T399N |
probably damaging |
Het |
Mfsd14a |
A |
T |
3: 116,439,155 (GRCm39) |
|
probably benign |
Het |
Myh7b |
G |
A |
2: 155,465,186 (GRCm39) |
V681I |
probably benign |
Het |
Ndc1 |
A |
G |
4: 107,247,419 (GRCm39) |
E409G |
probably benign |
Het |
Necap2 |
A |
G |
4: 140,798,912 (GRCm39) |
|
probably benign |
Het |
Or2a57 |
T |
A |
6: 43,212,629 (GRCm39) |
L29H |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,691 (GRCm39) |
M197K |
probably benign |
Het |
Or7g29 |
C |
T |
9: 19,286,841 (GRCm39) |
S112N |
probably benign |
Het |
Parp12 |
G |
A |
6: 39,094,744 (GRCm39) |
T117I |
probably benign |
Het |
Pars2 |
C |
A |
4: 106,511,407 (GRCm39) |
C396* |
probably null |
Het |
Prg4 |
A |
T |
1: 150,330,297 (GRCm39) |
|
probably benign |
Het |
Prkg2 |
G |
A |
5: 99,114,492 (GRCm39) |
T523I |
probably damaging |
Het |
Prph |
T |
A |
15: 98,955,308 (GRCm39) |
L425Q |
probably damaging |
Het |
Ranbp9 |
A |
G |
13: 43,567,552 (GRCm39) |
Y549H |
probably damaging |
Het |
Rbm12 |
A |
T |
2: 155,937,489 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,549,183 (GRCm39) |
Y75C |
probably damaging |
Het |
Rock2 |
G |
A |
12: 16,990,408 (GRCm39) |
R110H |
probably damaging |
Het |
Samd1 |
G |
A |
8: 84,726,346 (GRCm39) |
E468K |
probably damaging |
Het |
Samd11 |
T |
A |
4: 156,333,922 (GRCm39) |
Q173L |
probably damaging |
Het |
Scgb2b20 |
C |
A |
7: 33,065,151 (GRCm39) |
G37V |
probably damaging |
Het |
Sf1 |
C |
A |
19: 6,425,694 (GRCm39) |
|
probably benign |
Het |
Slc17a5 |
T |
A |
9: 78,481,997 (GRCm39) |
H183L |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,713,288 (GRCm39) |
V31A |
probably benign |
Het |
Smgc |
T |
A |
15: 91,725,657 (GRCm39) |
S13T |
probably benign |
Het |
Snapin |
A |
G |
3: 90,398,092 (GRCm39) |
|
probably benign |
Het |
Spata31e4 |
C |
G |
13: 50,857,275 (GRCm39) |
P971R |
probably benign |
Het |
Strn3 |
T |
C |
12: 51,696,954 (GRCm39) |
E259G |
probably benign |
Het |
Tbc1d32 |
A |
G |
10: 56,072,932 (GRCm39) |
F238L |
possibly damaging |
Het |
Tbck |
G |
A |
3: 132,392,729 (GRCm39) |
V57M |
possibly damaging |
Het |
Tgm3 |
A |
G |
2: 129,883,875 (GRCm39) |
D511G |
probably benign |
Het |
Tlr5 |
T |
C |
1: 182,801,461 (GRCm39) |
V241A |
probably benign |
Het |
Tmem181c-ps |
A |
G |
17: 6,887,754 (GRCm39) |
|
noncoding transcript |
Het |
Tnfrsf1a |
G |
A |
6: 125,335,047 (GRCm39) |
C168Y |
probably damaging |
Het |
Tph2 |
G |
T |
10: 115,018,675 (GRCm39) |
L79I |
possibly damaging |
Het |
Tsc1 |
G |
A |
2: 28,551,702 (GRCm39) |
|
probably null |
Het |
Ttc14 |
A |
T |
3: 33,857,298 (GRCm39) |
M215L |
probably benign |
Het |
Ube3c |
A |
G |
5: 29,802,083 (GRCm39) |
N120S |
probably benign |
Het |
Ubr2 |
A |
T |
17: 47,241,371 (GRCm39) |
W1728R |
probably damaging |
Het |
Vnn1 |
A |
G |
10: 23,776,602 (GRCm39) |
T318A |
probably benign |
Het |
Washc2 |
T |
C |
6: 116,235,610 (GRCm39) |
V941A |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,091,809 (GRCm39) |
V510A |
probably damaging |
Het |
Wdsub1 |
A |
T |
2: 59,693,188 (GRCm39) |
V272E |
possibly damaging |
Het |
Xylt1 |
A |
C |
7: 117,236,862 (GRCm39) |
D537A |
probably benign |
Het |
Zfp57 |
A |
G |
17: 37,321,022 (GRCm39) |
N292S |
possibly damaging |
Het |
|
Other mutations in Ssc5d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00325:Ssc5d
|
APN |
7 |
4,947,480 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL00939:Ssc5d
|
APN |
7 |
4,939,280 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01109:Ssc5d
|
APN |
7 |
4,940,111 (GRCm39) |
nonsense |
probably null |
|
IGL01409:Ssc5d
|
APN |
7 |
4,945,808 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01880:Ssc5d
|
APN |
7 |
4,936,218 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02013:Ssc5d
|
APN |
7 |
4,946,835 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02227:Ssc5d
|
APN |
7 |
4,936,453 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02963:Ssc5d
|
APN |
7 |
4,947,326 (GRCm39) |
missense |
probably benign |
0.02 |
D4043:Ssc5d
|
UTSW |
7 |
4,946,982 (GRCm39) |
missense |
possibly damaging |
0.70 |
D4216:Ssc5d
|
UTSW |
7 |
4,946,982 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0104:Ssc5d
|
UTSW |
7 |
4,939,285 (GRCm39) |
missense |
probably benign |
0.41 |
R0115:Ssc5d
|
UTSW |
7 |
4,930,880 (GRCm39) |
unclassified |
probably benign |
|
R0201:Ssc5d
|
UTSW |
7 |
4,947,662 (GRCm39) |
missense |
probably benign |
|
R0365:Ssc5d
|
UTSW |
7 |
4,931,466 (GRCm39) |
nonsense |
probably null |
|
R0485:Ssc5d
|
UTSW |
7 |
4,940,470 (GRCm39) |
missense |
probably damaging |
0.99 |
R0967:Ssc5d
|
UTSW |
7 |
4,947,342 (GRCm39) |
nonsense |
probably null |
|
R1607:Ssc5d
|
UTSW |
7 |
4,947,042 (GRCm39) |
missense |
probably benign |
0.25 |
R1639:Ssc5d
|
UTSW |
7 |
4,931,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1801:Ssc5d
|
UTSW |
7 |
4,939,606 (GRCm39) |
missense |
probably benign |
0.05 |
R1867:Ssc5d
|
UTSW |
7 |
4,931,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R1999:Ssc5d
|
UTSW |
7 |
4,945,713 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2007:Ssc5d
|
UTSW |
7 |
4,931,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R2084:Ssc5d
|
UTSW |
7 |
4,940,011 (GRCm39) |
missense |
probably benign |
0.01 |
R2234:Ssc5d
|
UTSW |
7 |
4,946,849 (GRCm39) |
missense |
probably benign |
|
R2259:Ssc5d
|
UTSW |
7 |
4,946,915 (GRCm39) |
missense |
probably benign |
0.01 |
R2567:Ssc5d
|
UTSW |
7 |
4,939,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R2879:Ssc5d
|
UTSW |
7 |
4,939,906 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3782:Ssc5d
|
UTSW |
7 |
4,945,790 (GRCm39) |
missense |
probably benign |
0.00 |
R3875:Ssc5d
|
UTSW |
7 |
4,930,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R4322:Ssc5d
|
UTSW |
7 |
4,931,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R4331:Ssc5d
|
UTSW |
7 |
4,945,725 (GRCm39) |
missense |
probably benign |
0.00 |
R4334:Ssc5d
|
UTSW |
7 |
4,946,663 (GRCm39) |
missense |
probably benign |
|
R4430:Ssc5d
|
UTSW |
7 |
4,946,663 (GRCm39) |
missense |
probably benign |
|
R4619:Ssc5d
|
UTSW |
7 |
4,932,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R5106:Ssc5d
|
UTSW |
7 |
4,939,664 (GRCm39) |
missense |
probably benign |
0.31 |
R5174:Ssc5d
|
UTSW |
7 |
4,930,970 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5553:Ssc5d
|
UTSW |
7 |
4,939,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R5649:Ssc5d
|
UTSW |
7 |
4,929,517 (GRCm39) |
critical splice donor site |
probably null |
|
R5786:Ssc5d
|
UTSW |
7 |
4,939,817 (GRCm39) |
missense |
probably benign |
0.00 |
R6059:Ssc5d
|
UTSW |
7 |
4,945,743 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6163:Ssc5d
|
UTSW |
7 |
4,930,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Ssc5d
|
UTSW |
7 |
4,940,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R6341:Ssc5d
|
UTSW |
7 |
4,939,664 (GRCm39) |
missense |
probably benign |
0.31 |
R6613:Ssc5d
|
UTSW |
7 |
4,936,292 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7180:Ssc5d
|
UTSW |
7 |
4,939,600 (GRCm39) |
missense |
probably benign |
0.17 |
R7576:Ssc5d
|
UTSW |
7 |
4,931,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7602:Ssc5d
|
UTSW |
7 |
4,945,745 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7609:Ssc5d
|
UTSW |
7 |
4,930,575 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7691:Ssc5d
|
UTSW |
7 |
4,947,168 (GRCm39) |
missense |
probably benign |
0.29 |
R7759:Ssc5d
|
UTSW |
7 |
4,940,529 (GRCm39) |
nonsense |
probably null |
|
R8480:Ssc5d
|
UTSW |
7 |
4,939,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R9029:Ssc5d
|
UTSW |
7 |
4,930,919 (GRCm39) |
missense |
probably damaging |
0.97 |
R9163:Ssc5d
|
UTSW |
7 |
4,936,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R9178:Ssc5d
|
UTSW |
7 |
4,930,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R9181:Ssc5d
|
UTSW |
7 |
4,945,814 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9382:Ssc5d
|
UTSW |
7 |
4,930,283 (GRCm39) |
critical splice donor site |
probably null |
|
R9489:Ssc5d
|
UTSW |
7 |
4,940,599 (GRCm39) |
missense |
probably benign |
0.02 |
R9626:Ssc5d
|
UTSW |
7 |
4,946,568 (GRCm39) |
missense |
probably benign |
|
R9630:Ssc5d
|
UTSW |
7 |
4,939,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Ssc5d
|
UTSW |
7 |
4,932,367 (GRCm39) |
missense |
probably benign |
0.07 |
X0063:Ssc5d
|
UTSW |
7 |
4,939,286 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ssc5d
|
UTSW |
7 |
4,931,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACTGACCTCTGACCGATC -3'
(R):5'- TGGAGTCAGCTCTGAGGTAG -3'
Sequencing Primer
(F):5'- TCCAGGTTCACCAAGGAAGC -3'
(R):5'- TAGGAGAAAGCCTGCTCACTTCTG -3'
|
Posted On |
2016-02-04 |