Incidental Mutation 'R7759:Ssc5d'
ID |
597721 |
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 |
045815-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7759 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 4940529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 881
(K881*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057612]
[ENSMUST00000208109]
|
AlphaFold |
Q8BV57 |
Predicted Effect |
probably null
Transcript: ENSMUST00000057612
AA Change: K881*
|
SMART Domains |
Protein: ENSMUSP00000052126 Gene: ENSMUSG00000035279 AA Change: K881*
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 |
probably benign
Transcript: ENSMUST00000208109
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
T |
16: 4,682,514 (GRCm39) |
G215V |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,594,683 (GRCm39) |
G652C |
probably damaging |
Het |
Adck1 |
G |
A |
12: 88,368,887 (GRCm39) |
A122T |
possibly damaging |
Het |
Akap1 |
A |
C |
11: 88,736,659 (GRCm39) |
M34R |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,147,030 (GRCm39) |
R695C |
probably damaging |
Het |
Apon |
T |
A |
10: 128,090,384 (GRCm39) |
W21R |
probably benign |
Het |
Arhgef16 |
T |
C |
4: 154,371,432 (GRCm39) |
T254A |
probably benign |
Het |
Arid5b |
T |
A |
10: 67,933,632 (GRCm39) |
S757C |
probably damaging |
Het |
B020004C17Rik |
A |
C |
14: 57,254,242 (GRCm39) |
I122L |
possibly damaging |
Het |
Bckdhb |
T |
G |
9: 83,892,379 (GRCm39) |
V270G |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,821,145 (GRCm39) |
Y1146H |
probably benign |
Het |
Carmil2 |
A |
G |
8: 106,423,668 (GRCm39) |
D1214G |
possibly damaging |
Het |
Ccdc142 |
T |
C |
6: 83,084,912 (GRCm39) |
V636A |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,704,178 (GRCm39) |
|
probably null |
Het |
Csmd3 |
A |
G |
15: 47,561,569 (GRCm39) |
S1336P |
|
Het |
Cubn |
A |
G |
2: 13,352,961 (GRCm39) |
Y1926H |
probably damaging |
Het |
Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
Eme1 |
A |
T |
11: 94,536,666 (GRCm39) |
Y504* |
probably null |
Het |
Enah |
G |
A |
1: 181,746,009 (GRCm39) |
A687V |
unknown |
Het |
Endou |
A |
C |
15: 97,611,747 (GRCm39) |
V339G |
probably damaging |
Het |
Ephb6 |
G |
A |
6: 41,591,539 (GRCm39) |
R232H |
probably benign |
Het |
Ephx2 |
G |
A |
14: 66,326,968 (GRCm39) |
A409V |
possibly damaging |
Het |
Esd |
T |
A |
14: 74,983,007 (GRCm39) |
C219* |
probably null |
Het |
Fscb |
A |
T |
12: 64,520,866 (GRCm39) |
M200K |
probably benign |
Het |
Gabra6 |
A |
T |
11: 42,208,508 (GRCm39) |
V108D |
probably damaging |
Het |
Gm11555 |
A |
G |
11: 99,540,568 (GRCm39) |
V137A |
unknown |
Het |
Gpld1 |
A |
G |
13: 25,146,383 (GRCm39) |
D209G |
probably damaging |
Het |
Ikzf1 |
T |
A |
11: 11,719,256 (GRCm39) |
I408N |
probably damaging |
Het |
Itgb4 |
A |
G |
11: 115,894,536 (GRCm39) |
R1364G |
possibly damaging |
Het |
Kif26b |
A |
C |
1: 178,506,509 (GRCm39) |
K195T |
probably damaging |
Het |
Mfsd12 |
T |
C |
10: 81,199,427 (GRCm39) |
W440R |
probably benign |
Het |
Mtrr |
C |
T |
13: 68,718,146 (GRCm39) |
E373K |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,058,317 (GRCm39) |
V1293E |
probably damaging |
Het |
Myof |
C |
A |
19: 37,928,346 (GRCm39) |
A1068S |
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,412,672 (GRCm39) |
D720G |
probably damaging |
Het |
Nova2 |
G |
T |
7: 18,692,176 (GRCm39) |
G435V |
|
Het |
Oacyl |
T |
A |
18: 65,843,631 (GRCm39) |
D109E |
probably damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,463 (GRCm39) |
M163L |
probably benign |
Het |
Or56a4 |
G |
A |
7: 104,806,232 (GRCm39) |
S219F |
probably damaging |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Pdzd8 |
C |
A |
19: 59,288,358 (GRCm39) |
R1014L |
probably damaging |
Het |
Ppm1h |
T |
G |
10: 122,740,018 (GRCm39) |
D364E |
probably benign |
Het |
Rigi |
C |
A |
4: 40,225,104 (GRCm39) |
A298S |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,415,107 (GRCm39) |
N2002D |
probably benign |
Het |
Sall1 |
C |
T |
8: 89,768,979 (GRCm39) |
|
probably null |
Het |
Scn10a |
C |
T |
9: 119,477,198 (GRCm39) |
W728* |
probably null |
Het |
Setdb2 |
G |
T |
14: 59,656,813 (GRCm39) |
T168K |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,137,276 (GRCm39) |
I97V |
probably benign |
Het |
Slc8a3 |
A |
T |
12: 81,361,325 (GRCm39) |
M498K |
probably benign |
Het |
Smpd4 |
A |
T |
16: 17,456,497 (GRCm39) |
E362D |
probably damaging |
Het |
Strn4 |
A |
G |
7: 16,564,309 (GRCm39) |
E313G |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,890 (GRCm39) |
N306I |
possibly damaging |
Het |
Tdrd6 |
G |
T |
17: 43,935,730 (GRCm39) |
R1773S |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,897,321 (GRCm39) |
E729G |
probably damaging |
Het |
Tnfrsf23 |
G |
A |
7: 143,224,572 (GRCm39) |
T135I |
probably damaging |
Het |
Tollip |
A |
G |
7: 141,438,276 (GRCm39) |
M218T |
probably benign |
Het |
Tyk2 |
A |
T |
9: 21,031,554 (GRCm39) |
|
probably null |
Het |
Ubr2 |
G |
A |
17: 47,296,974 (GRCm39) |
R269C |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,185,806 (GRCm39) |
M1459K |
possibly damaging |
Het |
Upf1 |
A |
G |
8: 70,786,730 (GRCm39) |
V929A |
probably benign |
Het |
Usp48 |
T |
C |
4: 137,321,763 (GRCm39) |
S24P |
probably benign |
Het |
Vmn1r214 |
G |
A |
13: 23,218,631 (GRCm39) |
E42K |
not run |
Het |
Vmn1r83 |
G |
T |
7: 12,055,360 (GRCm39) |
D232E |
probably benign |
Het |
Vmn2r25 |
C |
T |
6: 123,800,339 (GRCm39) |
V668I |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,463,991 (GRCm39) |
I281T |
probably damaging |
Het |
Ywhag |
A |
T |
5: 135,940,043 (GRCm39) |
Y184N |
probably damaging |
Het |
Zdbf2 |
A |
C |
1: 63,347,535 (GRCm39) |
E1971D |
possibly damaging |
Het |
Zfp568 |
G |
A |
7: 29,722,839 (GRCm39) |
A595T |
possibly damaging |
Het |
Zfy2 |
T |
C |
Y: 2,117,083 (GRCm39) |
D248G |
probably benign |
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 |
R4794:Ssc5d
|
UTSW |
7 |
4,946,744 (GRCm39) |
missense |
probably benign |
|
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 |
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'- AGCGTTGGTGTCTAAAGGTC -3'
(R):5'- AGAGCTCCACCATTTTGACTC -3'
Sequencing Primer
(F):5'- TGGTGTCTAAAGGTCTAAGGAGC -3'
(R):5'- TGACTCTGACCTCATCACACATG -3'
|
Posted On |
2019-11-26 |