Incidental Mutation 'R6163:Ssc5d'
ID |
489967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssc5d
|
Ensembl Gene |
ENSMUSG00000035279 |
Gene Name |
scavenger receptor cysteine rich family, 5 domains |
Synonyms |
A430110N23Rik, s5d-srcrb |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6163 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4930253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 111
(H111Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047309]
[ENSMUST00000057612]
[ENSMUST00000207506]
[ENSMUST00000207527]
[ENSMUST00000207687]
[ENSMUST00000208754]
|
AlphaFold |
Q8BV57 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047309
|
SMART Domains |
Protein: ENSMUSP00000045354 Gene: ENSMUSG00000035285
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
Pfam:Acetyltransf_1
|
101 |
186 |
4.1e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057612
AA Change: H111Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052126 Gene: ENSMUSG00000035279 AA Change: H111Q
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: ENSMUST00000207506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207527
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207687
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208754
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
C |
T |
5: 144,982,098 (GRCm39) |
Q228* |
probably null |
Het |
Asic5 |
A |
G |
3: 81,913,833 (GRCm39) |
N169S |
probably damaging |
Het |
Atad2b |
T |
A |
12: 5,004,593 (GRCm39) |
L374H |
probably benign |
Het |
Birc2 |
G |
A |
9: 7,819,036 (GRCm39) |
T544I |
probably benign |
Het |
Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
Cc2d2b |
C |
T |
19: 40,744,950 (GRCm39) |
T23I |
probably benign |
Het |
Ccdc137 |
G |
T |
11: 120,350,927 (GRCm39) |
R108L |
possibly damaging |
Het |
Cenpe |
T |
C |
3: 134,974,764 (GRCm39) |
I2308T |
probably damaging |
Het |
Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,308,620 (GRCm39) |
T103A |
probably benign |
Het |
Cpvl |
C |
A |
6: 53,850,503 (GRCm39) |
V445F |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,434,950 (GRCm39) |
S303P |
possibly damaging |
Het |
Cyp17a1 |
T |
A |
19: 46,657,761 (GRCm39) |
I264F |
possibly damaging |
Het |
Cyp51 |
T |
A |
5: 4,150,199 (GRCm39) |
I175F |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,723,828 (GRCm39) |
P695S |
possibly damaging |
Het |
Dlgap2 |
A |
T |
8: 14,896,641 (GRCm39) |
Q1039L |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,493,926 (GRCm39) |
L1694P |
probably benign |
Het |
Dnah2 |
G |
A |
11: 69,411,729 (GRCm39) |
Q298* |
probably null |
Het |
Dsg2 |
G |
T |
18: 20,731,726 (GRCm39) |
|
probably null |
Het |
Esr2 |
A |
C |
12: 76,168,643 (GRCm39) |
V522G |
probably damaging |
Het |
Fmo9 |
T |
A |
1: 166,494,962 (GRCm39) |
H262L |
probably benign |
Het |
Glb1l |
T |
A |
1: 75,178,051 (GRCm39) |
M373L |
probably benign |
Het |
Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
Gm37240 |
T |
A |
3: 84,423,092 (GRCm39) |
E213D |
probably damaging |
Het |
Gmip |
T |
A |
8: 70,270,022 (GRCm39) |
V675E |
probably benign |
Het |
Grb10 |
C |
A |
11: 11,893,932 (GRCm39) |
E330* |
probably null |
Het |
H2ac13 |
A |
T |
13: 21,900,859 (GRCm39) |
N90Y |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,005,736 (GRCm39) |
K778R |
probably damaging |
Het |
Ighv1-26 |
T |
C |
12: 114,752,416 (GRCm39) |
S4G |
probably benign |
Het |
Igkv3-3 |
T |
A |
6: 70,664,257 (GRCm39) |
V33E |
possibly damaging |
Het |
Itga2 |
C |
A |
13: 115,002,726 (GRCm39) |
G588V |
probably damaging |
Het |
Itpr1 |
C |
T |
6: 108,365,245 (GRCm39) |
H58Y |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,083,827 (GRCm39) |
D2365E |
possibly damaging |
Het |
Limk1 |
T |
C |
5: 134,686,809 (GRCm39) |
Y518C |
probably damaging |
Het |
Marchf6 |
G |
C |
15: 31,465,497 (GRCm39) |
H802Q |
probably benign |
Het |
Mark2 |
A |
G |
19: 7,268,126 (GRCm39) |
S26P |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,716,040 (GRCm39) |
L2074Q |
probably damaging |
Het |
Mrpl37 |
T |
C |
4: 106,921,793 (GRCm39) |
E174G |
possibly damaging |
Het |
Mtcl1 |
T |
C |
17: 66,686,326 (GRCm39) |
H860R |
probably benign |
Het |
Neurod1 |
A |
G |
2: 79,284,505 (GRCm39) |
F293L |
probably benign |
Het |
Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
Nwd2 |
C |
A |
5: 63,963,131 (GRCm39) |
A905E |
probably benign |
Het |
Or14a260 |
A |
T |
7: 85,985,592 (GRCm39) |
I4N |
possibly damaging |
Het |
Or1x6 |
T |
A |
11: 50,939,595 (GRCm39) |
Y220* |
probably null |
Het |
Or5b12b |
A |
C |
19: 12,861,472 (GRCm39) |
T76P |
probably damaging |
Het |
Or7e169 |
A |
G |
9: 19,757,024 (GRCm39) |
I297T |
probably benign |
Het |
Otop1 |
C |
A |
5: 38,445,234 (GRCm39) |
|
probably null |
Het |
Otp |
A |
G |
13: 95,012,288 (GRCm39) |
H4R |
probably damaging |
Het |
P4htm |
A |
C |
9: 108,459,150 (GRCm39) |
Y261D |
probably damaging |
Het |
Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
Plekhg1 |
A |
T |
10: 3,914,369 (GRCm39) |
R1419W |
probably damaging |
Het |
Pramel20 |
A |
G |
4: 143,298,605 (GRCm39) |
K183E |
probably damaging |
Het |
Prkd3 |
C |
A |
17: 79,273,784 (GRCm39) |
D491Y |
possibly damaging |
Het |
Prr11 |
A |
C |
11: 86,994,454 (GRCm39) |
L64R |
possibly damaging |
Het |
Pygo1 |
G |
T |
9: 72,851,980 (GRCm39) |
A56S |
probably damaging |
Het |
Rexo5 |
A |
G |
7: 119,404,470 (GRCm39) |
T189A |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,349,254 (GRCm39) |
H3784L |
possibly damaging |
Het |
Rps6ka5 |
T |
G |
12: 100,562,179 (GRCm39) |
|
probably null |
Het |
Slco2b1 |
T |
A |
7: 99,338,106 (GRCm39) |
I93F |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,894,690 (GRCm39) |
*408W |
probably null |
Het |
Sptbn1 |
C |
A |
11: 30,109,443 (GRCm39) |
E51* |
probably null |
Het |
Sult1c2 |
T |
C |
17: 54,280,981 (GRCm39) |
N41D |
probably benign |
Het |
Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
Tdo2 |
T |
C |
3: 81,882,710 (GRCm39) |
E2G |
possibly damaging |
Het |
Tff2 |
T |
C |
17: 31,363,152 (GRCm39) |
E24G |
probably benign |
Het |
Tjp2 |
C |
A |
19: 24,103,068 (GRCm39) |
|
probably null |
Het |
Tnfrsf1b |
A |
T |
4: 144,946,477 (GRCm39) |
D311E |
probably benign |
Het |
Usp15 |
G |
T |
10: 123,004,210 (GRCm39) |
N181K |
probably damaging |
Het |
Vmn1r175 |
T |
G |
7: 23,508,591 (GRCm39) |
E12A |
possibly damaging |
Het |
Vmn1r47 |
T |
C |
6: 89,999,773 (GRCm39) |
S302P |
probably damaging |
Het |
Vmn2r58 |
A |
G |
7: 41,486,825 (GRCm39) |
M690T |
probably benign |
Het |
Wee1 |
T |
A |
7: 109,734,858 (GRCm39) |
H465Q |
probably damaging |
Het |
Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
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'- ACCTTCGGGATGCTGAAGTG -3'
(R):5'- CTGGGATGCCTGAATTTCCTG -3'
Sequencing Primer
(F):5'- ATGCTGAAGTGGCCTGC -3'
(R):5'- CCTGTGGCTCAGAAATAAGTGCTC -3'
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Posted On |
2017-10-10 |