Incidental Mutation 'R5786:Ssc5d'
ID |
448018 |
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 # |
R5786 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4939817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 751
(V751A)
|
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: V751A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000052126 Gene: ENSMUSG00000035279 AA Change: V751A
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
A |
6: 40,945,122 (GRCm39) |
D200E |
probably damaging |
Het |
4930578I06Rik |
C |
A |
14: 64,210,691 (GRCm39) |
R179L |
probably damaging |
Het |
Abhd5 |
A |
G |
9: 122,192,868 (GRCm39) |
|
probably null |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Apob |
C |
T |
12: 8,065,304 (GRCm39) |
T4091I |
possibly damaging |
Het |
Avil |
G |
A |
10: 126,852,368 (GRCm39) |
|
probably null |
Het |
Cacna1a |
T |
C |
8: 85,142,350 (GRCm39) |
|
probably benign |
Het |
Capn7 |
T |
C |
14: 31,082,102 (GRCm39) |
L436P |
probably damaging |
Het |
Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,244 (GRCm39) |
S150P |
probably damaging |
Het |
Cd1d1 |
T |
C |
3: 86,906,095 (GRCm39) |
N60S |
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,446,641 (GRCm39) |
|
probably null |
Het |
Col15a1 |
A |
G |
4: 47,280,865 (GRCm39) |
E753G |
possibly damaging |
Het |
Col1a2 |
C |
T |
6: 4,530,223 (GRCm39) |
R699W |
unknown |
Het |
Cracd |
T |
C |
5: 77,014,043 (GRCm39) |
|
probably null |
Het |
Csf2rb |
T |
C |
15: 78,233,155 (GRCm39) |
Y821H |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,799,284 (GRCm39) |
I301T |
possibly damaging |
Het |
Dpp3 |
C |
T |
19: 4,968,350 (GRCm39) |
G241R |
possibly damaging |
Het |
Dpyd |
G |
T |
3: 119,220,886 (GRCm39) |
M952I |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,654,628 (GRCm39) |
I111L |
possibly damaging |
Het |
Ect2 |
A |
G |
3: 27,201,102 (GRCm39) |
F123L |
probably damaging |
Het |
Ehmt2 |
G |
C |
17: 35,129,719 (GRCm39) |
D961H |
probably damaging |
Het |
Esp1 |
A |
G |
17: 41,041,809 (GRCm39) |
I34V |
probably benign |
Het |
Fam171b |
G |
A |
2: 83,708,580 (GRCm39) |
V361I |
probably benign |
Het |
Flnc |
T |
A |
6: 29,459,536 (GRCm39) |
Y2545* |
probably null |
Het |
Fmo4 |
C |
T |
1: 162,631,286 (GRCm39) |
G227D |
probably benign |
Het |
Grn |
C |
T |
11: 102,324,869 (GRCm39) |
Q153* |
probably null |
Het |
H2-DMb1 |
T |
G |
17: 34,372,408 (GRCm39) |
S12R |
possibly damaging |
Het |
Ica1 |
G |
T |
6: 8,672,391 (GRCm39) |
N203K |
possibly damaging |
Het |
Kdm4c |
C |
A |
4: 74,277,722 (GRCm39) |
T792K |
probably damaging |
Het |
Kif19a |
T |
A |
11: 114,670,049 (GRCm39) |
Y81* |
probably null |
Het |
Kifc2 |
G |
T |
15: 76,548,578 (GRCm39) |
C440F |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,537,268 (GRCm39) |
T234A |
probably benign |
Het |
Lysmd2 |
C |
A |
9: 75,542,885 (GRCm39) |
P164Q |
probably benign |
Het |
Maea |
T |
A |
5: 33,526,027 (GRCm39) |
D234E |
probably benign |
Het |
Map4k1 |
T |
A |
7: 28,699,445 (GRCm39) |
V572E |
probably damaging |
Het |
Med6 |
C |
T |
12: 81,620,733 (GRCm39) |
G166R |
probably null |
Het |
Mtmr10 |
T |
C |
7: 63,987,458 (GRCm39) |
I666T |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,262,887 (GRCm39) |
K1777M |
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Obscn |
A |
G |
11: 58,923,517 (GRCm39) |
S6461P |
probably damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,061 (GRCm39) |
M1T |
probably null |
Het |
Osbpl7 |
T |
A |
11: 96,956,658 (GRCm39) |
V567E |
probably damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,506,921 (GRCm39) |
D281V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpl24 |
C |
A |
16: 55,787,516 (GRCm39) |
H59N |
possibly damaging |
Het |
Rtl1 |
G |
A |
12: 109,559,053 (GRCm39) |
L929F |
possibly damaging |
Het |
Runx3 |
C |
T |
4: 134,890,575 (GRCm39) |
T159I |
probably damaging |
Het |
Serpine2 |
T |
C |
1: 79,794,637 (GRCm39) |
I99V |
probably benign |
Het |
Slc12a6 |
C |
A |
2: 112,115,067 (GRCm39) |
P12Q |
probably benign |
Het |
Slc25a18 |
T |
C |
6: 120,769,035 (GRCm39) |
L184P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,812,120 (GRCm39) |
D57G |
probably benign |
Het |
Spdye4c |
T |
A |
2: 128,438,761 (GRCm39) |
*340K |
probably null |
Het |
Srsf5 |
G |
A |
12: 80,996,311 (GRCm39) |
E162K |
possibly damaging |
Het |
Tcf3 |
T |
C |
10: 80,255,333 (GRCm39) |
N157S |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,082 (GRCm39) |
V71A |
probably benign |
Het |
Tex14 |
T |
C |
11: 87,405,121 (GRCm39) |
C678R |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,868,704 (GRCm39) |
K214* |
probably null |
Het |
Vps53 |
A |
G |
11: 75,953,833 (GRCm39) |
I659T |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,684,023 (GRCm39) |
C244* |
probably null |
Het |
Zfp933 |
T |
A |
4: 147,912,864 (GRCm39) |
|
probably null |
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 |
|
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'- TCACATACCACTGTAAGGCTG -3'
(R):5'- TGTCATCACAGACTGTTCCC -3'
Sequencing Primer
(F):5'- ACTGTAAGGCTGACCCCTAG -3'
(R):5'- AGACTGTTCCCCAGAGTCCAG -3'
|
Posted On |
2016-12-15 |