Incidental Mutation 'R5174:Ssc5d'
| ID |
398997 |
| 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 |
042754-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5174 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4930970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 184
(T184N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000057612
AA Change: T184N
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: T184N
| 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
|
| Meta Mutation Damage Score |
0.0859 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
T |
C |
10: 69,728,209 (GRCm39) |
S632P |
probably damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,366,504 (GRCm39) |
R451W |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,172 (GRCm39) |
D1394V |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,871,041 (GRCm39) |
I545N |
probably damaging |
Het |
| Cadps2 |
T |
A |
6: 23,287,742 (GRCm39) |
Y1181F |
probably damaging |
Het |
| Camkmt |
C |
A |
17: 85,759,665 (GRCm39) |
F268L |
probably benign |
Het |
| Casp14 |
C |
T |
10: 78,551,225 (GRCm39) |
G20D |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,831,353 (GRCm39) |
C61R |
probably damaging |
Het |
| Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
| Cers3 |
A |
T |
7: 66,434,616 (GRCm39) |
K203M |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,957 (GRCm39) |
F334S |
probably damaging |
Het |
| Cyp2b13 |
T |
A |
7: 25,788,118 (GRCm39) |
D415E |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,306,443 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,352,768 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
G |
A |
1: 46,282,509 (GRCm39) |
A2881T |
possibly damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,502,161 (GRCm39) |
H55R |
probably benign |
Het |
| Dnajc11 |
T |
C |
4: 152,064,441 (GRCm39) |
F531L |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,938,687 (GRCm39) |
F10L |
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,455 (GRCm39) |
F476S |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,910,866 (GRCm39) |
N1712S |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,448,893 (GRCm39) |
V1343A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,811,085 (GRCm39) |
P2468L |
probably benign |
Het |
| Gm5798 |
A |
G |
14: 41,070,620 (GRCm39) |
H10R |
possibly damaging |
Het |
| Gm7168 |
A |
G |
17: 14,168,717 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,255,983 (GRCm39) |
R19C |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,127,392 (GRCm39) |
F27S |
probably benign |
Het |
| Inhca |
C |
T |
9: 103,159,755 (GRCm39) |
|
probably null |
Het |
| Krba1 |
A |
G |
6: 48,389,229 (GRCm39) |
E548G |
probably damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,500 (GRCm39) |
S229P |
probably benign |
Het |
| Mgat5b |
A |
T |
11: 116,868,541 (GRCm39) |
Y488F |
probably benign |
Het |
| Mia3 |
T |
A |
1: 183,112,348 (GRCm39) |
K475* |
probably null |
Het |
| Mrpl53 |
C |
T |
6: 83,086,638 (GRCm39) |
T114M |
possibly damaging |
Het |
| Mrps35 |
T |
C |
6: 146,961,709 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,556 (GRCm39) |
I539F |
possibly damaging |
Het |
| Nedd1 |
T |
A |
10: 92,547,074 (GRCm39) |
T150S |
possibly damaging |
Het |
| Nox4 |
T |
G |
7: 86,972,974 (GRCm39) |
I327S |
probably benign |
Het |
| Nrk |
C |
G |
X: 137,887,528 (GRCm39) |
A1018G |
probably benign |
Het |
| Or4c102 |
T |
A |
2: 88,422,992 (GRCm39) |
N281K |
probably damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,043 (GRCm39) |
T248A |
possibly damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,119,610 (GRCm39) |
F121L |
probably benign |
Het |
| Or5w19 |
T |
A |
2: 87,698,755 (GRCm39) |
V140E |
possibly damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,372,600 (GRCm39) |
P2512S |
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,045,390 (GRCm39) |
|
probably null |
Het |
| Rnf170 |
T |
A |
8: 26,619,196 (GRCm39) |
M140K |
probably benign |
Het |
| Scaf4 |
A |
T |
16: 90,044,062 (GRCm39) |
I637K |
unknown |
Het |
| Sdccag8 |
A |
T |
1: 176,672,916 (GRCm39) |
T270S |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,158,575 (GRCm39) |
C1022R |
probably damaging |
Het |
| Sec63 |
T |
C |
10: 42,705,077 (GRCm39) |
|
probably benign |
Het |
| Serpinb3d |
C |
G |
1: 107,006,228 (GRCm39) |
E287Q |
possibly damaging |
Het |
| Silc1 |
A |
T |
12: 27,192,027 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcd2 |
A |
G |
11: 106,157,871 (GRCm39) |
|
probably benign |
Het |
| Sox15 |
A |
G |
11: 69,546,545 (GRCm39) |
Y116C |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 70,532,955 (GRCm39) |
S545P |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,572,773 (GRCm39) |
F228I |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 4,991,490 (GRCm39) |
N8408S |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,194,627 (GRCm39) |
T884P |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,839,506 (GRCm39) |
L1540H |
probably damaging |
Het |
| Ugt2b37 |
C |
A |
5: 87,399,739 (GRCm39) |
M256I |
probably benign |
Het |
| Vmn2r69 |
G |
A |
7: 85,064,739 (GRCm39) |
T49I |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,048 (GRCm39) |
I839L |
probably benign |
Het |
| Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
probably null |
Het |
| Zfp319 |
A |
T |
8: 96,054,797 (GRCm39) |
|
probably null |
Het |
| Zfp592 |
T |
C |
7: 80,688,073 (GRCm39) |
S1000P |
probably damaging |
Het |
| Zfp938 |
T |
C |
10: 82,061,838 (GRCm39) |
N261D |
possibly damaging |
Het |
| Zfp957 |
A |
G |
14: 79,450,828 (GRCm39) |
S324P |
unknown |
Het |
| Zswim6 |
G |
T |
13: 107,863,216 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- TTTCTCCGGCAAGCTAGTC -3'
(R):5'- ATCTGAAGGGGCACTGTGAAC -3'
Sequencing Primer
(F):5'- GAAATCCTCTGTCCAGAAATCTTTC -3'
(R):5'- TGAACGCCGGTCTCCTTAGAG -3'
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| Posted On |
2016-07-06 |
Incidental Mutation