Incidental Mutation 'R5106:Ssc5d'
| ID |
392623 |
| 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 |
042694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5106 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4939664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 700
(V700E)
|
| 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: V700E
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: V700E
| 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: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1qtnf2 |
G |
A |
11: 43,376,880 (GRCm39) |
R84Q |
possibly damaging |
Het |
| Carmil2 |
T |
A |
8: 106,420,638 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,416,005 (GRCm39) |
C107S |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,991,982 (GRCm39) |
M191V |
probably benign |
Het |
| Cope |
C |
A |
8: 70,763,097 (GRCm39) |
R213S |
possibly damaging |
Het |
| Ctcf |
T |
C |
8: 106,408,130 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,783,489 (GRCm39) |
Y647C |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,091,894 (GRCm39) |
Y920H |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fdps |
C |
A |
3: 89,006,710 (GRCm39) |
R127L |
probably damaging |
Het |
| G6pd2 |
C |
T |
5: 61,967,695 (GRCm39) |
T490I |
probably benign |
Het |
| Gm6401 |
A |
G |
14: 41,787,463 (GRCm39) |
M121T |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,947,329 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,002,073 (GRCm39) |
S310G |
possibly damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,031,983 (GRCm39) |
F500L |
probably damaging |
Het |
| Lgr4 |
A |
T |
2: 109,827,940 (GRCm39) |
H207L |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,310 (GRCm39) |
M105V |
probably benign |
Het |
| Macroh2a1 |
A |
G |
13: 56,236,106 (GRCm39) |
V213A |
possibly damaging |
Het |
| Map2k3 |
A |
G |
11: 60,832,708 (GRCm39) |
K18E |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,026,713 (GRCm39) |
D528V |
probably benign |
Het |
| Nedd4l |
C |
T |
18: 65,326,376 (GRCm39) |
T568M |
probably damaging |
Het |
| Nr3c1 |
A |
C |
18: 39,619,654 (GRCm39) |
I211S |
possibly damaging |
Het |
| Nudt5 |
C |
T |
2: 5,859,640 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
T |
A |
7: 106,464,595 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5d46 |
T |
C |
2: 88,170,454 (GRCm39) |
Y182H |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,177 (GRCm39) |
S191T |
probably benign |
Het |
| Pcid2 |
A |
T |
8: 13,129,648 (GRCm39) |
F326I |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,237,278 (GRCm39) |
I1336N |
probably damaging |
Het |
| Pomk |
T |
C |
8: 26,476,404 (GRCm39) |
D50G |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,027 (GRCm39) |
T706A |
probably benign |
Het |
| Rad54l |
G |
A |
4: 115,956,961 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,572,459 (GRCm39) |
D36G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,904,416 (GRCm39) |
S166P |
possibly damaging |
Het |
| Rnf183 |
C |
G |
4: 62,346,465 (GRCm39) |
R111P |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,265,395 (GRCm39) |
D327V |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,951,411 (GRCm39) |
Y156C |
probably damaging |
Het |
| Slc25a54 |
G |
T |
3: 109,020,180 (GRCm39) |
C398F |
probably benign |
Het |
| Slc39a2 |
A |
G |
14: 52,132,988 (GRCm39) |
*310W |
probably null |
Het |
| Slit3 |
T |
C |
11: 35,503,194 (GRCm39) |
C464R |
probably damaging |
Het |
| Smu1 |
A |
T |
4: 40,743,104 (GRCm39) |
F345I |
possibly damaging |
Het |
| Stxbp3 |
T |
C |
3: 108,702,243 (GRCm39) |
Y521C |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,492,356 (GRCm39) |
S1061P |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,860,630 (GRCm39) |
S103P |
probably damaging |
Het |
| Tmem221 |
A |
G |
8: 72,008,522 (GRCm39) |
F173L |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,948,106 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,395 (GRCm39) |
|
probably null |
Het |
| Vmn2r38 |
C |
A |
7: 9,078,169 (GRCm39) |
V738L |
possibly damaging |
Het |
| Zfp160 |
T |
A |
17: 21,247,023 (GRCm39) |
H524Q |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,259 (GRCm39) |
K202* |
probably null |
Het |
| Zfp985 |
T |
A |
4: 147,668,612 (GRCm39) |
S493R |
probably damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,725,198 (GRCm39) |
|
probably benign |
Het |
| Zwilch |
A |
C |
9: 64,060,866 (GRCm39) |
F329V |
probably 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 |
|
R4794:Ssc5d
|
UTSW |
7 |
4,946,744 (GRCm39) |
missense |
probably benign |
|
|
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'- CTCCCAAGAGTACCAAGAAGTGG -3'
(R):5'- TCTACTACTCACCTGATGGCAC -3'
Sequencing Primer
(F):5'- CCTGGGATGCCAACCAC -3'
(R):5'- ACAGGGACTCCAGCAGTTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation