Incidental Mutation 'R7602:Ssc5d'
| ID |
588060 |
| 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 |
045674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4945745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 926
(W926R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057612]
[ENSMUST00000208109]
|
| AlphaFold |
Q8BV57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057612
AA Change: W926R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: W926R
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
A |
T |
1: 151,856,266 (GRCm39) |
Y34N |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,618,966 (GRCm39) |
V237A |
probably damaging |
Het |
| A2m |
A |
T |
6: 121,647,895 (GRCm39) |
D1129V |
possibly damaging |
Het |
| Aadacl2fm3 |
T |
C |
3: 59,784,697 (GRCm39) |
I390T |
probably benign |
Het |
| Abca7 |
A |
G |
10: 79,833,846 (GRCm39) |
|
probably null |
Het |
| Adam34l |
C |
T |
8: 44,079,703 (GRCm39) |
G174R |
probably damaging |
Het |
| Ap3m2 |
T |
C |
8: 23,282,770 (GRCm39) |
N256S |
probably benign |
Het |
| Atr |
C |
T |
9: 95,789,436 (GRCm39) |
H1531Y |
possibly damaging |
Het |
| Carmil3 |
C |
T |
14: 55,738,965 (GRCm39) |
A873V |
probably null |
Het |
| Casp8 |
A |
C |
1: 58,872,898 (GRCm39) |
K258T |
probably benign |
Het |
| Cast |
A |
G |
13: 74,885,084 (GRCm39) |
S222P |
probably benign |
Het |
| Cpsf7 |
C |
T |
19: 10,512,737 (GRCm39) |
P274S |
probably damaging |
Het |
| Ddx24 |
A |
T |
12: 103,382,519 (GRCm39) |
L688* |
probably null |
Het |
| Ddx59 |
A |
G |
1: 136,361,559 (GRCm39) |
I475V |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,081,093 (GRCm39) |
S376T |
possibly damaging |
Het |
| Dhx57 |
G |
T |
17: 80,582,290 (GRCm39) |
N438K |
probably benign |
Het |
| Dlk1 |
T |
A |
12: 109,421,551 (GRCm39) |
|
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,004 (GRCm39) |
M114V |
probably benign |
Het |
| Epha6 |
T |
C |
16: 59,595,931 (GRCm39) |
D920G |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,778,818 (GRCm39) |
V349E |
probably benign |
Het |
| Fam234b |
T |
C |
6: 135,202,241 (GRCm39) |
V321A |
possibly damaging |
Het |
| Gbp3 |
A |
G |
3: 142,274,822 (GRCm39) |
E383G |
probably benign |
Het |
| Gga2 |
T |
C |
7: 121,596,553 (GRCm39) |
N408S |
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,296,043 (GRCm39) |
V532A |
unknown |
Het |
| Hnrnpul2 |
T |
C |
19: 8,808,673 (GRCm39) |
Y712H |
probably damaging |
Het |
| Hpca |
T |
C |
4: 129,014,019 (GRCm39) |
|
probably benign |
Het |
| Ifitm3 |
A |
G |
7: 140,590,372 (GRCm39) |
F63L |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,153,135 (GRCm39) |
C252* |
probably null |
Het |
| Kank1 |
A |
T |
19: 25,399,525 (GRCm39) |
T940S |
probably benign |
Het |
| Klhl9 |
C |
A |
4: 88,640,646 (GRCm39) |
|
probably benign |
Het |
| Krt36 |
T |
C |
11: 99,993,786 (GRCm39) |
M351V |
probably benign |
Het |
| Mthfd2 |
T |
C |
6: 83,288,830 (GRCm39) |
N125D |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Ncoa2 |
A |
G |
1: 13,247,350 (GRCm39) |
S358P |
possibly damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,557,808 (GRCm39) |
H78R |
probably benign |
Het |
| Or10s1 |
T |
G |
9: 39,986,455 (GRCm39) |
L288R |
probably damaging |
Het |
| Or5k1 |
T |
C |
16: 58,617,343 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or5m13b |
A |
T |
2: 85,754,146 (GRCm39) |
Y178F |
probably damaging |
Het |
| Or9r3 |
A |
G |
10: 129,948,179 (GRCm39) |
M160T |
probably benign |
Het |
| Pabpc4 |
A |
T |
4: 123,186,685 (GRCm39) |
D302V |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,582,345 (GRCm39) |
S167R |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,914,109 (GRCm39) |
L517P |
probably benign |
Het |
| Rcan2 |
A |
G |
17: 44,328,689 (GRCm39) |
D86G |
probably benign |
Het |
| Ryk |
T |
C |
9: 102,775,715 (GRCm39) |
Y442H |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,623,271 (GRCm39) |
Q421K |
probably benign |
Het |
| Sirpa |
G |
T |
2: 129,451,072 (GRCm39) |
V111F |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,975,468 (GRCm39) |
T143S |
possibly damaging |
Het |
| Slc12a8 |
C |
A |
16: 33,445,494 (GRCm39) |
H463N |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Sptlc2 |
A |
G |
12: 87,388,463 (GRCm39) |
Y340H |
probably damaging |
Het |
| Tgfa |
A |
G |
6: 86,246,944 (GRCm39) |
E82G |
probably damaging |
Het |
| Thrsp |
A |
G |
7: 97,066,514 (GRCm39) |
I66T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,681,988 (GRCm39) |
E1003G |
unknown |
Het |
| Tube1 |
A |
T |
10: 39,018,262 (GRCm39) |
H113L |
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,681,053 (GRCm39) |
V117A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,380,606 (GRCm39) |
C2305Y |
probably damaging |
Het |
| Zbtb7a |
T |
G |
10: 80,980,010 (GRCm39) |
V68G |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,159,763 (GRCm39) |
D686E |
possibly damaging |
Het |
| Zscan4f |
G |
A |
7: 11,135,308 (GRCm39) |
S238N |
possibly 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 |
|
|
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 |
|
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'- AATGCACGCATTTGCTTTATGGG -3'
(R):5'- AGCTTGGAGCCCATCTCTGTAC -3'
Sequencing Primer
(F):5'- CACGCATTTGCTTTATGGGATAACC -3'
(R):5'- GAGCCCATCTCTGTACCCCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation