Incidental Mutation 'R9630:Ssc5d'
| ID |
725427 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4939426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 621
(P621S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057612]
[ENSMUST00000208109]
|
| AlphaFold |
Q8BV57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057612
AA Change: P621S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: P621S
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
A |
G |
6: 48,952,756 (GRCm39) |
D227G |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,907,540 (GRCm39) |
M274T |
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,456,757 (GRCm39) |
T128A |
possibly damaging |
Het |
| Bcr |
T |
A |
10: 74,966,950 (GRCm39) |
L519Q |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,587,571 (GRCm39) |
S306R |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,855 (GRCm39) |
E330G |
probably damaging |
Het |
| Ccdc8 |
A |
G |
7: 16,728,733 (GRCm39) |
K74R |
possibly damaging |
Het |
| Cdc42ep2 |
C |
A |
19: 5,968,363 (GRCm39) |
G114V |
|
Het |
| Celsr3 |
T |
C |
9: 108,704,296 (GRCm39) |
S260P |
probably benign |
Het |
| Clic4 |
G |
A |
4: 134,944,476 (GRCm39) |
T233I |
probably damaging |
Het |
| Clip2 |
C |
A |
5: 134,531,934 (GRCm39) |
D624Y |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,393,281 (GRCm39) |
S221P |
probably benign |
Het |
| Creb3l2 |
G |
T |
6: 37,356,808 (GRCm39) |
S86R |
possibly damaging |
Het |
| Cspp1 |
G |
A |
1: 10,108,292 (GRCm39) |
|
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
| Efnb2 |
T |
C |
8: 8,670,617 (GRCm39) |
S328G |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,518,844 (GRCm39) |
L335P |
possibly damaging |
Het |
| Eml4 |
T |
A |
17: 83,717,572 (GRCm39) |
V48D |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,147,605 (GRCm39) |
V3879G |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,624 (GRCm39) |
L181P |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,926,438 (GRCm38) |
Y1827* |
probably null |
Het |
| Fuca2 |
A |
T |
10: 13,378,820 (GRCm39) |
Y71F |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,741,349 (GRCm39) |
H1463N |
probably damaging |
Het |
| Ifitm10 |
C |
T |
7: 141,924,909 (GRCm39) |
A48T |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,666,591 (GRCm39) |
D385G |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,512,971 (GRCm39) |
|
probably null |
Het |
| Kdm7a |
A |
T |
6: 39,150,239 (GRCm39) |
S178T |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,347,516 (GRCm39) |
M31K |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,407,988 (GRCm39) |
C3159S |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,302,470 (GRCm39) |
V346A |
probably damaging |
Het |
| Nfkbib |
A |
T |
7: 28,461,304 (GRCm39) |
Y114* |
probably null |
Het |
| Nr2c1 |
T |
A |
10: 93,998,285 (GRCm39) |
D76E |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,943,397 (GRCm39) |
R4251C |
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,653 (GRCm39) |
I174T |
probably damaging |
Het |
| Or4a74 |
C |
A |
2: 89,440,349 (GRCm39) |
M32I |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,493 (GRCm39) |
M186V |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,410 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8h7 |
A |
C |
2: 86,720,956 (GRCm39) |
S188A |
probably damaging |
Het |
| Pced1a |
A |
T |
2: 130,261,109 (GRCm39) |
I416N |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,374,443 (GRCm39) |
D1897E |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,591 (GRCm39) |
F802I |
probably benign |
Het |
| Pik3c2g |
C |
A |
6: 139,599,237 (GRCm39) |
Q118K |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,947,147 (GRCm39) |
M1009V |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,370,550 (GRCm39) |
D59E |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,564,919 (GRCm39) |
D152G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,020,810 (GRCm39) |
V611A |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,596,408 (GRCm39) |
S811P |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,316,049 (GRCm39) |
P1172S |
probably damaging |
Het |
| Sel1l3 |
T |
G |
5: 53,342,117 (GRCm39) |
N368H |
possibly damaging |
Het |
| Sele |
C |
A |
1: 163,879,523 (GRCm39) |
P352Q |
probably damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,301,852 (GRCm39) |
T268S |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,722 (GRCm39) |
N1152K |
probably benign |
Het |
| Slc16a13 |
T |
C |
11: 70,108,597 (GRCm39) |
E411G |
possibly damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,379,390 (GRCm39) |
N459S |
possibly damaging |
Het |
| Srpk1 |
C |
A |
17: 28,819,404 (GRCm39) |
K268N |
probably benign |
Het |
| Ssbp3 |
A |
G |
4: 106,895,426 (GRCm39) |
Y258C |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,077,781 (GRCm39) |
Q61R |
unknown |
Het |
| Strn3 |
G |
A |
12: 51,657,013 (GRCm39) |
T755I |
probably damaging |
Het |
| Taf4b |
C |
G |
18: 14,930,077 (GRCm39) |
P150A |
probably damaging |
Het |
| Tmem236 |
T |
A |
2: 14,223,815 (GRCm39) |
H201Q |
probably benign |
Het |
| Top3b |
A |
G |
16: 16,710,354 (GRCm39) |
E728G |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,409 (GRCm39) |
P449L |
probably damaging |
Het |
| Ugt2b36 |
C |
T |
5: 87,239,773 (GRCm39) |
G204D |
possibly damaging |
Het |
| Vldlr |
A |
T |
19: 27,207,623 (GRCm39) |
Q37L |
probably damaging |
Het |
| Zfat |
A |
T |
15: 67,990,793 (GRCm39) |
I1031N |
probably benign |
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 |
|
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 |
|
|
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'- ACGAGACCTTCCCCATGATC -3'
(R):5'- TCAGCCTTACAGTGGTATGTGAG -3'
Sequencing Primer
(F):5'- ACGAGACCTTCCCCATGATCTTATC -3'
(R):5'- ACAGTGGTATGTGAGGTCTGCC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation