Incidental Mutation 'R5649:Ssc5d'
| ID |
441318 |
| 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 |
043170-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5649 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 4929517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047309]
[ENSMUST00000057612]
[ENSMUST00000116354]
[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 |
probably null
Transcript: ENSMUST00000057612
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
| 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: ENSMUST00000116354
|
| SMART Domains |
Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
34 |
56 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
90 |
112 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
118 |
140 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
146 |
168 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
1.69e-3 |
SMART |
|
low complexity region
|
225 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
289 |
309 |
1.38e2 |
SMART |
|
low complexity region
|
334 |
344 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
346 |
368 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
376 |
398 |
9.3e-1 |
SMART |
|
low complexity region
|
422 |
440 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
446 |
468 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
502 |
524 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
530 |
552 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
558 |
580 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
586 |
608 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
614 |
636 |
7.9e-4 |
SMART |
|
low complexity region
|
685 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
1000 |
N/A |
INTRINSIC |
|
low complexity region
|
1001 |
1018 |
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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,330,501 (GRCm39) |
T1385A |
probably damaging |
Het |
| Apc2 |
T |
A |
10: 80,149,972 (GRCm39) |
D1646E |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
| Atl3 |
C |
A |
19: 7,509,592 (GRCm39) |
T435N |
possibly damaging |
Het |
| Cdh22 |
G |
T |
2: 164,958,200 (GRCm39) |
T589K |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,661,082 (GRCm39) |
L561S |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,841,468 (GRCm39) |
D363G |
unknown |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,229 (GRCm39) |
D105G |
possibly damaging |
Het |
| Dennd4a |
C |
A |
9: 64,758,491 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 31,019,561 (GRCm39) |
K3878R |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,894,539 (GRCm39) |
S1900P |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,008,736 (GRCm39) |
L167P |
probably damaging |
Het |
| Ighd2-8 |
A |
G |
12: 113,414,487 (GRCm39) |
S1P |
possibly damaging |
Het |
| Kif28 |
A |
G |
1: 179,525,336 (GRCm39) |
|
probably null |
Het |
| Mrpl55 |
T |
A |
11: 59,095,397 (GRCm39) |
C20* |
probably null |
Het |
| Myo5a |
A |
G |
9: 75,079,001 (GRCm39) |
K920E |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,890,573 (GRCm39) |
R76G |
probably damaging |
Het |
| Or14a258 |
T |
C |
7: 86,035,521 (GRCm39) |
M116V |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,373 (GRCm39) |
R172G |
possibly damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
| Phf11c |
T |
C |
14: 59,622,981 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
A |
2: 156,093,688 (GRCm39) |
|
probably null |
Het |
| Plbd1 |
T |
A |
6: 136,593,987 (GRCm39) |
Y376F |
probably benign |
Het |
| Poglut1 |
A |
G |
16: 38,352,173 (GRCm39) |
V257A |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,106,623 (GRCm39) |
I3249T |
probably benign |
Het |
| Rgsl1 |
G |
A |
1: 153,701,639 (GRCm39) |
P272S |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,472 (GRCm39) |
Y197* |
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,012,693 (GRCm39) |
T232I |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,215 (GRCm39) |
Y128C |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,238,851 (GRCm39) |
L219F |
possibly damaging |
Het |
| Tmem30b |
G |
T |
12: 73,592,940 (GRCm39) |
N58K |
probably benign |
Het |
| Trappc2b |
T |
C |
11: 51,576,799 (GRCm39) |
E33G |
probably benign |
Het |
| Ttc29 |
G |
A |
8: 78,972,942 (GRCm39) |
E131K |
possibly damaging |
Het |
| Vmn1r29 |
C |
G |
6: 58,284,676 (GRCm39) |
S132C |
probably benign |
Het |
| Vmn1r53 |
G |
A |
6: 90,200,742 (GRCm39) |
A194V |
probably benign |
Het |
| Wdr86 |
A |
T |
5: 24,923,085 (GRCm39) |
H202Q |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,347,239 (GRCm39) |
D3160G |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,983,982 (GRCm39) |
D520G |
probably benign |
Het |
| Zfp607b |
T |
G |
7: 27,403,406 (GRCm39) |
C621G |
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 |
|
|
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 |
|
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'- CCCCAGGGACCTGTAACTTATC -3'
(R):5'- ACTGGCCTCATAACTTTGGTCC -3'
Sequencing Primer
(F):5'- AAGTCCATTCCAGCAGTGG -3'
(R):5'- CTCTCCCATAGGTCAGCGTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation