Incidental Mutation 'R6059:Ssc5d'
| ID |
483118 |
| 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 |
044225-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4945743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 925
(T925M)
|
| 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: T925M
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: T925M
| 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 |
0.1094 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (54/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
C |
A |
17: 48,400,847 (GRCm39) |
T44K |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,014,508 (GRCm39) |
D189G |
probably benign |
Het |
| Abo |
A |
G |
2: 26,733,365 (GRCm39) |
V278A |
possibly damaging |
Het |
| Anxa1 |
A |
G |
19: 20,355,064 (GRCm39) |
F237L |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,868,326 (GRCm39) |
Y466C |
possibly damaging |
Het |
| Cfh |
T |
A |
1: 140,046,428 (GRCm39) |
K531N |
possibly damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,728 (GRCm39) |
P31Q |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,516,531 (GRCm39) |
A355V |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,620,707 (GRCm39) |
C929S |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,661,116 (GRCm39) |
V331D |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,295,301 (GRCm39) |
V469E |
possibly damaging |
Het |
| Dchs2 |
A |
G |
3: 83,263,043 (GRCm39) |
S3104G |
probably benign |
Het |
| Ddx24 |
G |
T |
12: 103,374,559 (GRCm39) |
A875E |
probably damaging |
Het |
| Dsc1 |
A |
T |
18: 20,243,299 (GRCm39) |
N51K |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,927,595 (GRCm39) |
I4788T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,593,793 (GRCm39) |
T537I |
probably damaging |
Het |
| Epb41l3 |
A |
G |
17: 69,591,637 (GRCm39) |
E708G |
probably damaging |
Het |
| Fam162b |
A |
T |
10: 51,466,403 (GRCm39) |
C39S |
probably benign |
Het |
| Garre1 |
G |
A |
7: 33,944,888 (GRCm39) |
A452V |
possibly damaging |
Het |
| Gbf1 |
T |
C |
19: 46,253,687 (GRCm39) |
I531T |
probably damaging |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,423 (GRCm39) |
V48A |
probably benign |
Het |
| Gorasp1 |
A |
G |
9: 119,759,072 (GRCm39) |
V177A |
probably damaging |
Het |
| Gys1 |
A |
G |
7: 45,104,712 (GRCm39) |
|
probably null |
Het |
| Hif1a |
T |
A |
12: 73,988,574 (GRCm39) |
V523E |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,854,641 (GRCm39) |
|
probably benign |
Het |
| Lcn9 |
C |
A |
2: 25,714,737 (GRCm39) |
L159I |
possibly damaging |
Het |
| Luzp1 |
C |
T |
4: 136,268,791 (GRCm39) |
A338V |
probably benign |
Het |
| Map3k10 |
A |
T |
7: 27,356,247 (GRCm39) |
S891T |
probably damaging |
Het |
| Mmrn2 |
C |
T |
14: 34,119,548 (GRCm39) |
Q97* |
probably null |
Het |
| Mov10 |
G |
A |
3: 104,725,266 (GRCm39) |
|
probably benign |
Het |
| Ncam1 |
A |
C |
9: 49,455,966 (GRCm39) |
Y551D |
probably damaging |
Het |
| Ncf1 |
A |
T |
5: 134,252,341 (GRCm39) |
Y237N |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,325,052 (GRCm39) |
I2537N |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,107,836 (GRCm39) |
V555E |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,391,042 (GRCm39) |
Y428H |
probably damaging |
Het |
| Nup133 |
C |
A |
8: 124,641,335 (GRCm39) |
A862S |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,823,078 (GRCm39) |
L23* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,861,714 (GRCm39) |
E4889G |
unknown |
Het |
| Plcd3 |
T |
A |
11: 102,971,227 (GRCm39) |
I110F |
possibly damaging |
Het |
| Plxna2 |
C |
A |
1: 194,493,279 (GRCm39) |
N1851K |
possibly damaging |
Het |
| Ppp2r5c |
C |
A |
12: 110,541,222 (GRCm39) |
A457E |
probably benign |
Het |
| Ppp5c |
C |
T |
7: 16,761,832 (GRCm39) |
|
probably benign |
Het |
| Pramel25 |
T |
G |
4: 143,520,550 (GRCm39) |
S101A |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,325,748 (GRCm39) |
Y1009F |
possibly damaging |
Het |
| Rcor3 |
A |
T |
1: 191,804,240 (GRCm39) |
M303K |
probably benign |
Het |
| Rrn3 |
G |
A |
16: 13,624,468 (GRCm39) |
M433I |
probably benign |
Het |
| Serpinb9e |
G |
A |
13: 33,441,757 (GRCm39) |
V230M |
probably benign |
Het |
| Shisa6 |
T |
A |
11: 66,115,800 (GRCm39) |
H279L |
probably damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,165,089 (GRCm39) |
I234N |
probably damaging |
Het |
| Socs1 |
G |
C |
16: 10,602,394 (GRCm39) |
F114L |
probably damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,887 (GRCm39) |
S156P |
probably damaging |
Het |
| Ttc5 |
C |
G |
14: 51,015,303 (GRCm39) |
V103L |
probably damaging |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,538 (GRCm39) |
T119A |
probably benign |
Het |
| Vmn2r99 |
G |
A |
17: 19,599,242 (GRCm39) |
D309N |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,957,693 (GRCm39) |
H353R |
possibly damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,257,356 (GRCm39) |
Y47* |
probably null |
Het |
| Zfp276 |
T |
C |
8: 123,994,562 (GRCm39) |
M543T |
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 |
|
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 |
|
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'- TGCTTTATGGGATAACCTCTTCAG -3'
(R):5'- TAGTTACCCCTAGGAGCTTGG -3'
Sequencing Primer
(F):5'- CAGGTTCTGCGTTTACTAGCCAAG -3'
(R):5'- GAGCTTGGAGCCCATCTCTGTAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation