Incidental Mutation 'R1999:Ssc5d'
| ID |
224714 |
| 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 |
040009-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1999 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4945713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 915
(D915V)
|
| 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: D915V
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: D915V
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
A |
12: 84,056,527 (GRCm39) |
W82R |
probably damaging |
Het |
| Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
| Ambp |
C |
T |
4: 63,067,666 (GRCm39) |
M181I |
possibly damaging |
Het |
| Anln |
A |
G |
9: 22,244,348 (GRCm39) |
*1122Q |
probably null |
Het |
| Apc2 |
C |
T |
10: 80,144,994 (GRCm39) |
T635I |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
| Bltp1 |
C |
T |
3: 36,962,360 (GRCm39) |
T487I |
probably damaging |
Het |
| Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,481,172 (GRCm39) |
K306N |
possibly damaging |
Het |
| Cep295nl |
T |
C |
11: 118,223,915 (GRCm39) |
R310G |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,746,977 (GRCm39) |
T538A |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
| Diaph3 |
T |
A |
14: 87,222,302 (GRCm39) |
D405V |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,632,857 (GRCm39) |
|
probably null |
Het |
| Epha7 |
C |
T |
4: 28,938,686 (GRCm39) |
Q514* |
probably null |
Het |
| Etfb |
C |
T |
7: 43,103,987 (GRCm39) |
L141F |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,405,430 (GRCm39) |
V727A |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
| Fndc3c1 |
C |
T |
X: 105,464,311 (GRCm39) |
E1276K |
probably benign |
Het |
| Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,146,630 (GRCm39) |
V225A |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
| Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
| Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
| Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,472,428 (GRCm39) |
S811G |
probably null |
Het |
| Kcnt1 |
T |
A |
2: 25,782,372 (GRCm39) |
H156Q |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,988,517 (GRCm39) |
N507S |
probably damaging |
Het |
| Krt84 |
T |
C |
15: 101,438,019 (GRCm39) |
E312G |
possibly damaging |
Het |
| Manea |
A |
G |
4: 26,327,871 (GRCm39) |
L390P |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 24,996,672 (GRCm39) |
D225G |
possibly damaging |
Het |
| Medag |
T |
A |
5: 149,350,717 (GRCm39) |
F64Y |
probably damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,530,856 (GRCm39) |
S331R |
probably damaging |
Het |
| Myh1 |
A |
C |
11: 67,113,234 (GRCm39) |
D1873A |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,376,677 (GRCm39) |
W235R |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,706,151 (GRCm39) |
S502P |
possibly damaging |
Het |
| Or10g6 |
A |
G |
9: 39,933,985 (GRCm39) |
I99V |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
| Or8k30 |
T |
A |
2: 86,339,089 (GRCm39) |
Y95* |
probably null |
Het |
| Otof |
T |
A |
5: 30,546,116 (GRCm39) |
E427D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,094 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad21l |
T |
C |
2: 151,496,621 (GRCm39) |
|
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,589,575 (GRCm39) |
V459A |
probably damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Senp1 |
C |
T |
15: 97,956,196 (GRCm39) |
V408I |
possibly damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,964,130 (GRCm39) |
F499L |
possibly damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,957,297 (GRCm39) |
V492I |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,668,989 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,523,349 (GRCm39) |
D668G |
probably damaging |
Het |
| Sycp2l |
A |
G |
13: 41,271,780 (GRCm39) |
D73G |
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
G |
A |
4: 43,681,300 (GRCm39) |
C439Y |
probably damaging |
Het |
| Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
| Vmn1r74 |
G |
T |
7: 11,581,302 (GRCm39) |
V201F |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,696,883 (GRCm39) |
I647F |
probably damaging |
Het |
| Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
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 |
|
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 |
|
|
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'- TTGAACGGAATCAATGCACG -3'
(R):5'- ATCTCTGTACCCCAGGACAC -3'
Sequencing Primer
(F):5'- GGAATCAATGCACGCATTTGC -3'
(R):5'- TCTCTGTACCCCAGGACACATACTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation