Incidental Mutation 'R7759:Ssc5d'
| ID |
597721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssc5d
|
| Ensembl Gene |
ENSMUSG00000035279 |
| Gene Name |
scavenger receptor cysteine rich family, 5 domains |
| Synonyms |
s5d-srcrb, A430110N23Rik |
| MMRRC Submission |
045815-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7759 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4925785-4944826 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 4937530 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 881
(K881*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057612]
[ENSMUST00000208109]
|
| AlphaFold |
Q8BV57 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057612
AA Change: K881*
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: K881*
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
T |
16: 4,864,650 (GRCm38) |
G215V |
probably benign |
Het |
| Adamts1 |
C |
A |
16: 85,797,795 (GRCm38) |
G652C |
probably damaging |
Het |
| Adck1 |
G |
A |
12: 88,402,117 (GRCm38) |
A122T |
possibly damaging |
Het |
| Akap1 |
A |
C |
11: 88,845,833 (GRCm38) |
M34R |
probably damaging |
Het |
| Apc2 |
C |
T |
10: 80,311,196 (GRCm38) |
R695C |
probably damaging |
Het |
| Apon |
T |
A |
10: 128,254,515 (GRCm38) |
W21R |
probably benign |
Het |
| Arhgef16 |
T |
C |
4: 154,286,975 (GRCm38) |
T254A |
probably benign |
Het |
| Arid5b |
T |
A |
10: 68,097,802 (GRCm38) |
S757C |
probably damaging |
Het |
| B020004C17Rik |
A |
C |
14: 57,016,785 (GRCm38) |
I122L |
possibly damaging |
Het |
| Bckdhb |
T |
G |
9: 84,010,326 (GRCm38) |
V270G |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 30,099,188 (GRCm38) |
Y1146H |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 105,697,036 (GRCm38) |
D1214G |
possibly damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,107,931 (GRCm38) |
V636A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 90,977,550 (GRCm38) |
|
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,698,173 (GRCm38) |
S1336P |
|
Het |
| Cubn |
A |
G |
2: 13,348,150 (GRCm38) |
Y1926H |
probably damaging |
Het |
| Ddx58 |
C |
A |
4: 40,225,104 (GRCm38) |
A298S |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,817,736 (GRCm38) |
D1437V |
probably damaging |
Het |
| Eme1 |
A |
T |
11: 94,645,840 (GRCm38) |
Y504* |
probably null |
Het |
| Enah |
G |
A |
1: 181,918,444 (GRCm38) |
A687V |
unknown |
Het |
| Endou |
A |
C |
15: 97,713,866 (GRCm38) |
V339G |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,614,605 (GRCm38) |
R232H |
probably benign |
Het |
| Ephx2 |
G |
A |
14: 66,089,519 (GRCm38) |
A409V |
possibly damaging |
Het |
| Esd |
T |
A |
14: 74,745,567 (GRCm38) |
C219* |
probably null |
Het |
| Fscb |
A |
T |
12: 64,474,092 (GRCm38) |
M200K |
probably benign |
Het |
| Gabra6 |
A |
T |
11: 42,317,681 (GRCm38) |
V108D |
probably damaging |
Het |
| Gm11555 |
A |
G |
11: 99,649,742 (GRCm38) |
V137A |
unknown |
Het |
| Gpld1 |
A |
G |
13: 24,962,400 (GRCm38) |
D209G |
probably damaging |
Het |
| Ikzf1 |
T |
A |
11: 11,769,256 (GRCm38) |
I408N |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 116,003,710 (GRCm38) |
R1364G |
possibly damaging |
Het |
| Kif26b |
A |
C |
1: 178,678,944 (GRCm38) |
K195T |
probably damaging |
Het |
| Mfsd12 |
T |
C |
10: 81,363,593 (GRCm38) |
W440R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,570,027 (GRCm38) |
E373K |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,081,358 (GRCm38) |
V1293E |
probably damaging |
Het |
| Myof |
C |
A |
19: 37,939,898 (GRCm38) |
A1068S |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,615,784 (GRCm38) |
D720G |
probably damaging |
Het |
| Nova2 |
G |
T |
7: 18,958,251 (GRCm38) |
G435V |
|
Het |
| Oacyl |
T |
A |
18: 65,710,560 (GRCm38) |
D109E |
probably damaging |
Het |
| Olfr1393 |
A |
T |
11: 49,280,636 (GRCm38) |
M163L |
probably benign |
Het |
| Olfr684 |
G |
A |
7: 105,157,025 (GRCm38) |
S219F |
probably damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,113,198 (GRCm38) |
V941M |
possibly damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,299,926 (GRCm38) |
R1014L |
probably damaging |
Het |
| Ppm1h |
T |
G |
10: 122,904,113 (GRCm38) |
D364E |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,344,884 (GRCm38) |
N2002D |
probably benign |
Het |
| Sall1 |
C |
T |
8: 89,042,351 (GRCm38) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,648,132 (GRCm38) |
W728* |
probably null |
Het |
| Setdb2 |
G |
T |
14: 59,419,364 (GRCm38) |
T168K |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,159,876 (GRCm38) |
I97V |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,314,551 (GRCm38) |
M498K |
probably benign |
Het |
| Smpd4 |
A |
T |
16: 17,638,633 (GRCm38) |
E362D |
probably damaging |
Het |
| Strn4 |
A |
G |
7: 16,830,384 (GRCm38) |
E313G |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,893,927 (GRCm38) |
N306I |
possibly damaging |
Het |
| Tdrd6 |
G |
T |
17: 43,624,839 (GRCm38) |
R1773S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,677,059 (GRCm38) |
E729G |
probably damaging |
Het |
| Tnfrsf23 |
G |
A |
7: 143,670,835 (GRCm38) |
T135I |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,884,539 (GRCm38) |
M218T |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,120,258 (GRCm38) |
|
probably null |
Het |
| Ubr2 |
G |
A |
17: 46,986,048 (GRCm38) |
R269C |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,146,725 (GRCm38) |
M1459K |
possibly damaging |
Het |
| Upf1 |
A |
G |
8: 70,334,080 (GRCm38) |
V929A |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,594,452 (GRCm38) |
S24P |
probably benign |
Het |
| Vmn1r214 |
G |
A |
13: 23,034,461 (GRCm38) |
E42K |
not run |
Het |
| Vmn1r83 |
G |
T |
7: 12,321,433 (GRCm38) |
D232E |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,823,380 (GRCm38) |
V668I |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,556,570 (GRCm38) |
I281T |
probably damaging |
Het |
| Ywhag |
A |
T |
5: 135,911,189 (GRCm38) |
Y184N |
probably damaging |
Het |
| Zdbf2 |
A |
C |
1: 63,308,376 (GRCm38) |
E1971D |
possibly damaging |
Het |
| Zfp568 |
G |
A |
7: 30,023,414 (GRCm38) |
A595T |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,117,083 (GRCm38) |
D248G |
probably benign |
Het |
|
| Other mutations in Ssc5d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Ssc5d
|
APN |
7 |
4,944,481 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL00939:Ssc5d
|
APN |
7 |
4,936,281 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01109:Ssc5d
|
APN |
7 |
4,937,112 (GRCm38) |
nonsense |
probably null |
|
|
IGL01409:Ssc5d
|
APN |
7 |
4,942,809 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01880:Ssc5d
|
APN |
7 |
4,933,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02013:Ssc5d
|
APN |
7 |
4,943,836 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02227:Ssc5d
|
APN |
7 |
4,933,454 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02963:Ssc5d
|
APN |
7 |
4,944,327 (GRCm38) |
missense |
probably benign |
0.02 |
|
D4043:Ssc5d
|
UTSW |
7 |
4,943,983 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
D4216:Ssc5d
|
UTSW |
7 |
4,943,983 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0104:Ssc5d
|
UTSW |
7 |
4,936,286 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0115:Ssc5d
|
UTSW |
7 |
4,927,881 (GRCm38) |
unclassified |
probably benign |
|
|
R0201:Ssc5d
|
UTSW |
7 |
4,944,663 (GRCm38) |
missense |
probably benign |
|
|
R0365:Ssc5d
|
UTSW |
7 |
4,928,467 (GRCm38) |
nonsense |
probably null |
|
|
R0485:Ssc5d
|
UTSW |
7 |
4,937,471 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0967:Ssc5d
|
UTSW |
7 |
4,944,343 (GRCm38) |
nonsense |
probably null |
|
|
R1607:Ssc5d
|
UTSW |
7 |
4,944,043 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1639:Ssc5d
|
UTSW |
7 |
4,928,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1801:Ssc5d
|
UTSW |
7 |
4,936,607 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1867:Ssc5d
|
UTSW |
7 |
4,928,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1999:Ssc5d
|
UTSW |
7 |
4,942,714 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2007:Ssc5d
|
UTSW |
7 |
4,928,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2084:Ssc5d
|
UTSW |
7 |
4,937,012 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2234:Ssc5d
|
UTSW |
7 |
4,943,850 (GRCm38) |
missense |
probably benign |
|
|
R2259:Ssc5d
|
UTSW |
7 |
4,943,916 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2567:Ssc5d
|
UTSW |
7 |
4,936,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2879:Ssc5d
|
UTSW |
7 |
4,936,907 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3782:Ssc5d
|
UTSW |
7 |
4,942,791 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3875:Ssc5d
|
UTSW |
7 |
4,927,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4322:Ssc5d
|
UTSW |
7 |
4,928,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4331:Ssc5d
|
UTSW |
7 |
4,942,726 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4334:Ssc5d
|
UTSW |
7 |
4,943,664 (GRCm38) |
missense |
probably benign |
|
|
R4430:Ssc5d
|
UTSW |
7 |
4,943,664 (GRCm38) |
missense |
probably benign |
|
|
R4619:Ssc5d
|
UTSW |
7 |
4,929,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4794:Ssc5d
|
UTSW |
7 |
4,943,745 (GRCm38) |
missense |
probably benign |
|
|
R5106:Ssc5d
|
UTSW |
7 |
4,936,665 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5174:Ssc5d
|
UTSW |
7 |
4,927,971 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5553:Ssc5d
|
UTSW |
7 |
4,936,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5649:Ssc5d
|
UTSW |
7 |
4,926,518 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5786:Ssc5d
|
UTSW |
7 |
4,936,818 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6059:Ssc5d
|
UTSW |
7 |
4,942,744 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6163:Ssc5d
|
UTSW |
7 |
4,927,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6332:Ssc5d
|
UTSW |
7 |
4,937,522 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6341:Ssc5d
|
UTSW |
7 |
4,936,665 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6613:Ssc5d
|
UTSW |
7 |
4,933,293 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7180:Ssc5d
|
UTSW |
7 |
4,936,601 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7576:Ssc5d
|
UTSW |
7 |
4,928,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7602:Ssc5d
|
UTSW |
7 |
4,942,746 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7609:Ssc5d
|
UTSW |
7 |
4,927,576 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7691:Ssc5d
|
UTSW |
7 |
4,944,169 (GRCm38) |
missense |
probably benign |
0.29 |
|
R8480:Ssc5d
|
UTSW |
7 |
4,936,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9029:Ssc5d
|
UTSW |
7 |
4,927,920 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9163:Ssc5d
|
UTSW |
7 |
4,933,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9178:Ssc5d
|
UTSW |
7 |
4,927,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9181:Ssc5d
|
UTSW |
7 |
4,942,815 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9382:Ssc5d
|
UTSW |
7 |
4,927,284 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9489:Ssc5d
|
UTSW |
7 |
4,937,600 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9626:Ssc5d
|
UTSW |
7 |
4,943,569 (GRCm38) |
missense |
probably benign |
|
|
R9630:Ssc5d
|
UTSW |
7 |
4,936,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9776:Ssc5d
|
UTSW |
7 |
4,929,368 (GRCm38) |
missense |
probably benign |
0.07 |
|
X0063:Ssc5d
|
UTSW |
7 |
4,936,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Ssc5d
|
UTSW |
7 |
4,928,434 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTTGGTGTCTAAAGGTC -3'
(R):5'- AGAGCTCCACCATTTTGACTC -3'
Sequencing Primer
(F):5'- TGGTGTCTAAAGGTCTAAGGAGC -3'
(R):5'- TGACTCTGACCTCATCACACATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation