Incidental Mutation 'R6332:Ssc5d'
ID |
513168 |
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 |
044486-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6332 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4940521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 878
(D878G)
|
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: D878G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052126 Gene: ENSMUSG00000035279 AA Change: D878G
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
C |
A |
7: 42,095,667 (GRCm39) |
G194C |
possibly damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,135,248 (GRCm39) |
K258E |
probably damaging |
Het |
Afdn |
A |
T |
17: 14,030,707 (GRCm39) |
D206V |
possibly damaging |
Het |
Agt |
G |
T |
8: 125,284,572 (GRCm39) |
Q389K |
possibly damaging |
Het |
Ankrd44 |
A |
T |
1: 54,801,432 (GRCm39) |
D298E |
probably damaging |
Het |
Anks1 |
A |
G |
17: 28,271,709 (GRCm39) |
S897G |
probably benign |
Het |
Apol9b |
A |
G |
15: 77,619,746 (GRCm39) |
|
probably null |
Het |
Baz1a |
T |
C |
12: 54,965,339 (GRCm39) |
E705G |
probably benign |
Het |
BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,246,210 (GRCm39) |
F749L |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,018,036 (GRCm39) |
I482K |
possibly damaging |
Het |
Col6a3 |
A |
G |
1: 90,749,955 (GRCm39) |
F293S |
probably damaging |
Het |
Dnah12 |
T |
G |
14: 26,439,129 (GRCm39) |
M527R |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,343,273 (GRCm39) |
R1539H |
probably benign |
Het |
Ece1 |
A |
G |
4: 137,685,319 (GRCm39) |
Y603C |
probably damaging |
Het |
Eea1 |
G |
A |
10: 95,877,335 (GRCm39) |
A1350T |
possibly damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,394,402 (GRCm39) |
K507N |
possibly damaging |
Het |
Flt3l |
A |
T |
7: 44,783,091 (GRCm39) |
|
probably null |
Het |
Fn1 |
T |
C |
1: 71,667,230 (GRCm39) |
Q834R |
probably benign |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hycc2 |
T |
A |
1: 58,569,034 (GRCm39) |
Y515F |
probably damaging |
Het |
Ifih1 |
T |
C |
2: 62,469,827 (GRCm39) |
N157D |
possibly damaging |
Het |
Itga2 |
A |
C |
13: 114,980,009 (GRCm39) |
M1064R |
probably benign |
Het |
Itgae |
A |
G |
11: 73,002,228 (GRCm39) |
|
probably null |
Het |
Krtap10-4 |
T |
C |
10: 77,662,883 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
A |
G |
16: 19,518,431 (GRCm39) |
C269R |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,709,355 (GRCm39) |
D125G |
probably damaging |
Het |
Matn2 |
A |
C |
15: 34,423,901 (GRCm39) |
E586D |
probably benign |
Het |
Mef2b |
T |
A |
8: 70,616,789 (GRCm39) |
|
probably null |
Het |
Mrps22 |
A |
G |
9: 98,483,524 (GRCm39) |
|
probably null |
Het |
Mtmr2 |
T |
C |
9: 13,711,325 (GRCm39) |
F445L |
probably damaging |
Het |
Nxph4 |
A |
G |
10: 127,362,237 (GRCm39) |
V218A |
probably damaging |
Het |
Or1e23 |
A |
G |
11: 73,408,001 (GRCm39) |
V8A |
probably benign |
Het |
Or4f57 |
C |
T |
2: 111,791,091 (GRCm39) |
G109D |
probably damaging |
Het |
Or51k1 |
A |
G |
7: 103,660,980 (GRCm39) |
S310P |
probably benign |
Het |
Pdpk1 |
A |
T |
17: 24,325,896 (GRCm39) |
V100D |
probably damaging |
Het |
Phldb2 |
A |
C |
16: 45,594,609 (GRCm39) |
S899A |
probably benign |
Het |
Pnpla3 |
G |
A |
15: 84,056,983 (GRCm39) |
|
probably null |
Het |
Rasal2 |
A |
G |
1: 157,126,757 (GRCm39) |
Y94H |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,006,019 (GRCm39) |
I987N |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,687,753 (GRCm39) |
Y300H |
probably damaging |
Het |
Setbp1 |
G |
A |
18: 78,826,584 (GRCm39) |
S1343L |
probably benign |
Het |
Sfswap |
A |
G |
5: 129,648,105 (GRCm39) |
K938E |
possibly damaging |
Het |
Shld2 |
A |
G |
14: 33,990,129 (GRCm39) |
V259A |
probably benign |
Het |
Slc3a1 |
A |
C |
17: 85,335,860 (GRCm39) |
M1L |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,991,409 (GRCm39) |
V427I |
probably benign |
Het |
Ssbp2 |
A |
T |
13: 91,839,027 (GRCm39) |
M300L |
probably benign |
Het |
Stk19 |
A |
G |
17: 35,043,574 (GRCm39) |
L212P |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,240,387 (GRCm39) |
M115V |
possibly damaging |
Het |
Syt17 |
A |
C |
7: 118,033,466 (GRCm39) |
S181A |
probably benign |
Het |
Taar7b |
A |
T |
10: 23,875,849 (GRCm39) |
N5Y |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,680,421 (GRCm39) |
|
probably null |
Het |
Tmem248 |
T |
A |
5: 130,258,310 (GRCm39) |
M1K |
probably null |
Het |
Tmem82 |
T |
A |
4: 141,343,721 (GRCm39) |
Q183L |
probably damaging |
Het |
Tpd52l1 |
T |
C |
10: 31,214,203 (GRCm39) |
E142G |
probably damaging |
Het |
Ttll2 |
A |
T |
17: 7,619,167 (GRCm39) |
H253Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,687,808 (GRCm39) |
|
probably benign |
Het |
Ubd |
A |
G |
17: 37,506,392 (GRCm39) |
K93E |
probably benign |
Het |
Ugt2b35 |
T |
A |
5: 87,149,415 (GRCm39) |
F222Y |
probably damaging |
Het |
Vmn2r10 |
G |
T |
5: 109,151,328 (GRCm39) |
N95K |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,434,904 (GRCm39) |
V1775A |
probably benign |
Het |
Zdbf2 |
A |
G |
1: 63,346,981 (GRCm39) |
K1787E |
possibly damaging |
Het |
Zfp26 |
A |
T |
9: 20,348,582 (GRCm39) |
F661I |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,602,504 (GRCm39) |
K483* |
probably null |
Het |
Zfp946 |
A |
G |
17: 22,673,519 (GRCm39) |
E91G |
probably damaging |
Het |
Zic5 |
C |
A |
14: 122,697,161 (GRCm39) |
D485Y |
unknown |
Het |
Zmynd8 |
A |
T |
2: 165,680,772 (GRCm39) |
D236E |
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 |
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 |
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'- AGCGTTGGTGTCTAAAGGTC -3'
(R):5'- AGAGCTCCACCATTTTGACTC -3'
Sequencing Primer
(F):5'- TGGTGTCTAAAGGTCTAAGGAGC -3'
(R):5'- TGACTCTGACCTCATCACACATG -3'
|
Posted On |
2018-04-27 |