Incidental Mutation 'R7609:Ssc5d'
ID |
588484 |
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 |
045714-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7609 (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 4930575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 129
(E129G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047309]
[ENSMUST00000057612]
[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 |
possibly damaging
Transcript: ENSMUST00000057612
AA Change: E129G
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052126 Gene: ENSMUSG00000035279 AA Change: E129G
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: ENSMUST00000207506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207527
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207687
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208754
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (69/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,896,744 (GRCm39) |
Y288C |
probably benign |
Het |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Agl |
C |
A |
3: 116,600,928 (GRCm39) |
R24I |
possibly damaging |
Het |
Aldoart2 |
A |
G |
12: 55,612,833 (GRCm39) |
T253A |
probably benign |
Het |
Ankrd39 |
G |
A |
1: 36,578,546 (GRCm39) |
R160W |
probably damaging |
Het |
Aspscr1 |
C |
T |
11: 120,568,348 (GRCm39) |
T57M |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,792,817 (GRCm39) |
L437S |
probably benign |
Het |
Bcl9l |
T |
A |
9: 44,417,044 (GRCm39) |
L331Q |
probably damaging |
Het |
Cdhr4 |
C |
A |
9: 107,874,482 (GRCm39) |
P546T |
probably damaging |
Het |
Cfap61 |
T |
C |
2: 145,954,453 (GRCm39) |
C231R |
unknown |
Het |
Cnih4 |
T |
C |
1: 180,983,467 (GRCm39) |
L61P |
probably damaging |
Het |
Dtx4 |
A |
G |
19: 12,469,645 (GRCm39) |
Y161H |
probably damaging |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Ercc6 |
A |
G |
14: 32,288,318 (GRCm39) |
H830R |
probably benign |
Het |
Exoc7 |
T |
C |
11: 116,180,085 (GRCm39) |
N673S |
possibly damaging |
Het |
Gm12185 |
T |
C |
11: 48,806,850 (GRCm39) |
S114G |
possibly damaging |
Het |
Hsfy2 |
A |
T |
1: 56,676,310 (GRCm39) |
F76I |
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,257,186 (GRCm39) |
D1413G |
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,451,603 (GRCm39) |
C198Y |
probably damaging |
Het |
Lama3 |
G |
T |
18: 12,664,891 (GRCm39) |
|
probably null |
Het |
Lce3f |
A |
T |
3: 92,900,403 (GRCm39) |
S75C |
unknown |
Het |
Ldhal6b |
T |
C |
17: 5,468,266 (GRCm39) |
M223V |
probably benign |
Het |
Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
Mc1r |
A |
T |
8: 124,135,032 (GRCm39) |
I262F |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,010,591 (GRCm39) |
I629T |
probably damaging |
Het |
Mkrn2os |
A |
G |
6: 115,563,687 (GRCm39) |
V116A |
possibly damaging |
Het |
Mtcl3 |
A |
T |
10: 29,024,224 (GRCm39) |
D380V |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,415,466 (GRCm39) |
V2804D |
possibly damaging |
Het |
Myo15a |
T |
C |
11: 60,379,637 (GRCm39) |
V279A |
|
Het |
Nhlrc2 |
A |
G |
19: 56,583,328 (GRCm39) |
I600V |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,335,356 (GRCm39) |
Q2183R |
probably benign |
Het |
Obscn |
C |
T |
11: 58,891,125 (GRCm39) |
E7136K |
unknown |
Het |
Or10ag56 |
T |
C |
2: 87,139,853 (GRCm39) |
V260A |
probably benign |
Het |
Or5p4 |
T |
A |
7: 107,680,753 (GRCm39) |
F251I |
probably damaging |
Het |
Or8c9 |
A |
C |
9: 38,241,520 (GRCm39) |
L209F |
possibly damaging |
Het |
Or8g37 |
C |
T |
9: 39,731,583 (GRCm39) |
T216I |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,230,546 (GRCm39) |
I141T |
possibly damaging |
Het |
Pde4dip |
C |
A |
3: 97,622,881 (GRCm39) |
V1443F |
possibly damaging |
Het |
Pdgfra |
T |
C |
5: 75,327,382 (GRCm39) |
V193A |
probably benign |
Het |
Phf3 |
T |
C |
1: 30,844,582 (GRCm39) |
Y1459C |
probably benign |
Het |
Pias4 |
A |
T |
10: 80,993,860 (GRCm39) |
|
probably null |
Het |
Plcg2 |
A |
G |
8: 118,284,852 (GRCm39) |
N159S |
probably benign |
Het |
Plekha7 |
T |
C |
7: 115,763,681 (GRCm39) |
D307G |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,990,240 (GRCm39) |
K491E |
probably benign |
Het |
Rbpjl |
A |
T |
2: 164,247,734 (GRCm39) |
R62S |
probably benign |
Het |
Rgs11 |
T |
C |
17: 26,426,415 (GRCm39) |
S245P |
probably damaging |
Het |
Ripor3 |
G |
A |
2: 167,826,490 (GRCm39) |
A685V |
possibly damaging |
Het |
Rnase9 |
G |
A |
14: 51,276,940 (GRCm39) |
P13S |
possibly damaging |
Het |
Saxo5 |
A |
T |
8: 3,526,057 (GRCm39) |
H70L |
probably benign |
Het |
Scin |
C |
T |
12: 40,174,588 (GRCm39) |
C165Y |
probably damaging |
Het |
Senp7 |
T |
C |
16: 55,932,000 (GRCm39) |
W100R |
probably benign |
Het |
Slc26a2 |
T |
C |
18: 61,331,532 (GRCm39) |
D633G |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,283,545 (GRCm39) |
P446S |
probably damaging |
Het |
Spag17 |
T |
A |
3: 100,002,911 (GRCm39) |
C1878* |
probably null |
Het |
Supt6 |
T |
C |
11: 78,117,777 (GRCm39) |
N480D |
probably benign |
Het |
Tbk1 |
A |
G |
10: 121,388,406 (GRCm39) |
L590S |
probably damaging |
Het |
Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Trio |
A |
G |
15: 27,912,728 (GRCm39) |
S109P |
unknown |
Het |
Tsga10 |
A |
T |
1: 37,843,974 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,626,107 (GRCm39) |
L14984* |
probably null |
Het |
Tyr |
T |
C |
7: 87,133,092 (GRCm39) |
T325A |
probably benign |
Het |
U2surp |
A |
T |
9: 95,367,732 (GRCm39) |
|
probably null |
Het |
Uba6 |
C |
A |
5: 86,294,934 (GRCm39) |
K368N |
probably benign |
Het |
Upb1 |
A |
G |
10: 75,272,035 (GRCm39) |
T283A |
probably benign |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vmn1r31 |
A |
G |
6: 58,449,455 (GRCm39) |
Y137H |
probably damaging |
Het |
Wdtc1 |
T |
C |
4: 133,023,748 (GRCm39) |
K541R |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,800,741 (GRCm39) |
I624T |
possibly damaging |
Het |
Zfp804b |
T |
A |
5: 6,820,066 (GRCm39) |
D999V |
possibly damaging |
Het |
Zmym4 |
T |
A |
4: 126,819,588 (GRCm39) |
H105L |
probably benign |
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 |
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 |
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'- GCGGTAACCAACTCCAGATC -3'
(R):5'- AATGAAGGAGACTAGCTTGCCG -3'
Sequencing Primer
(F):5'- GATCCCCATAAGACCAGGTG -3'
(R):5'- CTTGCCGGAGAAAAACGTTTGC -3'
|
Posted On |
2019-10-24 |