Incidental Mutation 'R4619:Ssc5d'
ID |
345169 |
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 |
041885-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4619 (G1)
|
Quality Score |
146 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4928820-4947827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4932524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 396
(H396L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047309]
[ENSMUST00000057612]
[ENSMUST00000207687]
|
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 |
probably damaging
Transcript: ENSMUST00000057612
AA Change: H396L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052126 Gene: ENSMUSG00000035279 AA Change: H396L
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: ENSMUST00000207687
|
Meta Mutation Damage Score |
0.9097 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,775,520 (GRCm39) |
V1570I |
probably damaging |
Het |
Alx4 |
A |
G |
2: 93,473,106 (GRCm39) |
R35G |
probably damaging |
Het |
Apod |
T |
C |
16: 31,116,211 (GRCm39) |
D173G |
probably benign |
Het |
Atp8b3 |
G |
A |
10: 80,361,858 (GRCm39) |
T731I |
possibly damaging |
Het |
Birc6 |
A |
C |
17: 74,947,145 (GRCm39) |
T2955P |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,587,612 (GRCm39) |
D179N |
probably damaging |
Het |
Cntnap5c |
G |
T |
17: 58,717,263 (GRCm39) |
V1282L |
probably benign |
Het |
Crocc2 |
G |
A |
1: 93,141,372 (GRCm39) |
R1175H |
probably benign |
Het |
Dbh |
A |
G |
2: 27,064,836 (GRCm39) |
D349G |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,605,278 (GRCm39) |
I2372V |
probably benign |
Het |
Fer1l4 |
A |
T |
2: 155,889,007 (GRCm39) |
W389R |
probably damaging |
Het |
Fndc1 |
T |
C |
17: 7,984,036 (GRCm39) |
T1297A |
unknown |
Het |
Gart |
T |
C |
16: 91,422,321 (GRCm39) |
N732S |
probably damaging |
Het |
Gas2l2 |
T |
C |
11: 83,313,924 (GRCm39) |
I463V |
probably benign |
Het |
Gm5591 |
G |
A |
7: 38,220,072 (GRCm39) |
S267L |
probably benign |
Het |
Gzmk |
A |
G |
13: 113,309,657 (GRCm39) |
V92A |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,273,884 (GRCm39) |
R2680W |
probably damaging |
Het |
Insyn2a |
A |
G |
7: 134,520,270 (GRCm39) |
Y87H |
probably damaging |
Het |
Kcnh3 |
G |
A |
15: 99,131,982 (GRCm39) |
V646M |
probably damaging |
Het |
Kcnk7 |
A |
C |
19: 5,756,463 (GRCm39) |
I230L |
probably benign |
Het |
Kif3b |
C |
T |
2: 153,158,594 (GRCm39) |
R132* |
probably null |
Het |
Klra5 |
T |
C |
6: 129,885,776 (GRCm39) |
S128G |
probably benign |
Het |
Krba1 |
C |
T |
6: 48,383,282 (GRCm39) |
R4* |
probably null |
Het |
Krt1c |
T |
A |
15: 101,726,026 (GRCm39) |
I171F |
probably damaging |
Het |
Lss |
A |
G |
10: 76,372,089 (GRCm39) |
D148G |
probably benign |
Het |
Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
Mipep |
T |
C |
14: 61,140,865 (GRCm39) |
C566R |
probably damaging |
Het |
Myocd |
T |
A |
11: 65,069,254 (GRCm39) |
|
probably benign |
Het |
Ndufa9 |
C |
T |
6: 126,804,498 (GRCm39) |
|
probably null |
Het |
Nolc1 |
G |
A |
19: 46,071,959 (GRCm39) |
G583D |
probably damaging |
Het |
Nucb2 |
T |
C |
7: 116,127,059 (GRCm39) |
|
probably null |
Het |
Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
Or52e19 |
C |
T |
7: 102,959,165 (GRCm39) |
T79I |
probably benign |
Het |
Or5p63 |
A |
T |
7: 107,811,301 (GRCm39) |
I145N |
possibly damaging |
Het |
Pank4 |
C |
A |
4: 155,061,076 (GRCm39) |
D508E |
probably benign |
Het |
Phb1 |
T |
A |
11: 95,562,416 (GRCm39) |
|
probably benign |
Het |
Pign |
T |
A |
1: 105,449,715 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,076,382 (GRCm39) |
K349E |
probably benign |
Het |
Ppp1r3c |
A |
T |
19: 36,711,743 (GRCm39) |
V9E |
possibly damaging |
Het |
Rap1gap |
T |
A |
4: 137,443,422 (GRCm39) |
V130D |
probably damaging |
Het |
Senp3 |
T |
A |
11: 69,567,944 (GRCm39) |
Y432F |
probably benign |
Het |
Serpina3f |
T |
C |
12: 104,183,549 (GRCm39) |
I137T |
possibly damaging |
Het |
Slc46a3 |
T |
A |
5: 147,823,540 (GRCm39) |
K101* |
probably null |
Het |
Snph |
G |
A |
2: 151,436,434 (GRCm39) |
Q96* |
probably null |
Het |
Sptb |
A |
T |
12: 76,630,581 (GRCm39) |
C2244* |
probably null |
Het |
Srbd1 |
A |
T |
17: 86,416,693 (GRCm39) |
F488L |
probably benign |
Het |
Sulf1 |
A |
C |
1: 12,856,876 (GRCm39) |
R42S |
probably damaging |
Het |
Taf1a |
T |
A |
1: 183,181,752 (GRCm39) |
|
probably benign |
Het |
Thoc5 |
T |
A |
11: 4,876,218 (GRCm39) |
M609K |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,568,617 (GRCm39) |
I1588F |
probably damaging |
Het |
Tmcc1 |
C |
T |
6: 116,020,247 (GRCm39) |
V402I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,818,358 (GRCm39) |
D524G |
probably damaging |
Het |
Trbv31 |
T |
C |
6: 41,534,901 (GRCm39) |
I21V |
probably benign |
Het |
Vmn1r74 |
A |
T |
7: 11,581,398 (GRCm39) |
T233S |
possibly damaging |
Het |
Vmn1r74 |
G |
C |
7: 11,581,403 (GRCm39) |
Q234H |
probably damaging |
Het |
Vsx1 |
A |
T |
2: 150,530,529 (GRCm39) |
S118T |
probably benign |
Het |
Wnt9b |
G |
A |
11: 103,621,949 (GRCm39) |
T236I |
probably benign |
Het |
Zbtb21 |
T |
C |
16: 97,751,092 (GRCm39) |
T1092A |
possibly damaging |
Het |
Zc3hc1 |
G |
A |
6: 30,387,523 (GRCm39) |
T52I |
probably benign |
Het |
Zfp558 |
T |
A |
9: 18,367,577 (GRCm39) |
N404Y |
possibly damaging |
Het |
Zfp735 |
A |
T |
11: 73,602,031 (GRCm39) |
D325V |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,879 (GRCm39) |
M96K |
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 |
|
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'- ATCTTCGCGATGCTGCTGTG -3'
(R):5'- AATAATATCCAGTGCCCCTTAGG -3'
Sequencing Primer
(F):5'- TGTGGCCTGCAAGGAGCTG -3'
(R):5'- GACCTAGTTACCCCTAGTTAATTTGG -3'
|
Posted On |
2015-09-25 |