Incidental Mutation 'R9455:Sel1l3'
| ID |
714525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sel1l3
|
| Ensembl Gene |
ENSMUSG00000029189 |
| Gene Name |
sel-1 suppressor of lin-12-like 3 (C. elegans) |
| Synonyms |
2310045A20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53289157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 888
(N888I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031090
AA Change: N888I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: N888I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
|
SEL1
|
575 |
609 |
3.39e1 |
SMART |
|
SEL1
|
611 |
647 |
1.85e1 |
SMART |
|
SEL1
|
694 |
730 |
5.27e-5 |
SMART |
|
SEL1
|
732 |
767 |
2.94e-3 |
SMART |
|
SEL1
|
768 |
800 |
5.32e-1 |
SMART |
|
SEL1
|
801 |
839 |
1.23e-5 |
SMART |
|
SEL1
|
840 |
877 |
8.55e1 |
SMART |
|
SEL1
|
952 |
988 |
2.56e-3 |
SMART |
|
low complexity region
|
1048 |
1058 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1065 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1127 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,353,897 (GRCm39) |
Y3740H |
probably damaging |
Het |
| Acsl6 |
G |
T |
11: 54,210,752 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,667,017 (GRCm39) |
D492N |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,219,296 (GRCm39) |
E1218G |
probably damaging |
Het |
| Bcl2l15 |
C |
T |
3: 103,743,369 (GRCm39) |
T90I |
unknown |
Het |
| Bsn |
A |
G |
9: 107,988,531 (GRCm39) |
V2407A |
unknown |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,924 (GRCm39) |
M999T |
possibly damaging |
Het |
| Ccdc66 |
G |
A |
14: 27,208,872 (GRCm39) |
P461S |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,744,704 (GRCm39) |
L345F |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,245,046 (GRCm39) |
S1137T |
possibly damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,061 (GRCm39) |
Y186C |
unknown |
Het |
| Clca3b |
T |
A |
3: 144,529,023 (GRCm39) |
T884S |
unknown |
Het |
| Cndp2 |
T |
A |
18: 84,690,246 (GRCm39) |
Y232F |
probably benign |
Het |
| Cx3cr1 |
A |
T |
9: 119,880,659 (GRCm39) |
Y248N |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,524 (GRCm39) |
N282K |
possibly damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,485 (GRCm39) |
I414V |
probably benign |
Het |
| F3 |
A |
T |
3: 121,527,866 (GRCm39) |
N288I |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,412 (GRCm39) |
L1435P |
|
Het |
| Fbxw14 |
A |
T |
9: 109,103,567 (GRCm39) |
N371K |
probably benign |
Het |
| Firrm |
G |
T |
1: 163,781,721 (GRCm39) |
T902K |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,647,112 (GRCm39) |
E1559D |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,695,972 (GRCm39) |
M497K |
possibly damaging |
Het |
| Gm45861 |
C |
T |
8: 28,041,394 (GRCm39) |
Q1000* |
probably null |
Het |
| Gpr152 |
T |
C |
19: 4,193,844 (GRCm39) |
S462P |
probably benign |
Het |
| Irgq |
A |
G |
7: 24,231,217 (GRCm39) |
N136S |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,099,537 (GRCm39) |
Y134C |
probably damaging |
Het |
| Klf12 |
A |
T |
14: 100,347,226 (GRCm39) |
L35H |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Ksr1 |
A |
T |
11: 78,911,602 (GRCm39) |
C727S |
possibly damaging |
Het |
| Lpin3 |
G |
T |
2: 160,737,259 (GRCm39) |
R102L |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,058,117 (GRCm39) |
E229G |
probably damaging |
Het |
| Ly6f |
T |
A |
15: 75,141,648 (GRCm39) |
Y30* |
probably null |
Het |
| Map2k7 |
C |
G |
8: 4,293,957 (GRCm39) |
R168G |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,805,867 (GRCm39) |
E100G |
probably benign |
Het |
| Mrgpra6 |
T |
A |
7: 46,838,967 (GRCm39) |
Y46F |
probably damaging |
Het |
| Mroh6 |
C |
A |
15: 75,759,905 (GRCm39) |
R143L |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,156,293 (GRCm39) |
H713Q |
probably benign |
Het |
| Ndn |
C |
T |
7: 61,998,337 (GRCm39) |
P61L |
possibly damaging |
Het |
| Or51b6 |
G |
T |
7: 103,556,200 (GRCm39) |
V182F |
|
Het |
| Pear1 |
T |
A |
3: 87,666,488 (GRCm39) |
T72S |
possibly damaging |
Het |
| Sell |
A |
T |
1: 163,894,218 (GRCm39) |
T171S |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,907 (GRCm39) |
M1K |
probably null |
Het |
| Sin3b |
G |
T |
8: 73,450,681 (GRCm39) |
A37S |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,434,399 (GRCm39) |
F723S |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,863,588 (GRCm39) |
T724A |
probably damaging |
Het |
| Slc51a |
T |
G |
16: 32,305,013 (GRCm39) |
N25H |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,612 (GRCm39) |
F752L |
probably benign |
Het |
| Slco4a1 |
A |
C |
2: 180,115,370 (GRCm39) |
D649A |
probably benign |
Het |
| Tax1bp1 |
T |
A |
6: 52,743,029 (GRCm39) |
H805Q |
probably damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
| Tsg101 |
A |
T |
7: 46,563,151 (GRCm39) |
D34E |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,661,359 (GRCm39) |
S604P |
probably damaging |
Het |
| Ttll2 |
C |
A |
17: 7,619,692 (GRCm39) |
W78C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,749,334 (GRCm39) |
F3905S |
possibly damaging |
Het |
| Txnrd2 |
G |
T |
16: 18,248,615 (GRCm39) |
C57F |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,837,452 (GRCm39) |
D2697E |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,300,115 (GRCm39) |
V983I |
probably damaging |
Het |
|
| Other mutations in Sel1l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Sel1l3
|
APN |
5 |
53,273,675 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01585:Sel1l3
|
APN |
5 |
53,311,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01717:Sel1l3
|
APN |
5 |
53,357,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01771:Sel1l3
|
APN |
5 |
53,279,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01926:Sel1l3
|
APN |
5 |
53,357,485 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01963:Sel1l3
|
APN |
5 |
53,357,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02000:Sel1l3
|
APN |
5 |
53,302,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Sel1l3
|
APN |
5 |
53,327,747 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02198:Sel1l3
|
APN |
5 |
53,297,141 (GRCm39) |
splice site |
probably benign |
|
|
IGL02930:Sel1l3
|
APN |
5 |
53,280,559 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03146:Sel1l3
|
APN |
5 |
53,311,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03175:Sel1l3
|
APN |
5 |
53,279,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Sel1l3
|
UTSW |
5 |
53,295,244 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0108:Sel1l3
|
UTSW |
5 |
53,295,244 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0108:Sel1l3
|
UTSW |
5 |
53,295,244 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0940:Sel1l3
|
UTSW |
5 |
53,301,379 (GRCm39) |
splice site |
probably benign |
|
|
R1027:Sel1l3
|
UTSW |
5 |
53,302,820 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1117:Sel1l3
|
UTSW |
5 |
53,329,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1145:Sel1l3
|
UTSW |
5 |
53,289,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1145:Sel1l3
|
UTSW |
5 |
53,289,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1146:Sel1l3
|
UTSW |
5 |
53,274,445 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1146:Sel1l3
|
UTSW |
5 |
53,274,445 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1345:Sel1l3
|
UTSW |
5 |
53,357,559 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1370:Sel1l3
|
UTSW |
5 |
53,357,559 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1503:Sel1l3
|
UTSW |
5 |
53,295,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1747:Sel1l3
|
UTSW |
5 |
53,302,887 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1764:Sel1l3
|
UTSW |
5 |
53,327,789 (GRCm39) |
nonsense |
probably null |
|
|
R2872:Sel1l3
|
UTSW |
5 |
53,295,225 (GRCm39) |
nonsense |
probably null |
|
|
R2872:Sel1l3
|
UTSW |
5 |
53,295,225 (GRCm39) |
nonsense |
probably null |
|
|
R3434:Sel1l3
|
UTSW |
5 |
53,274,432 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4043:Sel1l3
|
UTSW |
5 |
53,345,396 (GRCm39) |
nonsense |
probably null |
|
|
R4074:Sel1l3
|
UTSW |
5 |
53,311,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4727:Sel1l3
|
UTSW |
5 |
53,301,525 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4788:Sel1l3
|
UTSW |
5 |
53,289,175 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4900:Sel1l3
|
UTSW |
5 |
53,289,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Sel1l3
|
UTSW |
5 |
53,357,776 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5090:Sel1l3
|
UTSW |
5 |
53,357,388 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5330:Sel1l3
|
UTSW |
5 |
53,343,351 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5456:Sel1l3
|
UTSW |
5 |
53,357,378 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5544:Sel1l3
|
UTSW |
5 |
53,357,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5848:Sel1l3
|
UTSW |
5 |
53,342,150 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6132:Sel1l3
|
UTSW |
5 |
53,357,531 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6188:Sel1l3
|
UTSW |
5 |
53,313,061 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6622:Sel1l3
|
UTSW |
5 |
53,297,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7015:Sel1l3
|
UTSW |
5 |
53,329,916 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7200:Sel1l3
|
UTSW |
5 |
53,301,451 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7271:Sel1l3
|
UTSW |
5 |
53,273,704 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7378:Sel1l3
|
UTSW |
5 |
53,273,751 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7479:Sel1l3
|
UTSW |
5 |
53,274,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7563:Sel1l3
|
UTSW |
5 |
53,343,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7643:Sel1l3
|
UTSW |
5 |
53,280,504 (GRCm39) |
splice site |
probably null |
|
|
R7741:Sel1l3
|
UTSW |
5 |
53,357,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Sel1l3
|
UTSW |
5 |
53,293,227 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7861:Sel1l3
|
UTSW |
5 |
53,301,406 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7904:Sel1l3
|
UTSW |
5 |
53,297,166 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8222:Sel1l3
|
UTSW |
5 |
53,345,296 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8724:Sel1l3
|
UTSW |
5 |
53,293,165 (GRCm39) |
nonsense |
probably null |
|
|
R8788:Sel1l3
|
UTSW |
5 |
53,332,148 (GRCm39) |
nonsense |
probably null |
|
|
R8988:Sel1l3
|
UTSW |
5 |
53,280,771 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9111:Sel1l3
|
UTSW |
5 |
53,279,213 (GRCm39) |
splice site |
probably benign |
|
|
R9153:Sel1l3
|
UTSW |
5 |
53,293,188 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9269:Sel1l3
|
UTSW |
5 |
53,311,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9399:Sel1l3
|
UTSW |
5 |
53,265,486 (GRCm39) |
missense |
probably benign |
|
|
R9630:Sel1l3
|
UTSW |
5 |
53,342,117 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9793:Sel1l3
|
UTSW |
5 |
53,329,924 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9795:Sel1l3
|
UTSW |
5 |
53,329,924 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Sel1l3
|
UTSW |
5 |
53,273,538 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCAATCAGTCTGTGTGAC -3'
(R):5'- CGAGAGCTCTCAAAATGCATTCTC -3'
Sequencing Primer
(F):5'- CTCGGAATATCATTACTGGGAGGC -3'
(R):5'- GAGCTCTCAAAATGCATTCTCTTTAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation