Incidental Mutation 'R6622:Sel1l3'
| ID |
524503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sel1l3
|
| Ensembl Gene |
ENSMUSG00000029189 |
| Gene Name |
sel-1 suppressor of lin-12-like 3 (C. elegans) |
| Synonyms |
2310045A20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53297202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 748
(V748A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031090
AA Change: V748A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: V748A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104128
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
C |
5: 81,942,606 (GRCm39) |
D1412A |
probably benign |
Het |
| Arhgap26 |
A |
G |
18: 39,032,916 (GRCm39) |
|
probably benign |
Het |
| Card14 |
A |
G |
11: 119,224,814 (GRCm39) |
M614V |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,919,961 (GRCm39) |
T509A |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,788,815 (GRCm39) |
D1136G |
probably benign |
Het |
| Cep170 |
T |
A |
1: 176,583,898 (GRCm39) |
Q827L |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,389,801 (GRCm39) |
I349K |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,539 (GRCm39) |
V243E |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,723,960 (GRCm39) |
F93L |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,273,706 (GRCm39) |
A2563D |
probably damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,992,372 (GRCm39) |
C258G |
possibly damaging |
Het |
| Cycs |
G |
A |
6: 50,543,443 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,790,990 (GRCm39) |
H280Q |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,133,619 (GRCm39) |
R79H |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,153,114 (GRCm39) |
S197G |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,446,273 (GRCm39) |
G1456E |
probably benign |
Het |
| Dst |
G |
A |
1: 34,218,332 (GRCm39) |
V1591I |
probably benign |
Het |
| Epha5 |
A |
G |
5: 84,385,387 (GRCm39) |
S315P |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,873 (GRCm39) |
T1012A |
probably benign |
Het |
| Fxr2 |
G |
A |
11: 69,532,416 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
T |
A |
9: 58,765,010 (GRCm39) |
V534E |
unknown |
Het |
| Hrh4 |
A |
G |
18: 13,155,454 (GRCm39) |
Y331C |
probably damaging |
Het |
| Insyn1 |
A |
G |
9: 58,406,533 (GRCm39) |
I148V |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,554,362 (GRCm39) |
H812L |
probably benign |
Het |
| Krt14 |
T |
A |
11: 100,094,786 (GRCm39) |
R451S |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,108 (GRCm39) |
T80A |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,307,305 (GRCm39) |
T383A |
probably damaging |
Het |
| Pcdha9 |
T |
A |
18: 37,131,707 (GRCm39) |
L259M |
possibly damaging |
Het |
| Pdgfd |
T |
C |
9: 6,293,818 (GRCm39) |
C131R |
probably damaging |
Het |
| Prrc2a |
C |
G |
17: 35,374,396 (GRCm39) |
R1418P |
probably damaging |
Het |
| Ptpra |
G |
T |
2: 30,327,589 (GRCm39) |
E114D |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,395,760 (GRCm39) |
C1157S |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,597,397 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Serinc5 |
T |
A |
13: 92,825,194 (GRCm39) |
S208T |
probably benign |
Het |
| Sftpb |
A |
G |
6: 72,282,639 (GRCm39) |
I74V |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 118,999,643 (GRCm39) |
I516S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,951,704 (GRCm39) |
C411Y |
possibly damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,111 (GRCm39) |
L340F |
probably damaging |
Het |
| Tent5a |
G |
T |
9: 85,208,509 (GRCm39) |
R105S |
probably damaging |
Het |
| Tet3 |
G |
A |
6: 83,380,426 (GRCm39) |
P581S |
probably benign |
Het |
| Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,763,385 (GRCm39) |
W296R |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,890,343 (GRCm39) |
L982H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,550,862 (GRCm39) |
R23183I |
possibly damaging |
Het |
| Tuft1 |
T |
A |
3: 94,542,726 (GRCm39) |
Y46F |
probably damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,205,014 (GRCm39) |
M1L |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,319,646 (GRCm39) |
R292G |
possibly damaging |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
| Zp2 |
C |
T |
7: 119,741,136 (GRCm39) |
M129I |
probably benign |
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 |
|
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 |
|
|
R9455:Sel1l3
|
UTSW |
5 |
53,289,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AAATGACTAGTTGCTGCGCCG -3'
(R):5'- GGTGTCTTGAAATACTGCTGAG -3'
Sequencing Primer
(F):5'- TGCTTGCAAGGCTTTCTG -3'
(R):5'- CTGCTGAGTCTAGAACTGATTAAGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation