Incidental Mutation 'R1146:Sel1l3'
ID |
165099 |
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 |
039219-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1146 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 53274445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 1012
(F1012I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
AlphaFold |
Q80TS8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031090
AA Change: F1012I
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031090 Gene: ENSMUSG00000029189 AA Change: F1012I
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 |
|
Meta Mutation Damage Score |
0.1251 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.5%
- 10x: 95.4%
- 20x: 88.7%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,679,795 (GRCm39) |
V1848E |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,727,343 (GRCm39) |
K158E |
probably damaging |
Het |
Arrdc4 |
T |
A |
7: 68,389,756 (GRCm39) |
E356D |
probably damaging |
Het |
Asb4 |
A |
G |
6: 5,423,591 (GRCm39) |
N246S |
probably damaging |
Het |
Ccdc150 |
A |
T |
1: 54,404,130 (GRCm39) |
|
probably benign |
Het |
Ctsj |
G |
A |
13: 61,150,312 (GRCm39) |
P230L |
probably benign |
Het |
Dync1i2 |
C |
T |
2: 71,058,164 (GRCm39) |
|
probably benign |
Het |
Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Frg1 |
A |
G |
8: 41,864,254 (GRCm39) |
|
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,206 (GRCm39) |
S217C |
possibly damaging |
Het |
Gaa |
G |
T |
11: 119,165,730 (GRCm39) |
R81L |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,074,341 (GRCm39) |
V368A |
probably benign |
Het |
Gm10774 |
T |
C |
2: 126,551,392 (GRCm39) |
Y29C |
probably benign |
Het |
Gucy1a2 |
T |
A |
9: 3,759,830 (GRCm39) |
N545K |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,796,444 (GRCm39) |
S1939P |
probably benign |
Het |
Ifnk |
T |
C |
4: 35,152,231 (GRCm39) |
I53T |
probably benign |
Het |
Iqub |
G |
A |
6: 24,505,627 (GRCm39) |
L94F |
possibly damaging |
Het |
Kpna1 |
C |
T |
16: 35,853,749 (GRCm39) |
R460* |
probably null |
Het |
Masp1 |
T |
C |
16: 23,310,865 (GRCm39) |
E189G |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,250 (GRCm39) |
I105V |
probably benign |
Het |
Mpi |
A |
G |
9: 57,452,472 (GRCm39) |
|
probably benign |
Het |
Msh2 |
C |
A |
17: 87,987,488 (GRCm39) |
D209E |
probably benign |
Het |
Nsf |
G |
A |
11: 103,719,364 (GRCm39) |
T646I |
probably damaging |
Het |
Or10g9b |
A |
T |
9: 39,917,390 (GRCm39) |
V285D |
possibly damaging |
Het |
Or4c10b |
C |
T |
2: 89,711,550 (GRCm39) |
P127S |
probably damaging |
Het |
Or5b24 |
T |
A |
19: 12,912,329 (GRCm39) |
S76T |
possibly damaging |
Het |
Or6b2 |
G |
A |
1: 92,407,612 (GRCm39) |
H244Y |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,722,374 (GRCm39) |
I327F |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,682,552 (GRCm39) |
D832G |
probably damaging |
Het |
Pax5 |
G |
T |
4: 44,697,512 (GRCm39) |
|
probably benign |
Het |
Pfkfb4 |
A |
G |
9: 108,836,794 (GRCm39) |
E163G |
probably benign |
Het |
Phc1 |
T |
C |
6: 122,300,416 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
Ppfia3 |
A |
C |
7: 45,001,639 (GRCm39) |
D424E |
probably benign |
Het |
Prss16 |
A |
G |
13: 22,191,138 (GRCm39) |
|
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,178,711 (GRCm39) |
|
probably null |
Het |
Rexo1 |
C |
T |
10: 80,380,239 (GRCm39) |
S919N |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,510,032 (GRCm39) |
N1152D |
probably damaging |
Het |
Sema4c |
A |
G |
1: 36,589,646 (GRCm39) |
V539A |
probably benign |
Het |
Sf3b5 |
A |
G |
10: 12,884,575 (GRCm39) |
E70G |
possibly damaging |
Het |
Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
Tor1aip2 |
T |
C |
1: 155,940,483 (GRCm39) |
V263A |
possibly damaging |
Het |
Unc45b |
A |
G |
11: 82,813,733 (GRCm39) |
E380G |
probably damaging |
Het |
Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
Zfp110 |
A |
G |
7: 12,580,721 (GRCm39) |
|
probably null |
Het |
Zfp335 |
G |
A |
2: 164,738,043 (GRCm39) |
A856V |
probably benign |
Het |
Zfp652 |
G |
A |
11: 95,640,608 (GRCm39) |
E178K |
possibly 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 |
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 |
|
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'- CTCAATGGAACGAGAAGAGCACCTG -3'
(R):5'- TGATGATGCAAGGACTCACTTTCCC -3'
Sequencing Primer
(F):5'- GGTTCTCTAACAGATACAATTCTGGC -3'
(R):5'- AAAGGTGGCTCGCTTTCC -3'
|
Posted On |
2014-03-28 |