Incidental Mutation 'R0940:Sel1l3'
ID |
81383 |
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 |
039079-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0940 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 53301379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
AlphaFold |
Q80TS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031090
|
SMART Domains |
Protein: ENSMUSP00000031090 Gene: ENSMUSG00000029189
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196435
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
2610021A01Rik |
T |
G |
7: 41,275,858 (GRCm39) |
I520M |
probably damaging |
Het |
Ackr4 |
A |
G |
9: 103,976,831 (GRCm39) |
F39L |
probably damaging |
Het |
Adgre5 |
C |
T |
8: 84,460,126 (GRCm39) |
S92N |
probably damaging |
Het |
Adrb2 |
T |
C |
18: 62,312,762 (GRCm39) |
D21G |
probably benign |
Het |
Akr1c6 |
G |
A |
13: 4,486,372 (GRCm39) |
E60K |
probably benign |
Het |
Bcl7c |
T |
A |
7: 127,306,503 (GRCm39) |
N96I |
possibly damaging |
Het |
Brca1 |
A |
T |
11: 101,422,969 (GRCm39) |
S106R |
possibly damaging |
Het |
C6 |
A |
T |
15: 4,764,717 (GRCm39) |
T138S |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,300,564 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
T |
A |
17: 31,022,217 (GRCm39) |
M3939K |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,681,626 (GRCm39) |
|
probably benign |
Het |
Dsc2 |
T |
G |
18: 20,183,116 (GRCm39) |
T101P |
probably damaging |
Het |
Dynlt1b |
T |
C |
17: 6,697,649 (GRCm39) |
|
probably benign |
Het |
E330013P04Rik |
A |
G |
19: 60,150,354 (GRCm39) |
|
noncoding transcript |
Het |
Fggy |
A |
G |
4: 95,585,238 (GRCm39) |
E39G |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,572,797 (GRCm39) |
V952A |
possibly damaging |
Het |
Fmo6 |
A |
T |
1: 162,753,795 (GRCm39) |
C116S |
probably benign |
Het |
Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
Gmps |
A |
G |
3: 63,883,743 (GRCm39) |
|
probably benign |
Het |
Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
Hnrnpm |
G |
A |
17: 33,868,976 (GRCm39) |
R523C |
probably damaging |
Het |
Inpp5a |
T |
C |
7: 139,105,654 (GRCm39) |
Y202H |
probably damaging |
Het |
Kank3 |
C |
T |
17: 34,036,450 (GRCm39) |
S106F |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,305,658 (GRCm39) |
D253G |
probably benign |
Het |
Lrrk2 |
A |
T |
15: 91,613,284 (GRCm39) |
I803F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,500,129 (GRCm39) |
|
probably benign |
Het |
Myh4 |
A |
T |
11: 67,133,689 (GRCm39) |
N243Y |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,497,996 (GRCm39) |
Y545H |
probably damaging |
Het |
Nfatc1 |
C |
T |
18: 80,679,110 (GRCm39) |
M759I |
probably benign |
Het |
Nipal4 |
A |
G |
11: 46,041,139 (GRCm39) |
I352T |
possibly damaging |
Het |
Nomo1 |
A |
G |
7: 45,683,329 (GRCm39) |
E25G |
possibly damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,020 (GRCm39) |
S255P |
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,903,065 (GRCm39) |
I151T |
probably benign |
Het |
Or14j7 |
A |
G |
17: 38,234,591 (GRCm39) |
I45V |
probably damaging |
Het |
Or1e32 |
T |
C |
11: 73,705,050 (GRCm39) |
N286S |
probably damaging |
Het |
Or4c116 |
T |
A |
2: 88,942,419 (GRCm39) |
I146L |
probably benign |
Het |
Or5p66 |
T |
C |
7: 107,886,264 (GRCm39) |
D23G |
probably benign |
Het |
Pabpn1l |
A |
G |
8: 123,349,183 (GRCm39) |
V78A |
probably benign |
Het |
Pde6b |
T |
A |
5: 108,568,203 (GRCm39) |
I327N |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,834,768 (GRCm39) |
|
probably benign |
Het |
Pkm |
C |
T |
9: 59,575,818 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
G |
A |
1: 194,482,863 (GRCm39) |
V1519I |
probably benign |
Het |
Ppp2cb |
T |
C |
8: 34,105,689 (GRCm39) |
|
probably null |
Het |
Prickle2 |
A |
G |
6: 92,387,984 (GRCm39) |
Y473H |
probably benign |
Het |
Prpf3 |
A |
G |
3: 95,751,535 (GRCm39) |
W389R |
probably damaging |
Het |
Psme4 |
G |
A |
11: 30,765,264 (GRCm39) |
E544K |
possibly damaging |
Het |
Relb |
A |
T |
7: 19,345,767 (GRCm39) |
D395E |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,307,389 (GRCm39) |
N683S |
probably benign |
Het |
Rtel1 |
T |
C |
2: 180,964,596 (GRCm39) |
C102R |
probably benign |
Het |
Slc8a2 |
A |
G |
7: 15,878,887 (GRCm39) |
T458A |
probably benign |
Het |
Smc3 |
T |
A |
19: 53,629,340 (GRCm39) |
M931K |
probably benign |
Het |
Sorbs2 |
T |
C |
8: 46,249,539 (GRCm39) |
V795A |
probably benign |
Het |
Tgm3 |
A |
G |
2: 129,854,326 (GRCm39) |
S2G |
probably benign |
Het |
Tpbpa |
T |
C |
13: 61,087,867 (GRCm39) |
T75A |
probably damaging |
Het |
Trub1 |
A |
G |
19: 57,473,495 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,328,604 (GRCm39) |
|
probably null |
Het |
Ugt2a3 |
A |
G |
5: 87,475,065 (GRCm39) |
V393A |
possibly damaging |
Het |
Vav3 |
T |
A |
3: 109,470,151 (GRCm39) |
M532K |
possibly damaging |
Het |
Zfp616 |
A |
T |
11: 73,975,850 (GRCm39) |
K706N |
probably damaging |
Het |
Zkscan1 |
T |
C |
5: 138,091,432 (GRCm39) |
F55S |
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 |
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 |
|
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'- TGAACCAGTGACAAACGTGCGG -3'
(R):5'- AGCAACGATTGGCTCAGATGCTC -3'
Sequencing Primer
(F):5'- GTGTCACCTTCAGAATGTCACAG -3'
(R):5'- CTCAGATGCTCTTCTGGGGAC -3'
|
Posted On |
2013-11-07 |