Incidental Mutation 'R8788:Sel1l3'
| ID |
670747 |
| 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 |
068607-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8788 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 53332148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 412
(Y412*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031090
AA Change: Y412*
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: Y412*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
T |
10: 69,718,256 (GRCm39) |
L502F |
unknown |
Het |
| Btbd8 |
A |
G |
5: 107,618,853 (GRCm39) |
*252W |
probably null |
Het |
| Btnl9 |
T |
A |
11: 49,066,614 (GRCm39) |
M336L |
probably benign |
Het |
| Cd72 |
T |
C |
4: 43,450,185 (GRCm39) |
E241G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,324,372 (GRCm39) |
N296I |
probably damaging |
Het |
| Celf6 |
C |
A |
9: 59,485,750 (GRCm39) |
S30R |
possibly damaging |
Het |
| Crxos |
T |
C |
7: 15,632,499 (GRCm39) |
Y102H |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,470,513 (GRCm39) |
S2477T |
|
Het |
| Evi2a |
T |
A |
11: 79,418,531 (GRCm39) |
R26S |
probably benign |
Het |
| Ezr |
T |
C |
17: 7,021,392 (GRCm39) |
M182V |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,171,929 (GRCm39) |
A2928D |
possibly damaging |
Het |
| Fetub |
A |
T |
16: 22,758,182 (GRCm39) |
K322* |
probably null |
Het |
| Fscb |
T |
C |
12: 64,518,395 (GRCm39) |
T1024A |
unknown |
Het |
| Gdpd1 |
A |
G |
11: 86,950,318 (GRCm39) |
V85A |
probably damaging |
Het |
| Gm38119 |
G |
T |
3: 92,645,537 (GRCm39) |
P19H |
unknown |
Het |
| Gpr182 |
T |
C |
10: 127,586,529 (GRCm39) |
T141A |
probably benign |
Het |
| Inpp5d |
G |
A |
1: 87,611,484 (GRCm39) |
G312D |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,357,090 (GRCm39) |
|
probably benign |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Maf |
T |
A |
8: 116,432,612 (GRCm39) |
I331F |
probably damaging |
Het |
| Mark3 |
C |
A |
12: 111,613,124 (GRCm39) |
S529R |
probably benign |
Het |
| Mmp10 |
A |
G |
9: 7,502,687 (GRCm39) |
|
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,523,538 (GRCm39) |
E78G |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,119,743 (GRCm39) |
V97A |
probably benign |
Het |
| Or4c116 |
T |
C |
2: 88,942,626 (GRCm39) |
T77A |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,416,109 (GRCm39) |
L339F |
probably benign |
Het |
| Pdgfd |
A |
G |
9: 6,377,000 (GRCm39) |
S365G |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,228,533 (GRCm39) |
M281V |
|
Het |
| Prkg2 |
C |
T |
5: 99,117,839 (GRCm39) |
E501K |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,786,628 (GRCm39) |
I563V |
probably benign |
Het |
| Rfx7 |
T |
C |
9: 72,524,795 (GRCm39) |
S662P |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,806 (GRCm39) |
T252A |
probably benign |
Het |
| Sbf1 |
C |
T |
15: 89,186,062 (GRCm39) |
R984H |
probably damaging |
Het |
| Slc17a6 |
G |
A |
7: 51,298,908 (GRCm39) |
A224T |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,933,570 (GRCm39) |
V425D |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,024 (GRCm39) |
I378T |
probably damaging |
Het |
| Tatdn1 |
T |
C |
15: 58,762,543 (GRCm39) |
*265W |
probably null |
Het |
| Tcaf2 |
A |
G |
6: 42,606,472 (GRCm39) |
L494P |
probably damaging |
Het |
| Tcl1b2 |
T |
C |
12: 105,113,380 (GRCm39) |
L11P |
probably benign |
Het |
| Thrb |
A |
G |
14: 18,002,558 (GRCm38) |
E119G |
probably damaging |
Het |
| Tll2 |
T |
C |
19: 41,109,814 (GRCm39) |
T317A |
probably benign |
Het |
| Tob2 |
AGATGATGA |
AGATGA |
15: 81,735,928 (GRCm39) |
|
probably benign |
Het |
| Upk1b |
A |
G |
16: 38,607,463 (GRCm39) |
L88P |
probably damaging |
Het |
| Uri1 |
T |
C |
7: 37,661,003 (GRCm39) |
I30V |
|
Het |
| Ush2a |
A |
T |
1: 188,475,816 (GRCm39) |
R2918* |
probably null |
Het |
| Vax1 |
T |
C |
19: 59,158,247 (GRCm39) |
D72G |
unknown |
Het |
| Vmn2r38 |
C |
A |
7: 9,078,482 (GRCm39) |
M633I |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,671,790 (GRCm39) |
D581G |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,813,305 (GRCm39) |
F3324L |
|
Het |
| Xrcc6 |
C |
T |
15: 81,911,583 (GRCm39) |
L309F |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,555,761 (GRCm39) |
Y376C |
probably benign |
Het |
| Zfp329 |
T |
C |
7: 12,544,490 (GRCm39) |
T345A |
possibly damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,816 (GRCm39) |
N279K |
unknown |
Het |
| Zfp804b |
T |
C |
5: 6,822,635 (GRCm39) |
M143V |
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 |
|
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 |
|
|
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'- TTCAGTCCGCTTGGGTAAATC -3'
(R):5'- GGATTTATCTCTTCCAGGGCC -3'
Sequencing Primer
(F):5'- CGCTTGGGTAAATCTTTTGTTTACAC -3'
(R):5'- GGCTTAAGTGCTGCAAACC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation