Incidental Mutation 'R9399:Sel1l3'
| ID |
710985 |
| 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 # |
R9399 (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 C
at 53265486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 1102
(V1102G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031090
AA Change: V1102G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: V1102G
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
C |
14: 32,384,615 (GRCm39) |
L450R |
probably damaging |
Het |
| 4933427I04Rik |
T |
A |
4: 123,754,413 (GRCm39) |
L109* |
probably null |
Het |
| Amotl2 |
T |
C |
9: 102,606,531 (GRCm39) |
L576P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,618,179 (GRCm39) |
N1891S |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,763,455 (GRCm39) |
H1563L |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,664,588 (GRCm39) |
T732A |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,780,713 (GRCm39) |
I312T |
probably benign |
Het |
| Bcl9 |
C |
T |
3: 97,113,289 (GRCm39) |
M1055I |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,791 (GRCm39) |
N180D |
possibly damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,021 (GRCm39) |
T356S |
probably benign |
Het |
| Cdh18 |
A |
C |
15: 23,173,899 (GRCm39) |
T38P |
probably damaging |
Het |
| Cdk7 |
G |
T |
13: 100,840,988 (GRCm39) |
P308Q |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,468,592 (GRCm39) |
A1715V |
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,367,842 (GRCm39) |
V590D |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,916,584 (GRCm39) |
G364R |
unknown |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Fgfr4 |
C |
T |
13: 55,304,293 (GRCm39) |
T111M |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,739 (GRCm39) |
T190S |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
| Glra3 |
T |
A |
8: 56,542,079 (GRCm39) |
I274N |
probably damaging |
Het |
| Gpsm2 |
G |
A |
3: 108,590,090 (GRCm39) |
R499* |
probably null |
Het |
| Gzme |
T |
A |
14: 56,355,796 (GRCm39) |
D172V |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,717,385 (GRCm39) |
D536E |
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,643,335 (GRCm39) |
T151A |
probably benign |
Het |
| Kctd7 |
T |
C |
5: 130,177,033 (GRCm39) |
Y95H |
probably damaging |
Het |
| Lipe |
A |
T |
7: 25,097,227 (GRCm39) |
C239S |
probably benign |
Het |
| Lpcat3 |
T |
C |
6: 124,640,283 (GRCm39) |
S38P |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,946,082 (GRCm39) |
R1015C |
probably damaging |
Het |
| Midn |
C |
T |
10: 79,992,210 (GRCm39) |
R421* |
probably null |
Het |
| Mmp17 |
A |
T |
5: 129,671,686 (GRCm39) |
K79* |
probably null |
Het |
| Or8b39 |
A |
G |
9: 37,997,020 (GRCm39) |
H296R |
probably benign |
Het |
| Or8k16 |
G |
C |
2: 85,520,395 (GRCm39) |
L207F |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,282,744 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,755,010 (GRCm39) |
V79A |
probably damaging |
Het |
| Prkd3 |
G |
T |
17: 79,264,719 (GRCm39) |
P633H |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,591,794 (GRCm39) |
S294C |
probably damaging |
Het |
| Raph1 |
T |
A |
1: 60,565,154 (GRCm39) |
Q111L |
probably benign |
Het |
| Rufy3 |
A |
T |
5: 88,797,725 (GRCm39) |
N634I |
possibly damaging |
Het |
| Sh2b1 |
AGCTCAGCC |
AGCTCAGCCCCGGGGACCCGCTCAGCC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GG |
GGCACCAGCTCAGCCCCGCG |
7: 126,066,762 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGACCAGCTCAGCCACG |
GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG |
7: 126,066,744 (GRCm39) |
|
probably benign |
Het |
| Slc25a23 |
C |
A |
17: 57,360,930 (GRCm39) |
G165C |
probably damaging |
Het |
| Spata31e1 |
T |
A |
13: 49,940,175 (GRCm39) |
T512S |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,041,658 (GRCm39) |
D585E |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,858,856 (GRCm39) |
T372A |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,214,768 (GRCm39) |
Y250* |
probably null |
Het |
| Vmn2r92 |
T |
A |
17: 18,389,137 (GRCm39) |
S484T |
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 |
|
|
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 |
|
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'- TTTATCAGTGTAACGCCTGGC -3'
(R):5'- AATCCTGGAAGACACGCAG -3'
Sequencing Primer
(F):5'- AGTGTAACGCCTGGCACCAG -3'
(R):5'- GGGATCTTTACAGAGCTATTCCAACC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation