Incidental Mutation 'R4788:Sel1l3'
| ID |
367240 |
| 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 # |
R4788 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53289175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 882
(V882A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031090
AA Change: V882A
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: V882A
| 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: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,960,361 (GRCm39) |
D815N |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,566,456 (GRCm39) |
C1135* |
probably null |
Het |
| Ap3b1 |
G |
A |
13: 94,702,149 (GRCm39) |
M1067I |
unknown |
Het |
| Arhgap15 |
T |
C |
2: 43,638,902 (GRCm39) |
M1T |
probably null |
Het |
| Boc |
T |
C |
16: 44,320,796 (GRCm39) |
D288G |
probably damaging |
Het |
| Brsk1 |
G |
T |
7: 4,701,954 (GRCm39) |
|
probably null |
Het |
| Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
| Capn13 |
A |
T |
17: 73,644,427 (GRCm39) |
Y367* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,777,185 (GRCm39) |
E632G |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,071,565 (GRCm39) |
S591P |
probably damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,190,427 (GRCm39) |
V118A |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,693,289 (GRCm39) |
N157S |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,700,672 (GRCm39) |
|
probably null |
Het |
| Coq2 |
A |
T |
5: 100,805,775 (GRCm39) |
V287E |
probably damaging |
Het |
| Cpa6 |
T |
C |
1: 10,478,502 (GRCm39) |
K278R |
possibly damaging |
Het |
| Cracdl |
A |
T |
1: 37,670,556 (GRCm39) |
I128K |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,921,892 (GRCm39) |
Y347* |
probably null |
Het |
| Dcun1d4 |
G |
T |
5: 73,691,971 (GRCm39) |
W160L |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,738,200 (GRCm39) |
T994A |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,582,760 (GRCm39) |
T229A |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,106,513 (GRCm39) |
R1741S |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,747,213 (GRCm39) |
V1508D |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,484,721 (GRCm39) |
T117A |
possibly damaging |
Het |
| Dtnb |
A |
G |
12: 3,822,699 (GRCm39) |
D533G |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,495 (GRCm39) |
N470S |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,275,706 (GRCm39) |
V1105E |
unknown |
Het |
| Fry |
T |
C |
5: 150,323,101 (GRCm39) |
V1084A |
probably benign |
Het |
| Gabra1 |
G |
T |
11: 42,037,980 (GRCm39) |
R213S |
probably damaging |
Het |
| Gbp2b |
A |
C |
3: 142,317,171 (GRCm39) |
K509T |
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,491,104 (GRCm39) |
T811A |
probably benign |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,400 (GRCm39) |
D101G |
probably damaging |
Het |
| Ifna11 |
G |
A |
4: 88,738,245 (GRCm39) |
W17* |
probably null |
Het |
| Ighv1-62-3 |
T |
A |
12: 115,424,672 (GRCm39) |
M100L |
probably benign |
Het |
| Lgmn |
T |
A |
12: 102,368,936 (GRCm39) |
Y181F |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,043,076 (GRCm39) |
S644P |
probably benign |
Het |
| Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,397,461 (GRCm39) |
A903T |
probably benign |
Het |
| Nop53 |
T |
C |
7: 15,676,240 (GRCm39) |
E153G |
possibly damaging |
Het |
| Nop56 |
G |
T |
2: 130,120,820 (GRCm39) |
V190L |
probably benign |
Het |
| Nyap2 |
A |
T |
1: 81,247,112 (GRCm39) |
M687L |
probably benign |
Het |
| Or4a81 |
G |
A |
2: 89,619,480 (GRCm39) |
S72F |
probably damaging |
Het |
| Or8g17 |
T |
C |
9: 38,930,217 (GRCm39) |
T207A |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,908 (GRCm39) |
T145A |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,813,320 (GRCm39) |
K183R |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,208,124 (GRCm39) |
Q244R |
possibly damaging |
Het |
| Pcdh9 |
C |
A |
14: 94,124,851 (GRCm39) |
V317F |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,417 (GRCm39) |
Q489L |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,286,675 (GRCm39) |
S164R |
probably benign |
Het |
| Ptf1a |
T |
C |
2: 19,450,762 (GRCm39) |
S31P |
probably benign |
Het |
| Rasal3 |
A |
T |
17: 32,618,312 (GRCm39) |
D164E |
probably benign |
Het |
| Rnf170 |
A |
G |
8: 26,630,891 (GRCm39) |
E168G |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,656,778 (GRCm39) |
|
probably null |
Het |
| Sec16b |
A |
T |
1: 157,389,094 (GRCm39) |
T830S |
possibly damaging |
Het |
| Sfpq |
A |
G |
4: 126,919,791 (GRCm39) |
E512G |
probably damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,302,518 (GRCm39) |
L187P |
probably damaging |
Het |
| Skint6 |
C |
T |
4: 113,095,533 (GRCm39) |
G42D |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,367,023 (GRCm39) |
I526V |
probably benign |
Het |
| Spmip7 |
T |
C |
11: 11,438,652 (GRCm39) |
|
probably null |
Het |
| Ssh2 |
A |
T |
11: 77,320,624 (GRCm39) |
N328Y |
probably damaging |
Het |
| Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
| Tom1l2 |
A |
G |
11: 60,139,844 (GRCm39) |
L275P |
probably damaging |
Het |
| Trgv5 |
A |
G |
13: 19,376,724 (GRCm39) |
K57R |
probably benign |
Het |
| Tyrp1 |
C |
T |
4: 80,763,180 (GRCm39) |
R356* |
probably null |
Het |
| Zan |
A |
G |
5: 137,440,375 (GRCm39) |
L1953P |
unknown |
Het |
| Zfhx3 |
T |
C |
8: 109,520,842 (GRCm39) |
S655P |
probably damaging |
Het |
| Zmym1 |
T |
C |
4: 126,948,090 (GRCm39) |
T94A |
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 |
|
|
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'- TACTGGGAGGCTGTGATTTCCC -3'
(R):5'- AGGACATTGAACGAGAGCTCTC -3'
Sequencing Primer
(F):5'- AGGCTGTGATTTCCCTGTAAATTGC -3'
(R):5'- TTGAACGAGAGCTCTCAAAATGC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation