Incidental Mutation 'R4043:Sel1l3'
| ID |
313918 |
| 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 |
041615-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 53345396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 259
(Y259*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031090
AA Change: Y259*
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: Y259*
| 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: ENSMUST00000196435
|
| Meta Mutation Damage Score |
0.9706 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.9%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,409,360 (GRCm39) |
N44D |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,962 (GRCm39) |
F375L |
probably damaging |
Het |
| Bsph1 |
G |
T |
7: 13,192,201 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
G |
9: 5,302,444 (GRCm39) |
D122G |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,521,941 (GRCm39) |
C361Y |
probably benign |
Het |
| Cdc37l1 |
T |
C |
19: 28,968,028 (GRCm39) |
S31P |
possibly damaging |
Het |
| Cdca2 |
A |
T |
14: 67,941,455 (GRCm39) |
M249K |
probably benign |
Het |
| Cfap73 |
C |
T |
5: 120,768,030 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,612,575 (GRCm39) |
L749S |
probably damaging |
Het |
| Cmtr2 |
C |
A |
8: 110,948,462 (GRCm39) |
C257* |
probably null |
Het |
| Col6a4 |
A |
T |
9: 105,949,610 (GRCm39) |
L675* |
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,456,204 (GRCm39) |
D186E |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,619,362 (GRCm39) |
|
probably null |
Het |
| Daglb |
T |
A |
5: 143,472,906 (GRCm39) |
Y354N |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,068,075 (GRCm39) |
S549P |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,843,678 (GRCm39) |
D4389G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
| Gimap1 |
T |
A |
6: 48,720,176 (GRCm39) |
W263R |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,040,383 (GRCm39) |
C594G |
possibly damaging |
Het |
| Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,871,503 (GRCm39) |
D2703G |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,055,245 (GRCm39) |
V222I |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
G |
11: 103,389,479 (GRCm39) |
H1982P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,731,528 (GRCm39) |
L68Q |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,392,870 (GRCm39) |
D422E |
probably damaging |
Het |
| Mpz |
C |
T |
1: 170,987,340 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,215 (GRCm39) |
T1508S |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,338,350 (GRCm39) |
|
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,680,920 (GRCm39) |
N400Y |
possibly damaging |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or6p1 |
T |
C |
1: 174,258,657 (GRCm39) |
I221T |
probably damaging |
Het |
| Or7g35 |
G |
T |
9: 19,496,291 (GRCm39) |
V153F |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,232,824 (GRCm39) |
N1321S |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,920,314 (GRCm39) |
L756Q |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,064,144 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
G |
A |
7: 138,484,145 (GRCm39) |
W265* |
probably null |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Radil |
T |
A |
5: 142,479,988 (GRCm39) |
I471F |
probably benign |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
| Rpl10l |
A |
T |
12: 66,330,977 (GRCm39) |
M52K |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,156,380 (GRCm39) |
S510T |
possibly damaging |
Het |
| Sdad1 |
T |
G |
5: 92,450,553 (GRCm39) |
N194T |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,765,694 (GRCm39) |
|
probably null |
Het |
| Snap91 |
C |
T |
9: 86,659,102 (GRCm39) |
G477D |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Srr |
T |
C |
11: 74,799,947 (GRCm39) |
T202A |
probably benign |
Het |
| Srrm1 |
C |
T |
4: 135,068,242 (GRCm39) |
|
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,276,626 (GRCm39) |
L869Q |
possibly damaging |
Het |
| Ttbk1 |
T |
A |
17: 46,757,688 (GRCm39) |
D982V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,624,501 (GRCm39) |
T15324A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,345,146 (GRCm39) |
D823A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,108 (GRCm39) |
N792K |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,734,023 (GRCm39) |
D2V |
possibly damaging |
Het |
| Zfyve16 |
A |
C |
13: 92,650,271 (GRCm39) |
|
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,195,765 (GRCm39) |
|
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 |
|
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'- AATTCTGCCACTAGCCTGCC -3'
(R):5'- AACCAATAAGGACAGTCTTGCTG -3'
Sequencing Primer
(F):5'- CTGCCAGGTGGTCAGATACAAAC -3'
(R):5'- GGTTCCCGGCTCAGATTCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation