Incidental Mutation 'R4074:Sel1l3'
ID |
316450 |
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 |
040855-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4074 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53311629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 619
(Y619H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
AlphaFold |
Q80TS8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031090
AA Change: Y619H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031090 Gene: ENSMUSG00000029189 AA Change: Y619H
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196550
|
Meta Mutation Damage Score |
0.2284 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
95% (63/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
C |
2: 19,485,401 (GRCm39) |
E422G |
probably damaging |
Het |
Ace3 |
A |
G |
11: 105,888,040 (GRCm39) |
Y287C |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Albfm1 |
T |
A |
5: 90,740,727 (GRCm39) |
|
probably null |
Het |
Arfgap3 |
C |
T |
15: 83,187,330 (GRCm39) |
A510T |
probably damaging |
Het |
Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
Chgb |
C |
A |
2: 132,635,847 (GRCm39) |
D596E |
possibly damaging |
Het |
Cmtr2 |
T |
A |
8: 110,947,849 (GRCm39) |
F53Y |
possibly damaging |
Het |
Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
Crb2 |
G |
T |
2: 37,676,855 (GRCm39) |
C251F |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,376,120 (GRCm39) |
|
probably benign |
Het |
Cytl1 |
A |
G |
5: 37,892,940 (GRCm39) |
I17V |
unknown |
Het |
D930020B18Rik |
A |
G |
10: 121,492,123 (GRCm39) |
|
probably benign |
Het |
Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Dst |
T |
C |
1: 34,267,542 (GRCm39) |
F4995L |
probably damaging |
Het |
Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
Ero1a |
A |
T |
14: 45,529,893 (GRCm39) |
|
probably null |
Het |
Etl4 |
T |
C |
2: 20,814,030 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Glt6d1 |
T |
C |
2: 25,684,139 (GRCm39) |
D289G |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,844,365 (GRCm39) |
W574R |
probably damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,988 (GRCm39) |
N332D |
probably benign |
Het |
Gnb3 |
T |
A |
6: 124,813,942 (GRCm39) |
E215D |
probably benign |
Het |
Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-4 |
A |
G |
12: 114,451,147 (GRCm39) |
S15P |
possibly damaging |
Het |
Igkv1-133 |
T |
G |
6: 67,702,505 (GRCm39) |
Y74* |
probably null |
Het |
Il17f |
G |
A |
1: 20,847,987 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,274,742 (GRCm39) |
|
probably null |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Lilra6 |
A |
T |
7: 3,917,889 (GRCm39) |
F85Y |
probably benign |
Het |
Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,460,678 (GRCm39) |
I277T |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,119,808 (GRCm39) |
F984S |
probably damaging |
Het |
Naip5 |
G |
A |
13: 100,382,572 (GRCm39) |
R46W |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,168,975 (GRCm39) |
|
probably null |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Pde11a |
C |
T |
2: 76,168,242 (GRCm39) |
R237H |
probably damaging |
Het |
Pdk4 |
T |
C |
6: 5,491,865 (GRCm39) |
N69S |
probably benign |
Het |
Pot1a |
T |
C |
6: 25,752,356 (GRCm39) |
|
probably null |
Het |
Pramel33 |
A |
T |
5: 93,633,057 (GRCm39) |
M50K |
probably damaging |
Het |
Psg23 |
A |
T |
7: 18,341,043 (GRCm39) |
S404T |
possibly damaging |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
Swt1 |
A |
G |
1: 151,270,520 (GRCm39) |
V565A |
probably benign |
Het |
Tesk1 |
A |
G |
4: 43,443,606 (GRCm39) |
I58V |
possibly damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,890,845 (GRCm39) |
N396S |
probably benign |
Het |
Tuba8 |
T |
A |
6: 121,199,756 (GRCm39) |
S147T |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,594,290 (GRCm39) |
D822G |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,304,566 (GRCm39) |
I622F |
probably damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
probably damaging |
Het |
Zmym2 |
T |
C |
14: 57,140,461 (GRCm39) |
L100P |
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 |
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 |
|
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'- GAAGGCCCTGATAACCAAGC -3'
(R):5'- TGATCTCTGCATATGATTGCTTGTC -3'
Sequencing Primer
(F):5'- GGCCCTGATAACCAAGCTGTAAG -3'
(R):5'- CTGCATATGATTGCTTGTCTTTGTG -3'
|
Posted On |
2015-05-15 |