Incidental Mutation 'IGL01152:Sel1l3'
| ID |
51211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53273675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 1064
(H1064N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031090
AA Change: H1064N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: H1064N
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
G |
1: 192,515,947 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
G |
A |
5: 9,000,678 (GRCm39) |
V1031M |
probably benign |
Het |
| Abcc4 |
A |
G |
14: 118,836,797 (GRCm39) |
S655P |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,245,820 (GRCm39) |
K121R |
probably damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,358,750 (GRCm39) |
R82* |
probably null |
Het |
| Arhgap31 |
T |
A |
16: 38,422,601 (GRCm39) |
H1155L |
possibly damaging |
Het |
| Atp8a1 |
G |
T |
5: 68,004,549 (GRCm39) |
P2Q |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,631,174 (GRCm39) |
M401V |
possibly damaging |
Het |
| Brca2 |
A |
T |
5: 150,465,855 (GRCm39) |
N1873I |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,789,757 (GRCm39) |
N764S |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Clk1 |
A |
T |
1: 58,452,611 (GRCm39) |
C359S |
possibly damaging |
Het |
| Clk2 |
T |
A |
3: 89,083,818 (GRCm39) |
F479I |
probably damaging |
Het |
| Cul4b |
T |
C |
X: 37,632,247 (GRCm39) |
M709V |
probably damaging |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,620 (GRCm39) |
|
probably null |
Het |
| Dgkb |
T |
A |
12: 38,134,233 (GRCm39) |
N46K |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,962,882 (GRCm39) |
R1811H |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,926 (GRCm39) |
N281S |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,915,405 (GRCm39) |
I654L |
probably benign |
Het |
| Gm9989 |
T |
G |
3: 81,829,518 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,228,237 (GRCm39) |
E1306G |
probably benign |
Het |
| Gsc |
C |
A |
12: 104,437,864 (GRCm39) |
K219N |
probably damaging |
Het |
| Gsx2 |
A |
T |
5: 75,236,452 (GRCm39) |
I11F |
probably damaging |
Het |
| Igdcc4 |
A |
C |
9: 65,042,446 (GRCm39) |
E121A |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,084,425 (GRCm39) |
R915H |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,200,984 (GRCm39) |
L64P |
probably damaging |
Het |
| Lztr1 |
C |
A |
16: 17,340,317 (GRCm39) |
Q136K |
probably damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,430 (GRCm39) |
W271R |
possibly damaging |
Het |
| Magoh |
A |
C |
4: 107,742,203 (GRCm39) |
|
probably benign |
Het |
| Matcap2 |
A |
T |
9: 22,346,460 (GRCm39) |
H356L |
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,234 (GRCm39) |
H171R |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,138,061 (GRCm39) |
T301K |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,410,959 (GRCm39) |
L868F |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,963,872 (GRCm39) |
D1152G |
possibly damaging |
Het |
| Or5p68 |
C |
T |
7: 107,946,156 (GRCm39) |
A11T |
probably benign |
Het |
| Or7d10 |
G |
A |
9: 19,832,245 (GRCm39) |
V247M |
possibly damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,893,488 (GRCm39) |
D420E |
possibly damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,094,121 (GRCm39) |
D350G |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,574,976 (GRCm39) |
N309Y |
probably damaging |
Het |
| Pim2 |
C |
A |
X: 7,744,661 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 134,655,579 (GRCm39) |
Y53C |
probably damaging |
Het |
| Pogk |
T |
C |
1: 166,236,047 (GRCm39) |
E18G |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,051,936 (GRCm39) |
D704E |
probably damaging |
Het |
| Rb1 |
C |
A |
14: 73,443,310 (GRCm39) |
S781I |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,621 (GRCm39) |
H247R |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,497,771 (GRCm39) |
F697I |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,478,831 (GRCm39) |
Y99H |
probably damaging |
Het |
| Slc36a2 |
T |
A |
11: 55,060,673 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
A |
C |
9: 109,968,693 (GRCm39) |
E130A |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,201,276 (GRCm39) |
M1273T |
probably benign |
Het |
| Tmem116 |
A |
G |
5: 121,601,862 (GRCm39) |
I21V |
probably benign |
Het |
| Tmem190 |
T |
C |
7: 4,787,025 (GRCm39) |
|
probably benign |
Het |
| Trim63 |
C |
T |
4: 134,052,987 (GRCm39) |
A316V |
probably benign |
Het |
| Ugt2b34 |
T |
C |
5: 87,049,062 (GRCm39) |
E321G |
probably damaging |
Het |
| Zfat |
T |
A |
15: 67,982,353 (GRCm39) |
R1053S |
probably damaging |
Het |
|
| Other mutations in Sel1l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation