Incidental Mutation 'R7563:Sel1l3'
| ID |
585249 |
| 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 |
045655-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53343326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 322
(Y322C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031090
AA Change: Y322C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: Y322C
| 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: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,184,464 (GRCm39) |
I98T |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,988,529 (GRCm39) |
I3271T |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,086,304 (GRCm39) |
V70I |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,337,206 (GRCm39) |
S710P |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,347,162 (GRCm39) |
K1064E |
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,944,891 (GRCm39) |
I459F |
probably damaging |
Het |
| Ccnc |
A |
G |
4: 21,732,220 (GRCm39) |
I48V |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,904,667 (GRCm39) |
I358F |
probably benign |
Het |
| Clgn |
A |
T |
8: 84,147,185 (GRCm39) |
N379I |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,121,548 (GRCm39) |
Y248C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,666,100 (GRCm39) |
D352G |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
| Fam219a |
A |
C |
4: 41,569,208 (GRCm39) |
V10G |
probably benign |
Het |
| Fbxl5 |
C |
T |
5: 43,978,891 (GRCm39) |
V20I |
probably benign |
Het |
| Fbxl9 |
A |
G |
8: 106,042,388 (GRCm39) |
C147R |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,059 (GRCm39) |
E469G |
possibly damaging |
Het |
| Glt8d2 |
A |
T |
10: 82,496,659 (GRCm39) |
|
probably null |
Het |
| Grep1 |
A |
T |
17: 23,936,302 (GRCm39) |
F8L |
probably benign |
Het |
| Helt |
T |
C |
8: 46,746,630 (GRCm39) |
|
probably benign |
Het |
| Igkv8-27 |
G |
T |
6: 70,148,887 (GRCm39) |
T89K |
probably benign |
Het |
| Ipo5 |
T |
A |
14: 121,183,567 (GRCm39) |
H1048Q |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,212,464 (GRCm39) |
D28G |
probably damaging |
Het |
| Kcnh4 |
G |
A |
11: 100,632,680 (GRCm39) |
P936S |
probably benign |
Het |
| Klrd1 |
A |
G |
6: 129,570,701 (GRCm39) |
I37M |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,705,271 (GRCm39) |
V1267A |
probably damaging |
Het |
| Marchf1 |
A |
T |
8: 66,920,965 (GRCm39) |
Q214L |
probably damaging |
Het |
| Mlip |
G |
T |
9: 77,020,279 (GRCm39) |
H52N |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,927,021 (GRCm39) |
R229G |
probably benign |
Het |
| Ogfr |
T |
A |
2: 180,234,300 (GRCm39) |
|
probably null |
Het |
| Or4g16 |
T |
C |
2: 111,137,134 (GRCm39) |
F195L |
probably benign |
Het |
| Or5m10 |
T |
A |
2: 85,717,482 (GRCm39) |
Y113N |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,087,541 (GRCm39) |
I636T |
probably benign |
Het |
| Pex5l |
C |
T |
3: 33,008,625 (GRCm39) |
V426I |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,252,006 (GRCm39) |
K384E |
possibly damaging |
Het |
| Pramel22 |
A |
T |
4: 143,380,675 (GRCm39) |
Y449* |
probably null |
Het |
| Prl6a1 |
T |
G |
13: 27,498,221 (GRCm39) |
|
probably null |
Het |
| Prss23 |
A |
T |
7: 89,159,038 (GRCm39) |
W344R |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,697,680 (GRCm39) |
D397E |
probably benign |
Het |
| Qrsl1 |
G |
A |
10: 43,752,513 (GRCm39) |
R437C |
probably damaging |
Het |
| Rab6a |
G |
T |
7: 100,257,404 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
C |
A |
11: 94,912,239 (GRCm39) |
S205R |
probably benign |
Het |
| Slc30a5 |
A |
T |
13: 100,940,480 (GRCm39) |
L669I |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,991,887 (GRCm39) |
L419P |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,101,063 (GRCm39) |
Y642* |
probably null |
Het |
| Tbc1d2b |
A |
C |
9: 90,108,301 (GRCm39) |
F417V |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,907,005 (GRCm39) |
D212G |
probably damaging |
Het |
| Trim39 |
A |
T |
17: 36,571,807 (GRCm39) |
V317E |
probably damaging |
Het |
| Uncx |
G |
A |
5: 139,530,261 (GRCm39) |
R113H |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,256,543 (GRCm39) |
S655G |
probably benign |
Het |
| Vmn2r114 |
C |
T |
17: 23,510,000 (GRCm39) |
V827I |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,200 (GRCm39) |
N349I |
probably benign |
Het |
| Vmn2r3 |
A |
G |
3: 64,182,770 (GRCm39) |
W310R |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,245 (GRCm39) |
W829R |
probably damaging |
Het |
| Zfp574 |
C |
A |
7: 24,780,777 (GRCm39) |
H600N |
possibly 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 |
|
|
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 |
|
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'- TTCTGAGGCCTTAAGGGGAG -3'
(R):5'- ATCCACCCCTTCGTTAGAAAGAAAG -3'
Sequencing Primer
(F):5'- TGGAAGAAACGAGCCTCTCTTTC -3'
(R):5'- GCAATTTACTTGGTCATTGTTAACTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation