Incidental Mutation 'R5090:Sel1l3'
| ID |
387687 |
| 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 |
042679-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5090 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53357388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 201
(H201Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031090
AA Change: H201Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: H201Q
| 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: ENSMUST00000199919
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,984,422 (GRCm39) |
S1168G |
probably damaging |
Het |
| Acsf2 |
A |
T |
11: 94,462,095 (GRCm39) |
|
probably null |
Het |
| Ankk1 |
G |
T |
9: 49,333,063 (GRCm39) |
S140R |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,960,184 (GRCm39) |
K2305N |
probably damaging |
Het |
| Asnsd1 |
C |
T |
1: 53,391,563 (GRCm39) |
|
probably benign |
Het |
| Atxn7l1 |
T |
C |
12: 33,376,077 (GRCm39) |
S51P |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,920,439 (GRCm39) |
L394P |
probably damaging |
Het |
| Cd200r1 |
T |
A |
16: 44,609,924 (GRCm39) |
S48T |
possibly damaging |
Het |
| Cemip |
T |
C |
7: 83,591,343 (GRCm39) |
E1243G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,993,617 (GRCm39) |
H1977Q |
possibly damaging |
Het |
| Cep250 |
T |
C |
2: 155,818,324 (GRCm39) |
L833P |
probably damaging |
Het |
| Chd9 |
C |
A |
8: 91,753,462 (GRCm39) |
Y1818* |
probably null |
Het |
| Clca3a1 |
C |
A |
3: 144,443,633 (GRCm39) |
V706L |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,865,830 (GRCm39) |
V162A |
probably damaging |
Het |
| Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
| Cux1 |
T |
A |
5: 136,342,054 (GRCm39) |
N446I |
possibly damaging |
Het |
| Dlg1 |
G |
T |
16: 31,656,902 (GRCm39) |
G599W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,879,648 (GRCm39) |
V969I |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,033,237 (GRCm39) |
C74R |
probably damaging |
Het |
| Fads6 |
T |
A |
11: 115,187,480 (GRCm39) |
T72S |
probably benign |
Het |
| Fra10ac1 |
C |
T |
19: 38,202,873 (GRCm39) |
R110Q |
probably damaging |
Het |
| Gdf3 |
T |
A |
6: 122,586,713 (GRCm39) |
L71F |
probably benign |
Het |
| Gm6685 |
A |
G |
11: 28,289,253 (GRCm39) |
Y188H |
probably benign |
Het |
| Gm6981 |
A |
C |
9: 51,914,142 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpda1 |
T |
C |
18: 38,465,146 (GRCm39) |
T157A |
probably damaging |
Het |
| Grap2 |
A |
C |
15: 80,522,683 (GRCm39) |
N70H |
possibly damaging |
Het |
| Gvin3 |
T |
A |
7: 106,200,109 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac5 |
G |
A |
11: 102,088,539 (GRCm39) |
R887C |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,857,435 (GRCm39) |
|
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,787,098 (GRCm39) |
K162E |
probably benign |
Het |
| Inpp5e |
A |
T |
2: 26,289,383 (GRCm39) |
|
probably null |
Het |
| Kifap3 |
A |
G |
1: 163,683,645 (GRCm39) |
D442G |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,675,459 (GRCm39) |
T1015A |
possibly damaging |
Het |
| Lcp2 |
T |
A |
11: 34,039,725 (GRCm39) |
Y508* |
probably null |
Het |
| Map1b |
G |
T |
13: 99,566,534 (GRCm39) |
Y2062* |
probably null |
Het |
| Mipep |
A |
G |
14: 61,039,748 (GRCm39) |
D259G |
possibly damaging |
Het |
| Mmp2 |
T |
C |
8: 93,579,202 (GRCm39) |
F97S |
probably damaging |
Het |
| Mrpl18 |
A |
C |
17: 13,132,697 (GRCm39) |
M144R |
probably damaging |
Het |
| Nek9 |
A |
G |
12: 85,376,616 (GRCm39) |
|
probably null |
Het |
| Nmral1 |
A |
T |
16: 4,532,395 (GRCm39) |
Y139N |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,799,894 (GRCm39) |
C952R |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,801,404 (GRCm39) |
N204D |
probably benign |
Het |
| P2rx4 |
A |
T |
5: 122,863,118 (GRCm39) |
D197V |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,929,338 (GRCm39) |
I615N |
probably damaging |
Het |
| Parp10 |
T |
C |
15: 76,125,925 (GRCm39) |
D421G |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,101,770 (GRCm39) |
D321V |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,270,981 (GRCm39) |
I3191F |
probably damaging |
Het |
| Psmd4 |
T |
C |
3: 94,942,559 (GRCm39) |
N7S |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,361,950 (GRCm39) |
V2084A |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,415 (GRCm39) |
E263G |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,637,511 (GRCm39) |
|
probably benign |
Het |
| Sacs |
T |
C |
14: 61,442,702 (GRCm39) |
F1583L |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,111,108 (GRCm39) |
T55A |
unknown |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
| Trim55 |
A |
G |
3: 19,725,771 (GRCm39) |
N313S |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,290 (GRCm39) |
D212E |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,355,814 (GRCm39) |
E3525G |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,637,006 (GRCm39) |
T1379A |
probably benign |
Het |
| Zfp553 |
A |
T |
7: 126,834,659 (GRCm39) |
E71D |
probably damaging |
Het |
| Znrf1 |
T |
G |
8: 112,265,035 (GRCm39) |
F21V |
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 |
|
|
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 |
|
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'- CTGCTGTTGTGCGATGACAC -3'
(R):5'- GGAATGAGAAGCATCTTCACAC -3'
Sequencing Primer
(F):5'- ACAAGAATGTGCTGTGCCAC -3'
(R):5'- TCTTCACACCAGCAGGACG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation