Incidental Mutation 'R7479:Sel1l3'
| ID |
579658 |
| 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 |
045553-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
53264425-53370794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53274462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 1006
(P1006Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031090]
|
| AlphaFold |
Q80TS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031090
AA Change: P1006Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: P1006Q
| 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: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,372,142 (GRCm39) |
M81L |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,682,348 (GRCm39) |
T667A |
probably damaging |
Het |
| Anpep |
T |
A |
7: 79,485,118 (GRCm39) |
I623F |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,389,607 (GRCm39) |
I501T |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,895 (GRCm39) |
Y536N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,823,587 (GRCm39) |
Y168C |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C2 |
A |
G |
17: 35,082,441 (GRCm39) |
C647R |
probably damaging |
Het |
| Cnot4 |
G |
A |
6: 35,001,083 (GRCm39) |
T604I |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,896,218 (GRCm39) |
T506I |
unknown |
Het |
| Cr2 |
A |
C |
1: 194,840,718 (GRCm39) |
|
probably null |
Het |
| Ctsm |
A |
T |
13: 61,685,569 (GRCm39) |
V281D |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,870,001 (GRCm39) |
I74V |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,717,590 (GRCm39) |
V529D |
probably damaging |
Het |
| Dlgap3 |
C |
A |
4: 127,088,418 (GRCm39) |
H5N |
possibly damaging |
Het |
| Dusp10 |
C |
A |
1: 183,769,617 (GRCm39) |
H194Q |
probably damaging |
Het |
| Eln |
C |
G |
5: 134,736,429 (GRCm39) |
G753A |
unknown |
Het |
| Emb |
T |
A |
13: 117,385,962 (GRCm39) |
N118K |
possibly damaging |
Het |
| Fam184a |
C |
T |
10: 53,531,110 (GRCm39) |
V755I |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,254,904 (GRCm39) |
I846T |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,681,166 (GRCm39) |
I722F |
probably damaging |
Het |
| Gabrb3 |
T |
A |
7: 57,474,171 (GRCm39) |
D362E |
possibly damaging |
Het |
| Galnt2 |
G |
A |
8: 125,061,077 (GRCm39) |
G357D |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,858,373 (GRCm39) |
S35R |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,924,367 (GRCm39) |
I207T |
possibly damaging |
Het |
| Gm10192 |
A |
T |
4: 97,071,272 (GRCm39) |
N44K |
unknown |
Het |
| Gpd1 |
A |
G |
15: 99,617,984 (GRCm39) |
D123G |
probably benign |
Het |
| Grm2 |
A |
T |
9: 106,531,050 (GRCm39) |
D146E |
possibly damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,676,032 (GRCm39) |
D132G |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,425 (GRCm39) |
G236R |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,714 (GRCm39) |
A1934V |
probably benign |
Het |
| Il7r |
C |
T |
15: 9,513,117 (GRCm39) |
A131T |
probably damaging |
Het |
| Itga6 |
C |
T |
2: 71,668,680 (GRCm39) |
R540* |
probably null |
Het |
| Kcnh2 |
A |
G |
5: 24,530,490 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
C |
T |
4: 120,573,022 (GRCm39) |
A260T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,691,517 (GRCm39) |
N3434S |
|
Het |
| Lrrc41 |
C |
T |
4: 115,946,238 (GRCm39) |
P318S |
probably damaging |
Het |
| Map4 |
G |
A |
9: 109,897,892 (GRCm39) |
G873R |
possibly damaging |
Het |
| Med24 |
A |
G |
11: 98,595,787 (GRCm39) |
I968T |
possibly damaging |
Het |
| Mfap5 |
T |
C |
6: 122,503,821 (GRCm39) |
|
probably null |
Het |
| Mtcl1 |
A |
G |
17: 66,686,485 (GRCm39) |
V807A |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,855,467 (GRCm39) |
S934T |
possibly damaging |
Het |
| Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,088 (GRCm39) |
E258G |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,913,281 (GRCm39) |
V545E |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,882,858 (GRCm39) |
D162G |
possibly damaging |
Het |
| Rhot2 |
A |
G |
17: 26,059,723 (GRCm39) |
L367P |
probably damaging |
Het |
| Ripk2 |
A |
G |
4: 16,155,154 (GRCm39) |
F122L |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,588,941 (GRCm39) |
T1322A |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,853,358 (GRCm39) |
L115Q |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,304,804 (GRCm39) |
N207I |
probably damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,562,831 (GRCm39) |
T669I |
probably damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,847,112 (GRCm39) |
D57V |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,617,887 (GRCm39) |
V306D |
probably benign |
Het |
| Srgap3 |
C |
T |
6: 112,712,794 (GRCm39) |
|
probably null |
Het |
| Tas2r134 |
T |
C |
2: 51,517,541 (GRCm39) |
F7L |
not run |
Het |
| Tbcd |
T |
C |
11: 121,383,431 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,703 (GRCm39) |
A413V |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,857,654 (GRCm39) |
V71A |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,950,928 (GRCm39) |
T1649A |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,935,865 (GRCm39) |
E357G |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,773,327 (GRCm39) |
T1158A |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,568,952 (GRCm39) |
E27314* |
probably null |
Het |
| Vps35 |
G |
T |
8: 85,997,434 (GRCm39) |
T512K |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,396,292 (GRCm39) |
S98R |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp945 |
A |
T |
17: 23,070,340 (GRCm39) |
C541S |
possibly damaging |
Het |
| Zfp976 |
T |
A |
7: 42,262,603 (GRCm39) |
E412D |
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 |
|
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 |
|
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'- ATCAGGGTGATGCTAGCTTG -3'
(R):5'- TGACAAAACCATCTGGCTCTAGG -3'
Sequencing Primer
(F):5'- GAATTAAGGTCAAAGTGTCACCC -3'
(R):5'- CATCTGGCTCTAGGGGCTG -3'
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| Posted On |
2019-10-07 |
Incidental Mutation