Incidental Mutation 'R3402:Sel1l2'
ID |
259214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sel1l2
|
Ensembl Gene |
ENSMUSG00000074764 |
Gene Name |
sel-1 suppressor of lin-12-like 2 (C. elegans) |
Synonyms |
LOC228684 |
MMRRC Submission |
040621-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.574)
|
Stock # |
R3402 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
140071775-140231626 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140082958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 560
(Y560F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122367]
|
AlphaFold |
Q3V172 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122367
AA Change: Y560F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113800 Gene: ENSMUSG00000074764 AA Change: Y560F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
SEL1
|
107 |
142 |
1.99e2 |
SMART |
SEL1
|
143 |
178 |
3.3e1 |
SMART |
SEL1
|
179 |
214 |
5.7e-1 |
SMART |
SEL1
|
215 |
250 |
6.3e-3 |
SMART |
SEL1
|
297 |
333 |
6.59e-6 |
SMART |
SEL1
|
334 |
370 |
1.32e-5 |
SMART |
SEL1
|
371 |
406 |
4.55e-9 |
SMART |
SEL1
|
407 |
442 |
4.02e-10 |
SMART |
SEL1
|
443 |
478 |
2.72e-7 |
SMART |
Blast:SEL1
|
511 |
550 |
9e-13 |
BLAST |
SEL1
|
551 |
586 |
1.01e-6 |
SMART |
SEL1
|
588 |
623 |
4.55e-9 |
SMART |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2181 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
97% (30/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
A |
T |
5: 89,849,592 (GRCm39) |
F609L |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,691,661 (GRCm39) |
N1642S |
probably damaging |
Het |
Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
Ark2c |
A |
G |
18: 77,652,782 (GRCm39) |
V6A |
probably benign |
Het |
Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,551,229 (GRCm39) |
E2129G |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
T |
2: 20,786,693 (GRCm39) |
H763L |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
Ift25 |
A |
G |
4: 107,130,803 (GRCm39) |
|
probably null |
Het |
Kat2b |
C |
T |
17: 53,972,881 (GRCm39) |
P732S |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,434,719 (GRCm39) |
N387S |
probably benign |
Het |
Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,859,895 (GRCm39) |
I17V |
probably benign |
Het |
Or5b120 |
G |
A |
19: 13,480,312 (GRCm39) |
A202T |
probably benign |
Het |
Pkn1 |
G |
A |
8: 84,396,859 (GRCm39) |
R926W |
probably damaging |
Het |
Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,288,660 (GRCm39) |
T538A |
possibly damaging |
Het |
Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
Slit2 |
T |
C |
5: 48,440,763 (GRCm39) |
Y1212H |
probably damaging |
Het |
Stk3 |
G |
T |
15: 34,945,144 (GRCm39) |
|
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,570,787 (GRCm39) |
S322G |
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
Upk3a |
T |
C |
15: 84,902,384 (GRCm39) |
|
probably null |
Het |
Zfp180 |
G |
A |
7: 23,805,170 (GRCm39) |
V530I |
probably benign |
Het |
|
Other mutations in Sel1l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00587:Sel1l2
|
APN |
2 |
140,085,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01782:Sel1l2
|
APN |
2 |
140,085,855 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02238:Sel1l2
|
APN |
2 |
140,089,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02506:Sel1l2
|
APN |
2 |
140,117,380 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02539:Sel1l2
|
APN |
2 |
140,072,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02999:Sel1l2
|
APN |
2 |
140,072,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03388:Sel1l2
|
APN |
2 |
140,105,284 (GRCm39) |
splice site |
probably benign |
|
IGL02988:Sel1l2
|
UTSW |
2 |
140,090,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R0386:Sel1l2
|
UTSW |
2 |
140,117,361 (GRCm39) |
missense |
probably benign |
0.11 |
R0426:Sel1l2
|
UTSW |
2 |
140,082,832 (GRCm39) |
nonsense |
probably null |
|
R0549:Sel1l2
|
UTSW |
2 |
140,107,802 (GRCm39) |
missense |
probably damaging |
0.99 |
R1404:Sel1l2
|
UTSW |
2 |
140,071,979 (GRCm39) |
splice site |
probably benign |
|
R1502:Sel1l2
|
UTSW |
2 |
140,231,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R1746:Sel1l2
|
UTSW |
2 |
140,127,157 (GRCm39) |
missense |
probably damaging |
0.98 |
R2187:Sel1l2
|
UTSW |
2 |
140,072,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R2233:Sel1l2
|
UTSW |
2 |
140,086,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R2235:Sel1l2
|
UTSW |
2 |
140,086,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Sel1l2
|
UTSW |
2 |
140,071,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4724:Sel1l2
|
UTSW |
2 |
140,082,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R4840:Sel1l2
|
UTSW |
2 |
140,105,390 (GRCm39) |
missense |
probably benign |
0.00 |
R4948:Sel1l2
|
UTSW |
2 |
140,086,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Sel1l2
|
UTSW |
2 |
140,086,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R6058:Sel1l2
|
UTSW |
2 |
140,082,889 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6389:Sel1l2
|
UTSW |
2 |
140,087,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R7031:Sel1l2
|
UTSW |
2 |
140,182,043 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7056:Sel1l2
|
UTSW |
2 |
140,087,334 (GRCm39) |
missense |
probably benign |
0.13 |
R7074:Sel1l2
|
UTSW |
2 |
140,105,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R7213:Sel1l2
|
UTSW |
2 |
140,086,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7348:Sel1l2
|
UTSW |
2 |
140,107,644 (GRCm39) |
missense |
probably benign |
|
R8030:Sel1l2
|
UTSW |
2 |
140,082,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R8100:Sel1l2
|
UTSW |
2 |
140,117,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R8165:Sel1l2
|
UTSW |
2 |
140,104,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R8201:Sel1l2
|
UTSW |
2 |
140,108,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R8343:Sel1l2
|
UTSW |
2 |
140,072,753 (GRCm39) |
missense |
probably benign |
0.03 |
R8968:Sel1l2
|
UTSW |
2 |
140,127,209 (GRCm39) |
missense |
probably benign |
0.14 |
R9038:Sel1l2
|
UTSW |
2 |
140,117,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R9226:Sel1l2
|
UTSW |
2 |
140,097,222 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:Sel1l2
|
UTSW |
2 |
140,090,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTGTCATTATTAGCTTTGAACC -3'
(R):5'- CAATGAAGACTGCTAGCATTAAGC -3'
Sequencing Primer
(F):5'- GCTTTGAACCAATGCAATTACC -3'
(R):5'- GAGTACATGTAATCGTGATATCGAG -3'
|
Posted On |
2015-01-23 |