Incidental Mutation 'R2441:Slfn3'
ID |
249789 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn3
|
Ensembl Gene |
ENSMUSG00000018986 |
Gene Name |
schlafen 3 |
Synonyms |
|
MMRRC Submission |
040399-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2441 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
83082156-83105980 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83103509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 127
(I127V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019130]
[ENSMUST00000214041]
|
AlphaFold |
A0A1L1STQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019130
AA Change: I4V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000019130 Gene: ENSMUSG00000018986 AA Change: I4V
Domain | Start | End | E-Value | Type |
Pfam:AlbA_2
|
165 |
303 |
5.5e-11 |
PFAM |
low complexity region
|
394 |
412 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214041
AA Change: I127V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216599
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal immune cell populations. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(3)
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,385,449 (GRCm39) |
N172S |
possibly damaging |
Het |
AY358078 |
A |
G |
14: 52,037,546 (GRCm39) |
H15R |
probably benign |
Het |
Boc |
A |
G |
16: 44,308,986 (GRCm39) |
V842A |
probably damaging |
Het |
Chuk |
T |
A |
19: 44,085,360 (GRCm39) |
N262I |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,526,232 (GRCm39) |
L590Q |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,815,685 (GRCm39) |
H3806L |
possibly damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,952,761 (GRCm39) |
D224G |
probably damaging |
Het |
Hgf |
A |
T |
5: 16,809,788 (GRCm39) |
H426L |
probably damaging |
Het |
Nrxn2 |
G |
T |
19: 6,478,331 (GRCm39) |
G85W |
probably damaging |
Het |
Ntrk3 |
A |
T |
7: 77,952,410 (GRCm39) |
N602K |
probably damaging |
Het |
Or13p10 |
G |
A |
4: 118,523,332 (GRCm39) |
G206D |
possibly damaging |
Het |
Or5p51 |
T |
C |
7: 107,444,185 (GRCm39) |
T252A |
probably benign |
Het |
P3h4 |
G |
A |
11: 100,304,594 (GRCm39) |
R216W |
probably damaging |
Het |
Pced1b |
T |
A |
15: 97,282,166 (GRCm39) |
D68E |
possibly damaging |
Het |
Pzp |
A |
T |
6: 128,466,731 (GRCm39) |
L1161* |
probably null |
Het |
Rprd1a |
A |
T |
18: 24,640,257 (GRCm39) |
L173* |
probably null |
Het |
Sp100 |
A |
G |
1: 85,631,210 (GRCm39) |
|
probably benign |
Het |
Tbx15 |
T |
G |
3: 99,259,827 (GRCm39) |
M566R |
probably damaging |
Het |
Tesmin |
G |
A |
19: 3,452,577 (GRCm39) |
|
probably null |
Het |
Tmem132a |
A |
G |
19: 10,837,501 (GRCm39) |
V603A |
probably damaging |
Het |
Tob2 |
G |
T |
15: 81,735,923 (GRCm39) |
Y15* |
probably null |
Het |
Trim23 |
A |
T |
13: 104,328,583 (GRCm39) |
Q307L |
probably damaging |
Het |
Trpc4 |
A |
T |
3: 54,129,704 (GRCm39) |
I157L |
probably damaging |
Het |
Tsen34 |
A |
T |
7: 3,697,994 (GRCm39) |
K87N |
possibly damaging |
Het |
Ubr5 |
A |
G |
15: 37,989,589 (GRCm39) |
S2076P |
probably damaging |
Het |
Vmn2r59 |
C |
T |
7: 41,695,570 (GRCm39) |
V281I |
probably benign |
Het |
Vwa3b |
T |
C |
1: 37,182,150 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
C |
T |
6: 125,013,612 (GRCm39) |
P544L |
probably benign |
Het |
|
Other mutations in Slfn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00843:Slfn3
|
APN |
11 |
83,104,257 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01405:Slfn3
|
APN |
11 |
83,105,542 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01631:Slfn3
|
APN |
11 |
83,104,361 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01944:Slfn3
|
APN |
11 |
83,103,974 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02354:Slfn3
|
APN |
11 |
83,104,068 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02361:Slfn3
|
APN |
11 |
83,104,068 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02512:Slfn3
|
APN |
11 |
83,103,851 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02875:Slfn3
|
APN |
11 |
83,104,253 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02944:Slfn3
|
APN |
11 |
83,103,837 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03402:Slfn3
|
APN |
11 |
83,104,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0452:Slfn3
|
UTSW |
11 |
83,103,954 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0506:Slfn3
|
UTSW |
11 |
83,103,986 (GRCm39) |
missense |
probably damaging |
0.99 |
R0560:Slfn3
|
UTSW |
11 |
83,103,978 (GRCm39) |
missense |
probably damaging |
0.99 |
R0788:Slfn3
|
UTSW |
11 |
83,103,662 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1602:Slfn3
|
UTSW |
11 |
83,103,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Slfn3
|
UTSW |
11 |
83,104,140 (GRCm39) |
missense |
probably damaging |
0.98 |
R1881:Slfn3
|
UTSW |
11 |
83,104,202 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2264:Slfn3
|
UTSW |
11 |
83,103,798 (GRCm39) |
missense |
probably benign |
0.00 |
R2921:Slfn3
|
UTSW |
11 |
83,105,871 (GRCm39) |
missense |
probably benign |
0.01 |
R4163:Slfn3
|
UTSW |
11 |
83,103,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R5099:Slfn3
|
UTSW |
11 |
83,105,764 (GRCm39) |
missense |
probably damaging |
0.98 |
R5448:Slfn3
|
UTSW |
11 |
83,105,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R6441:Slfn3
|
UTSW |
11 |
83,105,740 (GRCm39) |
missense |
probably benign |
0.00 |
R6527:Slfn3
|
UTSW |
11 |
83,103,932 (GRCm39) |
missense |
probably benign |
0.01 |
R6785:Slfn3
|
UTSW |
11 |
83,105,427 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7128:Slfn3
|
UTSW |
11 |
83,105,721 (GRCm39) |
missense |
probably benign |
0.00 |
R7344:Slfn3
|
UTSW |
11 |
83,103,648 (GRCm39) |
missense |
probably benign |
0.28 |
R7528:Slfn3
|
UTSW |
11 |
83,105,731 (GRCm39) |
missense |
probably benign |
0.01 |
R7763:Slfn3
|
UTSW |
11 |
83,105,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8155:Slfn3
|
UTSW |
11 |
83,103,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R8178:Slfn3
|
UTSW |
11 |
83,105,505 (GRCm39) |
missense |
probably benign |
0.33 |
R8210:Slfn3
|
UTSW |
11 |
83,105,332 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8347:Slfn3
|
UTSW |
11 |
83,104,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8671:Slfn3
|
UTSW |
11 |
83,103,825 (GRCm39) |
missense |
probably benign |
0.00 |
R9093:Slfn3
|
UTSW |
11 |
83,103,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R9106:Slfn3
|
UTSW |
11 |
83,103,458 (GRCm39) |
missense |
probably benign |
0.00 |
R9293:Slfn3
|
UTSW |
11 |
83,105,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9362:Slfn3
|
UTSW |
11 |
83,103,807 (GRCm39) |
missense |
probably benign |
|
R9521:Slfn3
|
UTSW |
11 |
83,103,825 (GRCm39) |
missense |
probably benign |
|
R9522:Slfn3
|
UTSW |
11 |
83,103,825 (GRCm39) |
missense |
probably benign |
|
R9644:Slfn3
|
UTSW |
11 |
83,105,728 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Slfn3
|
UTSW |
11 |
83,104,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTGAGATGGTTGTGCTC -3'
(R):5'- GTCATGAGGAAGGTGCATGATACC -3'
Sequencing Primer
(F):5'- GCAGAATTGCCTCTAACTGTG -3'
(R):5'- TGCATGATACCGGGTAAGGAATTTAC -3'
|
Posted On |
2014-11-12 |