Incidental Mutation 'IGL01405:Slfn3'
| ID |
79780 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slfn3
|
| Ensembl Gene |
ENSMUSG00000018986 |
| Gene Name |
schlafen 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83082156-83105980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83105542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 513
(V513A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019130]
[ENSMUST00000214041]
|
| AlphaFold |
A0A1L1STQ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019130
AA Change: V390A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: V390A
| 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 |
possibly damaging
Transcript: ENSMUST00000214041
AA Change: V513A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216599
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
| Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
| Ddost |
A |
G |
4: 138,039,014 (GRCm39) |
D378G |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,962 (GRCm39) |
R250G |
probably damaging |
Het |
| Gnb1 |
A |
G |
4: 155,627,645 (GRCm39) |
H142R |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,097,304 (GRCm39) |
N765S |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,574,482 (GRCm39) |
I127V |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,461,191 (GRCm39) |
T331M |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
| Tbce |
A |
T |
13: 14,178,280 (GRCm39) |
I370N |
probably damaging |
Het |
| Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,423,480 (GRCm39) |
S152P |
probably damaging |
Het |
| Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
possibly damaging |
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 |
|
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 |
|
R2441:Slfn3
|
UTSW |
11 |
83,103,509 (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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation