Incidental Mutation 'R5448:Slfn3'
| ID |
429187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn3
|
| Ensembl Gene |
ENSMUSG00000018986 |
| Gene Name |
schlafen 3 |
| Synonyms |
|
| MMRRC Submission |
043013-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5448 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83082156-83105980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83105431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 476
(L476Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019130]
[ENSMUST00000214041]
|
| AlphaFold |
A0A1L1STQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019130
AA Change: L353Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: L353Q
| 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 damaging
Transcript: ENSMUST00000214041
AA Change: L476Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216599
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,913,239 (GRCm39) |
D699G |
possibly damaging |
Het |
| C1galt1 |
C |
T |
6: 7,866,658 (GRCm39) |
A168V |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,920,913 (GRCm39) |
E953V |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,831,948 (GRCm39) |
D411V |
probably damaging |
Het |
| Cdadc1 |
T |
A |
14: 59,811,275 (GRCm39) |
I412L |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,542,902 (GRCm39) |
N424D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,655,528 (GRCm39) |
I386N |
possibly damaging |
Het |
| Gm9887 |
C |
A |
12: 69,418,865 (GRCm39) |
|
probably benign |
Het |
| Itgae |
T |
C |
11: 73,024,734 (GRCm39) |
|
probably null |
Het |
| Klhl2 |
C |
A |
8: 65,275,642 (GRCm39) |
|
probably null |
Het |
| Krt1 |
T |
A |
15: 101,757,464 (GRCm39) |
K249* |
probably null |
Het |
| L3mbtl2 |
T |
C |
15: 81,568,534 (GRCm39) |
Y513H |
possibly damaging |
Het |
| Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,437 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4c112 |
T |
G |
2: 88,853,845 (GRCm39) |
L167F |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,888 (GRCm39) |
T188A |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,121,623 (GRCm39) |
E77G |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,922,638 (GRCm39) |
I603V |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,768,361 (GRCm39) |
V2212A |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,925,430 (GRCm39) |
A70T |
probably benign |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Prrx1 |
T |
C |
1: 163,075,867 (GRCm39) |
E233G |
probably damaging |
Het |
| Rdh16f2 |
C |
T |
10: 127,712,932 (GRCm39) |
T310I |
probably benign |
Het |
| Rfx6 |
T |
C |
10: 51,559,733 (GRCm39) |
S187P |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,517,013 (GRCm39) |
F135I |
probably benign |
Het |
| Shld2 |
G |
A |
14: 33,990,327 (GRCm39) |
T193I |
probably benign |
Het |
| Slc24a1 |
A |
G |
9: 64,855,609 (GRCm39) |
F433L |
probably benign |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Trappc1 |
T |
C |
11: 69,216,361 (GRCm39) |
S136P |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,470,654 (GRCm39) |
E881G |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 40,948,731 (GRCm39) |
|
probably null |
Het |
| Wdtc1 |
G |
A |
4: 133,021,608 (GRCm39) |
A642V |
probably benign |
Het |
| Zdhhc22 |
T |
C |
12: 87,035,341 (GRCm39) |
D37G |
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 |
|
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 |
|
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 |
|
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'- CTCCATTGGGTTGCAAAGTGTG -3'
(R):5'- TTAACTCGGCGCCTAGTTC -3'
Sequencing Primer
(F):5'- CAAAGTGTGGGATTTACAAACTGC -3'
(R):5'- TAGTTCCCCAAGAAGACTGCTGTTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation