Incidental Mutation 'R6441:Slfn3'
| ID |
519028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn3
|
| Ensembl Gene |
ENSMUSG00000018986 |
| Gene Name |
schlafen 3 |
| Synonyms |
|
| MMRRC Submission |
044579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6441 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83082156-83105980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83105740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 579
(T579I)
|
| 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: T456I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: T456I
| 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: T579I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216599
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,565,108 (GRCm39) |
M1047K |
probably benign |
Het |
| Apob |
A |
T |
12: 8,037,796 (GRCm39) |
D322V |
probably damaging |
Het |
| Capn12 |
T |
A |
7: 28,587,427 (GRCm39) |
C438S |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,143,815 (GRCm39) |
V2932E |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
| Cimap1a |
T |
C |
7: 140,429,161 (GRCm39) |
S149P |
probably damaging |
Het |
| CN725425 |
T |
C |
15: 91,120,005 (GRCm39) |
V42A |
probably benign |
Het |
| Cpb1 |
T |
C |
3: 20,303,978 (GRCm39) |
D362G |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,288,757 (GRCm39) |
Q1099K |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Galnt4 |
A |
G |
10: 98,945,960 (GRCm39) |
M562V |
possibly damaging |
Het |
| Gtf3c3 |
T |
A |
1: 54,445,197 (GRCm39) |
E619V |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,700,759 (GRCm39) |
M585K |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,857,204 (GRCm39) |
E44G |
possibly damaging |
Het |
| Lrit3 |
A |
T |
3: 129,594,009 (GRCm39) |
F189L |
probably benign |
Het |
| Mag |
T |
C |
7: 30,606,508 (GRCm39) |
N310D |
possibly damaging |
Het |
| Mccc2 |
T |
C |
13: 100,091,184 (GRCm39) |
T151A |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,389,139 (GRCm39) |
S49T |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,085,437 (GRCm39) |
E1787G |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,974,712 (GRCm39) |
D728G |
probably benign |
Het |
| Nup37 |
A |
G |
10: 87,996,799 (GRCm39) |
E139G |
probably benign |
Het |
| Or52h9 |
C |
T |
7: 104,202,542 (GRCm39) |
Q139* |
probably null |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,138 (GRCm39) |
Y311C |
probably damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rbm44 |
A |
T |
1: 91,084,799 (GRCm39) |
N674Y |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,759,120 (GRCm39) |
I3353V |
possibly damaging |
Het |
| Sema3c |
C |
T |
5: 17,929,130 (GRCm39) |
T588I |
possibly damaging |
Het |
| Sh2d5 |
A |
T |
4: 137,986,393 (GRCm39) |
E372V |
possibly damaging |
Het |
| Slc27a6 |
C |
T |
18: 58,705,130 (GRCm39) |
P171S |
probably benign |
Het |
| Svil |
T |
G |
18: 5,049,323 (GRCm39) |
V287G |
probably benign |
Het |
| Tas1r2 |
T |
A |
4: 139,396,467 (GRCm39) |
V602D |
probably damaging |
Het |
| Tln2 |
A |
G |
9: 67,179,971 (GRCm39) |
L800P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,218,683 (GRCm39) |
Q323K |
possibly damaging |
Het |
| Txndc9 |
T |
A |
1: 38,029,299 (GRCm39) |
D183V |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,474 (GRCm39) |
M258L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,820,784 (GRCm39) |
I50N |
probably damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,381,683 (GRCm39) |
N1161Y |
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 |
|
R5448:Slfn3
|
UTSW |
11 |
83,105,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GCAGTCTTCTTGGGGAACTAG -3'
(R):5'- AAACATCATTGTGCCATACTCC -3'
Sequencing Primer
(F):5'- TTCTTGGGGAACTAGGCGCC -3'
(R):5'- AACATCATTGTGCCATACTCCATTTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation