Incidental Mutation 'R4163:Slfn3'
| ID |
321623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn3
|
| Ensembl Gene |
ENSMUSG00000018986 |
| Gene Name |
schlafen 3 |
| Synonyms |
|
| MMRRC Submission |
041006-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4163 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83082156-83105980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83103596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 156
(I156F)
|
| 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: I33F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: I33F
| 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: I156F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216599
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
G |
A |
8: 49,948,531 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
C |
T |
11: 109,941,808 (GRCm39) |
D1154N |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,978,477 (GRCm39) |
F289L |
probably benign |
Het |
| Alkbh2 |
A |
G |
5: 114,265,613 (GRCm39) |
L63S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,360,068 (GRCm39) |
N19K |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,933,975 (GRCm39) |
Y2544N |
probably damaging |
Het |
| Bnip5 |
T |
C |
17: 29,118,503 (GRCm39) |
Y643C |
probably benign |
Het |
| Bpifa3 |
A |
G |
2: 153,977,516 (GRCm39) |
N118S |
probably damaging |
Het |
| Chst10 |
T |
A |
1: 38,910,904 (GRCm39) |
M87L |
probably benign |
Het |
| Cnot9 |
C |
T |
1: 74,568,006 (GRCm39) |
P298L |
probably damaging |
Het |
| Cops5 |
T |
C |
1: 10,100,912 (GRCm39) |
Y228C |
probably damaging |
Het |
| Dcaf8 |
T |
G |
1: 172,020,137 (GRCm39) |
L492R |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,748,959 (GRCm39) |
S128G |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,346,051 (GRCm39) |
R198G |
possibly damaging |
Het |
| Elovl7 |
T |
A |
13: 108,403,904 (GRCm39) |
M82K |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Fcgr2b |
T |
C |
1: 170,791,016 (GRCm39) |
D259G |
possibly damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Frk |
C |
T |
10: 34,467,868 (GRCm39) |
P294L |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm128 |
C |
A |
3: 95,147,802 (GRCm39) |
R164L |
probably benign |
Het |
| Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
| Hexd |
C |
A |
11: 121,111,975 (GRCm39) |
A423E |
probably benign |
Het |
| Itgax |
G |
T |
7: 127,743,872 (GRCm39) |
V878F |
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,706,864 (GRCm39) |
D51E |
probably damaging |
Het |
| Kcna4 |
G |
C |
2: 107,126,151 (GRCm39) |
W295S |
probably damaging |
Het |
| Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
| Mis12 |
A |
G |
11: 70,916,482 (GRCm39) |
T172A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Myo18a |
G |
T |
11: 77,720,534 (GRCm39) |
R1103L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Ntrk2 |
T |
C |
13: 59,008,054 (GRCm39) |
V272A |
probably damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,389,486 (GRCm39) |
C241S |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,855,039 (GRCm39) |
I102N |
probably benign |
Het |
| Or7e165 |
A |
T |
9: 19,695,086 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Pcdh20 |
C |
T |
14: 88,705,615 (GRCm39) |
D562N |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,943,436 (GRCm39) |
F4L |
probably benign |
Het |
| Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,141,346 (GRCm39) |
R598C |
possibly damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,113,135 (GRCm39) |
D759G |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,096,545 (GRCm39) |
S584P |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,433,797 (GRCm39) |
D1514G |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
| Slc44a5 |
A |
T |
3: 153,967,010 (GRCm39) |
R565S |
possibly damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,615,139 (GRCm39) |
L236S |
probably benign |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
T |
C |
7: 127,607,080 (GRCm39) |
V203A |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,497,915 (GRCm39) |
I90L |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,026,999 (GRCm39) |
Y788N |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,485,822 (GRCm39) |
T166A |
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 |
|
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'- TCCAGGAAAGGACTTCATCTGG -3'
(R):5'- TTTCAAGGTGGTGATCCCCG -3'
Sequencing Primer
(F):5'- CATCATTGTTGATCAGGACACAGAC -3'
(R):5'- GGCCCTTTCTGATTCGGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation