Incidental Mutation 'R5777:Slfn5'
| ID |
446780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn5
|
| Ensembl Gene |
ENSMUSG00000054404 |
| Gene Name |
schlafen 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R5777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82842175-82855666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82851830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 652
(D652V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067443]
[ENSMUST00000108157]
[ENSMUST00000108158]
|
| AlphaFold |
Q8CBA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067443
AA Change: D652V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: D652V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
187 |
319 |
4.7e-13 |
PFAM |
|
low complexity region
|
537 |
547 |
N/A |
INTRINSIC |
|
Pfam:DUF2075
|
567 |
743 |
4.7e-8 |
PFAM |
|
transmembrane domain
|
848 |
870 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108157
AA Change: D652V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: D652V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
187 |
320 |
1.9e-15 |
PFAM |
|
low complexity region
|
537 |
547 |
N/A |
INTRINSIC |
|
Pfam:DUF2075
|
567 |
739 |
9.4e-9 |
PFAM |
|
transmembrane domain
|
848 |
870 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108158
|
| SMART Domains |
Protein: ENSMUSP00000103793
Gene: ENSMUSG00000054404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
187 |
320 |
3.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216469
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,294,000 (GRCm39) |
E41G |
probably benign |
Het |
| Amph |
A |
T |
13: 19,230,186 (GRCm39) |
N45Y |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,522 (GRCm39) |
L470Q |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,548 (GRCm39) |
I306F |
probably benign |
Het |
| Cobll1 |
A |
T |
2: 64,933,612 (GRCm39) |
M460K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,227 (GRCm39) |
V131A |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,511,664 (GRCm39) |
H618R |
probably benign |
Het |
| Dhx38 |
C |
A |
8: 110,283,534 (GRCm39) |
V538L |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,001,733 (GRCm39) |
D151G |
probably damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,167,604 (GRCm39) |
L51P |
probably damaging |
Het |
| Gm4781 |
C |
T |
10: 100,232,831 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5134 |
C |
A |
10: 75,840,594 (GRCm39) |
F479L |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,839,835 (GRCm39) |
K24E |
probably benign |
Het |
| Hexa |
T |
G |
9: 59,468,243 (GRCm39) |
V290G |
probably damaging |
Het |
| Ifi206 |
C |
T |
1: 173,308,928 (GRCm39) |
R356K |
possibly damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,961,277 (GRCm39) |
R525Q |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,869 (GRCm39) |
I3774N |
probably damaging |
Het |
| Msh4 |
C |
A |
3: 153,569,076 (GRCm39) |
M832I |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,676,685 (GRCm39) |
E852G |
probably damaging |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,963 (GRCm39) |
C32* |
probably null |
Het |
| Nos2 |
A |
G |
11: 78,830,978 (GRCm39) |
E387G |
probably null |
Het |
| Or4f58 |
C |
T |
2: 111,851,876 (GRCm39) |
G108R |
probably damaging |
Het |
| Or55b10 |
A |
G |
7: 102,143,178 (GRCm39) |
V268A |
probably benign |
Het |
| Or5h27 |
T |
A |
16: 59,006,266 (GRCm39) |
L193F |
unknown |
Het |
| Or7a36 |
A |
C |
10: 78,820,512 (GRCm39) |
D296A |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,287,014 (GRCm39) |
H54Q |
probably benign |
Het |
| Or8j3c |
A |
G |
2: 86,253,669 (GRCm39) |
V117A |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,832,921 (GRCm39) |
T211A |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,876,856 (GRCm39) |
N137S |
probably damaging |
Het |
| Pgf |
T |
C |
12: 85,216,148 (GRCm39) |
T157A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,428,579 (GRCm39) |
D714G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,522,913 (GRCm39) |
I930M |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,837 (GRCm39) |
S197P |
possibly damaging |
Het |
| Skint7 |
T |
A |
4: 111,845,289 (GRCm39) |
I367N |
probably benign |
Het |
| Stx1b |
G |
A |
7: 127,410,090 (GRCm39) |
Q3* |
probably null |
Het |
| Tex35 |
T |
C |
1: 156,934,777 (GRCm39) |
M46V |
probably benign |
Het |
| Tkt |
A |
C |
14: 30,280,733 (GRCm39) |
T55P |
possibly damaging |
Het |
| Trim30c |
T |
C |
7: 104,032,538 (GRCm39) |
R263G |
probably benign |
Het |
| U2af2 |
G |
A |
7: 5,069,450 (GRCm39) |
R33Q |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,391,469 (GRCm39) |
V182D |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,348 (GRCm39) |
V863A |
possibly damaging |
Het |
| Zfp976 |
T |
G |
7: 42,263,504 (GRCm39) |
H111P |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,595,321 (GRCm39) |
N48Y |
probably damaging |
Het |
|
| Other mutations in Slfn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Slfn5
|
APN |
11 |
82,847,807 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01773:Slfn5
|
APN |
11 |
82,852,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03026:Slfn5
|
APN |
11 |
82,847,387 (GRCm39) |
missense |
probably benign |
|
|
IGL03368:Slfn5
|
APN |
11 |
82,847,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0531:Slfn5
|
UTSW |
11 |
82,851,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0690:Slfn5
|
UTSW |
11 |
82,852,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Slfn5
|
UTSW |
11 |
82,852,164 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1005:Slfn5
|
UTSW |
11 |
82,850,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1214:Slfn5
|
UTSW |
11 |
82,850,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1978:Slfn5
|
UTSW |
11 |
82,847,442 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4092:Slfn5
|
UTSW |
11 |
82,851,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Slfn5
|
UTSW |
11 |
82,852,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Slfn5
|
UTSW |
11 |
82,847,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5113:Slfn5
|
UTSW |
11 |
82,852,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5120:Slfn5
|
UTSW |
11 |
82,851,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Slfn5
|
UTSW |
11 |
82,847,496 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5307:Slfn5
|
UTSW |
11 |
82,847,211 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5451:Slfn5
|
UTSW |
11 |
82,850,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Slfn5
|
UTSW |
11 |
82,847,973 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5651:Slfn5
|
UTSW |
11 |
82,851,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5906:Slfn5
|
UTSW |
11 |
82,848,102 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5934:Slfn5
|
UTSW |
11 |
82,847,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6521:Slfn5
|
UTSW |
11 |
82,851,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6543:Slfn5
|
UTSW |
11 |
82,849,492 (GRCm39) |
splice site |
probably null |
|
|
R6681:Slfn5
|
UTSW |
11 |
82,847,204 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7129:Slfn5
|
UTSW |
11 |
82,851,976 (GRCm39) |
nonsense |
probably null |
|
|
R7309:Slfn5
|
UTSW |
11 |
82,847,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Slfn5
|
UTSW |
11 |
82,851,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Slfn5
|
UTSW |
11 |
82,849,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7610:Slfn5
|
UTSW |
11 |
82,852,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Slfn5
|
UTSW |
11 |
82,851,278 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7957:Slfn5
|
UTSW |
11 |
82,847,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8205:Slfn5
|
UTSW |
11 |
82,851,544 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8264:Slfn5
|
UTSW |
11 |
82,847,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Slfn5
|
UTSW |
11 |
82,850,966 (GRCm39) |
nonsense |
probably null |
|
|
R9130:Slfn5
|
UTSW |
11 |
82,851,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Slfn5
|
UTSW |
11 |
82,851,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9209:Slfn5
|
UTSW |
11 |
82,850,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9454:Slfn5
|
UTSW |
11 |
82,850,885 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9534:Slfn5
|
UTSW |
11 |
82,849,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9565:Slfn5
|
UTSW |
11 |
82,847,699 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9608:Slfn5
|
UTSW |
11 |
82,852,321 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9608:Slfn5
|
UTSW |
11 |
82,851,830 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9686:Slfn5
|
UTSW |
11 |
82,848,001 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTTCCATGCTCAGGAAC -3'
(R):5'- ACCATCAAGGCTTCTTGGGG -3'
Sequencing Primer
(F):5'- GAACTATTCCTATCTATTGGGCTGC -3'
(R):5'- GATGCATTATATCCTGAAGGTAGCTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation