Incidental Mutation 'R0939:Slfn5'
ID |
81317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn5
|
Ensembl Gene |
ENSMUSG00000054404 |
Gene Name |
schlafen 5 |
Synonyms |
|
MMRRC Submission |
039078-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R0939 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
82842175-82855666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 82852164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 763
(M763I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067443]
[ENSMUST00000108157]
[ENSMUST00000108158]
|
AlphaFold |
Q8CBA2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067443
AA Change: M763I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000064819 Gene: ENSMUSG00000054404 AA Change: M763I
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 benign
Transcript: ENSMUST00000108157
AA Change: M763I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103792 Gene: ENSMUSG00000054404 AA Change: M763I
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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,902,969 (GRCm39) |
V419M |
probably damaging |
Het |
Cdcp1 |
A |
G |
9: 123,012,755 (GRCm39) |
V264A |
probably damaging |
Het |
Cfap53 |
A |
G |
18: 74,438,801 (GRCm39) |
D326G |
probably null |
Het |
Dach1 |
A |
G |
14: 98,153,360 (GRCm39) |
V436A |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,024,142 (GRCm39) |
G1870S |
probably damaging |
Het |
Dst |
C |
A |
1: 34,283,464 (GRCm39) |
H5324N |
probably damaging |
Het |
Eapp |
TTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTT |
12: 54,732,734 (GRCm39) |
|
probably benign |
Het |
Esd |
C |
A |
14: 74,973,467 (GRCm39) |
H21N |
probably damaging |
Het |
Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
Igdcc4 |
T |
A |
9: 65,038,755 (GRCm39) |
|
probably null |
Het |
Mug1 |
A |
T |
6: 121,861,308 (GRCm39) |
I1310F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
Or10a3b |
T |
A |
7: 108,444,440 (GRCm39) |
Y259F |
probably damaging |
Het |
Or10h5 |
T |
C |
17: 33,434,635 (GRCm39) |
K231E |
possibly damaging |
Het |
Or9g19 |
T |
A |
2: 85,600,997 (GRCm39) |
L284* |
probably null |
Het |
Pcdh17 |
A |
G |
14: 84,685,195 (GRCm39) |
D554G |
probably damaging |
Het |
Plcxd3 |
T |
A |
15: 4,546,344 (GRCm39) |
L116* |
probably null |
Het |
Prss1 |
A |
C |
6: 41,440,522 (GRCm39) |
D199A |
probably damaging |
Het |
Rbms3 |
C |
T |
9: 116,939,028 (GRCm39) |
|
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,116,207 (GRCm39) |
M1189V |
probably benign |
Het |
Slc25a39 |
T |
C |
11: 102,295,877 (GRCm39) |
E118G |
probably damaging |
Het |
Speer4f2 |
A |
G |
5: 17,579,402 (GRCm39) |
E67G |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,704,636 (GRCm39) |
|
probably null |
Het |
Spocd1 |
A |
T |
4: 129,842,663 (GRCm39) |
D26V |
possibly damaging |
Het |
Ssh1 |
A |
G |
5: 114,108,497 (GRCm39) |
L50P |
probably damaging |
Het |
Tle1 |
A |
G |
4: 72,036,771 (GRCm39) |
L728P |
probably damaging |
Het |
Trio |
A |
G |
15: 27,741,336 (GRCm39) |
|
probably null |
Het |
Tubb1 |
G |
A |
2: 174,297,549 (GRCm39) |
E53K |
probably damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,272,889 (GRCm39) |
T568S |
possibly 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 |
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 |
R5777:Slfn5
|
UTSW |
11 |
82,851,830 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- ACACCAGAAGCCGTTATTGAAGCTC -3'
(R):5'- TGCCTGAAAATCGGTGAACACTCTC -3'
Sequencing Primer
(F):5'- GCCGTTATTGAAGCTCACCAG -3'
(R):5'- CCCTGACCTGCACTAGTAAACTG -3'
|
Posted On |
2013-11-07 |