Incidental Mutation 'IGL01773:Slfn5'
ID |
153727 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slfn5
|
Ensembl Gene |
ENSMUSG00000054404 |
Gene Name |
schlafen 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
IGL01773
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
82842175-82855666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82852157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 761
(E761V)
|
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: E761V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064819 Gene: ENSMUSG00000054404 AA Change: E761V
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: E761V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103792 Gene: ENSMUSG00000054404 AA Change: E761V
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1s |
C |
A |
1: 136,046,491 (GRCm39) |
H1775Q |
probably benign |
Het |
Calcrl |
A |
G |
2: 84,200,787 (GRCm39) |
Y86H |
probably benign |
Het |
Ccdc63 |
T |
C |
5: 122,251,208 (GRCm39) |
K401E |
possibly damaging |
Het |
Col9a1 |
A |
G |
1: 24,244,147 (GRCm39) |
T127A |
probably benign |
Het |
Cpq |
T |
A |
15: 33,212,996 (GRCm39) |
F5Y |
probably benign |
Het |
Cuzd1 |
T |
A |
7: 130,916,614 (GRCm39) |
M282L |
probably damaging |
Het |
Ddx10 |
C |
A |
9: 53,115,430 (GRCm39) |
D635Y |
possibly damaging |
Het |
Ect2l |
T |
C |
10: 18,037,252 (GRCm39) |
D382G |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,290,365 (GRCm39) |
S901P |
possibly damaging |
Het |
Gpr179 |
G |
A |
11: 97,232,192 (GRCm39) |
R671C |
probably benign |
Het |
Isl2 |
T |
C |
9: 55,451,504 (GRCm39) |
L219P |
probably damaging |
Het |
Mfsd13a |
T |
C |
19: 46,357,733 (GRCm39) |
S296P |
possibly damaging |
Het |
Mtmr7 |
A |
T |
8: 41,034,461 (GRCm39) |
L287Q |
probably damaging |
Het |
Or11g25 |
T |
C |
14: 50,723,230 (GRCm39) |
F105S |
probably damaging |
Het |
Or52d13 |
T |
G |
7: 103,110,221 (GRCm39) |
M60L |
possibly damaging |
Het |
Or7a39 |
A |
G |
10: 78,715,770 (GRCm39) |
T255A |
possibly damaging |
Het |
Or8g28 |
A |
G |
9: 39,169,830 (GRCm39) |
I46T |
probably damaging |
Het |
Pik3c3 |
T |
A |
18: 30,410,155 (GRCm39) |
F130I |
probably damaging |
Het |
Rab3gap1 |
T |
A |
1: 127,845,958 (GRCm39) |
S277R |
possibly damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,494 (GRCm39) |
K290R |
probably benign |
Het |
Rnaseh2a |
A |
T |
8: 85,691,767 (GRCm39) |
V136D |
probably damaging |
Het |
Rnf39 |
C |
T |
17: 37,256,328 (GRCm39) |
S140L |
possibly damaging |
Het |
Sbno2 |
A |
G |
10: 79,893,665 (GRCm39) |
V1212A |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,021,101 (GRCm39) |
I50F |
probably damaging |
Het |
Sptlc1 |
A |
G |
13: 53,531,334 (GRCm39) |
Y18H |
probably damaging |
Het |
Tfam |
A |
G |
10: 71,072,805 (GRCm39) |
M9T |
possibly damaging |
Het |
Tmem186 |
A |
G |
16: 8,453,841 (GRCm39) |
L140P |
probably damaging |
Het |
Try4 |
A |
T |
6: 41,281,960 (GRCm39) |
N182I |
probably damaging |
Het |
Vmn1r209 |
C |
T |
13: 22,990,450 (GRCm39) |
C80Y |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,260,930 (GRCm39) |
S498T |
probably benign |
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 |
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 |
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 |
|
Posted On |
2014-02-04 |