Incidental Mutation 'IGL03026:Slfn5'
ID |
408170 |
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: 0.096)
|
Stock # |
IGL03026
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
82842175-82855666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82847387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 91
(Y91H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067443]
[ENSMUST00000108157]
[ENSMUST00000108158]
|
AlphaFold |
Q8CBA2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067443
AA Change: Y91H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000064819 Gene: ENSMUSG00000054404 AA Change: Y91H
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: Y91H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103792 Gene: ENSMUSG00000054404 AA Change: Y91H
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
AA Change: Y91H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103793 Gene: ENSMUSG00000054404 AA Change: Y91H
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: ENSMUST00000150687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216469
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
G |
11: 100,410,516 (GRCm39) |
V154A |
possibly damaging |
Het |
Adcy4 |
T |
C |
14: 56,015,467 (GRCm39) |
Y481C |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 34,977,412 (GRCm39) |
V315A |
probably benign |
Het |
Atf7ip |
G |
A |
6: 136,582,380 (GRCm39) |
S1130N |
possibly damaging |
Het |
Ctss |
A |
G |
3: 95,446,141 (GRCm39) |
D87G |
probably benign |
Het |
Cwf19l2 |
A |
T |
9: 3,428,777 (GRCm39) |
K254N |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,179,647 (GRCm39) |
D727G |
probably damaging |
Het |
Dsg3 |
G |
A |
18: 20,670,029 (GRCm39) |
|
probably null |
Het |
Ehmt1 |
T |
C |
2: 24,742,746 (GRCm39) |
M478V |
probably benign |
Het |
Enam |
A |
T |
5: 88,651,158 (GRCm39) |
N889I |
probably benign |
Het |
Exo1 |
G |
T |
1: 175,736,003 (GRCm39) |
*148L |
probably null |
Het |
Fam133b |
G |
T |
5: 3,609,646 (GRCm39) |
|
probably benign |
Het |
Foxj2 |
G |
A |
6: 122,815,139 (GRCm39) |
A392T |
probably benign |
Het |
Gbp4 |
G |
T |
5: 105,267,866 (GRCm39) |
A460E |
possibly damaging |
Het |
H1f5 |
G |
A |
13: 21,964,117 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
T |
8: 107,605,242 (GRCm39) |
I483F |
probably benign |
Het |
Irak2 |
T |
A |
6: 113,653,612 (GRCm39) |
V260E |
probably damaging |
Het |
Kcnj8 |
T |
C |
6: 142,512,199 (GRCm39) |
|
probably null |
Het |
Lama5 |
A |
G |
2: 179,837,760 (GRCm39) |
V936A |
probably benign |
Het |
Lmo7 |
C |
T |
14: 102,166,769 (GRCm39) |
|
probably benign |
Het |
Morc3 |
T |
A |
16: 93,659,612 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
C |
7: 141,226,414 (GRCm39) |
|
probably benign |
Het |
Nkx2-2 |
T |
C |
2: 147,027,742 (GRCm39) |
Y66C |
probably damaging |
Het |
Oaz1 |
G |
A |
10: 80,664,634 (GRCm39) |
|
probably benign |
Het |
Or2y1f |
A |
T |
11: 49,184,285 (GRCm39) |
I46F |
probably damaging |
Het |
Or6c38 |
G |
A |
10: 128,929,057 (GRCm39) |
A262V |
possibly damaging |
Het |
Or6c65 |
A |
T |
10: 129,603,910 (GRCm39) |
M182L |
probably benign |
Het |
Pkd2 |
A |
T |
5: 104,642,753 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,792,349 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
C |
A |
2: 146,302,695 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
T |
C |
9: 72,526,967 (GRCm39) |
S1386P |
probably damaging |
Het |
Ric1 |
T |
G |
19: 29,577,233 (GRCm39) |
W1046G |
probably benign |
Het |
Rrp12 |
C |
A |
19: 41,861,436 (GRCm39) |
R957L |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,506,442 (GRCm39) |
I1482M |
probably damaging |
Het |
Sema3b |
T |
C |
9: 107,479,262 (GRCm39) |
N236S |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,848,441 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
T |
A |
19: 4,774,261 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
G |
4: 118,249,046 (GRCm39) |
L546P |
probably benign |
Het |
Tas1r3 |
A |
G |
4: 155,946,300 (GRCm39) |
|
probably benign |
Het |
Trim75 |
A |
G |
8: 65,436,438 (GRCm39) |
V4A |
probably benign |
Het |
Usp19 |
T |
C |
9: 108,370,344 (GRCm39) |
L56P |
probably damaging |
Het |
Vmn1r181 |
T |
G |
7: 23,684,000 (GRCm39) |
I155S |
possibly damaging |
Het |
Vmn2r43 |
G |
T |
7: 8,258,096 (GRCm39) |
D372E |
probably benign |
Het |
Vstm2b |
C |
A |
7: 40,551,945 (GRCm39) |
S99* |
probably null |
Het |
Wdr11 |
A |
G |
7: 129,226,060 (GRCm39) |
D735G |
probably damaging |
Het |
Wee2 |
T |
A |
6: 40,438,915 (GRCm39) |
M346K |
probably benign |
Het |
Zap70 |
A |
G |
1: 36,818,798 (GRCm39) |
K371R |
possibly damaging |
Het |
Zfp990 |
A |
T |
4: 145,263,680 (GRCm39) |
H226L |
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 |
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 |
2016-08-02 |