Incidental Mutation 'R5451:Slfn5'
ID |
434595 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn5
|
Ensembl Gene |
ENSMUSG00000054404 |
Gene Name |
schlafen 5 |
Synonyms |
|
MMRRC Submission |
043016-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R5451 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
82842175-82855666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 82850912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 403
(I403R)
|
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: I403R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000064819 Gene: ENSMUSG00000054404 AA Change: I403R
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: I403R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103792 Gene: ENSMUSG00000054404 AA Change: I403R
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
|
Meta Mutation Damage Score |
0.2923 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,334,076 (GRCm39) |
F1142S |
possibly damaging |
Het |
Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
Calhm2 |
T |
A |
19: 47,121,314 (GRCm39) |
Y285F |
possibly damaging |
Het |
Casr |
T |
C |
16: 36,330,270 (GRCm39) |
T355A |
probably damaging |
Het |
Ccnq |
T |
A |
11: 78,642,115 (GRCm39) |
Q125L |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,733,747 (GRCm39) |
Y63C |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 115,612,873 (GRCm39) |
S3P |
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,143,476 (GRCm39) |
G388D |
probably damaging |
Het |
Cwh43 |
T |
C |
5: 73,589,256 (GRCm39) |
M447T |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,281,179 (GRCm39) |
G2747S |
possibly damaging |
Het |
Fbxo7 |
A |
G |
10: 85,864,901 (GRCm39) |
S51G |
probably benign |
Het |
Gabbr2 |
T |
A |
4: 46,684,294 (GRCm39) |
Y660F |
probably benign |
Het |
Galnt15 |
A |
G |
14: 31,751,868 (GRCm39) |
E140G |
probably benign |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,422,445 (GRCm39) |
L138Q |
probably damaging |
Het |
Igflr1 |
A |
G |
7: 30,265,747 (GRCm39) |
N57S |
possibly damaging |
Het |
Ighv13-2 |
A |
G |
12: 114,321,473 (GRCm39) |
F89L |
probably damaging |
Het |
Irf2bpl |
A |
G |
12: 86,928,846 (GRCm39) |
V609A |
probably benign |
Het |
Jkampl |
A |
G |
6: 73,445,850 (GRCm39) |
V233A |
probably benign |
Het |
Lingo1 |
T |
G |
9: 56,527,711 (GRCm39) |
I293L |
probably damaging |
Het |
Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
Lsm2 |
T |
C |
17: 35,201,185 (GRCm39) |
|
probably benign |
Het |
Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
Micall1 |
T |
A |
15: 79,011,104 (GRCm39) |
|
probably null |
Het |
Mpp7 |
T |
C |
18: 7,442,855 (GRCm39) |
D156G |
probably null |
Het |
Mybbp1a |
A |
G |
11: 72,338,939 (GRCm39) |
D822G |
probably damaging |
Het |
Naip2 |
A |
G |
13: 100,325,368 (GRCm39) |
V180A |
probably benign |
Het |
Nol10 |
T |
A |
12: 17,409,103 (GRCm39) |
Y159* |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,919,221 (GRCm39) |
T1290A |
probably benign |
Het |
Or12e1 |
T |
A |
2: 87,022,796 (GRCm39) |
V255E |
probably damaging |
Het |
Or5aq1b |
T |
C |
2: 86,902,341 (GRCm39) |
I46V |
probably damaging |
Het |
Or7g20 |
T |
C |
9: 18,946,787 (GRCm39) |
Y123H |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,440,720 (GRCm39) |
Y1290F |
possibly damaging |
Het |
Rab42 |
T |
C |
4: 132,029,827 (GRCm39) |
N132D |
probably benign |
Het |
Rfx3 |
T |
G |
19: 27,827,359 (GRCm39) |
T76P |
probably damaging |
Het |
Rps13-ps2 |
G |
T |
7: 88,180,036 (GRCm39) |
|
noncoding transcript |
Het |
Slc12a3 |
A |
G |
8: 95,083,655 (GRCm39) |
D894G |
possibly damaging |
Het |
Slc25a15 |
G |
A |
8: 22,879,983 (GRCm39) |
T54I |
probably benign |
Het |
Slco1c1 |
A |
T |
6: 141,505,604 (GRCm39) |
Q461L |
probably benign |
Het |
Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
Tbc1d32 |
T |
A |
10: 56,071,571 (GRCm39) |
T318S |
possibly damaging |
Het |
Tiam2 |
G |
T |
17: 3,479,271 (GRCm39) |
R668M |
probably damaging |
Het |
Tle7 |
A |
T |
8: 110,836,503 (GRCm39) |
I160F |
probably damaging |
Het |
Trgj4 |
G |
T |
13: 19,526,335 (GRCm39) |
|
probably benign |
Het |
Trim9 |
A |
G |
12: 70,393,603 (GRCm39) |
S114P |
probably benign |
Het |
Trp53i11 |
T |
C |
2: 93,030,200 (GRCm39) |
L169P |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r190-ps |
A |
G |
13: 22,328,901 (GRCm39) |
|
noncoding transcript |
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 |
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'- AGAGCTCAAAGATCGAGATCTACATC -3'
(R):5'- TAGTGCCTGTTCCCCAGATC -3'
Sequencing Primer
(F):5'- TACATCTGTTGGCCAAGCAG -3'
(R):5'- CCCACTTGTTGCAAATGGTGTACAG -3'
|
Posted On |
2016-10-06 |