Incidental Mutation 'R7309:Slfn5'
| ID |
567454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn5
|
| Ensembl Gene |
ENSMUSG00000054404 |
| Gene Name |
schlafen 5 |
| Synonyms |
|
| MMRRC Submission |
045408-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7309 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82842175-82855666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82847529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 138
(L138P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067443]
[ENSMUST00000108157]
[ENSMUST00000108158]
|
| AlphaFold |
Q8CBA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067443
AA Change: L138P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: L138P
| 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: L138P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: L138P
| 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 damaging
Transcript: ENSMUST00000108158
AA Change: L138P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103793
Gene: ENSMUSG00000054404
AA Change: L138P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
187 |
320 |
3.4e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.6949 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
94% (47/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
C |
5: 109,884,819 (GRCm39) |
H346Q |
probably damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,546,530 (GRCm39) |
I71L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,516,604 (GRCm39) |
S377P |
probably damaging |
Het |
| Cldnd2 |
A |
G |
7: 43,091,133 (GRCm39) |
T22A |
possibly damaging |
Het |
| Comp |
A |
T |
8: 70,826,328 (GRCm39) |
|
probably null |
Het |
| Cop1 |
A |
G |
1: 159,134,195 (GRCm39) |
K446E |
probably damaging |
Het |
| Cox18 |
T |
C |
5: 90,362,917 (GRCm39) |
T314A |
possibly damaging |
Het |
| Csrp3 |
A |
G |
7: 48,485,317 (GRCm39) |
V60A |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,093,988 (GRCm39) |
Y4694F |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,139,510 (GRCm39) |
Y493H |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,967,011 (GRCm39) |
|
probably null |
Het |
| Fam187a |
T |
A |
11: 102,776,832 (GRCm39) |
V212E |
probably damaging |
Het |
| Fign |
A |
T |
2: 63,810,301 (GRCm39) |
M323K |
possibly damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,496 (GRCm39) |
K145R |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,829 (GRCm39) |
N133D |
probably benign |
Het |
| Hnrnpdl |
A |
T |
5: 100,185,482 (GRCm39) |
L240* |
probably null |
Het |
| Kcna7 |
T |
G |
7: 45,058,679 (GRCm39) |
F322C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,825 (GRCm39) |
C100R |
probably damaging |
Het |
| Lrrc14b |
C |
A |
13: 74,511,321 (GRCm39) |
C253F |
probably benign |
Het |
| Map3k11 |
T |
C |
19: 5,740,486 (GRCm39) |
V71A |
probably damaging |
Het |
| Med13 |
C |
A |
11: 86,181,888 (GRCm39) |
M1315I |
probably benign |
Het |
| Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
| Miox |
G |
T |
15: 89,220,252 (GRCm39) |
C148F |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,300,195 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
G |
A |
8: 121,835,070 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
A |
16: 48,916,828 (GRCm39) |
A383T |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,200,670 (GRCm39) |
H117R |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,702,384 (GRCm39) |
M23K |
probably benign |
Het |
| Or14c45 |
T |
A |
7: 86,176,349 (GRCm39) |
L128H |
probably damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,801 (GRCm39) |
N289I |
probably damaging |
Het |
| Or8g21 |
T |
A |
9: 38,906,576 (GRCm39) |
S52C |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,374,893 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
A |
T |
6: 139,968,882 (GRCm39) |
D185E |
probably damaging |
Het |
| Plekhg5 |
C |
A |
4: 152,196,985 (GRCm39) |
Q757K |
possibly damaging |
Het |
| Prr23a2 |
T |
A |
9: 98,739,027 (GRCm39) |
D128E |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,416,712 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
T |
14: 31,100,246 (GRCm39) |
V221M |
probably benign |
Het |
| Slc25a27 |
A |
T |
17: 43,975,083 (GRCm39) |
D59E |
probably benign |
Het |
| Slc35e1 |
G |
C |
8: 73,246,358 (GRCm39) |
R25G |
unknown |
Het |
| Slc4a4 |
T |
C |
5: 89,318,610 (GRCm39) |
V626A |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,165,780 (GRCm39) |
|
probably null |
Het |
| Tnks2 |
G |
T |
19: 36,829,936 (GRCm39) |
A206S |
probably damaging |
Het |
| Trav7-1 |
C |
A |
14: 52,892,521 (GRCm39) |
Q25K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,728,670 (GRCm39) |
M5470T |
unknown |
Het |
| Vps35 |
A |
T |
8: 86,001,596 (GRCm39) |
D407E |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,079,676 (GRCm39) |
D190G |
probably benign |
Het |
| Wdr93 |
T |
A |
7: 79,423,103 (GRCm39) |
F456I |
possibly damaging |
Het |
| Wdr95 |
A |
G |
5: 149,529,758 (GRCm39) |
E675G |
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 |
|
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 |
|
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 |
|
|
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'- AGTTGGCTTGAATCTGCCAC -3'
(R):5'- CTCTCTAATGCCCTGGGAAAG -3'
Sequencing Primer
(F):5'- GGCTTGAATCTGCCACCATTG -3'
(R):5'- CTCTAATGCCCTGGGAAAGGTCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation