Incidental Mutation 'R5617:Slfn8'
| ID |
439593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
043276-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 82895547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 420
(H420N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038141
AA Change: H420N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: H420N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
1.6e-18 |
PFAM |
|
Pfam:DUF2075
|
592 |
766 |
5.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092838
AA Change: H420N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: H420N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
205 |
341 |
1.4e-17 |
PFAM |
|
Pfam:DUF2075
|
592 |
767 |
2.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108152
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130822
AA Change: H420N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: H420N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
3.7e-19 |
PFAM |
|
SCOP:d1ly1a_
|
593 |
625 |
4e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131883
AA Change: H196N
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: H196N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
27 |
163 |
1.8e-15 |
PFAM |
|
SCOP:d1ly1a_
|
370 |
402 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215239
|
| Meta Mutation Damage Score |
0.4972 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,227,891 (GRCm39) |
L645F |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,787,851 (GRCm39) |
Y522C |
probably damaging |
Het |
| Asb18 |
A |
G |
1: 89,882,184 (GRCm39) |
V118A |
possibly damaging |
Het |
| Aste1 |
T |
A |
9: 105,275,034 (GRCm39) |
C8S |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,453,423 (GRCm39) |
S834G |
probably benign |
Het |
| Cdh18 |
A |
G |
15: 23,226,854 (GRCm39) |
D105G |
probably damaging |
Het |
| Cenpb |
T |
C |
2: 131,020,934 (GRCm39) |
E288G |
probably damaging |
Het |
| Clcnka |
C |
T |
4: 141,116,628 (GRCm39) |
G541D |
probably null |
Het |
| Dctn3 |
T |
C |
4: 41,716,407 (GRCm39) |
I134V |
possibly damaging |
Het |
| Dennd4b |
T |
C |
3: 90,182,933 (GRCm39) |
S917P |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,493,865 (GRCm39) |
D21E |
probably damaging |
Het |
| Fam174a |
T |
C |
1: 95,241,972 (GRCm39) |
V144A |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,639,042 (GRCm39) |
Y1087H |
probably damaging |
Het |
| Gm7275 |
A |
T |
16: 47,894,527 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9271 |
G |
T |
7: 39,013,076 (GRCm39) |
|
noncoding transcript |
Het |
| Grm2 |
T |
C |
9: 106,528,275 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 35,028,150 (GRCm39) |
V1802D |
possibly damaging |
Het |
| Ighv1-75 |
C |
A |
12: 115,797,874 (GRCm39) |
G16V |
probably benign |
Het |
| Krt78 |
G |
A |
15: 101,856,044 (GRCm39) |
T589I |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,631,993 (GRCm39) |
|
probably benign |
Het |
| Lbr |
A |
T |
1: 181,656,467 (GRCm39) |
V227D |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,954,786 (GRCm39) |
V211A |
probably damaging |
Het |
| Map3k19 |
G |
A |
1: 127,750,703 (GRCm39) |
R883C |
probably damaging |
Het |
| Marchf8 |
A |
C |
6: 116,380,481 (GRCm39) |
I111L |
possibly damaging |
Het |
| Mrps10 |
T |
A |
17: 47,689,167 (GRCm39) |
M187K |
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,638,840 (GRCm39) |
R660C |
probably damaging |
Het |
| Notum |
A |
T |
11: 120,547,171 (GRCm39) |
Y332* |
probably null |
Het |
| Nr1h5 |
A |
T |
3: 102,855,145 (GRCm39) |
L319I |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,921 (GRCm39) |
H180L |
possibly damaging |
Het |
| Or8k35 |
T |
A |
2: 86,424,345 (GRCm39) |
I276L |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,246,684 (GRCm39) |
D765G |
possibly damaging |
Het |
| Parp3 |
C |
T |
9: 106,351,704 (GRCm39) |
V170M |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,471,504 (GRCm39) |
|
probably benign |
Het |
| Pcdha9 |
T |
G |
18: 37,131,869 (GRCm39) |
S313A |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,020,107 (GRCm39) |
R201G |
possibly damaging |
Het |
| Pgm5 |
G |
A |
19: 24,727,765 (GRCm39) |
R375* |
probably null |
Het |
| Phactr2 |
A |
G |
10: 13,349,809 (GRCm39) |
S72P |
possibly damaging |
Het |
| Plaat1 |
A |
T |
16: 29,039,162 (GRCm39) |
R81* |
probably null |
Het |
| Plec |
A |
G |
15: 76,058,732 (GRCm39) |
L3600P |
probably damaging |
Het |
| Pou6f1 |
G |
A |
15: 100,483,874 (GRCm39) |
T208M |
possibly damaging |
Het |
| Rabep1 |
C |
T |
11: 70,808,355 (GRCm39) |
S394L |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,301,489 (GRCm39) |
F687C |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,863 (GRCm39) |
F163S |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,804,430 (GRCm39) |
N240D |
probably benign |
Het |
| Samd13 |
C |
A |
3: 146,352,065 (GRCm39) |
K95N |
probably benign |
Het |
| Slc25a17 |
G |
T |
15: 81,244,975 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Stim2 |
G |
A |
5: 54,267,075 (GRCm39) |
E21K |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,479,067 (GRCm39) |
Y151H |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,902,834 (GRCm39) |
I209T |
probably benign |
Het |
| Tubal3 |
T |
A |
13: 3,983,432 (GRCm39) |
L404H |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,640 (GRCm39) |
F150S |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,030,901 (GRCm39) |
S425G |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,861 (GRCm39) |
H326L |
probably damaging |
Het |
|
| Other mutations in Slfn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Slfn8
|
APN |
11 |
82,904,310 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01418:Slfn8
|
APN |
11 |
82,895,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Slfn8
|
APN |
11 |
82,895,059 (GRCm39) |
nonsense |
probably null |
|
|
IGL01875:Slfn8
|
APN |
11 |
82,894,905 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01896:Slfn8
|
APN |
11 |
82,894,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01929:Slfn8
|
APN |
11 |
82,894,231 (GRCm39) |
nonsense |
probably null |
|
|
IGL02111:Slfn8
|
APN |
11 |
82,895,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02136:Slfn8
|
APN |
11 |
82,894,291 (GRCm39) |
nonsense |
probably null |
|
|
IGL02165:Slfn8
|
APN |
11 |
82,908,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02645:Slfn8
|
APN |
11 |
82,894,380 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02682:Slfn8
|
APN |
11 |
82,894,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02689:Slfn8
|
APN |
11 |
82,907,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Slfn8
|
APN |
11 |
82,894,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03037:Slfn8
|
APN |
11 |
82,894,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03185:Slfn8
|
APN |
11 |
82,908,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03243:Slfn8
|
APN |
11 |
82,894,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Slfn8
|
APN |
11 |
82,904,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
seven_dwarfs
|
UTSW |
11 |
82,894,160 (GRCm39) |
missense |
probably benign |
0.09 |
|
vanwinkle
|
UTSW |
11 |
82,908,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Slfn8
|
UTSW |
11 |
82,894,169 (GRCm39) |
nonsense |
probably null |
|
|
R0368:Slfn8
|
UTSW |
11 |
82,907,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Slfn8
|
UTSW |
11 |
82,895,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Slfn8
|
UTSW |
11 |
82,894,647 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0894:Slfn8
|
UTSW |
11 |
82,894,407 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1006:Slfn8
|
UTSW |
11 |
82,894,337 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1181:Slfn8
|
UTSW |
11 |
82,907,571 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1187:Slfn8
|
UTSW |
11 |
82,894,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Slfn8
|
UTSW |
11 |
82,894,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1646:Slfn8
|
UTSW |
11 |
82,907,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Slfn8
|
UTSW |
11 |
82,894,447 (GRCm39) |
nonsense |
probably null |
|
|
R2005:Slfn8
|
UTSW |
11 |
82,894,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2363:Slfn8
|
UTSW |
11 |
82,894,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Slfn8
|
UTSW |
11 |
82,908,280 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3890:Slfn8
|
UTSW |
11 |
82,895,270 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3917:Slfn8
|
UTSW |
11 |
82,907,819 (GRCm39) |
nonsense |
probably null |
|
|
R4559:Slfn8
|
UTSW |
11 |
82,895,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Slfn8
|
UTSW |
11 |
82,908,332 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4767:Slfn8
|
UTSW |
11 |
82,894,023 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4773:Slfn8
|
UTSW |
11 |
82,908,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Slfn8
|
UTSW |
11 |
82,908,540 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4916:Slfn8
|
UTSW |
11 |
82,907,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Slfn8
|
UTSW |
11 |
82,894,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5107:Slfn8
|
UTSW |
11 |
82,907,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5130:Slfn8
|
UTSW |
11 |
82,894,647 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5165:Slfn8
|
UTSW |
11 |
82,907,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5238:Slfn8
|
UTSW |
11 |
82,904,214 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5282:Slfn8
|
UTSW |
11 |
82,908,550 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5311:Slfn8
|
UTSW |
11 |
82,894,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Slfn8
|
UTSW |
11 |
82,895,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5782:Slfn8
|
UTSW |
11 |
82,907,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5823:Slfn8
|
UTSW |
11 |
82,907,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5886:Slfn8
|
UTSW |
11 |
82,894,160 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5933:Slfn8
|
UTSW |
11 |
82,894,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6151:Slfn8
|
UTSW |
11 |
82,908,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Slfn8
|
UTSW |
11 |
82,894,690 (GRCm39) |
makesense |
probably null |
|
|
R6191:Slfn8
|
UTSW |
11 |
82,907,626 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6419:Slfn8
|
UTSW |
11 |
82,894,881 (GRCm39) |
splice site |
probably null |
|
|
R6925:Slfn8
|
UTSW |
11 |
82,904,243 (GRCm39) |
nonsense |
probably null |
|
|
R7065:Slfn8
|
UTSW |
11 |
82,907,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7380:Slfn8
|
UTSW |
11 |
82,894,566 (GRCm39) |
missense |
not run |
|
|
R7414:Slfn8
|
UTSW |
11 |
82,907,618 (GRCm39) |
nonsense |
probably null |
|
|
R7819:Slfn8
|
UTSW |
11 |
82,895,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Slfn8
|
UTSW |
11 |
82,895,441 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8517:Slfn8
|
UTSW |
11 |
82,894,968 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8804:Slfn8
|
UTSW |
11 |
82,907,639 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8814:Slfn8
|
UTSW |
11 |
82,907,505 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9069:Slfn8
|
UTSW |
11 |
82,907,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Slfn8
|
UTSW |
11 |
82,894,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Slfn8
|
UTSW |
11 |
82,908,532 (GRCm39) |
missense |
probably benign |
|
|
R9678:Slfn8
|
UTSW |
11 |
82,907,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Slfn8
|
UTSW |
11 |
82,894,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9764:Slfn8
|
UTSW |
11 |
82,907,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Slfn8
|
UTSW |
11 |
82,907,754 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Slfn8
|
UTSW |
11 |
82,894,359 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGCTTCAGAGTAAAGGCAG -3'
(R):5'- TGCAGAAGTATTGGTCACCTAC -3'
Sequencing Primer
(F):5'- GTTGCAGTAGTCCTGACCCTG -3'
(R):5'- AGTATTGGTCACCTACTTAATTCTCC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation