Incidental Mutation 'R9457:Slfn8'
| ID |
714666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 82908532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 4
(H4N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038141
AA Change: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: H4N
| 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: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: H4N
| 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
AA Change: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: H4N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130822
AA Change: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: H4N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
3.7e-19 |
PFAM |
|
SCOP:d1ly1a_
|
593 |
625 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131883
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
| 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
AA Change: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
T |
C |
10: 115,414,236 (GRCm39) |
L54P |
unknown |
Het |
| Ablim3 |
A |
G |
18: 61,978,920 (GRCm39) |
S204P |
probably benign |
Het |
| Acadl |
A |
G |
1: 66,892,400 (GRCm39) |
V141A |
probably benign |
Het |
| Ace3 |
A |
G |
11: 105,885,687 (GRCm39) |
D31G |
probably benign |
Het |
| Acte1 |
T |
C |
7: 143,437,713 (GRCm39) |
V137A |
possibly damaging |
Het |
| Adam11 |
T |
G |
11: 102,660,724 (GRCm39) |
V85G |
probably benign |
Het |
| Adarb1 |
A |
T |
10: 77,157,982 (GRCm39) |
M155K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 78,111,415 (GRCm39) |
T376M |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,979,310 (GRCm39) |
T668K |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,659 (GRCm39) |
E717G |
probably damaging |
Het |
| Cdh17 |
T |
A |
4: 11,771,329 (GRCm39) |
I37N |
probably damaging |
Het |
| Cfap99 |
T |
G |
5: 34,458,741 (GRCm39) |
F45L |
probably benign |
Het |
| Chsy1 |
C |
A |
7: 65,822,148 (GRCm39) |
H794Q |
probably benign |
Het |
| Clec4a3 |
G |
A |
6: 122,931,045 (GRCm39) |
V45I |
probably benign |
Het |
| Clic3 |
G |
A |
2: 25,347,730 (GRCm39) |
V32I |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,531,584 (GRCm39) |
D740E |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,426,004 (GRCm39) |
V1062I |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,431,973 (GRCm39) |
|
probably null |
Het |
| Cyp2j11 |
C |
T |
4: 96,195,596 (GRCm39) |
V367I |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,993,650 (GRCm39) |
A821T |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,786,572 (GRCm39) |
E107K |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,894 (GRCm39) |
V484A |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,308,940 (GRCm39) |
T354A |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,378,486 (GRCm39) |
D54G |
probably benign |
Het |
| Gm4787 |
T |
A |
12: 81,426,020 (GRCm39) |
E46V |
probably damaging |
Het |
| Gm47995 |
A |
G |
1: 151,074,226 (GRCm39) |
T10A |
possibly damaging |
Het |
| Gnb1l |
T |
A |
16: 18,359,745 (GRCm39) |
I50N |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,462,523 (GRCm39) |
V22D |
probably damaging |
Het |
| Gstt4 |
C |
T |
10: 75,650,959 (GRCm39) |
C221Y |
probably benign |
Het |
| Hmces |
T |
C |
6: 87,910,256 (GRCm39) |
V222A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,702 (GRCm39) |
D62E |
probably benign |
Het |
| Kcnmb2 |
T |
A |
3: 32,236,018 (GRCm39) |
V89E |
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,851,507 (GRCm39) |
N63I |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,015,600 (GRCm39) |
M578V |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,835,927 (GRCm39) |
C1335S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,862,330 (GRCm39) |
E2622G |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,532,793 (GRCm39) |
H47L |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,010,665 (GRCm39) |
K618R |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,556,586 (GRCm39) |
I92T |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,626,184 (GRCm39) |
I223V |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,481,594 (GRCm39) |
I306N |
probably benign |
Het |
| Myo3b |
T |
A |
2: 69,925,553 (GRCm39) |
S35T |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,634,347 (GRCm39) |
V700E |
probably damaging |
Het |
| Oit3 |
T |
A |
10: 59,277,505 (GRCm39) |
M1L |
unknown |
Het |
| Or4c1 |
A |
T |
2: 89,133,075 (GRCm39) |
I287N |
probably damaging |
Het |
| Or51l14 |
T |
A |
7: 103,100,618 (GRCm39) |
F25I |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,816 (GRCm39) |
I114K |
probably damaging |
Het |
| Peg3 |
T |
G |
7: 6,710,998 (GRCm39) |
D1408A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,475,120 (GRCm39) |
S201R |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,000,631 (GRCm39) |
M196K |
unknown |
Het |
| Psmd5 |
A |
G |
2: 34,744,338 (GRCm39) |
S395P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,176,474 (GRCm39) |
I1701V |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,312,303 (GRCm39) |
H181R |
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,411,184 (GRCm39) |
A157T |
probably damaging |
Het |
| Rrad |
T |
A |
8: 105,356,359 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
A |
15: 84,092,042 (GRCm39) |
L339Q |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,154,957 (GRCm39) |
E212G |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 75,939,148 (GRCm39) |
D146G |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,885,605 (GRCm39) |
D502N |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,362,432 (GRCm39) |
S839P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,704,141 (GRCm39) |
D764G |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,829,884 (GRCm39) |
A590V |
probably damaging |
Het |
| Smad9 |
T |
A |
3: 54,696,756 (GRCm39) |
F274I |
possibly damaging |
Het |
| Snx4 |
A |
G |
16: 33,106,380 (GRCm39) |
E271G |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,122,573 (GRCm39) |
V3479A |
probably benign |
Het |
| Tektip1 |
C |
A |
10: 81,201,611 (GRCm39) |
V4L |
probably benign |
Het |
| Thap4 |
G |
A |
1: 93,678,028 (GRCm39) |
R253* |
probably null |
Het |
| Tmem65 |
T |
A |
15: 58,662,028 (GRCm39) |
I144F |
|
Het |
| Tnrc6a |
G |
A |
7: 122,778,958 (GRCm39) |
R1223Q |
probably benign |
Het |
| Traf7 |
CA |
CAA |
17: 24,746,737 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,747,226 (GRCm39) |
Y1424C |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,763,478 (GRCm39) |
Y2457N |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,508 (GRCm39) |
S251P |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,469 (GRCm39) |
E273V |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,181,156 (GRCm39) |
D466G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,345,976 (GRCm39) |
V2739A |
probably benign |
Het |
| Zc3h4 |
C |
T |
7: 16,168,675 (GRCm39) |
S1003F |
unknown |
Het |
| Zyg11a |
A |
T |
4: 108,075,102 (GRCm39) |
H6Q |
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 |
|
R5617:Slfn8
|
UTSW |
11 |
82,895,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- CACAGGATGCTCACTCTTGTTAG -3'
(R):5'- ATTGCCCCTTCAAAACAGTTTC -3'
Sequencing Primer
(F):5'- ACTCTTGTTAGTCATTTGCATAGC -3'
(R):5'- TGCCCCTTCAAAACAGTTTCTAAAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation