Incidental Mutation 'R6191:Slfn8'
| ID |
502584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
044331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82907626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 306
(Y306H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038141
AA Change: Y306H
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: Y306H
| 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: Y306H
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: Y306H
| 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 |
possibly damaging
Transcript: ENSMUST00000108152
AA Change: Y306H
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: Y306H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130822
AA Change: Y306H
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: Y306H
| 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: Y127H
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: Y127H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
27 |
163 |
1.8e-15 |
PFAM |
|
SCOP:d1ly1a_
|
370 |
402 |
2e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215239
AA Change: Y306H
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (84/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
C |
9: 55,909,807 (GRCm39) |
D144E |
possibly damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,419 (GRCm39) |
K334N |
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,846,380 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
C |
A |
9: 21,210,601 (GRCm39) |
V343F |
probably benign |
Het |
| Apol6 |
T |
C |
15: 76,940,098 (GRCm39) |
V307A |
probably benign |
Het |
| Arsi |
C |
A |
18: 61,045,544 (GRCm39) |
A78E |
probably damaging |
Het |
| B2m |
A |
T |
2: 121,981,396 (GRCm39) |
N37I |
possibly damaging |
Het |
| Bltp3b |
G |
T |
10: 89,641,180 (GRCm39) |
G784C |
possibly damaging |
Het |
| C8a |
T |
C |
4: 104,703,100 (GRCm39) |
K363R |
probably benign |
Het |
| Ccdc117 |
C |
A |
11: 5,484,242 (GRCm39) |
|
probably null |
Het |
| Ccdc154 |
C |
A |
17: 25,386,945 (GRCm39) |
Q325K |
probably damaging |
Het |
| Cd300e |
A |
T |
11: 114,945,359 (GRCm39) |
V145E |
possibly damaging |
Het |
| Col19a1 |
G |
T |
1: 24,356,474 (GRCm39) |
P673Q |
probably damaging |
Het |
| Csn2 |
A |
G |
5: 87,843,885 (GRCm39) |
|
probably null |
Het |
| Ctnna1 |
T |
C |
18: 35,307,408 (GRCm39) |
V135A |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,154,632 (GRCm39) |
D216V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,431,412 (GRCm39) |
H410R |
probably benign |
Het |
| Dock2 |
C |
T |
11: 34,181,652 (GRCm39) |
R1637H |
possibly damaging |
Het |
| Dspp |
A |
G |
5: 104,325,214 (GRCm39) |
N526D |
unknown |
Het |
| Frem2 |
T |
C |
3: 53,562,701 (GRCm39) |
H602R |
probably benign |
Het |
| Galc |
A |
T |
12: 98,218,293 (GRCm39) |
H186Q |
probably damaging |
Het |
| Grina |
T |
C |
15: 76,133,218 (GRCm39) |
V262A |
probably damaging |
Het |
| Gse1 |
G |
A |
8: 121,280,542 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
C |
A |
17: 34,312,842 (GRCm39) |
Q40K |
probably damaging |
Het |
| Hfm1 |
C |
A |
5: 107,034,419 (GRCm39) |
D763Y |
possibly damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,348,758 (GRCm39) |
Y4925N |
probably damaging |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,029 (GRCm39) |
R366L |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Iqank1 |
T |
C |
15: 75,918,218 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,229,833 (GRCm39) |
V1221A |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,297,584 (GRCm39) |
N285S |
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,620,081 (GRCm39) |
N181K |
probably damaging |
Het |
| Kmt2a |
C |
A |
9: 44,738,125 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,827,752 (GRCm39) |
D2170G |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,822,404 (GRCm39) |
T2890S |
probably damaging |
Het |
| Lsm2 |
T |
A |
17: 35,201,131 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
G |
T |
10: 19,899,415 (GRCm39) |
C232F |
probably damaging |
Het |
| Mapk9 |
T |
G |
11: 49,754,383 (GRCm39) |
D45E |
probably damaging |
Het |
| Mpnd |
T |
C |
17: 56,319,482 (GRCm39) |
V315A |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 88,030,900 (GRCm39) |
I926V |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,650,521 (GRCm39) |
R1345H |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,457,058 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
C |
9: 58,796,312 (GRCm39) |
D1205G |
probably damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,559,291 (GRCm39) |
S259G |
probably benign |
Het |
| Nkain4 |
G |
A |
2: 180,577,796 (GRCm39) |
P186L |
probably damaging |
Het |
| Nkain4 |
G |
A |
2: 180,577,797 (GRCm39) |
P186S |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,109,283 (GRCm39) |
R73* |
probably null |
Het |
| Nr5a2 |
T |
C |
1: 136,818,536 (GRCm39) |
D330G |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,572,153 (GRCm39) |
L299P |
probably damaging |
Het |
| Or2v1 |
T |
C |
11: 49,025,877 (GRCm39) |
L286P |
probably damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,296 (GRCm39) |
V145A |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,279 (GRCm39) |
V319E |
probably benign |
Het |
| Pcsk6 |
T |
A |
7: 65,578,875 (GRCm39) |
D129E |
probably benign |
Het |
| Pld5 |
G |
A |
1: 175,798,100 (GRCm39) |
T433I |
probably benign |
Het |
| Plin1 |
A |
T |
7: 79,371,347 (GRCm39) |
L459H |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,284,499 (GRCm39) |
V121A |
probably damaging |
Het |
| Pxdn |
A |
T |
12: 30,032,716 (GRCm39) |
I167F |
possibly damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,320,384 (GRCm39) |
S569P |
probably damaging |
Het |
| Rfng |
T |
A |
11: 120,673,516 (GRCm39) |
T202S |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,730,696 (GRCm39) |
S266P |
probably benign |
Het |
| Sema3c |
G |
T |
5: 17,858,804 (GRCm39) |
V68L |
probably damaging |
Het |
| Slco6c1 |
C |
T |
1: 96,993,808 (GRCm39) |
R645H |
possibly damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,105 (GRCm39) |
D144G |
probably damaging |
Het |
| St7l |
T |
G |
3: 104,775,349 (GRCm39) |
F75C |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,992,468 (GRCm39) |
I145V |
probably damaging |
Het |
| Tekt3 |
C |
T |
11: 62,968,999 (GRCm39) |
A242V |
probably damaging |
Het |
| Tex44 |
A |
G |
1: 86,354,306 (GRCm39) |
|
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,844,988 (GRCm39) |
Q88R |
probably benign |
Het |
| Trav8n-2 |
T |
A |
14: 53,583,744 (GRCm39) |
I67N |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,677,770 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,861,051 (GRCm39) |
L253* |
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,201,289 (GRCm39) |
N1150K |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 187,995,298 (GRCm39) |
L23* |
probably null |
Het |
| Usp22 |
T |
A |
11: 61,065,602 (GRCm39) |
N37I |
probably benign |
Het |
| Usp53 |
T |
A |
3: 122,743,390 (GRCm39) |
K515N |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,322,702 (GRCm39) |
K6E |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,875,918 (GRCm39) |
V1530M |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,153,612 (GRCm39) |
I485V |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,155,156 (GRCm39) |
Y356H |
probably damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,917,900 (GRCm39) |
|
probably benign |
Het |
| Zfp345 |
A |
C |
2: 150,315,010 (GRCm39) |
Y176D |
probably benign |
Het |
| Zfp598 |
T |
C |
17: 24,896,850 (GRCm39) |
F238S |
possibly damaging |
Het |
| Zkscan17 |
T |
C |
11: 59,393,820 (GRCm39) |
D10G |
probably damaging |
Het |
| Zmat4 |
T |
G |
8: 24,392,083 (GRCm39) |
M13R |
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 |
|
|
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'- GCCAACTTCAGTGGGTGTAATG -3'
(R):5'- AGAATCATCTTGGGATGCCC -3'
Sequencing Primer
(F):5'- CCAACTTCAGTGGGTGTAATGAACTC -3'
(R):5'- GATGCCCAAAAGACAACGTTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation