Incidental Mutation 'R1587:Resf1'
| ID |
177565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
039624-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1587 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 149228018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 355
(V355F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046689]
[ENSMUST00000100765]
[ENSMUST00000127680]
[ENSMUST00000130664]
[ENSMUST00000185930]
[ENSMUST00000187881]
[ENSMUST00000189837]
[ENSMUST00000189932]
[ENSMUST00000190785]
|
| AlphaFold |
Q5DTW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046689
AA Change: V355F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: V355F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100765
AA Change: V355F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: V355F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130664
AA Change: V355F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189837
AA Change: V355F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: V355F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189932
AA Change: V355F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: V355F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190785
AA Change: V355F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: V355F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,585 (GRCm39) |
S111T |
probably benign |
Het |
| Abhd2 |
A |
T |
7: 79,003,758 (GRCm39) |
H279L |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
| Agrn |
T |
C |
4: 156,263,897 (GRCm39) |
Q122R |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,230,184 (GRCm39) |
F1218I |
probably damaging |
Het |
| Bud13 |
C |
T |
9: 46,201,513 (GRCm39) |
P395S |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,394,783 (GRCm39) |
V225M |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,210,373 (GRCm39) |
S248T |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 110,027,757 (GRCm39) |
Q501K |
probably damaging |
Het |
| Cwc27 |
T |
C |
13: 104,929,145 (GRCm39) |
D266G |
probably benign |
Het |
| Cyp2d40 |
T |
A |
15: 82,645,334 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
G |
4: 115,467,731 (GRCm39) |
N238K |
probably benign |
Het |
| Ddx11 |
T |
C |
17: 66,456,251 (GRCm39) |
L770P |
probably damaging |
Het |
| Dgcr8 |
C |
T |
16: 18,098,155 (GRCm39) |
G412E |
probably damaging |
Het |
| Disp2 |
C |
A |
2: 118,622,064 (GRCm39) |
A932D |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,922,572 (GRCm39) |
N291K |
possibly damaging |
Het |
| Dnajc7 |
A |
G |
11: 100,492,556 (GRCm39) |
I39T |
probably damaging |
Het |
| Elp1 |
G |
A |
4: 56,786,666 (GRCm39) |
Q426* |
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,296 (GRCm39) |
V316A |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,874,768 (GRCm39) |
T944I |
probably benign |
Het |
| Ezh2 |
T |
G |
6: 47,529,424 (GRCm39) |
|
probably null |
Het |
| F7 |
A |
T |
8: 13,084,783 (GRCm39) |
I270F |
possibly damaging |
Het |
| Fancc |
A |
G |
13: 63,488,246 (GRCm39) |
F245L |
probably benign |
Het |
| Fzd7 |
G |
A |
1: 59,522,165 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Gm29394 |
A |
G |
15: 57,892,008 (GRCm39) |
*200Q |
probably null |
Het |
| Ints8 |
A |
G |
4: 11,245,722 (GRCm39) |
|
probably null |
Het |
| Krt36 |
A |
T |
11: 99,993,128 (GRCm39) |
I449N |
probably damaging |
Het |
| Ldlr |
A |
T |
9: 21,649,209 (GRCm39) |
H328L |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,303,455 (GRCm39) |
N101S |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,306,650 (GRCm39) |
N321S |
probably benign |
Het |
| Mafk |
T |
C |
5: 139,785,900 (GRCm39) |
S33P |
probably damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,244,958 (GRCm39) |
Y831C |
probably damaging |
Het |
| Mfge8 |
T |
A |
7: 78,784,513 (GRCm39) |
I344F |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,867,061 (GRCm39) |
V1430A |
probably benign |
Het |
| Nbas |
G |
A |
12: 13,608,686 (GRCm39) |
R2154H |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,959 (GRCm39) |
R355H |
probably damaging |
Het |
| Noc4l |
T |
C |
5: 110,800,889 (GRCm39) |
T76A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,763 (GRCm39) |
C583S |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,113 (GRCm39) |
I318F |
probably damaging |
Het |
| Phf1 |
T |
A |
17: 27,156,466 (GRCm39) |
V536D |
probably damaging |
Het |
| Prpf4b |
C |
A |
13: 35,076,133 (GRCm39) |
A641D |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,182,334 (GRCm39) |
I433T |
probably benign |
Het |
| S100a3 |
G |
A |
3: 90,509,618 (GRCm39) |
E88K |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,687,108 (GRCm39) |
I31V |
probably benign |
Het |
| Son |
T |
A |
16: 91,456,606 (GRCm39) |
S1784R |
probably damaging |
Het |
| Srbd1 |
G |
T |
17: 86,292,865 (GRCm39) |
D901E |
probably damaging |
Het |
| St8sia6 |
C |
T |
2: 13,677,416 (GRCm39) |
D134N |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,047 (GRCm39) |
D423V |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,383 (GRCm39) |
S158P |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,002 (GRCm39) |
V785E |
probably damaging |
Het |
| Zfp143 |
A |
G |
7: 109,673,275 (GRCm39) |
D124G |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,754,484 (GRCm39) |
L54P |
probably damaging |
Het |
| Zfp324 |
G |
T |
7: 12,704,570 (GRCm39) |
S253I |
possibly damaging |
Het |
| Zfp59 |
A |
G |
7: 27,553,559 (GRCm39) |
E337G |
possibly damaging |
Het |
| Zfp663 |
G |
T |
2: 165,195,437 (GRCm39) |
Q261K |
probably benign |
Het |
| Zhx3 |
T |
C |
2: 160,623,613 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Resf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Resf1
|
APN |
6 |
149,236,248 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01401:Resf1
|
APN |
6 |
149,228,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01461:Resf1
|
APN |
6 |
149,233,013 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01610:Resf1
|
APN |
6 |
149,230,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02873:Resf1
|
APN |
6 |
149,228,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03202:Resf1
|
APN |
6 |
149,227,937 (GRCm39) |
missense |
probably benign |
0.08 |
|
grand_junction
|
UTSW |
6 |
149,229,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
grand_marais
|
UTSW |
6 |
149,227,958 (GRCm39) |
nonsense |
probably null |
|
|
3-1:Resf1
|
UTSW |
6 |
149,229,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
B6584:Resf1
|
UTSW |
6 |
149,230,844 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4280001:Resf1
|
UTSW |
6 |
149,227,023 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0053:Resf1
|
UTSW |
6 |
149,229,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0053:Resf1
|
UTSW |
6 |
149,229,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0243:Resf1
|
UTSW |
6 |
149,227,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Resf1
|
UTSW |
6 |
149,229,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Resf1
|
UTSW |
6 |
149,227,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0727:Resf1
|
UTSW |
6 |
149,227,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0904:Resf1
|
UTSW |
6 |
149,229,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1221:Resf1
|
UTSW |
6 |
149,227,719 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1282:Resf1
|
UTSW |
6 |
149,230,670 (GRCm39) |
nonsense |
probably null |
|
|
R1435:Resf1
|
UTSW |
6 |
149,227,580 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1452:Resf1
|
UTSW |
6 |
149,228,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Resf1
|
UTSW |
6 |
149,230,342 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1926:Resf1
|
UTSW |
6 |
149,230,902 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1978:Resf1
|
UTSW |
6 |
149,227,930 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2035:Resf1
|
UTSW |
6 |
149,230,724 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2136:Resf1
|
UTSW |
6 |
149,230,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2333:Resf1
|
UTSW |
6 |
149,229,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Resf1
|
UTSW |
6 |
149,236,145 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3027:Resf1
|
UTSW |
6 |
149,230,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3121:Resf1
|
UTSW |
6 |
149,230,741 (GRCm39) |
nonsense |
probably null |
|
|
R3707:Resf1
|
UTSW |
6 |
149,230,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4204:Resf1
|
UTSW |
6 |
149,231,042 (GRCm39) |
nonsense |
probably null |
|
|
R4247:Resf1
|
UTSW |
6 |
149,227,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4249:Resf1
|
UTSW |
6 |
149,227,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4304:Resf1
|
UTSW |
6 |
149,227,736 (GRCm39) |
nonsense |
probably null |
|
|
R4385:Resf1
|
UTSW |
6 |
149,227,706 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4702:Resf1
|
UTSW |
6 |
149,230,901 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4747:Resf1
|
UTSW |
6 |
149,228,392 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4912:Resf1
|
UTSW |
6 |
149,230,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Resf1
|
UTSW |
6 |
149,230,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Resf1
|
UTSW |
6 |
149,229,896 (GRCm39) |
nonsense |
probably null |
|
|
R4971:Resf1
|
UTSW |
6 |
149,227,097 (GRCm39) |
unclassified |
probably benign |
|
|
R5077:Resf1
|
UTSW |
6 |
149,227,528 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5213:Resf1
|
UTSW |
6 |
149,227,551 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5382:Resf1
|
UTSW |
6 |
149,227,958 (GRCm39) |
nonsense |
probably null |
|
|
R5418:Resf1
|
UTSW |
6 |
149,227,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Resf1
|
UTSW |
6 |
149,230,611 (GRCm39) |
nonsense |
probably null |
|
|
R5498:Resf1
|
UTSW |
6 |
149,229,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5673:Resf1
|
UTSW |
6 |
149,229,491 (GRCm39) |
nonsense |
probably null |
|
|
R5690:Resf1
|
UTSW |
6 |
149,229,735 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5916:Resf1
|
UTSW |
6 |
149,228,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Resf1
|
UTSW |
6 |
149,236,179 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6160:Resf1
|
UTSW |
6 |
149,233,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6280:Resf1
|
UTSW |
6 |
149,228,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Resf1
|
UTSW |
6 |
149,230,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6396:Resf1
|
UTSW |
6 |
149,229,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Resf1
|
UTSW |
6 |
149,229,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6972:Resf1
|
UTSW |
6 |
149,227,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7127:Resf1
|
UTSW |
6 |
149,229,443 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7168:Resf1
|
UTSW |
6 |
149,229,341 (GRCm39) |
missense |
probably benign |
|
|
R7316:Resf1
|
UTSW |
6 |
149,228,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7586:Resf1
|
UTSW |
6 |
149,228,291 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7719:Resf1
|
UTSW |
6 |
149,228,853 (GRCm39) |
missense |
probably benign |
|
|
R7751:Resf1
|
UTSW |
6 |
149,226,936 (GRCm39) |
start gained |
probably benign |
|
|
R8013:Resf1
|
UTSW |
6 |
149,230,368 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8358:Resf1
|
UTSW |
6 |
149,228,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8393:Resf1
|
UTSW |
6 |
149,229,998 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8968:Resf1
|
UTSW |
6 |
149,228,664 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8977:Resf1
|
UTSW |
6 |
149,229,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8981:Resf1
|
UTSW |
6 |
149,227,997 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9106:Resf1
|
UTSW |
6 |
149,230,368 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9208:Resf1
|
UTSW |
6 |
149,228,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9294:Resf1
|
UTSW |
6 |
149,227,930 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9352:Resf1
|
UTSW |
6 |
149,236,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Resf1
|
UTSW |
6 |
149,228,132 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9513:Resf1
|
UTSW |
6 |
149,229,793 (GRCm39) |
nonsense |
probably null |
|
|
R9566:Resf1
|
UTSW |
6 |
149,227,352 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9623:Resf1
|
UTSW |
6 |
149,226,965 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9689:Resf1
|
UTSW |
6 |
149,229,766 (GRCm39) |
nonsense |
probably null |
|
|
R9752:Resf1
|
UTSW |
6 |
149,228,068 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9794:Resf1
|
UTSW |
6 |
149,228,239 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACATGTGCAGAATGCTCAGC -3'
(R):5'- TCACAGCTCGGTATGAGAACTGGC -3'
Sequencing Primer
(F):5'- GCCTATGGAAGTTCCTCAGAG -3'
(R):5'- GATTGGCACTGCCCACTAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation