Incidental Mutation 'R0633:Resf1'
ID |
58069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Resf1
|
Ensembl Gene |
ENSMUSG00000032712 |
Gene Name |
retroelement silencing factor 1 |
Synonyms |
2810474O19Rik, GET |
MMRRC Submission |
038822-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0633 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 149227199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 82
(I82L)
|
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 benign
Transcript: ENSMUST00000046689
AA Change: I82L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041180 Gene: ENSMUSG00000032712 AA Change: I82L
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: I82L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098328 Gene: ENSMUSG00000032712 AA Change: I82L
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
AA Change: I82L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130664
AA Change: I82L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
AA Change: I82L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189837
AA Change: I82L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139660 Gene: ENSMUSG00000032712 AA Change: I82L
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: I82L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140026 Gene: ENSMUSG00000032712 AA Change: I82L
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
AA Change: I82L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139624 Gene: ENSMUSG00000032712 AA Change: I82L
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
A |
T |
9: 30,854,807 (GRCm39) |
R18S |
probably damaging |
Het |
Adgb |
G |
A |
10: 10,267,473 (GRCm39) |
A923V |
probably benign |
Het |
Aldh1a3 |
A |
G |
7: 66,049,970 (GRCm39) |
V416A |
probably damaging |
Het |
Alox5 |
C |
T |
6: 116,397,345 (GRCm39) |
G280R |
probably damaging |
Het |
Anapc5 |
A |
T |
5: 122,938,695 (GRCm39) |
Y360N |
probably damaging |
Het |
Apbb1 |
C |
T |
7: 105,208,170 (GRCm39) |
V685I |
probably damaging |
Het |
Apc2 |
C |
A |
10: 80,143,289 (GRCm39) |
A463E |
probably damaging |
Het |
Arhgap21 |
C |
T |
2: 20,860,198 (GRCm39) |
W1170* |
probably null |
Het |
Atat1 |
G |
A |
17: 36,212,315 (GRCm39) |
R305C |
probably damaging |
Het |
Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
Cars2 |
T |
C |
8: 11,600,511 (GRCm39) |
D56G |
probably benign |
Het |
Ccdc202 |
T |
G |
14: 96,119,379 (GRCm39) |
N45K |
probably damaging |
Het |
Cdc42bpb |
T |
C |
12: 111,311,989 (GRCm39) |
I108V |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,305,979 (GRCm39) |
I1255K |
probably damaging |
Het |
Ckap5 |
T |
C |
2: 91,381,088 (GRCm39) |
L148P |
probably damaging |
Het |
Cntn4 |
A |
G |
6: 106,656,209 (GRCm39) |
|
probably null |
Het |
Cpe |
G |
A |
8: 65,062,237 (GRCm39) |
P273L |
probably damaging |
Het |
Cpsf7 |
A |
G |
19: 10,509,146 (GRCm39) |
D19G |
probably benign |
Het |
Ddx25 |
C |
A |
9: 35,457,268 (GRCm39) |
R349L |
probably damaging |
Het |
Depdc7 |
T |
C |
2: 104,553,226 (GRCm39) |
D446G |
probably benign |
Het |
Det1 |
T |
A |
7: 78,493,683 (GRCm39) |
N107I |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,755,713 (GRCm39) |
D170E |
probably benign |
Het |
Dvl1 |
C |
T |
4: 155,942,752 (GRCm39) |
L673F |
probably damaging |
Het |
Gucy1b1 |
A |
T |
3: 81,952,767 (GRCm39) |
I222K |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,065,467 (GRCm39) |
T71A |
possibly damaging |
Het |
Ikzf1 |
A |
G |
11: 11,719,223 (GRCm39) |
E310G |
probably damaging |
Het |
Impg1 |
T |
C |
9: 80,301,437 (GRCm39) |
E163G |
possibly damaging |
Het |
Itpr2 |
G |
T |
6: 146,275,954 (GRCm39) |
H426Q |
probably damaging |
Het |
Itpripl2 |
C |
T |
7: 118,089,479 (GRCm39) |
G360D |
probably benign |
Het |
Kif14 |
C |
T |
1: 136,455,043 (GRCm39) |
R1572C |
probably damaging |
Het |
L3mbtl3 |
A |
T |
10: 26,178,583 (GRCm39) |
H568Q |
unknown |
Het |
Lgi2 |
A |
G |
5: 52,711,802 (GRCm39) |
Y173H |
probably damaging |
Het |
Lpar5 |
A |
C |
6: 125,058,954 (GRCm39) |
Y225S |
probably benign |
Het |
Lpin3 |
A |
G |
2: 160,745,894 (GRCm39) |
H675R |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,278,464 (GRCm39) |
G3963V |
probably damaging |
Het |
Man1a2 |
G |
T |
3: 100,591,891 (GRCm39) |
D13E |
possibly damaging |
Het |
Map1a |
T |
C |
2: 121,138,495 (GRCm39) |
V2753A |
probably damaging |
Het |
Mitf |
C |
A |
6: 97,980,865 (GRCm39) |
N97K |
probably damaging |
Het |
Msh2 |
A |
G |
17: 87,980,238 (GRCm39) |
|
probably null |
Het |
Msr1 |
T |
C |
8: 40,073,041 (GRCm39) |
E170G |
probably damaging |
Het |
Myrip |
C |
A |
9: 120,217,302 (GRCm39) |
R79S |
probably damaging |
Het |
Nek10 |
G |
A |
14: 14,857,782 (GRCm38) |
|
probably null |
Het |
Neto1 |
C |
T |
18: 86,422,854 (GRCm39) |
R104* |
probably null |
Het |
Nom1 |
A |
C |
5: 29,656,098 (GRCm39) |
K821T |
probably damaging |
Het |
Nrxn1 |
A |
G |
17: 91,011,609 (GRCm39) |
V340A |
probably damaging |
Het |
Nxpe4 |
A |
T |
9: 48,307,897 (GRCm39) |
I334F |
probably benign |
Het |
Or1e23 |
A |
G |
11: 73,407,753 (GRCm39) |
S91P |
probably benign |
Het |
Or2ag1 |
T |
C |
7: 106,313,184 (GRCm39) |
K235E |
probably benign |
Het |
Or4a74 |
T |
C |
2: 89,439,718 (GRCm39) |
M243V |
probably benign |
Het |
Or5al7 |
T |
A |
2: 85,992,435 (GRCm39) |
N286I |
probably damaging |
Het |
Or5b124 |
T |
C |
19: 13,610,700 (GRCm39) |
V75A |
probably damaging |
Het |
Or8k27 |
C |
T |
2: 86,275,473 (GRCm39) |
M284I |
probably benign |
Het |
Padi4 |
A |
G |
4: 140,484,896 (GRCm39) |
S322P |
probably damaging |
Het |
Peli3 |
A |
G |
19: 4,991,810 (GRCm39) |
Y44H |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,743,767 (GRCm39) |
S163P |
probably damaging |
Het |
Prom2 |
T |
C |
2: 127,381,445 (GRCm39) |
D227G |
probably benign |
Het |
Ptgfr |
C |
T |
3: 151,507,400 (GRCm39) |
R321H |
probably benign |
Het |
Rgs3 |
G |
A |
4: 62,544,143 (GRCm39) |
R136H |
probably damaging |
Het |
Rgsl1 |
T |
G |
1: 153,719,853 (GRCm39) |
N3T |
possibly damaging |
Het |
Rif1 |
T |
C |
2: 52,002,575 (GRCm39) |
S2010P |
probably benign |
Het |
Rngtt |
T |
C |
4: 33,368,690 (GRCm39) |
F408L |
probably damaging |
Het |
Rtn3 |
T |
G |
19: 7,434,958 (GRCm39) |
T326P |
probably benign |
Het |
Slc18b1 |
A |
C |
10: 23,681,936 (GRCm39) |
M167L |
probably benign |
Het |
Slc22a26 |
A |
G |
19: 7,765,575 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
T |
C |
14: 110,989,317 (GRCm39) |
D130G |
probably damaging |
Het |
Snap47 |
A |
G |
11: 59,319,439 (GRCm39) |
V233A |
probably benign |
Het |
Sumf1 |
A |
C |
6: 108,121,632 (GRCm39) |
Y158D |
probably damaging |
Het |
Tbc1d15 |
A |
T |
10: 115,056,215 (GRCm39) |
H252Q |
probably benign |
Het |
Thsd7b |
T |
C |
1: 130,116,263 (GRCm39) |
S1339P |
possibly damaging |
Het |
Tmem45a2 |
T |
C |
16: 56,869,777 (GRCm39) |
I56V |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,066,577 (GRCm39) |
S359P |
probably benign |
Het |
Ttc27 |
T |
C |
17: 75,036,972 (GRCm39) |
I215T |
probably benign |
Het |
Ttn |
C |
T |
2: 76,554,539 (GRCm39) |
V30759I |
possibly damaging |
Het |
Vdac3 |
T |
C |
8: 23,070,404 (GRCm39) |
N168S |
probably damaging |
Het |
Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
Wrap73 |
T |
A |
4: 154,226,948 (GRCm39) |
F16Y |
probably damaging |
Het |
Zfat |
C |
A |
15: 68,052,652 (GRCm39) |
D381Y |
probably damaging |
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 |
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 |
R1587:Resf1
|
UTSW |
6 |
149,228,018 (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'- AAAACCCAGTCATCTATCTTGCAGCAT -3'
(R):5'- TGTAAGGCATATTAGTCCCTCCGTCG -3'
Sequencing Primer
(F):5'- TGCAGCATTTTTTAATGACTTCTAC -3'
(R):5'- TCCCTCCGTCGGGATTATGAG -3'
|
Posted On |
2013-07-11 |