Incidental Mutation 'R4913:Resf1'
ID |
379700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Resf1
|
Ensembl Gene |
ENSMUSG00000032712 |
Gene Name |
retroelement silencing factor 1 |
Synonyms |
2810474O19Rik, GET |
MMRRC Submission |
042515-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4913 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 149230887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 1311
(S1311C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140026
(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: S1311C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000041180 Gene: ENSMUSG00000032712 AA Change: S1311C
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100765
AA Change: S1311C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000098328 Gene: ENSMUSG00000032712 AA Change: S1311C
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130664
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189837
AA Change: S1311C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139660 Gene: ENSMUSG00000032712 AA Change: S1311C
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189932
AA Change: S1311C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140026 Gene: ENSMUSG00000032712 AA Change: S1311C
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
|
SMART Domains |
Protein: ENSMUSP00000139624 Gene: ENSMUSG00000032712
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
T |
A |
4: 144,255,381 (GRCm39) |
M267K |
possibly damaging |
Het |
Acsm5 |
T |
C |
7: 119,133,566 (GRCm39) |
S244P |
probably damaging |
Het |
Actr6 |
A |
G |
10: 89,550,808 (GRCm39) |
F329L |
probably benign |
Het |
Actrt3 |
A |
G |
3: 30,652,588 (GRCm39) |
S169P |
probably benign |
Het |
Agtpbp1 |
C |
A |
13: 59,647,886 (GRCm39) |
G645C |
probably damaging |
Het |
AI661453 |
C |
T |
17: 47,779,480 (GRCm39) |
R1069* |
probably null |
Het |
Akr1c6 |
T |
C |
13: 4,504,524 (GRCm39) |
I303T |
probably benign |
Het |
Arnt |
A |
G |
3: 95,397,965 (GRCm39) |
R588G |
probably damaging |
Het |
Atf1 |
A |
G |
15: 100,149,979 (GRCm39) |
|
probably null |
Het |
Casp12 |
T |
C |
9: 5,358,726 (GRCm39) |
V318A |
probably damaging |
Het |
Cblb |
C |
T |
16: 51,986,392 (GRCm39) |
P545L |
possibly damaging |
Het |
Cc2d2a |
A |
T |
5: 43,896,665 (GRCm39) |
I1521F |
probably benign |
Het |
Ccn2 |
T |
C |
10: 24,473,225 (GRCm39) |
C255R |
probably damaging |
Het |
Ccnb1ip1 |
T |
A |
14: 51,029,601 (GRCm39) |
K154* |
probably null |
Het |
Cd300a |
A |
T |
11: 114,784,198 (GRCm39) |
K69* |
probably null |
Het |
Cdin1 |
A |
G |
2: 115,500,568 (GRCm39) |
|
probably null |
Het |
Clec10a |
A |
G |
11: 70,060,851 (GRCm39) |
Y78C |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,489,695 (GRCm39) |
I503V |
possibly damaging |
Het |
Cpa2 |
A |
G |
6: 30,554,292 (GRCm39) |
H304R |
probably damaging |
Het |
Crb2 |
A |
T |
2: 37,680,257 (GRCm39) |
H395L |
probably benign |
Het |
Dnah8 |
T |
A |
17: 31,038,113 (GRCm39) |
N4257K |
probably damaging |
Het |
Dnase2a |
G |
A |
8: 85,635,477 (GRCm39) |
D25N |
probably damaging |
Het |
Drd1 |
T |
C |
13: 54,207,186 (GRCm39) |
T343A |
probably benign |
Het |
Emid1 |
G |
A |
11: 5,082,012 (GRCm39) |
T161I |
probably benign |
Het |
Epn2 |
A |
G |
11: 61,425,402 (GRCm39) |
|
probably null |
Het |
Esp36 |
A |
T |
17: 38,728,055 (GRCm39) |
N75K |
possibly damaging |
Het |
Faf1 |
A |
G |
4: 109,792,746 (GRCm39) |
S573G |
possibly damaging |
Het |
Fam149a |
T |
G |
8: 45,806,920 (GRCm39) |
S231R |
probably damaging |
Het |
Fam78a |
T |
C |
2: 31,959,774 (GRCm39) |
E112G |
probably damaging |
Het |
Fgf18 |
T |
C |
11: 33,084,316 (GRCm39) |
D46G |
probably benign |
Het |
Fggy |
G |
A |
4: 95,585,313 (GRCm39) |
|
probably null |
Het |
Foxb1 |
T |
C |
9: 69,666,859 (GRCm39) |
M224V |
probably benign |
Het |
Gpr75 |
T |
C |
11: 30,841,808 (GRCm39) |
C238R |
possibly damaging |
Het |
Gsdmc3 |
A |
G |
15: 63,730,122 (GRCm39) |
*481R |
probably null |
Het |
H2az2 |
C |
A |
11: 6,383,750 (GRCm39) |
A57S |
probably damaging |
Het |
Hsd17b11 |
T |
C |
5: 104,140,748 (GRCm39) |
I250V |
probably benign |
Het |
Hus1 |
C |
A |
11: 8,946,856 (GRCm39) |
L280F |
probably benign |
Het |
Ide |
A |
T |
19: 37,306,469 (GRCm39) |
H101Q |
unknown |
Het |
Ido1 |
T |
C |
8: 25,074,533 (GRCm39) |
D279G |
probably benign |
Het |
Inpp5b |
T |
C |
4: 124,674,214 (GRCm39) |
V307A |
probably benign |
Het |
Ipo5 |
G |
A |
14: 121,172,498 (GRCm39) |
V519I |
probably damaging |
Het |
Krba1 |
T |
C |
6: 48,383,891 (GRCm39) |
V239A |
probably benign |
Het |
Lmod3 |
A |
G |
6: 97,224,125 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,393,682 (GRCm39) |
D836G |
probably damaging |
Het |
Malt1 |
G |
T |
18: 65,609,351 (GRCm39) |
C774F |
probably damaging |
Het |
Map2k4 |
C |
A |
11: 65,600,758 (GRCm39) |
D58Y |
probably damaging |
Het |
Mc2r |
T |
C |
18: 68,540,411 (GRCm39) |
N294S |
probably benign |
Het |
Mybpc1 |
A |
G |
10: 88,389,116 (GRCm39) |
|
probably null |
Het |
Mybpc3 |
A |
G |
2: 90,956,609 (GRCm39) |
E637G |
possibly damaging |
Het |
Narf |
A |
G |
11: 121,135,469 (GRCm39) |
Q107R |
probably damaging |
Het |
Nlrp3 |
G |
A |
11: 59,440,064 (GRCm39) |
G547D |
probably benign |
Het |
Nucb2 |
G |
T |
7: 116,123,540 (GRCm39) |
G51* |
probably null |
Het |
Or10al5 |
T |
A |
17: 38,063,315 (GRCm39) |
V190D |
possibly damaging |
Het |
Otog |
C |
A |
7: 45,913,526 (GRCm39) |
D786E |
probably benign |
Het |
Otogl |
T |
C |
10: 107,712,716 (GRCm39) |
T543A |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,339,513 (GRCm39) |
F584L |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,476,704 (GRCm39) |
N266S |
probably benign |
Het |
Pink1 |
G |
T |
4: 138,042,866 (GRCm39) |
S446* |
probably null |
Het |
Pkp4 |
T |
G |
2: 59,135,794 (GRCm39) |
H186Q |
probably damaging |
Het |
Prl3b1 |
T |
C |
13: 27,433,460 (GRCm39) |
V205A |
probably damaging |
Het |
Prss32 |
T |
C |
17: 24,078,157 (GRCm39) |
V281A |
probably damaging |
Het |
Psd3 |
C |
T |
8: 68,573,821 (GRCm39) |
C120Y |
probably damaging |
Het |
Ptcra |
A |
G |
17: 47,069,574 (GRCm39) |
L99P |
probably damaging |
Het |
Rab3gap2 |
C |
T |
1: 184,995,026 (GRCm39) |
T855I |
probably benign |
Het |
Rabgap1l |
T |
C |
1: 160,066,111 (GRCm39) |
E199G |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,083,216 (GRCm39) |
C580S |
probably damaging |
Het |
Rhoq |
T |
C |
17: 87,302,493 (GRCm39) |
V143A |
probably benign |
Het |
Sacs |
T |
A |
14: 61,451,246 (GRCm39) |
Y4431N |
probably benign |
Het |
Sec24b |
A |
T |
3: 129,796,028 (GRCm39) |
S367T |
probably benign |
Het |
Sema4c |
G |
A |
1: 36,589,266 (GRCm39) |
S620F |
probably benign |
Het |
Slc12a1 |
G |
A |
2: 125,070,670 (GRCm39) |
G1054E |
probably damaging |
Het |
Slc16a3 |
A |
G |
11: 120,848,794 (GRCm39) |
R417G |
probably benign |
Het |
Slc22a29 |
A |
T |
19: 8,195,722 (GRCm39) |
S106T |
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,149,284 (GRCm39) |
T220A |
probably damaging |
Het |
Tap1 |
T |
C |
17: 34,412,468 (GRCm39) |
F474L |
possibly damaging |
Het |
Tas2r106 |
G |
T |
6: 131,655,422 (GRCm39) |
A143D |
probably benign |
Het |
Tbx6 |
A |
T |
7: 126,383,707 (GRCm39) |
|
probably null |
Het |
Tfap2a |
T |
A |
13: 40,870,706 (GRCm39) |
N402I |
probably damaging |
Het |
Tle3 |
T |
A |
9: 61,281,275 (GRCm39) |
V22E |
probably damaging |
Het |
Trip4 |
T |
C |
9: 65,765,639 (GRCm39) |
I353M |
probably damaging |
Het |
Ubr2 |
C |
A |
17: 47,270,385 (GRCm39) |
|
probably null |
Het |
Ugdh |
A |
G |
5: 65,580,791 (GRCm39) |
|
probably null |
Het |
Uhrf1 |
T |
C |
17: 56,622,478 (GRCm39) |
V431A |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Zfp820 |
T |
C |
17: 22,038,200 (GRCm39) |
K376R |
probably benign |
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 |
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 |
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'- TGCAGGAATATTTACAACGGCAG -3'
(R):5'- TGTGCATTTAAACGCAACTCG -3'
Sequencing Primer
(F):5'- GCTTCCAGAAACATCTGTGTAG -3'
(R):5'- CGCAACTCGATTCAAGTACTG -3'
|
Posted On |
2016-04-15 |