Incidental Mutation 'R5213:Resf1'
ID |
403264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Resf1
|
Ensembl Gene |
ENSMUSG00000032712 |
Gene Name |
retroelement silencing factor 1 |
Synonyms |
2810474O19Rik, GET |
MMRRC Submission |
042854-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5213 (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 A
at 149227551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 199
(P199Q)
|
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: P199Q
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041180 Gene: ENSMUSG00000032712 AA Change: P199Q
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: P199Q
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000098328 Gene: ENSMUSG00000032712 AA Change: P199Q
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130664
AA Change: P199Q
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189837
AA Change: P199Q
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139660 Gene: ENSMUSG00000032712 AA Change: P199Q
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: P199Q
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140026 Gene: ENSMUSG00000032712 AA Change: P199Q
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
AA Change: P199Q
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139624 Gene: ENSMUSG00000032712 AA Change: P199Q
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
C |
A |
4: 86,303,865 (GRCm39) |
H1342N |
possibly damaging |
Het |
Adcy2 |
G |
T |
13: 68,768,942 (GRCm39) |
T1062K |
possibly damaging |
Het |
Aqr |
T |
C |
2: 113,943,808 (GRCm39) |
N1110S |
probably damaging |
Het |
Atp10a |
C |
T |
7: 58,423,731 (GRCm39) |
T232I |
probably damaging |
Het |
Atp5pb |
T |
A |
3: 105,863,227 (GRCm39) |
K70* |
probably null |
Het |
Atp8b4 |
A |
C |
2: 126,231,329 (GRCm39) |
|
probably null |
Het |
Atraid |
A |
C |
5: 31,209,552 (GRCm39) |
Q72P |
probably damaging |
Het |
Atxn2 |
G |
T |
5: 121,952,543 (GRCm39) |
|
probably null |
Het |
Best3 |
A |
T |
10: 116,860,377 (GRCm39) |
T546S |
probably benign |
Het |
Brd3 |
T |
C |
2: 27,353,960 (GRCm39) |
K51E |
possibly damaging |
Het |
Brip1 |
A |
G |
11: 86,034,147 (GRCm39) |
S525P |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,387,177 (GRCm39) |
I1701T |
probably benign |
Het |
Chrna9 |
A |
T |
5: 66,128,427 (GRCm39) |
K208* |
probably null |
Het |
Clec2l |
T |
A |
6: 38,657,127 (GRCm39) |
C197S |
probably damaging |
Het |
Crp |
A |
G |
1: 172,526,086 (GRCm39) |
H57R |
probably benign |
Het |
Cyp27b1 |
C |
A |
10: 126,887,964 (GRCm39) |
T492N |
probably damaging |
Het |
Dock4 |
A |
T |
12: 40,726,741 (GRCm39) |
I340F |
probably damaging |
Het |
Dsg1b |
A |
T |
18: 20,528,987 (GRCm39) |
D241V |
probably damaging |
Het |
Epg5 |
G |
T |
18: 78,058,049 (GRCm39) |
V1865L |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,819,614 (GRCm39) |
|
probably null |
Het |
Fat2 |
C |
T |
11: 55,144,658 (GRCm39) |
C4072Y |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,034,340 (GRCm39) |
I2664N |
possibly damaging |
Het |
Gabrp |
A |
G |
11: 33,517,211 (GRCm39) |
|
probably null |
Het |
Glis2 |
G |
T |
16: 4,431,946 (GRCm39) |
|
probably benign |
Het |
Gm17654 |
A |
G |
14: 43,816,559 (GRCm39) |
S15P |
probably damaging |
Het |
Gm21836 |
A |
G |
9: 124,252,736 (GRCm39) |
V14A |
unknown |
Het |
Gon7 |
G |
A |
12: 102,720,380 (GRCm39) |
T84I |
possibly damaging |
Het |
Greb1 |
G |
T |
12: 16,764,791 (GRCm39) |
Y447* |
probably null |
Het |
Grip2 |
A |
T |
6: 91,756,812 (GRCm39) |
D546E |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,849,316 (GRCm39) |
|
probably null |
Het |
Il36a |
T |
A |
2: 24,114,486 (GRCm39) |
F120L |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,150,920 (GRCm39) |
V842A |
probably benign |
Het |
Khsrp |
G |
A |
17: 57,331,366 (GRCm39) |
A404V |
probably benign |
Het |
Map3k11 |
T |
C |
19: 5,740,669 (GRCm39) |
V132A |
probably damaging |
Het |
Mcub |
A |
C |
3: 129,710,646 (GRCm39) |
F262C |
probably benign |
Het |
Msantd5f6 |
G |
T |
4: 73,319,571 (GRCm39) |
Q302K |
probably damaging |
Het |
Mysm1 |
A |
T |
4: 94,836,614 (GRCm39) |
V732E |
probably damaging |
Het |
Npr2 |
T |
A |
4: 43,640,673 (GRCm39) |
|
probably null |
Het |
Or10d5 |
A |
C |
9: 39,861,389 (GRCm39) |
I226S |
probably damaging |
Het |
Or12d12 |
T |
C |
17: 37,610,942 (GRCm39) |
I124V |
probably damaging |
Het |
Or5k1b |
T |
C |
16: 58,580,984 (GRCm39) |
Y185C |
probably damaging |
Het |
Oxgr1 |
G |
T |
14: 120,259,552 (GRCm39) |
Y218* |
probably null |
Het |
Paf1 |
A |
G |
7: 28,095,397 (GRCm39) |
Q161R |
possibly damaging |
Het |
Pck1 |
A |
T |
2: 172,997,878 (GRCm39) |
K316* |
probably null |
Het |
Plac8 |
T |
A |
5: 100,704,371 (GRCm39) |
M109L |
probably benign |
Het |
Plagl2 |
A |
T |
2: 153,074,239 (GRCm39) |
C221S |
probably damaging |
Het |
Polg |
T |
C |
7: 79,103,846 (GRCm39) |
D870G |
probably damaging |
Het |
Polr2k |
T |
A |
15: 36,175,143 (GRCm39) |
M1K |
probably null |
Het |
Prdm9 |
T |
C |
17: 15,775,416 (GRCm39) |
H276R |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
Serpina3i |
A |
G |
12: 104,231,914 (GRCm39) |
I184V |
probably benign |
Het |
Shank3 |
A |
G |
15: 89,417,481 (GRCm39) |
E26G |
possibly damaging |
Het |
Skil |
T |
C |
3: 31,171,600 (GRCm39) |
S575P |
probably damaging |
Het |
Slc13a1 |
A |
G |
6: 24,108,158 (GRCm39) |
L306P |
probably damaging |
Het |
Slc20a1 |
G |
T |
2: 129,042,429 (GRCm39) |
W166L |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Snrnp200 |
G |
T |
2: 127,073,661 (GRCm39) |
G1353V |
probably damaging |
Het |
Spata6l |
A |
T |
19: 28,940,964 (GRCm39) |
V50E |
probably benign |
Het |
Sphkap |
A |
G |
1: 83,258,224 (GRCm39) |
I173T |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,743,061 (GRCm39) |
F1183I |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,529,707 (GRCm39) |
D1988G |
probably damaging |
Het |
Tank |
T |
A |
2: 61,480,292 (GRCm39) |
I276N |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,568,401 (GRCm39) |
W652R |
probably damaging |
Het |
Tgm2 |
G |
A |
2: 157,984,980 (GRCm39) |
T42I |
possibly damaging |
Het |
Tnni2 |
G |
T |
7: 141,997,039 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
G |
1: 73,992,771 (GRCm39) |
S9P |
probably damaging |
Het |
Tram1 |
T |
C |
1: 13,649,966 (GRCm39) |
Y86C |
probably damaging |
Het |
Trdv2-1 |
T |
C |
14: 54,183,863 (GRCm39) |
S32P |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
Trpm3 |
T |
G |
19: 22,674,818 (GRCm39) |
Y72* |
probably null |
Het |
Ube2o |
G |
A |
11: 116,432,285 (GRCm39) |
P894S |
possibly damaging |
Het |
Ubr4 |
C |
T |
4: 139,129,877 (GRCm39) |
R666* |
probably null |
Het |
Ugt1a8 |
T |
A |
1: 88,015,845 (GRCm39) |
L86* |
probably null |
Het |
Usp32 |
T |
A |
11: 84,913,085 (GRCm39) |
N941I |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,512,504 (GRCm39) |
V2322M |
probably damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,967,136 (GRCm39) |
Y294F |
probably damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,691,755 (GRCm39) |
N256S |
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,888,197 (GRCm39) |
S557P |
probably damaging |
Het |
Xrra1 |
C |
A |
7: 99,547,690 (GRCm39) |
P293Q |
possibly damaging |
Het |
Zc3h18 |
A |
G |
8: 123,110,388 (GRCm39) |
D79G |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,634,668 (GRCm39) |
Y347N |
probably damaging |
Het |
Zfp740 |
T |
C |
15: 102,121,082 (GRCm39) |
C169R |
possibly 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 |
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 |
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 |
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'- TGCCTTCCCATACAGAAGC -3'
(R):5'- GCAGAGAGTCTTTTGCTGGC -3'
Sequencing Primer
(F):5'- GAAGCAACCATATCTCATAATCCCG -3'
(R):5'- CATACTGATGTGATGACAAAGGTAC -3'
|
Posted On |
2016-07-22 |