Incidental Mutation 'R0727:Resf1'
| ID |
200638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
038909-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0727 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149227320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 122
(N122S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046689]
[ENSMUST00000100765]
[ENSMUST00000127680]
[ENSMUST00000130664]
[ENSMUST00000185930]
[ENSMUST00000187881]
[ENSMUST00000189837]
[ENSMUST00000189932]
[ENSMUST00000190785]
|
| AlphaFold |
Q5DTW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046689
AA Change: N122S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: N122S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100765
AA Change: N122S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: N122S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127680
AA Change: N122S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130664
AA Change: N122S
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189837
AA Change: N122S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: N122S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189932
AA Change: N122S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: N122S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
AA Change: N122S
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: N122S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Meta Mutation Damage Score |
0.0971 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.1%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
T |
C |
5: 26,016,937 (GRCm39) |
V83A |
possibly damaging |
Het |
| Adam2 |
A |
G |
14: 66,267,180 (GRCm39) |
I693T |
probably damaging |
Het |
| Adamts1 |
T |
C |
16: 85,595,536 (GRCm39) |
D214G |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,154,781 (GRCm39) |
Y36* |
probably null |
Het |
| Cacna1d |
A |
G |
14: 29,852,072 (GRCm39) |
|
probably null |
Het |
| Catsperb |
G |
T |
12: 101,560,614 (GRCm39) |
|
probably null |
Het |
| Ccdc88b |
T |
C |
19: 6,831,582 (GRCm39) |
M482V |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,610,786 (GRCm39) |
K723E |
probably benign |
Het |
| Cep112 |
G |
A |
11: 108,397,380 (GRCm39) |
R375H |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,025 (GRCm39) |
S211P |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,950,954 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,039,828 (GRCm39) |
V1027A |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,100,898 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,123,311 (GRCm39) |
H307R |
probably damaging |
Het |
| Faah |
A |
G |
4: 115,862,257 (GRCm39) |
I242T |
probably damaging |
Het |
| Farsa |
T |
A |
8: 85,587,933 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,907,995 (GRCm39) |
L2669R |
probably damaging |
Het |
| Fgfr4 |
C |
A |
13: 55,304,041 (GRCm39) |
|
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,739,034 (GRCm39) |
S55P |
probably damaging |
Het |
| Grhl3 |
T |
A |
4: 135,273,565 (GRCm39) |
K562N |
possibly damaging |
Het |
| H2bl1 |
A |
G |
13: 99,120,735 (GRCm39) |
V97A |
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,201,294 (GRCm39) |
V249A |
probably damaging |
Het |
| Hyal1 |
T |
C |
9: 107,455,601 (GRCm39) |
S304P |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,906 (GRCm39) |
|
probably null |
Het |
| Kif3c |
A |
G |
12: 3,416,776 (GRCm39) |
T266A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,640,956 (GRCm39) |
D3496G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,818,155 (GRCm39) |
V442G |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,648,044 (GRCm39) |
Y479C |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,954,350 (GRCm39) |
T52A |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,004,978 (GRCm39) |
D150G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,590,221 (GRCm39) |
M2927V |
probably benign |
Het |
| Obi1 |
G |
C |
14: 104,717,624 (GRCm39) |
L250V |
probably damaging |
Het |
| Or11h6 |
G |
T |
14: 50,880,460 (GRCm39) |
V241L |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,315 (GRCm39) |
R229H |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,458 (GRCm39) |
I13V |
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,363,245 (GRCm39) |
Y289* |
probably null |
Het |
| Or8k27 |
T |
C |
2: 86,276,282 (GRCm39) |
M15V |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,724 (GRCm39) |
Y149* |
probably null |
Het |
| Pabpc2 |
A |
C |
18: 39,908,187 (GRCm39) |
Q484P |
probably benign |
Het |
| Pbld2 |
T |
A |
10: 62,903,298 (GRCm39) |
V125D |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,399,184 (GRCm39) |
T2083A |
possibly damaging |
Het |
| Pum2 |
A |
G |
12: 8,794,465 (GRCm39) |
E785G |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,607,656 (GRCm39) |
|
probably benign |
Het |
| R3hcc1l |
A |
G |
19: 42,564,514 (GRCm39) |
D29G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,791,318 (GRCm39) |
Y180* |
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,109,002 (GRCm39) |
S140G |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
T |
A |
7: 5,118,292 (GRCm39) |
I93L |
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,581,771 (GRCm39) |
G4798D |
probably damaging |
Het |
| Scaf11 |
G |
A |
15: 96,317,324 (GRCm39) |
P747S |
probably damaging |
Het |
| Sgo2b |
T |
G |
8: 64,380,816 (GRCm39) |
K672T |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,765,645 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Ssh3 |
G |
T |
19: 4,314,019 (GRCm39) |
H439Q |
probably damaging |
Het |
| Steap3 |
T |
A |
1: 120,155,547 (GRCm39) |
T471S |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,920,725 (GRCm39) |
I208L |
probably damaging |
Het |
| Sucnr1 |
A |
G |
3: 59,994,081 (GRCm39) |
Y203C |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,598,926 (GRCm39) |
I304T |
possibly damaging |
Het |
| Top2a |
A |
T |
11: 98,902,974 (GRCm39) |
C404* |
probably null |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,809,069 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,466,133 (GRCm39) |
H2097L |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,831 (GRCm39) |
K156E |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,630,386 (GRCm39) |
K1413E |
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 |
|
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'- AGTTTCACAGCCACTTCTGAGCG -3'
(R):5'- GCTGAGCATTCTGCACATGTTGG -3'
Sequencing Primer
(F):5'- ATTGTGGCCTCACAGTCTTC -3'
(R):5'- GGATGTATACTGTGTCCAGTCAACC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation