Incidental Mutation 'R0053:Resf1'
| ID |
64324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
038347-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0053 (G1)
|
| Quality Score |
92 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 149229088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 711
(D711E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139624
(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: D711E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: D711E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: D711E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: D711E
| 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 benign
Transcript: ENSMUST00000189837
AA Change: D711E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: D711E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: D711E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: D711E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
AA Change: D711E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: D711E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
A |
T |
2: 163,574,212 (GRCm39) |
V148D |
probably damaging |
Het |
| Alpi |
T |
C |
1: 87,026,512 (GRCm39) |
D493G |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,710,712 (GRCm39) |
T205I |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,322,318 (GRCm39) |
I413V |
possibly damaging |
Het |
| Cblb |
C |
T |
16: 51,963,164 (GRCm39) |
T369I |
probably damaging |
Het |
| Ccdc54 |
T |
A |
16: 50,410,597 (GRCm39) |
N223I |
probably benign |
Het |
| Cdc25c |
A |
G |
18: 34,868,488 (GRCm39) |
V294A |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,609,946 (GRCm39) |
S122T |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,967,451 (GRCm39) |
N849D |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,505,023 (GRCm39) |
W2051R |
probably benign |
Het |
| Dpp3 |
A |
G |
19: 4,973,154 (GRCm39) |
C147R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
| Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
| Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Gramd4 |
T |
A |
15: 86,014,339 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Inava |
C |
T |
1: 136,155,288 (GRCm39) |
V106I |
probably benign |
Het |
| Insr |
A |
G |
8: 3,205,683 (GRCm39) |
S1369P |
probably damaging |
Het |
| Insrr |
A |
C |
3: 87,707,759 (GRCm39) |
D67A |
probably damaging |
Het |
| Irf2 |
T |
A |
8: 47,271,886 (GRCm39) |
Y158N |
probably benign |
Het |
| Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
| Lzts2 |
T |
C |
19: 45,014,746 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,402,562 (GRCm39) |
Y258H |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,845 (GRCm39) |
D52G |
probably benign |
Het |
| Or4c100 |
T |
A |
2: 88,356,507 (GRCm39) |
N193K |
probably damaging |
Het |
| Parp10 |
T |
A |
15: 76,126,446 (GRCm39) |
L247F |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 65,633,451 (GRCm39) |
|
probably benign |
Het |
| Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,377,993 (GRCm39) |
Y373C |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,136,835 (GRCm39) |
E310G |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,586,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,441,206 (GRCm39) |
D220V |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,351,105 (GRCm39) |
F533I |
probably damaging |
Het |
| Rufy1 |
A |
T |
11: 50,292,292 (GRCm39) |
M499K |
probably benign |
Het |
| Scn1a |
T |
G |
2: 66,130,119 (GRCm39) |
D1232A |
probably benign |
Het |
| Sec23ip |
T |
C |
7: 128,346,891 (GRCm39) |
L49P |
probably damaging |
Het |
| Sf3b1 |
G |
A |
1: 55,039,532 (GRCm39) |
Q698* |
probably null |
Het |
| Shprh |
A |
T |
10: 11,070,116 (GRCm39) |
|
probably null |
Het |
| Snd1 |
C |
A |
6: 28,745,334 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,644 (GRCm39) |
A2260T |
possibly damaging |
Het |
| Stpg2 |
A |
G |
3: 138,918,082 (GRCm39) |
Q60R |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,363 (GRCm39) |
H687R |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,124,603 (GRCm39) |
I35N |
probably damaging |
Het |
| Tnks2 |
T |
C |
19: 36,852,765 (GRCm39) |
S166P |
probably damaging |
Het |
| Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
| Usp19 |
A |
G |
9: 108,374,369 (GRCm39) |
|
probably null |
Het |
| Zfp13 |
A |
T |
17: 23,795,122 (GRCm39) |
I483N |
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 |
|
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 |
|
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'- GGATAGCACCATTGTGAGTGGACC -3'
(R):5'- ACATATCAGTTTCCCGAGGGTGAGG -3'
Sequencing Primer
(F):5'- GTGAGTGGACCTATGTTACAAATCG -3'
(R):5'- AACATACATCCTTAGCTGTACTTTC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation