Incidental Mutation 'R7168:Resf1'
| ID |
558050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
045263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 149229341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 796
(F796V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041180
(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: F796V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: F796V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: F796V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: F796V
| 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: F796V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: F796V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: F796V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: F796V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
AA Change: F796V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: F796V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,262,831 (GRCm39) |
D1388V |
probably damaging |
Het |
| 2900026A02Rik |
C |
A |
5: 113,285,659 (GRCm39) |
R65L |
probably damaging |
Het |
| Abcb10 |
A |
T |
8: 124,693,350 (GRCm39) |
L318Q |
|
Het |
| Abhd18 |
T |
A |
3: 40,889,371 (GRCm39) |
V417D |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,743,769 (GRCm39) |
K99E |
probably benign |
Het |
| Adam2 |
A |
T |
14: 66,296,241 (GRCm39) |
I206N |
possibly damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,545,328 (GRCm39) |
S5652R |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,579,426 (GRCm39) |
T221M |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,893,831 (GRCm39) |
M854K |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,027,155 (GRCm39) |
T375S |
possibly damaging |
Het |
| Apip |
T |
A |
2: 102,922,813 (GRCm39) |
C210* |
probably null |
Het |
| Arid3b |
A |
T |
9: 57,712,818 (GRCm39) |
D232E |
probably benign |
Het |
| Asic5 |
G |
A |
3: 81,919,282 (GRCm39) |
C342Y |
probably damaging |
Het |
| BC035947 |
T |
C |
1: 78,476,230 (GRCm39) |
M101V |
probably benign |
Het |
| Brd3 |
G |
A |
2: 27,344,411 (GRCm39) |
R440C |
possibly damaging |
Het |
| Deaf1 |
C |
T |
7: 140,904,509 (GRCm39) |
|
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,858,610 (GRCm39) |
T300A |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,788,529 (GRCm39) |
I519F |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,808 (GRCm39) |
F2820S |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,925,971 (GRCm39) |
I132T |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,885,090 (GRCm39) |
V810A |
probably damaging |
Het |
| Gm14403 |
A |
C |
2: 177,201,318 (GRCm39) |
Q179P |
probably damaging |
Het |
| Gm3127 |
A |
G |
14: 15,432,250 (GRCm39) |
M251V |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,561,114 (GRCm39) |
S298P |
probably benign |
Het |
| Impact |
T |
A |
18: 13,119,370 (GRCm39) |
|
probably null |
Het |
| Itgal |
T |
C |
7: 126,929,385 (GRCm39) |
F1101L |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,656,064 (GRCm39) |
R579Q |
probably null |
Het |
| Kansl2 |
T |
C |
15: 98,427,425 (GRCm39) |
|
probably null |
Het |
| Kng1 |
A |
G |
16: 22,898,391 (GRCm39) |
D597G |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,836,332 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,242,148 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
G |
T |
17: 75,598,361 (GRCm39) |
C614F |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,810 (GRCm39) |
E168G |
unknown |
Het |
| Lvrn |
A |
C |
18: 47,014,389 (GRCm39) |
K525T |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,719,184 (GRCm39) |
R2249H |
probably damaging |
Het |
| Mmp16 |
G |
T |
4: 18,110,550 (GRCm39) |
G449C |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,785,392 (GRCm39) |
V350A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,417,754 (GRCm39) |
M3567V |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,748,513 (GRCm39) |
L361Q |
probably damaging |
Het |
| Myom1 |
T |
A |
17: 71,396,942 (GRCm39) |
S1063R |
probably benign |
Het |
| Notch4 |
A |
C |
17: 34,791,667 (GRCm39) |
H582P |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,964,837 (GRCm39) |
C1474S |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,048 (GRCm39) |
I231N |
probably damaging |
Het |
| Or4g17 |
A |
T |
2: 111,210,224 (GRCm39) |
D293V |
probably damaging |
Het |
| Or5d36 |
A |
C |
2: 87,900,921 (GRCm39) |
N268K |
probably benign |
Het |
| Or8b40 |
G |
T |
9: 38,027,959 (GRCm39) |
S294I |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,513,946 (GRCm39) |
V241D |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,736,622 (GRCm39) |
N654K |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,607,446 (GRCm39) |
G121D |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,659,874 (GRCm39) |
S1260P |
probably benign |
Het |
| Pwp1 |
G |
T |
10: 85,720,401 (GRCm39) |
R346I |
probably damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,144,232 (GRCm39) |
T800I |
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
| Slc1a3 |
G |
T |
15: 8,675,386 (GRCm39) |
N206K |
possibly damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,719,591 (GRCm39) |
V540A |
probably benign |
Het |
| Sntb1 |
G |
A |
15: 55,654,661 (GRCm39) |
P265S |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,753 (GRCm39) |
E437G |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,343,674 (GRCm39) |
V56E |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,087,276 (GRCm39) |
T55S |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,859,404 (GRCm39) |
V206G |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,918,445 (GRCm39) |
N1479S |
probably benign |
Het |
| Trpv2 |
T |
A |
11: 62,473,914 (GRCm39) |
C190S |
probably benign |
Het |
| Umod |
A |
T |
7: 119,077,549 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,414,585 (GRCm39) |
Y2862N |
|
Het |
| Vmn1r158 |
A |
G |
7: 22,490,101 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zfp420 |
A |
G |
7: 29,574,791 (GRCm39) |
Y337C |
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 |
|
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 |
|
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'- ACAGTGTACAGATGTTCCTCATG -3'
(R):5'- CAGACACATTACTAGTTTTACCACCAG -3'
Sequencing Primer
(F):5'- TCATGAGGTCCCTGAGCAG -3'
(R):5'- TTACCACCAGTTTGATTTTCTACG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation