Incidental Mutation 'R2136:Resf1'
ID |
235813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Resf1
|
Ensembl Gene |
ENSMUSG00000032712 |
Gene Name |
retroelement silencing factor 1 |
Synonyms |
2810474O19Rik, GET |
MMRRC Submission |
040139-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2136 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 149230320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 1122
(I1122K)
|
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: I1122K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000041180 Gene: ENSMUSG00000032712 AA Change: I1122K
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: I1122K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000098328 Gene: ENSMUSG00000032712 AA Change: I1122K
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: I1122K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139660 Gene: ENSMUSG00000032712 AA Change: I1122K
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: I1122K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000140026 Gene: ENSMUSG00000032712 AA Change: I1122K
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
AA Change: I1122K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000139624 Gene: ENSMUSG00000032712 AA Change: I1122K
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
G |
16: 19,702,530 (GRCm39) |
|
noncoding transcript |
Het |
Abca5 |
T |
C |
11: 110,210,658 (GRCm39) |
T174A |
probably benign |
Het |
Abcg3 |
G |
A |
5: 105,114,680 (GRCm39) |
S279L |
probably benign |
Het |
Acap3 |
T |
C |
4: 155,981,369 (GRCm39) |
L85P |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,660,101 (GRCm39) |
K290R |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,780,674 (GRCm39) |
T1909A |
probably benign |
Het |
Asap1 |
T |
C |
15: 63,982,808 (GRCm39) |
D832G |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,795,552 (GRCm39) |
L702Q |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,990,430 (GRCm39) |
V1774A |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,903,248 (GRCm39) |
E48G |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,805,493 (GRCm39) |
|
probably null |
Het |
Cfap65 |
C |
CA |
1: 74,956,432 (GRCm39) |
|
probably null |
Het |
Cln3 |
A |
C |
7: 126,181,971 (GRCm39) |
S30R |
probably benign |
Het |
Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
Crb1 |
A |
T |
1: 139,265,163 (GRCm39) |
V85E |
probably benign |
Het |
Crocc |
G |
A |
4: 140,760,265 (GRCm39) |
R789W |
probably damaging |
Het |
Cwh43 |
A |
G |
5: 73,572,397 (GRCm39) |
I212V |
probably benign |
Het |
Cyp2t4 |
C |
A |
7: 26,857,585 (GRCm39) |
F391L |
probably benign |
Het |
Dhx35 |
G |
T |
2: 158,673,781 (GRCm39) |
R404L |
probably damaging |
Het |
Disp1 |
A |
G |
1: 182,869,942 (GRCm39) |
L826S |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,524,648 (GRCm39) |
Y1393N |
unknown |
Het |
Fap |
C |
T |
2: 62,354,551 (GRCm39) |
G446D |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 16,288,347 (GRCm39) |
I392T |
probably benign |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Glipr1l1 |
T |
C |
10: 111,896,381 (GRCm39) |
V56A |
probably damaging |
Het |
Grsf1 |
A |
G |
5: 88,820,517 (GRCm39) |
V7A |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,509,410 (GRCm39) |
A3646V |
probably damaging |
Het |
Ipo9 |
A |
T |
1: 135,322,023 (GRCm39) |
I569N |
probably damaging |
Het |
Irs1 |
G |
T |
1: 82,267,763 (GRCm39) |
P151Q |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,128,094 (GRCm39) |
D491G |
possibly damaging |
Het |
Kctd7 |
T |
C |
5: 130,181,207 (GRCm39) |
L210P |
probably damaging |
Het |
Lifr |
C |
A |
15: 7,211,338 (GRCm39) |
D625E |
possibly damaging |
Het |
Lrguk |
T |
C |
6: 34,020,454 (GRCm39) |
V201A |
probably benign |
Het |
Mark1 |
A |
G |
1: 184,651,770 (GRCm39) |
V135A |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,870,722 (GRCm39) |
D70E |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,275,000 (GRCm39) |
Y434H |
probably damaging |
Het |
Myh10 |
C |
A |
11: 68,695,540 (GRCm39) |
Q1556K |
probably damaging |
Het |
Nav1 |
G |
A |
1: 135,382,174 (GRCm39) |
T1400I |
probably null |
Het |
Or1j11 |
A |
G |
2: 36,311,950 (GRCm39) |
D180G |
probably damaging |
Het |
Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
Or4b13 |
A |
C |
2: 90,082,597 (GRCm39) |
V245G |
probably damaging |
Het |
Or4f4b |
T |
C |
2: 111,313,961 (GRCm39) |
V62A |
probably damaging |
Het |
Or4p7 |
T |
A |
2: 88,221,663 (GRCm39) |
I24N |
probably benign |
Het |
Or5d43 |
T |
C |
2: 88,104,584 (GRCm39) |
K270E |
probably damaging |
Het |
Or5e1 |
G |
A |
7: 108,354,430 (GRCm39) |
M122I |
possibly damaging |
Het |
Osmr |
T |
A |
15: 6,881,943 (GRCm39) |
Q67L |
probably damaging |
Het |
Pan2 |
T |
G |
10: 128,149,506 (GRCm39) |
V522G |
possibly damaging |
Het |
Pard3 |
T |
G |
8: 128,103,366 (GRCm39) |
|
probably null |
Het |
Pcdhgc5 |
G |
T |
18: 37,953,166 (GRCm39) |
A147S |
possibly damaging |
Het |
Pcsk9 |
T |
C |
4: 106,303,967 (GRCm39) |
I506V |
probably benign |
Het |
Polr3d |
GCCCCC |
GCCCC |
14: 70,680,487 (GRCm39) |
|
probably null |
Het |
Prdm4 |
G |
A |
10: 85,729,215 (GRCm39) |
R731* |
probably null |
Het |
Prdx6b |
T |
A |
2: 80,123,507 (GRCm39) |
D105E |
probably damaging |
Het |
Prss3b |
A |
G |
6: 41,012,396 (GRCm39) |
F6S |
probably benign |
Het |
Rab42 |
A |
G |
4: 132,029,790 (GRCm39) |
L144P |
probably damaging |
Het |
Ralbp1 |
T |
A |
17: 66,171,661 (GRCm39) |
K104M |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,881,038 (GRCm39) |
V131A |
probably damaging |
Het |
Sbno1 |
C |
T |
5: 124,525,597 (GRCm39) |
|
probably null |
Het |
Sbno2 |
A |
T |
10: 79,898,527 (GRCm39) |
I645N |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,367,028 (GRCm39) |
K624R |
probably benign |
Het |
Sgk2 |
C |
A |
2: 162,841,099 (GRCm39) |
|
probably null |
Het |
Sirt4 |
A |
G |
5: 115,617,760 (GRCm39) |
S299P |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,321,473 (GRCm39) |
S1322P |
possibly damaging |
Het |
Slit2 |
C |
T |
5: 48,461,567 (GRCm39) |
A1521V |
probably benign |
Het |
Socs7 |
T |
G |
11: 97,263,933 (GRCm39) |
V275G |
possibly damaging |
Het |
Spink11 |
G |
A |
18: 44,323,554 (GRCm39) |
P102S |
probably benign |
Het |
Tacc3 |
A |
G |
5: 33,828,748 (GRCm39) |
N534D |
probably damaging |
Het |
Tas2r115 |
T |
C |
6: 132,714,309 (GRCm39) |
Y214C |
probably damaging |
Het |
Tcaf1 |
A |
T |
6: 42,650,454 (GRCm39) |
M875K |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,479,869 (GRCm39) |
L41Q |
possibly damaging |
Het |
Vasn |
T |
A |
16: 4,467,659 (GRCm39) |
C535* |
probably null |
Het |
Vcan |
T |
A |
13: 89,837,856 (GRCm39) |
I2563F |
probably damaging |
Het |
Vmn2r63 |
T |
G |
7: 42,576,297 (GRCm39) |
Q505H |
probably damaging |
Het |
Vmn2r65 |
T |
G |
7: 84,592,781 (GRCm39) |
Q475H |
probably damaging |
Het |
Zbtb43 |
T |
C |
2: 33,344,532 (GRCm39) |
Y231C |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,266 (GRCm39) |
V931A |
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 |
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'- CATGATACCTCACTGAAAATGGAGC -3'
(R):5'- ACAATTTGAGTGTGTCTCCAGC -3'
Sequencing Primer
(F):5'- TACCTCACTGAAAATGGAGCAAAAAC -3'
(R):5'- AGTGTGTCTCCAGCATTTTTG -3'
|
Posted On |
2014-10-01 |