Incidental Mutation 'R1926:Resf1'
ID |
213435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Resf1
|
Ensembl Gene |
ENSMUSG00000032712 |
Gene Name |
retroelement silencing factor 1 |
Synonyms |
2810474O19Rik, GET |
MMRRC Submission |
039944-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1926 (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 T
at 149230902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1316
(T1316I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140026
(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: T1316I
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041180 Gene: ENSMUSG00000032712 AA Change: T1316I
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: T1316I
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000098328 Gene: ENSMUSG00000032712 AA Change: T1316I
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: T1316I
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139660 Gene: ENSMUSG00000032712 AA Change: T1316I
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: T1316I
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140026 Gene: ENSMUSG00000032712 AA Change: T1316I
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
|
SMART Domains |
Protein: ENSMUSP00000139624 Gene: ENSMUSG00000032712
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.0%
- 20x: 91.6%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
C |
T |
7: 119,376,359 (GRCm39) |
T362M |
probably damaging |
Het |
Ang6 |
A |
G |
14: 44,239,695 (GRCm39) |
V11A |
possibly damaging |
Het |
Ankrd17 |
A |
G |
5: 90,392,028 (GRCm39) |
Y1880H |
probably damaging |
Het |
Bmi1 |
A |
G |
2: 18,687,084 (GRCm39) |
I55V |
probably benign |
Het |
Bnipl |
G |
A |
3: 95,150,354 (GRCm39) |
T297M |
probably damaging |
Het |
Bpifa2 |
T |
C |
2: 153,855,669 (GRCm39) |
V198A |
probably benign |
Het |
Brms1l |
G |
T |
12: 55,909,946 (GRCm39) |
V239F |
possibly damaging |
Het |
Ccdc158 |
A |
G |
5: 92,798,647 (GRCm39) |
V351A |
probably benign |
Het |
Ces1c |
A |
G |
8: 93,854,232 (GRCm39) |
F101S |
possibly damaging |
Het |
Cpb2 |
T |
C |
14: 75,479,837 (GRCm39) |
Y15H |
probably benign |
Het |
Dglucy |
A |
T |
12: 100,833,414 (GRCm39) |
N535I |
possibly damaging |
Het |
Dop1a |
C |
A |
9: 86,405,072 (GRCm39) |
H1763Q |
probably damaging |
Het |
Dpy19l1 |
C |
T |
9: 24,385,120 (GRCm39) |
M236I |
probably benign |
Het |
Efna2 |
T |
C |
10: 80,022,710 (GRCm39) |
Y85H |
probably damaging |
Het |
Eipr1 |
A |
T |
12: 28,914,836 (GRCm39) |
|
probably null |
Het |
Eln |
A |
T |
5: 134,735,421 (GRCm39) |
Y787* |
probably null |
Het |
Erbb2 |
G |
C |
11: 98,315,990 (GRCm39) |
E364D |
probably benign |
Het |
F5 |
A |
G |
1: 164,007,077 (GRCm39) |
T294A |
probably damaging |
Het |
Fam47e |
A |
G |
5: 92,733,244 (GRCm39) |
T194A |
possibly damaging |
Het |
Galk1 |
T |
C |
11: 115,901,073 (GRCm39) |
D202G |
probably damaging |
Het |
Glb1l2 |
T |
C |
9: 26,682,362 (GRCm39) |
D163G |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,268,170 (GRCm39) |
E408G |
probably benign |
Het |
Gp1ba |
A |
T |
11: 70,531,715 (GRCm39) |
|
probably benign |
Het |
Grm3 |
A |
T |
5: 9,554,881 (GRCm39) |
C804S |
probably damaging |
Het |
Gzmd |
A |
G |
14: 56,367,737 (GRCm39) |
C179R |
probably damaging |
Het |
Hadhb |
T |
A |
5: 30,385,935 (GRCm39) |
L415Q |
possibly damaging |
Het |
Ift80 |
T |
C |
3: 68,823,498 (GRCm39) |
Y588C |
probably damaging |
Het |
Jazf1 |
T |
C |
6: 53,045,516 (GRCm39) |
T13A |
probably benign |
Het |
Kat8 |
T |
A |
7: 127,514,467 (GRCm39) |
Y67* |
probably null |
Het |
Kcnab1 |
G |
A |
3: 65,283,933 (GRCm39) |
E384K |
possibly damaging |
Het |
Lhx3 |
A |
T |
2: 26,092,200 (GRCm39) |
Y230* |
probably null |
Het |
Lmx1b |
T |
A |
2: 33,454,674 (GRCm39) |
M365L |
probably damaging |
Het |
Ly6k |
G |
T |
15: 74,669,051 (GRCm39) |
P76Q |
probably benign |
Het |
Lypd10 |
G |
A |
7: 24,413,541 (GRCm39) |
G186R |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,567,200 (GRCm39) |
H1840Q |
unknown |
Het |
Map3k2 |
A |
G |
18: 32,336,163 (GRCm39) |
I117V |
probably damaging |
Het |
Med13 |
C |
A |
11: 86,179,899 (GRCm39) |
A1350S |
possibly damaging |
Het |
Midn |
T |
C |
10: 79,987,495 (GRCm39) |
S109P |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,293,653 (GRCm39) |
T803A |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,337,182 (GRCm39) |
Y1018C |
probably damaging |
Het |
Ndufc1 |
A |
T |
3: 51,314,816 (GRCm39) |
N63K |
probably benign |
Het |
Neb |
A |
T |
2: 52,169,647 (GRCm39) |
S1811R |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,371,669 (GRCm39) |
D260G |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Oas1g |
T |
C |
5: 121,017,205 (GRCm39) |
K283R |
probably benign |
Het |
Obscn |
T |
C |
11: 58,954,300 (GRCm39) |
T4037A |
|
Het |
Or6b1 |
T |
G |
6: 42,815,247 (GRCm39) |
L144R |
probably damaging |
Het |
Or6b3 |
A |
G |
1: 92,439,330 (GRCm39) |
L140P |
probably damaging |
Het |
Otop2 |
A |
T |
11: 115,217,781 (GRCm39) |
T206S |
probably benign |
Het |
Pamr1 |
A |
G |
2: 102,471,342 (GRCm39) |
|
probably null |
Het |
Pkp1 |
G |
A |
1: 135,805,411 (GRCm39) |
T675I |
probably benign |
Het |
Plxna2 |
G |
A |
1: 194,444,758 (GRCm39) |
V717I |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,975,979 (GRCm39) |
L2P |
possibly damaging |
Het |
Rarg |
A |
G |
15: 102,147,980 (GRCm39) |
F277S |
probably damaging |
Het |
Rassf5 |
A |
T |
1: 131,140,076 (GRCm39) |
I161N |
probably damaging |
Het |
Rxfp4 |
A |
G |
3: 88,559,659 (GRCm39) |
V264A |
probably benign |
Het |
Secisbp2l |
T |
A |
2: 125,582,597 (GRCm39) |
Q953L |
probably damaging |
Het |
Serpinb9c |
T |
C |
13: 33,334,218 (GRCm39) |
I275V |
probably benign |
Het |
Slc2a12 |
T |
C |
10: 22,541,141 (GRCm39) |
V332A |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,285,113 (GRCm39) |
S127G |
probably damaging |
Het |
Slc7a4 |
A |
T |
16: 17,393,568 (GRCm39) |
V77E |
probably damaging |
Het |
Sp8 |
G |
A |
12: 118,812,964 (GRCm39) |
S273N |
possibly damaging |
Het |
Spag6l |
G |
T |
16: 16,580,921 (GRCm39) |
N475K |
probably benign |
Het |
St18 |
A |
G |
1: 6,872,913 (GRCm39) |
H216R |
probably benign |
Het |
Tcirg1 |
C |
T |
19: 3,952,843 (GRCm39) |
|
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,658,788 (GRCm39) |
Y87C |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,683,726 (GRCm39) |
V713A |
possibly damaging |
Het |
Tnrc6b |
G |
T |
15: 80,765,363 (GRCm39) |
R955L |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,727,012 (GRCm39) |
V1153A |
probably damaging |
Het |
Tshz3 |
T |
C |
7: 36,468,800 (GRCm39) |
L263S |
probably damaging |
Het |
Tubb6 |
G |
A |
18: 67,534,391 (GRCm39) |
|
probably null |
Het |
Ube3a |
T |
C |
7: 58,926,127 (GRCm39) |
W302R |
probably damaging |
Het |
Vcpkmt |
A |
T |
12: 69,629,519 (GRCm39) |
V81E |
probably damaging |
Het |
Vmn1r175 |
T |
A |
7: 23,508,466 (GRCm39) |
I54F |
possibly damaging |
Het |
Vwa8 |
T |
A |
14: 79,258,075 (GRCm39) |
N741K |
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,033,176 (GRCm39) |
T1034A |
probably benign |
Het |
Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
Zfp207 |
T |
A |
11: 80,286,253 (GRCm39) |
Y424* |
probably null |
Het |
Zfp729a |
A |
G |
13: 67,767,676 (GRCm39) |
V851A |
probably benign |
Het |
Zkscan1 |
G |
T |
5: 138,099,625 (GRCm39) |
A450S |
probably benign |
Het |
Zkscan3 |
A |
G |
13: 21,580,616 (GRCm39) |
V24A |
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 |
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'- GCAGGAATATTTACAACGGCAG -3'
(R):5'- TCCCGTTCTGTGCATTTAAACG -3'
Sequencing Primer
(F):5'- GCTTCCAGAAACATCTGTGTAG -3'
(R):5'- CTGTGCATTTAAACGCAACTCG -3'
|
Posted On |
2014-07-14 |