Incidental Mutation 'R4912:Resf1'
| ID |
379625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
042514-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4912 (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 G
at 149230887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 1311
(S1311C)
|
| 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 damaging
Transcript: ENSMUST00000046689
AA Change: S1311C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: S1311C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100765
AA Change: S1311C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: S1311C
| 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 damaging
Transcript: ENSMUST00000189837
AA Change: S1311C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: S1311C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189932
AA Change: S1311C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: S1311C
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,505 (GRCm39) |
D52G |
possibly damaging |
Het |
| Acaa1a |
C |
A |
9: 119,171,827 (GRCm39) |
R102S |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,904,361 (GRCm39) |
R706* |
probably null |
Het |
| Best3 |
A |
G |
10: 116,844,886 (GRCm39) |
Y347C |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,872,900 (GRCm39) |
D386E |
probably damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,144 (GRCm39) |
T66S |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,760,858 (GRCm39) |
D2201V |
possibly damaging |
Het |
| Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
| Dffb |
T |
A |
4: 154,049,864 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
A |
C |
14: 87,244,635 (GRCm39) |
C217W |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,927,924 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
T |
C |
1: 44,196,217 (GRCm39) |
I70T |
probably damaging |
Het |
| Fryl |
AGTGTGT |
AGTGT |
5: 73,226,125 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
C |
T |
17: 56,298,241 (GRCm39) |
P189S |
possibly damaging |
Het |
| Gm42669 |
A |
G |
5: 107,656,683 (GRCm39) |
K982R |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,533,445 (GRCm39) |
I373T |
possibly damaging |
Het |
| Gm7356 |
A |
G |
17: 14,221,498 (GRCm39) |
L177P |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,767,153 (GRCm39) |
D93N |
probably damaging |
Het |
| Hbq1b |
T |
A |
11: 32,237,014 (GRCm39) |
M1K |
probably null |
Het |
| Hps3 |
C |
A |
3: 20,068,337 (GRCm39) |
L572F |
probably damaging |
Het |
| Ighj2 |
T |
A |
12: 113,393,100 (GRCm39) |
|
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,945,207 (GRCm39) |
M490T |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,796,597 (GRCm39) |
K404* |
probably null |
Het |
| Lgr4 |
A |
T |
2: 109,836,847 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
G |
T |
7: 27,005,541 (GRCm39) |
C1533* |
probably null |
Het |
| Mapre2 |
A |
G |
18: 23,965,990 (GRCm39) |
N25S |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,559,087 (GRCm39) |
I43K |
probably benign |
Het |
| Mon1b |
T |
A |
8: 114,368,585 (GRCm39) |
Y495* |
probably null |
Het |
| Mrfap1 |
A |
G |
5: 36,954,089 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
A |
G |
4: 155,925,361 (GRCm39) |
|
probably null |
Het |
| Myoz1 |
A |
T |
14: 20,699,606 (GRCm39) |
L244Q |
probably damaging |
Het |
| Ndfip2 |
C |
T |
14: 105,496,120 (GRCm39) |
R5W |
probably benign |
Het |
| Nek11 |
T |
C |
9: 105,164,857 (GRCm39) |
D423G |
probably benign |
Het |
| Nin |
A |
T |
12: 70,090,837 (GRCm39) |
D859E |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 90,994,511 (GRCm39) |
A1729V |
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,895,589 (GRCm39) |
E157G |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,856,166 (GRCm39) |
H244L |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,429 (GRCm39) |
S800P |
probably benign |
Het |
| Reln |
A |
G |
5: 22,130,191 (GRCm39) |
S2707P |
probably benign |
Het |
| Rexo4 |
G |
A |
2: 26,852,404 (GRCm39) |
T200M |
possibly damaging |
Het |
| Saxo2 |
T |
A |
7: 82,283,743 (GRCm39) |
I372L |
probably benign |
Het |
| Scgb2b2 |
T |
A |
7: 31,003,056 (GRCm39) |
D50E |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,443,452 (GRCm39) |
L914P |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,199,413 (GRCm39) |
D656V |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,300,171 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tdrd6 |
A |
C |
17: 43,935,218 (GRCm39) |
D1943E |
probably benign |
Het |
| Tmem163 |
G |
A |
1: 127,419,362 (GRCm39) |
T281M |
probably damaging |
Het |
| Tmod3 |
A |
G |
9: 75,439,730 (GRCm39) |
V35A |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,867,951 (GRCm39) |
Q448L |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,935,455 (GRCm39) |
S937T |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,481,304 (GRCm39) |
D1711V |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Utp20 |
G |
T |
10: 88,607,822 (GRCm39) |
Q1596K |
probably benign |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,525 (GRCm39) |
I123F |
possibly damaging |
Het |
| Vmn1r73 |
T |
A |
7: 11,490,596 (GRCm39) |
V138E |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,363 (GRCm39) |
D347G |
probably damaging |
Het |
| Vmn2r3 |
T |
G |
3: 64,166,618 (GRCm39) |
T838P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,082,896 (GRCm39) |
D1268G |
probably damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,739 (GRCm39) |
H443Q |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,079,663 (GRCm39) |
V374A |
probably damaging |
Het |
| Zfp831 |
G |
T |
2: 174,486,417 (GRCm39) |
G364V |
probably damaging |
Het |
| Zfp94 |
A |
G |
7: 24,003,166 (GRCm39) |
V86A |
probably benign |
Het |
| Zkscan16 |
A |
C |
4: 58,946,506 (GRCm39) |
N127T |
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 |
|
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 |
|
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'- TGTGCATTTAAACGCAACTCG -3'
Sequencing Primer
(F):5'- GCTTCCAGAAACATCTGTGTAG -3'
(R):5'- CGCAACTCGATTCAAGTACTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation