Incidental Mutation 'R6160:Resf1'
ID |
489804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Resf1
|
Ensembl Gene |
ENSMUSG00000032712 |
Gene Name |
retroelement silencing factor 1 |
Synonyms |
2810474O19Rik, GET |
MMRRC Submission |
044307-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6160 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 149233005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046689]
[ENSMUST00000100765]
[ENSMUST00000130664]
[ENSMUST00000189837]
[ENSMUST00000189932]
[ENSMUST00000190785]
|
AlphaFold |
Q5DTW7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046689
|
SMART Domains |
Protein: ENSMUSP00000041180 Gene: ENSMUSG00000032712
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100765
|
SMART Domains |
Protein: ENSMUSP00000098328 Gene: ENSMUSG00000032712
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130664
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189837
|
SMART Domains |
Protein: ENSMUSP00000139660 Gene: ENSMUSG00000032712
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189932
|
SMART Domains |
Protein: ENSMUSP00000140026 Gene: ENSMUSG00000032712
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 |
|
Meta Mutation Damage Score |
0.9598 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
94% (62/66) |
Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,642,950 (GRCm39) |
S297R |
possibly damaging |
Het |
5530400C23Rik |
A |
G |
6: 133,271,289 (GRCm39) |
E111G |
possibly damaging |
Het |
8030423J24Rik |
T |
A |
13: 71,032,029 (GRCm39) |
S34T |
unknown |
Het |
Ace3 |
T |
A |
11: 105,885,558 (GRCm39) |
W20R |
possibly damaging |
Het |
Adgrf1 |
A |
G |
17: 43,621,578 (GRCm39) |
E605G |
probably damaging |
Het |
Arhgap44 |
G |
A |
11: 65,053,375 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
C |
9: 53,402,259 (GRCm39) |
H1404Q |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,811,306 (GRCm39) |
E53G |
probably damaging |
Het |
Bhmt1b |
G |
A |
18: 87,775,245 (GRCm39) |
C256Y |
probably damaging |
Het |
Cdt1 |
C |
T |
8: 123,298,107 (GRCm39) |
T366I |
probably benign |
Het |
Cerk |
A |
T |
15: 86,026,974 (GRCm39) |
C179S |
probably benign |
Het |
Cldn10 |
T |
C |
14: 119,099,255 (GRCm39) |
V123A |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,751,604 (GRCm39) |
K726E |
possibly damaging |
Het |
Dcaf12 |
A |
T |
4: 41,294,043 (GRCm39) |
Y365N |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,073,024 (GRCm39) |
L171P |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,583,290 (GRCm39) |
V91I |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,972,387 (GRCm39) |
I1431V |
probably benign |
Het |
Egln1 |
T |
C |
8: 125,675,231 (GRCm39) |
D188G |
probably damaging |
Het |
Enpp5 |
T |
A |
17: 44,392,259 (GRCm39) |
N229K |
possibly damaging |
Het |
Fmo1 |
T |
G |
1: 162,663,867 (GRCm39) |
I221L |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,818,289 (GRCm39) |
W4674* |
probably null |
Het |
Gm12185 |
G |
A |
11: 48,799,255 (GRCm39) |
Q413* |
probably null |
Het |
Gm7298 |
A |
T |
6: 121,741,886 (GRCm39) |
H436L |
probably benign |
Het |
Gucy2c |
G |
A |
6: 136,717,684 (GRCm39) |
Q430* |
probably null |
Het |
Hgd |
A |
G |
16: 37,433,660 (GRCm39) |
H134R |
probably damaging |
Het |
Hoxd8 |
A |
G |
2: 74,536,343 (GRCm39) |
E151G |
probably damaging |
Het |
Il15ra |
A |
G |
2: 11,724,827 (GRCm39) |
D99G |
probably damaging |
Het |
Ints4 |
T |
A |
7: 97,158,790 (GRCm39) |
|
probably null |
Het |
Itgb1 |
T |
A |
8: 129,446,764 (GRCm39) |
F426L |
possibly damaging |
Het |
Itpr1 |
A |
C |
6: 108,495,716 (GRCm39) |
I2534L |
probably benign |
Het |
Kcnq4 |
T |
A |
4: 120,573,756 (GRCm39) |
H235L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,782,395 (GRCm39) |
I178N |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,047,310 (GRCm39) |
D252G |
probably damaging |
Het |
Krt23 |
A |
G |
11: 99,376,544 (GRCm39) |
I204T |
probably damaging |
Het |
Lipo4 |
A |
G |
19: 33,480,693 (GRCm39) |
L225P |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,903,548 (GRCm39) |
D245G |
possibly damaging |
Het |
Mmp16 |
A |
G |
4: 18,051,857 (GRCm39) |
D282G |
probably damaging |
Het |
Myo1c |
A |
T |
11: 75,541,568 (GRCm39) |
H18L |
probably benign |
Het |
Myo1f |
C |
A |
17: 33,823,318 (GRCm39) |
P981Q |
probably benign |
Het |
Nle1 |
A |
T |
11: 82,798,983 (GRCm39) |
F33I |
probably benign |
Het |
Nlrp4e |
T |
G |
7: 23,020,731 (GRCm39) |
M406R |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,942,611 (GRCm39) |
V4857E |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,727,643 (GRCm39) |
|
probably null |
Het |
Phospho1 |
A |
T |
11: 95,721,450 (GRCm39) |
E22V |
probably damaging |
Het |
Pom121l2 |
C |
T |
13: 22,167,838 (GRCm39) |
S703L |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,064,075 (GRCm39) |
L20P |
probably damaging |
Het |
Psmb7 |
T |
C |
2: 38,533,393 (GRCm39) |
T45A |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,320,376 (GRCm39) |
I532T |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,222,362 (GRCm39) |
D208G |
probably damaging |
Het |
Recql5 |
A |
G |
11: 115,823,613 (GRCm39) |
|
probably null |
Het |
Rfc4 |
A |
T |
16: 22,933,433 (GRCm39) |
I242N |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,503,235 (GRCm39) |
Y650C |
probably damaging |
Het |
Shc2 |
C |
T |
10: 79,462,853 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,202,190 (GRCm39) |
|
probably null |
Het |
Slc6a6 |
A |
T |
6: 91,716,995 (GRCm39) |
|
probably null |
Het |
Synj2 |
C |
A |
17: 6,058,336 (GRCm39) |
H275N |
possibly damaging |
Het |
T |
A |
T |
17: 8,660,618 (GRCm39) |
T410S |
probably benign |
Het |
Tars3 |
A |
G |
7: 65,332,527 (GRCm39) |
I543V |
probably benign |
Het |
Tbc1d8 |
T |
A |
1: 39,411,484 (GRCm39) |
K1117N |
probably damaging |
Het |
Tm7sf3 |
A |
T |
6: 146,507,787 (GRCm39) |
L425* |
probably null |
Het |
Trav14-3 |
A |
G |
14: 54,000,978 (GRCm39) |
Y63C |
probably damaging |
Het |
Tyro3 |
A |
C |
2: 119,633,751 (GRCm39) |
D133A |
probably damaging |
Het |
Vmn1r119 |
T |
G |
7: 20,745,740 (GRCm39) |
H214P |
possibly damaging |
Het |
Vmn2r120 |
G |
A |
17: 57,816,418 (GRCm39) |
P646S |
probably benign |
Het |
Zbtb7c |
A |
T |
18: 76,278,904 (GRCm39) |
Y454F |
probably benign |
Het |
Zmym2 |
T |
C |
14: 57,187,766 (GRCm39) |
L1144P |
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 |
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'- GATTTCCAAGCCCCTTAAAGTTTG -3'
(R):5'- GAACTAGATCCTGGCTTCCTGC -3'
Sequencing Primer
(F):5'- CCAAGCCCCTTAAAGTTTGTATTATC -3'
(R):5'- CAGGCGAATTTCTGAGTCAGC -3'
|
Posted On |
2017-10-10 |