Incidental Mutation 'R5382:Resf1'
ID |
424783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Resf1
|
Ensembl Gene |
ENSMUSG00000032712 |
Gene Name |
retroelement silencing factor 1 |
Synonyms |
2810474O19Rik, GET |
MMRRC Submission |
042957-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5382 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 149227958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 335
(E335*)
|
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 null
Transcript: ENSMUST00000046689
AA Change: E335*
|
SMART Domains |
Protein: ENSMUSP00000041180 Gene: ENSMUSG00000032712 AA Change: E335*
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100765
AA Change: E335*
|
SMART Domains |
Protein: ENSMUSP00000098328 Gene: ENSMUSG00000032712 AA Change: E335*
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
|
Predicted Effect |
probably null
Transcript: ENSMUST00000130664
AA Change: E335*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189837
AA Change: E335*
|
SMART Domains |
Protein: ENSMUSP00000139660 Gene: ENSMUSG00000032712 AA Change: E335*
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189932
AA Change: E335*
|
SMART Domains |
Protein: ENSMUSP00000140026 Gene: ENSMUSG00000032712 AA Change: E335*
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000190785
AA Change: E335*
|
SMART Domains |
Protein: ENSMUSP00000139624 Gene: ENSMUSG00000032712 AA Change: E335*
Domain | Start | End | E-Value | Type |
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
G |
A |
7: 28,314,844 (GRCm39) |
P250S |
possibly damaging |
Het |
Actn2 |
T |
A |
13: 12,323,837 (GRCm39) |
M133L |
probably benign |
Het |
Arhgap32 |
A |
T |
9: 32,063,306 (GRCm39) |
K105M |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,101,349 (GRCm39) |
V305A |
probably benign |
Het |
Brd1 |
G |
A |
15: 88,613,767 (GRCm39) |
T376M |
probably damaging |
Het |
Cbl |
C |
T |
9: 44,070,318 (GRCm39) |
A505T |
probably benign |
Het |
Cga |
G |
T |
4: 34,904,048 (GRCm39) |
M14I |
probably benign |
Het |
Ciao3 |
A |
G |
17: 25,995,894 (GRCm39) |
|
probably benign |
Het |
Cluh |
T |
C |
11: 74,555,935 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,225,832 (GRCm39) |
D165V |
unknown |
Het |
Cp |
T |
C |
3: 20,033,089 (GRCm39) |
W639R |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,151,385 (GRCm39) |
D276V |
possibly damaging |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
T |
4: 58,850,934 (GRCm39) |
M413K |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,738,233 (GRCm39) |
M509L |
probably benign |
Het |
Evi5l |
A |
G |
8: 4,228,653 (GRCm39) |
|
probably benign |
Het |
Exoc6 |
T |
C |
19: 37,587,127 (GRCm39) |
|
probably null |
Het |
Gm38706 |
C |
T |
6: 130,460,744 (GRCm39) |
|
noncoding transcript |
Het |
Gpr183 |
T |
C |
14: 122,192,333 (GRCm39) |
T63A |
possibly damaging |
Het |
Gpr63 |
T |
A |
4: 25,007,952 (GRCm39) |
D225E |
probably benign |
Het |
Grb14 |
T |
A |
2: 64,745,078 (GRCm39) |
K93N |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kif28 |
C |
T |
1: 179,527,847 (GRCm39) |
G768D |
probably damaging |
Het |
Krt79 |
A |
T |
15: 101,839,875 (GRCm39) |
D373E |
probably benign |
Het |
Mro |
G |
A |
18: 74,009,893 (GRCm39) |
S187N |
probably benign |
Het |
Ms4a14 |
G |
T |
19: 11,280,421 (GRCm39) |
D712E |
possibly damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,490,893 (GRCm39) |
T56A |
possibly damaging |
Het |
Nell2 |
A |
T |
15: 95,127,091 (GRCm39) |
D761E |
probably damaging |
Het |
Numb |
A |
G |
12: 83,854,979 (GRCm39) |
F116L |
probably damaging |
Het |
Or3a1 |
T |
A |
11: 74,225,806 (GRCm39) |
M84L |
probably benign |
Het |
Or4c114 |
A |
G |
2: 88,905,079 (GRCm39) |
Y119H |
probably damaging |
Het |
Or5an11 |
A |
T |
19: 12,245,773 (GRCm39) |
M60L |
possibly damaging |
Het |
Or6c66 |
T |
A |
10: 129,461,876 (GRCm39) |
D18V |
probably damaging |
Het |
Or8k27 |
A |
G |
2: 86,275,660 (GRCm39) |
L222P |
probably damaging |
Het |
Or9g20 |
T |
C |
2: 85,630,492 (GRCm39) |
N41D |
probably damaging |
Het |
Otog |
A |
C |
7: 45,898,428 (GRCm39) |
N182T |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Padi6 |
A |
T |
4: 140,458,521 (GRCm39) |
V457E |
probably damaging |
Het |
Pex16 |
G |
A |
2: 92,207,875 (GRCm39) |
R109H |
possibly damaging |
Het |
Phactr1 |
T |
C |
13: 43,288,695 (GRCm39) |
|
probably benign |
Het |
Phf20 |
G |
A |
2: 156,109,417 (GRCm39) |
E255K |
probably damaging |
Het |
Pim1 |
A |
G |
17: 29,710,457 (GRCm39) |
|
probably benign |
Het |
Prr23a2 |
T |
A |
9: 98,739,229 (GRCm39) |
Y196N |
probably damaging |
Het |
Prune2 |
A |
T |
19: 16,981,023 (GRCm39) |
N60I |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,189,776 (GRCm39) |
Y1812N |
probably damaging |
Het |
Rab11fip4 |
A |
G |
11: 79,581,541 (GRCm39) |
Y512C |
possibly damaging |
Het |
Rft1 |
T |
C |
14: 30,388,739 (GRCm39) |
V221A |
probably benign |
Het |
Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
Tgfbrap1 |
A |
G |
1: 43,115,025 (GRCm39) |
I25T |
probably benign |
Het |
Th |
A |
G |
7: 142,449,177 (GRCm39) |
F191S |
probably damaging |
Het |
Trim3 |
C |
A |
7: 105,267,554 (GRCm39) |
R275L |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,862,705 (GRCm39) |
|
probably null |
Het |
Wars1 |
A |
T |
12: 108,848,706 (GRCm39) |
D80E |
probably benign |
Het |
Wdr90 |
T |
A |
17: 26,064,572 (GRCm39) |
Y1806F |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,782,735 (GRCm39) |
I1182N |
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 |
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 |
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'- GCCCTTCCTTACAGCTGTAG -3'
(R):5'- TTTACTACAACCAGCTGCCATC -3'
Sequencing Primer
(F):5'- CCTTACAGCTGTAGATATGAAAACC -3'
(R):5'- ACTAGAGATTTAATATCCCTCACCAG -3'
|
Posted On |
2016-08-04 |