Incidental Mutation 'R9689:Resf1'
| ID |
729040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9689 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 149229766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 937
(C937*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041180
(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: C937*
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: C937*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100765
AA Change: C937*
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: C937*
| 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 null
Transcript: ENSMUST00000189837
AA Change: C937*
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: C937*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189932
AA Change: C937*
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: C937*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190785
AA Change: C937*
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: C937*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,942,780 (GRCm39) |
V1538E |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,631,253 (GRCm39) |
V1833A |
probably benign |
Het |
| Apc2 |
G |
A |
10: 80,150,733 (GRCm39) |
R1929Q |
probably damaging |
Het |
| Asb1 |
A |
G |
1: 91,474,708 (GRCm39) |
I85V |
probably damaging |
Het |
| Bco2 |
A |
T |
9: 50,445,938 (GRCm39) |
I486K |
probably damaging |
Het |
| Braf |
T |
A |
6: 39,591,084 (GRCm39) |
I792F |
probably damaging |
Het |
| Cacng2 |
T |
C |
15: 77,879,399 (GRCm39) |
K308E |
possibly damaging |
Het |
| Ccr6 |
G |
T |
17: 8,475,821 (GRCm39) |
R342L |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,108 (GRCm39) |
I802F |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,313,649 (GRCm39) |
I1291T |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,120,030 (GRCm39) |
D50E |
possibly damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,170 (GRCm39) |
Y448C |
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,072,178 (GRCm39) |
I477T |
probably damaging |
Het |
| Col18a1 |
G |
A |
10: 76,916,578 (GRCm39) |
Q366* |
probably null |
Het |
| Csf3 |
C |
A |
11: 98,592,949 (GRCm39) |
A104D |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,660,015 (GRCm39) |
H422R |
unknown |
Het |
| Dnah12 |
A |
G |
14: 26,590,871 (GRCm39) |
D3325G |
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,963,731 (GRCm39) |
D2514G |
probably damaging |
Het |
| Fgf9 |
T |
A |
14: 58,310,680 (GRCm39) |
H56Q |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,892,248 (GRCm39) |
Y689F |
probably damaging |
Het |
| Fhip2a |
G |
A |
19: 57,369,710 (GRCm39) |
V418I |
probably benign |
Het |
| Gar1 |
A |
T |
3: 129,624,269 (GRCm39) |
D74E |
probably damaging |
Het |
| Helq |
T |
C |
5: 100,934,927 (GRCm39) |
K488E |
possibly damaging |
Het |
| Hmg20a |
A |
G |
9: 56,381,823 (GRCm39) |
H33R |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,624 (GRCm39) |
D1703G |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,480,377 (GRCm39) |
I352F |
probably benign |
Het |
| Kng1 |
T |
C |
16: 22,879,224 (GRCm39) |
F96S |
probably damaging |
Het |
| Krtap5-2 |
C |
A |
7: 141,729,029 (GRCm39) |
S217I |
unknown |
Het |
| Lamp3 |
T |
C |
16: 19,518,455 (GRCm39) |
S261G |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,654 (GRCm39) |
F3036L |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,058,722 (GRCm39) |
R972H |
possibly damaging |
Het |
| Mccc1 |
C |
T |
3: 36,030,903 (GRCm39) |
D388N |
probably benign |
Het |
| Mcoln1 |
T |
A |
8: 3,557,436 (GRCm39) |
Y147* |
probably null |
Het |
| Mei1 |
T |
C |
15: 81,997,129 (GRCm39) |
S622P |
|
Het |
| Ms4a5 |
T |
C |
19: 11,254,058 (GRCm39) |
I136M |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,605,034 (GRCm39) |
L1013P |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,146,071 (GRCm39) |
N170S |
probably damaging |
Het |
| Ndufa12 |
G |
A |
10: 94,035,832 (GRCm39) |
G40D |
probably damaging |
Het |
| Ogdhl |
T |
A |
14: 32,059,523 (GRCm39) |
V390E |
probably damaging |
Het |
| Or10ak12 |
A |
C |
4: 118,666,999 (GRCm39) |
S21A |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,479,686 (GRCm39) |
R293G |
probably damaging |
Het |
| Or4d10 |
A |
T |
19: 12,051,567 (GRCm39) |
I143K |
possibly damaging |
Het |
| Or4f6 |
T |
A |
2: 111,839,124 (GRCm39) |
M136L |
probably benign |
Het |
| Or8g37 |
A |
T |
9: 39,731,801 (GRCm39) |
I289F |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,172,247 (GRCm39) |
D347G |
possibly damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,687 (GRCm39) |
N231K |
probably damaging |
Het |
| Pak6 |
C |
T |
2: 118,520,243 (GRCm39) |
T78M |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,649,841 (GRCm39) |
Y1006C |
probably damaging |
Het |
| Psg18 |
A |
G |
7: 18,084,880 (GRCm39) |
I193T |
probably benign |
Het |
| Psmd2 |
C |
A |
16: 20,479,173 (GRCm39) |
H677Q |
probably benign |
Het |
| Scaf11 |
C |
T |
15: 96,316,195 (GRCm39) |
R1123H |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,051,555 (GRCm39) |
S2036C |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 113,093,546 (GRCm39) |
F199S |
probably damaging |
Het |
| Slc3a2 |
A |
T |
19: 8,686,594 (GRCm39) |
S367R |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,871,304 (GRCm39) |
D222G |
probably damaging |
Het |
| Styxl1 |
T |
C |
5: 135,799,190 (GRCm39) |
E8G |
probably null |
Het |
| Sycp2l |
T |
A |
13: 41,295,256 (GRCm39) |
F308I |
probably damaging |
Het |
| Syk |
A |
C |
13: 52,778,808 (GRCm39) |
K298T |
probably benign |
Het |
| Tcp11 |
T |
A |
17: 28,286,028 (GRCm39) |
Q529L |
possibly damaging |
Het |
| Tgfbi |
A |
G |
13: 56,762,100 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tlr9 |
G |
A |
9: 106,100,721 (GRCm39) |
R4H |
probably benign |
Het |
| Top2a |
A |
C |
11: 98,914,883 (GRCm39) |
S4A |
probably benign |
Het |
| Ttc4 |
G |
T |
4: 106,528,919 (GRCm39) |
H166N |
probably benign |
Het |
| Ube2o |
C |
A |
11: 116,435,639 (GRCm39) |
R383L |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,517 (GRCm39) |
V83A |
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 |
|
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 |
|
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'- TGTCTGGGGATAGCACAGAC -3'
(R):5'- TCCTCAGTTGCTTGGGTCAGAG -3'
Sequencing Primer
(F):5'- TGGCGGAACCTGAGAATA -3'
(R):5'- GGTCAGAGGAGTTTTTGAGTTATTAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation