Incidental Mutation 'R1435:Resf1'
| ID |
159448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
039490-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149227580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 209
(T209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115573
(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: T209A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: T209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: T209A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: T209A
| 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
AA Change: T209A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189837
AA Change: T209A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: T209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: T209A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: T209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
AA Change: T209A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: T209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.0%
- 20x: 81.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
G |
11: 69,905,642 (GRCm39) |
T62P |
probably benign |
Het |
| Amz1 |
A |
T |
5: 140,733,921 (GRCm39) |
N166Y |
probably damaging |
Het |
| Anxa6 |
T |
C |
11: 54,882,236 (GRCm39) |
Q518R |
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,202,605 (GRCm39) |
|
probably null |
Het |
| Arid1a |
C |
T |
4: 133,408,009 (GRCm39) |
R2166Q |
unknown |
Het |
| Asb4 |
T |
G |
6: 5,398,410 (GRCm39) |
I125S |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| Atxn3 |
A |
G |
12: 101,908,460 (GRCm39) |
F131L |
probably benign |
Het |
| B3gnt5 |
T |
A |
16: 19,587,924 (GRCm39) |
Y48N |
probably damaging |
Het |
| Bglap3 |
A |
G |
3: 88,276,453 (GRCm39) |
M35T |
possibly damaging |
Het |
| Cabp1 |
A |
T |
5: 115,311,267 (GRCm39) |
D79E |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,070 (GRCm39) |
Q1155L |
probably benign |
Het |
| Chd2 |
C |
T |
7: 73,102,884 (GRCm39) |
R1367Q |
probably damaging |
Het |
| Clec5a |
T |
A |
6: 40,561,358 (GRCm39) |
Q29L |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,947,711 (GRCm39) |
L7P |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,907,026 (GRCm39) |
I183V |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,792,341 (GRCm39) |
G1297D |
unknown |
Het |
| Csnk1g3 |
G |
A |
18: 54,039,746 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
A |
T |
4: 115,463,863 (GRCm39) |
N134I |
probably damaging |
Het |
| Cyp4f16 |
CTATG |
CTATGTATG |
17: 32,769,708 (GRCm39) |
|
probably null |
Het |
| Dst |
G |
A |
1: 34,153,026 (GRCm39) |
V56M |
probably damaging |
Het |
| Engase |
A |
T |
11: 118,375,727 (GRCm39) |
T32S |
probably damaging |
Het |
| Fam117b |
T |
C |
1: 60,008,222 (GRCm39) |
I352T |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,364,508 (GRCm39) |
D290E |
probably benign |
Het |
| Gtf2a1l |
C |
A |
17: 89,001,743 (GRCm39) |
H153N |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,311,519 (GRCm39) |
T1253N |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,750,714 (GRCm39) |
S398G |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,144,459 (GRCm39) |
F49I |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,649,006 (GRCm39) |
S808P |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,922,776 (GRCm39) |
L289P |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,563,943 (GRCm39) |
D358E |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,970,411 (GRCm39) |
W832R |
probably damaging |
Het |
| Mfsd4a |
G |
T |
1: 131,995,494 (GRCm39) |
T46K |
probably damaging |
Het |
| N4bp3 |
G |
A |
11: 51,535,167 (GRCm39) |
R341W |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,222,646 (GRCm39) |
H541L |
probably benign |
Het |
| Or51f2 |
T |
C |
7: 102,526,974 (GRCm39) |
S216P |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,209 (GRCm39) |
H220Q |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,536,039 (GRCm39) |
L1353S |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,541,246 (GRCm39) |
C844* |
probably null |
Het |
| Pdk2 |
T |
C |
11: 94,922,721 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,075 (GRCm39) |
V292A |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Pnpla2 |
G |
A |
7: 141,037,324 (GRCm39) |
R109H |
probably benign |
Het |
| Polh |
G |
A |
17: 46,505,181 (GRCm39) |
T145I |
probably damaging |
Het |
| Polr3d |
A |
T |
14: 70,677,479 (GRCm39) |
V299E |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,011 (GRCm39) |
T586M |
probably benign |
Het |
| Rbm20 |
T |
A |
19: 53,802,588 (GRCm39) |
F365L |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,326,831 (GRCm39) |
C1606F |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,195,464 (GRCm39) |
V758A |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,463,603 (GRCm39) |
M451K |
probably damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,803,265 (GRCm39) |
S359P |
probably damaging |
Het |
| Slc45a1 |
G |
T |
4: 150,728,505 (GRCm39) |
F99L |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,500 (GRCm39) |
N754K |
possibly damaging |
Het |
| Taf4b |
A |
T |
18: 14,940,466 (GRCm39) |
Q315L |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,524 (GRCm39) |
W63R |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,818,342 (GRCm39) |
N544K |
probably benign |
Het |
| Tnfsf13b |
A |
G |
8: 10,085,358 (GRCm39) |
I283V |
probably benign |
Het |
| Tnfsf14 |
T |
A |
17: 57,497,605 (GRCm39) |
E209V |
possibly damaging |
Het |
| Uckl1 |
T |
G |
2: 181,214,926 (GRCm39) |
S283R |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,209,294 (GRCm39) |
D300G |
probably damaging |
Het |
| Virma |
C |
T |
4: 11,528,621 (GRCm39) |
A1286V |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,629 (GRCm39) |
M261K |
possibly damaging |
Het |
| Vwf |
A |
T |
6: 125,619,212 (GRCm39) |
K1297* |
probably null |
Het |
| Zdbf2 |
G |
A |
1: 63,342,199 (GRCm39) |
E193K |
possibly damaging |
Het |
| Zfp759 |
T |
G |
13: 67,286,830 (GRCm39) |
I127S |
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 |
|
|
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 |
|
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'- ATCTCATAATCCCGACGGAGGGAC -3'
(R):5'- AGAAACAGGCTGAGCATTCTGCAC -3'
Sequencing Primer
(F):5'- GAGGGACTAATATGCCTTACATGC -3'
(R):5'- CTGAGCATTCTGCACATGTTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation