Incidental Mutation 'R9106:Resf1'
| ID |
692013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
068970-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149230368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1138
(V1138A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000046689
AA Change: V1138A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: V1138A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100765
AA Change: V1138A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: V1138A
| 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 |
possibly damaging
Transcript: ENSMUST00000189837
AA Change: V1138A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: V1138A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189932
AA Change: V1138A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: V1138A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: V1138A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| Ahctf1 |
C |
A |
1: 179,614,601 (GRCm39) |
K394N |
probably benign |
Het |
| Banp |
A |
T |
8: 122,705,372 (GRCm39) |
T81S |
possibly damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,465 (GRCm39) |
E495G |
probably benign |
Het |
| Cfap69 |
T |
C |
5: 5,690,190 (GRCm39) |
I158M |
possibly damaging |
Het |
| Cgnl1 |
C |
A |
9: 71,628,873 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,753,223 (GRCm39) |
Q186L |
probably damaging |
Het |
| Clspn |
G |
A |
4: 126,471,243 (GRCm39) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,432,162 (GRCm39) |
E224G |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,884 (GRCm39) |
L155P |
probably damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,773,682 (GRCm39) |
A238T |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,121,752 (GRCm39) |
Y1410C |
probably damaging |
Het |
| Fam186a |
AGCCGCTGCCGCTGCCGCTGCCGC |
AGCCGCTGCCGCTGCCGC |
15: 99,844,107 (GRCm39) |
|
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,488,910 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
T |
G |
8: 57,985,729 (GRCm39) |
D547A |
probably damaging |
Het |
| Gm1527 |
C |
A |
3: 28,956,440 (GRCm39) |
D135E |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,747 (GRCm39) |
I679T |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,467,619 (GRCm39) |
R2523S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,637 (GRCm39) |
S218R |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 36,776,891 (GRCm39) |
A4T |
unknown |
Het |
| Ly6f |
G |
T |
15: 75,141,706 (GRCm39) |
D50Y |
probably damaging |
Het |
| Mafg |
GGTTCTTCAGTGT |
GGT |
11: 120,520,415 (GRCm39) |
|
probably null |
Het |
| Map2 |
T |
A |
1: 66,454,522 (GRCm39) |
Y1137* |
probably null |
Het |
| Map4k3 |
C |
A |
17: 81,035,257 (GRCm39) |
R21L |
possibly damaging |
Het |
| Mapk10 |
A |
T |
5: 103,186,442 (GRCm39) |
V90D |
probably damaging |
Het |
| Mapkapk3 |
T |
A |
9: 107,136,067 (GRCm39) |
E219V |
probably damaging |
Het |
| Mideas |
T |
C |
12: 84,199,327 (GRCm39) |
Y1040C |
probably damaging |
Het |
| Mos |
T |
G |
4: 3,871,457 (GRCm39) |
I120L |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,679 (GRCm39) |
V83A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,065,768 (GRCm39) |
Q19R |
probably damaging |
Het |
| Myrip |
T |
C |
9: 120,261,544 (GRCm39) |
S386P |
probably benign |
Het |
| Mzt2 |
A |
G |
16: 15,666,568 (GRCm39) |
W141R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,428,856 (GRCm39) |
Y710H |
probably damaging |
Het |
| Nlrp9c |
G |
T |
7: 26,081,837 (GRCm39) |
L630I |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,527 (GRCm39) |
S29T |
probably benign |
Het |
| Oplah |
C |
A |
15: 76,189,876 (GRCm39) |
G150C |
probably benign |
Het |
| Or4c11b |
A |
G |
2: 88,625,016 (GRCm39) |
T97A |
probably benign |
Het |
| Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or52a20 |
G |
A |
7: 103,366,737 (GRCm39) |
C312Y |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,986,369 (GRCm39) |
Q10R |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,908,973 (GRCm39) |
K460R |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,179,100 (GRCm39) |
|
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,680,757 (GRCm39) |
I17V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,144,789 (GRCm39) |
D134G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,570,315 (GRCm39) |
T763I |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 78,276,358 (GRCm39) |
D61G |
probably benign |
Het |
| Ptk2 |
T |
C |
15: 73,131,457 (GRCm39) |
M589V |
possibly damaging |
Het |
| Rabl6 |
A |
G |
2: 25,486,446 (GRCm39) |
W153R |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,109 (GRCm39) |
I843V |
|
Het |
| Rnf19b |
A |
G |
4: 128,977,940 (GRCm39) |
E719G |
|
Het |
| Sart3 |
T |
C |
5: 113,892,410 (GRCm39) |
D363G |
possibly damaging |
Het |
| Sgo2a |
C |
A |
1: 58,037,283 (GRCm39) |
D9E |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,725,097 (GRCm39) |
V450A |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,668,416 (GRCm39) |
Y483N |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,617,974 (GRCm39) |
T475A |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,458 (GRCm39) |
F110L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,975 (GRCm39) |
I686V |
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,495,269 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tagap |
A |
T |
17: 8,150,280 (GRCm39) |
N222Y |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,278,479 (GRCm39) |
V1010M |
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,300,664 (GRCm39) |
I669N |
possibly damaging |
Het |
| Ubp1 |
A |
G |
9: 113,799,319 (GRCm39) |
T425A |
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,681,713 (GRCm39) |
I508T |
probably damaging |
Het |
| Vit |
G |
A |
17: 78,934,278 (GRCm39) |
D627N |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
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 |
|
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'- AGCCCCTGAAATACTTCACG -3'
(R):5'- GAACTGTCTTTTCTTGAACACTGG -3'
Sequencing Primer
(F):5'- ACTTCACGTAACAACTTCTAACTCTG -3'
(R):5'- GAATACTGCACAATTTGAGTGTGTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation