Incidental Mutation 'R8977:Resf1'
| ID |
683495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
068715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8977 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 149229906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 984
(I984N)
|
| 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 damaging
Transcript: ENSMUST00000046689
AA Change: I984N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: I984N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100765
AA Change: I984N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: I984N
| 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 damaging
Transcript: ENSMUST00000189837
AA Change: I984N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: I984N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189932
AA Change: I984N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: I984N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190785
AA Change: I984N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: I984N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
A |
G |
11: 58,184,710 (GRCm39) |
E476G |
unknown |
Het |
| Aars1 |
G |
A |
8: 111,766,849 (GRCm39) |
R77Q |
probably damaging |
Het |
| Abcc10 |
C |
A |
17: 46,624,593 (GRCm39) |
V795L |
probably benign |
Het |
| Adam30 |
A |
G |
3: 98,069,378 (GRCm39) |
K276E |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,453,996 (GRCm39) |
N271I |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,660,223 (GRCm39) |
I17V |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,483,322 (GRCm39) |
G1258C |
probably damaging |
Het |
| Ank2 |
G |
T |
3: 126,738,575 (GRCm39) |
H2436Q |
unknown |
Het |
| Ankrd13a |
A |
T |
5: 114,933,806 (GRCm39) |
K267* |
probably null |
Het |
| Apob |
T |
C |
12: 8,065,990 (GRCm39) |
Y4320H |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,750,325 (GRCm39) |
D678G |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,809,096 (GRCm39) |
V239F |
possibly damaging |
Het |
| Cbfa2t2 |
T |
G |
2: 154,342,410 (GRCm39) |
L42R |
probably benign |
Het |
| Ccer2 |
G |
A |
7: 28,456,113 (GRCm39) |
V52M |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,383 (GRCm39) |
F187S |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,614,810 (GRCm39) |
V1286I |
probably benign |
Het |
| Cfap210 |
T |
C |
2: 69,617,643 (GRCm39) |
H46R |
possibly damaging |
Het |
| Cfap46 |
G |
T |
7: 139,259,849 (GRCm39) |
T148N |
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,923,754 (GRCm39) |
F8S |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,840,751 (GRCm39) |
D549E |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,204,747 (GRCm39) |
L240P |
probably benign |
Het |
| Dst |
A |
T |
1: 34,286,864 (GRCm39) |
R3398S |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,734,182 (GRCm39) |
I1186T |
possibly damaging |
Het |
| Extl1 |
T |
C |
4: 134,086,435 (GRCm39) |
E540G |
possibly damaging |
Het |
| Gdpd5 |
A |
G |
7: 99,103,057 (GRCm39) |
I339V |
probably benign |
Het |
| Ggcx |
T |
C |
6: 72,406,265 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
A |
G |
14: 72,691,338 (GRCm39) |
F1637L |
unknown |
Het |
| Igkv5-48 |
G |
C |
6: 69,703,616 (GRCm39) |
N96K |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,662,922 (GRCm39) |
I546T |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,955,000 (GRCm39) |
F624L |
possibly damaging |
Het |
| Map7 |
T |
A |
10: 20,145,336 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
A |
T |
12: 66,844,409 (GRCm39) |
D196E |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,791 (GRCm39) |
C143R |
probably benign |
Het |
| Mmut |
G |
T |
17: 41,249,481 (GRCm39) |
R152L |
probably benign |
Het |
| Ncam1 |
G |
T |
9: 49,418,825 (GRCm39) |
T825K |
probably damaging |
Het |
| Nucb2 |
C |
A |
7: 116,128,063 (GRCm39) |
N257K |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,651 (GRCm39) |
S53P |
probably benign |
Het |
| Or1p1c |
A |
T |
11: 74,160,304 (GRCm39) |
I30F |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,740,016 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or51i1 |
A |
T |
7: 103,670,762 (GRCm39) |
Y254* |
probably null |
Het |
| Or52n1 |
A |
T |
7: 104,383,248 (GRCm39) |
F108I |
probably damaging |
Het |
| Or8k38 |
C |
T |
2: 86,488,472 (GRCm39) |
C110Y |
probably benign |
Het |
| Pamr1 |
T |
A |
2: 102,441,963 (GRCm39) |
V184D |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,442,888 (GRCm39) |
I293F |
possibly damaging |
Het |
| Pi15 |
G |
T |
1: 17,690,126 (GRCm39) |
|
probably null |
Het |
| Pkm |
T |
A |
9: 59,578,923 (GRCm39) |
I301N |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,123,961 (GRCm39) |
I212N |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,701,373 (GRCm39) |
I549F |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,386,870 (GRCm39) |
E1105G |
probably benign |
Het |
| Rad51b |
T |
A |
12: 79,704,662 (GRCm39) |
V274E |
probably damaging |
Het |
| Rd3l |
T |
A |
12: 111,946,593 (GRCm39) |
Y61F |
probably damaging |
Het |
| Rgs11 |
T |
C |
17: 26,427,233 (GRCm39) |
V388A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,566 (GRCm39) |
I901V |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,312,195 (GRCm39) |
D444G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,594,014 (GRCm39) |
V1621E |
probably damaging |
Het |
| Sec11c |
A |
G |
18: 65,945,818 (GRCm39) |
I94V |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,556,815 (GRCm39) |
I337T |
probably benign |
Het |
| Slc6a19 |
T |
C |
13: 73,830,269 (GRCm39) |
K516E |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,628,980 (GRCm39) |
M596L |
probably benign |
Het |
| Smarce1 |
A |
G |
11: 99,110,511 (GRCm39) |
I100T |
possibly damaging |
Het |
| Stk32c |
A |
T |
7: 138,705,161 (GRCm39) |
M119K |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,266 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,461,177 (GRCm39) |
N908Y |
probably damaging |
Het |
| Tex38 |
A |
G |
4: 115,637,792 (GRCm39) |
S4P |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,393,239 (GRCm38) |
H299Q |
probably benign |
Het |
| Trim55 |
C |
A |
3: 19,713,341 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,774,531 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,916 (GRCm39) |
T276I |
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 |
|
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'- ACCTTGGAATGTTGGATCCAG -3'
(R):5'- CTCCATTTTCAGTGAGGTATCATGC -3'
Sequencing Primer
(F):5'- GAGAAAGACAAAATCCATTGCTGTGC -3'
(R):5'- AGGCTAATTCCTGTCCCTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation