Incidental Mutation 'IGL01610:Resf1'
| ID |
92003 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149230449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1165
(T1165M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140026
(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: T1165M
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: T1165M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: T1165M
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: T1165M
| 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 benign
Transcript: ENSMUST00000189837
AA Change: T1165M
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: T1165M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: T1165M
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: T1165M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190785
AA Change: T1165M
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: T1165M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018A14Rik |
T |
C |
18: 46,332,633 (GRCm39) |
|
probably benign |
Het |
| 4921524J17Rik |
T |
C |
8: 86,138,871 (GRCm39) |
I73V |
probably benign |
Het |
| 4930562C15Rik |
T |
A |
16: 4,669,429 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,939,867 (GRCm39) |
V323D |
probably damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,781 (GRCm39) |
Y320C |
probably damaging |
Het |
| Acp6 |
T |
A |
3: 97,083,036 (GRCm39) |
V349D |
possibly damaging |
Het |
| Adcy9 |
G |
T |
16: 4,235,978 (GRCm39) |
Q478K |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,369,928 (GRCm39) |
I1843V |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,397,353 (GRCm39) |
I2528F |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,082,839 (GRCm39) |
A1988T |
possibly damaging |
Het |
| Alox5 |
C |
T |
6: 116,390,508 (GRCm39) |
V490M |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,417,408 (GRCm39) |
R1537* |
probably null |
Het |
| Bmf |
G |
A |
2: 118,379,639 (GRCm39) |
P46S |
probably benign |
Het |
| Brf1 |
T |
A |
12: 112,951,703 (GRCm39) |
H92L |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,753,245 (GRCm39) |
N35S |
probably benign |
Het |
| Cntnap3 |
C |
T |
13: 64,905,115 (GRCm39) |
G889S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,924,906 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,816,949 (GRCm39) |
|
probably null |
Het |
| Ddx27 |
T |
C |
2: 166,863,964 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,097,504 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,814,166 (GRCm39) |
V1461A |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,804,430 (GRCm39) |
R843W |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,742 (GRCm39) |
E13G |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,499,909 (GRCm39) |
|
probably benign |
Het |
| Hpse2 |
T |
C |
19: 43,373,228 (GRCm39) |
S134G |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,284,345 (GRCm39) |
T3206A |
probably benign |
Het |
| Ier5l |
T |
A |
2: 30,363,966 (GRCm39) |
S20C |
probably damaging |
Het |
| Il1r1 |
A |
G |
1: 40,341,560 (GRCm39) |
E324G |
probably benign |
Het |
| Kdm4b |
C |
T |
17: 56,660,522 (GRCm39) |
|
probably benign |
Het |
| Lztfl1 |
T |
A |
9: 123,529,156 (GRCm39) |
E298D |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,815,405 (GRCm39) |
M647K |
probably damaging |
Het |
| Or13a25 |
C |
T |
7: 140,247,584 (GRCm39) |
A128V |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,274 (GRCm39) |
T138S |
probably benign |
Het |
| Or5j1 |
G |
T |
2: 86,878,632 (GRCm39) |
|
probably benign |
Het |
| Parvb |
A |
T |
15: 84,187,666 (GRCm39) |
K258M |
probably damaging |
Het |
| Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,566,372 (GRCm39) |
A1024S |
possibly damaging |
Het |
| Pde4a |
T |
C |
9: 21,122,646 (GRCm39) |
|
probably benign |
Het |
| Pgr |
A |
T |
9: 8,903,692 (GRCm39) |
H571L |
possibly damaging |
Het |
| Phf20 |
G |
T |
2: 156,144,809 (GRCm39) |
E806* |
probably null |
Het |
| Pilra |
T |
A |
5: 137,833,803 (GRCm39) |
I85F |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,480,622 (GRCm39) |
V125M |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,705 (GRCm39) |
N708S |
probably benign |
Het |
| Rnase4 |
A |
T |
14: 51,342,378 (GRCm39) |
Y34F |
probably damaging |
Het |
| Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
| Rpl9-ps6 |
T |
A |
19: 32,443,699 (GRCm39) |
T85S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,246,124 (GRCm39) |
P738S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,550,217 (GRCm39) |
|
probably benign |
Het |
| Sel1l |
C |
T |
12: 91,784,064 (GRCm39) |
V459I |
probably damaging |
Het |
| Senp7 |
A |
T |
16: 55,996,186 (GRCm39) |
D755V |
possibly damaging |
Het |
| Serpinb9d |
A |
T |
13: 33,381,985 (GRCm39) |
K151N |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,362,576 (GRCm39) |
F81S |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,083,502 (GRCm39) |
L162Q |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,216 (GRCm39) |
I264T |
possibly damaging |
Het |
| Tbl3 |
A |
T |
17: 24,923,018 (GRCm39) |
V379D |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,707,512 (GRCm39) |
L1762Q |
probably damaging |
Het |
| Trerf1 |
A |
T |
17: 47,630,501 (GRCm39) |
|
noncoding transcript |
Het |
| Ttc13 |
T |
C |
8: 125,403,083 (GRCm39) |
D552G |
probably damaging |
Het |
| Tuba3a |
G |
T |
6: 125,255,529 (GRCm39) |
T382K |
possibly damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,977 (GRCm39) |
V103E |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,307 (GRCm39) |
H139R |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,940,670 (GRCm39) |
F141Y |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,673,333 (GRCm39) |
Y143* |
probably null |
Het |
| Zfp207 |
T |
A |
11: 80,276,796 (GRCm39) |
C26S |
probably 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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation