Incidental Mutation 'R5418:Resf1'
| ID |
427846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
042986-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5418 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
149210912-149237161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149227634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 227
(Y227H)
|
| 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: Y227H
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: Y227H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100765
AA Change: Y227H
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: Y227H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130664
AA Change: Y227H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189837
AA Change: Y227H
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: Y227H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189932
AA Change: Y227H
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: Y227H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190785
AA Change: Y227H
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: Y227H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Meta Mutation Damage Score |
0.1729 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (81/82) |
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,244,738 (GRCm39) |
S205P |
probably damaging |
Het |
| Abcc1 |
T |
C |
16: 14,278,996 (GRCm39) |
V1102A |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
| Acoxl |
T |
A |
2: 127,719,722 (GRCm39) |
M161K |
probably benign |
Het |
| Adamts4 |
T |
A |
1: 171,080,143 (GRCm39) |
V35E |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,894 (GRCm39) |
S614G |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,567,427 (GRCm39) |
I5249L |
probably benign |
Het |
| Agps |
A |
G |
2: 75,689,248 (GRCm39) |
T252A |
probably damaging |
Het |
| Alms1-ps1 |
G |
A |
6: 85,732,584 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd24 |
T |
A |
10: 81,480,776 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,733 (GRCm39) |
Q218R |
possibly damaging |
Het |
| Bin2 |
T |
C |
15: 100,547,027 (GRCm39) |
Y232C |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,002,120 (GRCm39) |
Y331H |
probably damaging |
Het |
| Ccr10 |
C |
T |
11: 101,064,904 (GRCm39) |
V209M |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,791,810 (GRCm39) |
D371V |
possibly damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,931 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
A |
G |
5: 109,704,899 (GRCm39) |
V104A |
probably benign |
Het |
| Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,281,935 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,985,810 (GRCm39) |
E1422D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Efcab11 |
A |
G |
12: 99,821,877 (GRCm39) |
L80S |
possibly damaging |
Het |
| Emc8 |
G |
A |
8: 121,385,342 (GRCm39) |
T130M |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 27,688,467 (GRCm39) |
M196V |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,622,061 (GRCm39) |
T13M |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,203,966 (GRCm39) |
K423E |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,784,738 (GRCm39) |
G266D |
probably damaging |
Het |
| Fndc4 |
A |
T |
5: 31,451,978 (GRCm39) |
S146R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,079,935 (GRCm39) |
|
probably null |
Het |
| Glrx2 |
C |
A |
1: 143,615,446 (GRCm39) |
S16R |
possibly damaging |
Het |
| Gm26526 |
T |
G |
7: 39,238,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
C |
T |
2: 34,898,195 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,787,313 (GRCm39) |
C1695R |
probably damaging |
Het |
| Hic1 |
A |
G |
11: 75,057,425 (GRCm39) |
|
probably null |
Het |
| Igkv4-92 |
A |
T |
6: 68,732,564 (GRCm39) |
V5E |
possibly damaging |
Het |
| Irs1 |
G |
A |
1: 82,266,491 (GRCm39) |
T575I |
probably damaging |
Het |
| Kcp |
A |
T |
6: 29,504,283 (GRCm39) |
Y143* |
probably null |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klra6 |
T |
A |
6: 129,990,393 (GRCm39) |
L239F |
probably damaging |
Het |
| Lhx6 |
A |
G |
2: 35,977,378 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
G |
A |
3: 30,696,923 (GRCm39) |
P116S |
possibly damaging |
Het |
| Map3k9 |
T |
A |
12: 81,790,591 (GRCm39) |
K321* |
probably null |
Het |
| Mapk14 |
T |
C |
17: 28,960,817 (GRCm39) |
V196A |
possibly damaging |
Het |
| Matcap2 |
G |
T |
9: 22,343,066 (GRCm39) |
R187L |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,732,600 (GRCm39) |
S627P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,553,410 (GRCm39) |
Y2631N |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,524,035 (GRCm39) |
V153A |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,552,343 (GRCm39) |
I37M |
probably benign |
Het |
| Pax6 |
A |
T |
2: 105,521,910 (GRCm39) |
D175V |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,213,519 (GRCm39) |
L1793P |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,140,506 (GRCm39) |
V404A |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,050,694 (GRCm39) |
Y421H |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,612,961 (GRCm39) |
V3173G |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,599,840 (GRCm39) |
I49N |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,699 (GRCm39) |
V400E |
probably damaging |
Het |
| Rbm11 |
A |
C |
16: 75,393,423 (GRCm39) |
T40P |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Sema3f |
A |
G |
9: 107,569,820 (GRCm39) |
Y70H |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,029,151 (GRCm39) |
E505K |
possibly damaging |
Het |
| Slc25a3 |
T |
C |
10: 90,955,398 (GRCm39) |
I147M |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,760,280 (GRCm38) |
S572T |
probably benign |
Het |
| Smarcal1 |
C |
T |
1: 72,638,068 (GRCm39) |
P501S |
probably benign |
Het |
| Sox7 |
C |
T |
14: 64,185,396 (GRCm39) |
T144M |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,797,214 (GRCm39) |
F304S |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,263,517 (GRCm39) |
F46L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,832,518 (GRCm39) |
E113K |
probably damaging |
Het |
| Vmn1r232 |
T |
A |
17: 21,134,378 (GRCm39) |
Y74F |
possibly damaging |
Het |
| Vmn2r102 |
C |
T |
17: 19,914,415 (GRCm39) |
T660I |
probably damaging |
Het |
| Zdhhc3 |
A |
G |
9: 122,909,456 (GRCm39) |
M234T |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,307,805 (GRCm39) |
L173H |
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 |
|
|
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 |
|
|
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'- TCCACCACAGAATCAGCTTGTC -3'
(R):5'- AGAAACAGGCTGAGCATTCTG -3'
Sequencing Primer
(F):5'- GAATCAGCTTGTCACATCAGATAC -3'
(R):5'- AGGCTGAGCATTCTGCACATG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation