Incidental Mutation 'R9361:Resf1'
| ID |
708692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Resf1
|
| Ensembl Gene |
ENSMUSG00000032712 |
| Gene Name |
retroelement silencing factor 1 |
| Synonyms |
2810474O19Rik, GET |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9361 (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 G
at 149228132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 393
(S393A)
|
| 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: S393A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: S393A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100765
AA Change: S393A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: S393A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127680
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130664
AA Change: S393A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187881
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189837
AA Change: S393A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: S393A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1511 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189932
AA Change: S393A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: S393A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1513 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190785
AA Change: S393A
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: S393A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4617
|
451 |
1173 |
9.4e-255 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(126) : Targeted, knock-out(1) Gene trapped(125) |
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
C |
T |
8: 121,361,060 (GRCm39) |
A12T |
unknown |
Het |
| Aasdh |
T |
A |
5: 77,030,225 (GRCm39) |
T792S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,805,824 (GRCm39) |
L49Q |
probably damaging |
Het |
| Adcy3 |
G |
T |
12: 4,259,366 (GRCm39) |
R881L |
possibly damaging |
Het |
| Alox15 |
T |
G |
11: 70,241,679 (GRCm39) |
K67N |
probably damaging |
Het |
| Amotl1 |
C |
T |
9: 14,504,677 (GRCm39) |
R177Q |
probably benign |
Het |
| Ankrd34c |
T |
A |
9: 89,612,183 (GRCm39) |
I53F |
probably damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,658 (GRCm39) |
F932Y |
possibly damaging |
Het |
| Bckdk |
A |
G |
7: 127,506,515 (GRCm39) |
M281V |
probably benign |
Het |
| Ccdc33 |
C |
T |
9: 58,024,908 (GRCm39) |
C106Y |
possibly damaging |
Het |
| Celsr3 |
T |
A |
9: 108,726,521 (GRCm39) |
I3250N |
probably damaging |
Het |
| Ces1g |
A |
T |
8: 94,061,646 (GRCm39) |
|
probably null |
Het |
| Ces2b |
G |
A |
8: 105,564,039 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,479,654 (GRCm39) |
D1033V |
probably damaging |
Het |
| Cntln |
G |
T |
4: 84,968,151 (GRCm39) |
R790I |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,803,877 (GRCm39) |
V1656A |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,126,991 (GRCm39) |
S907P |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 71,068,259 (GRCm39) |
D610V |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,896,524 (GRCm39) |
T4291I |
probably benign |
Het |
| Eya4 |
C |
A |
10: 22,985,766 (GRCm39) |
G579W |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,400,076 (GRCm39) |
I342M |
probably benign |
Het |
| Fhdc1 |
A |
C |
3: 84,356,140 (GRCm39) |
C435G |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fras1 |
T |
G |
5: 96,924,557 (GRCm39) |
L3666R |
probably damaging |
Het |
| Gm21560 |
T |
A |
14: 6,218,262 (GRCm38) |
H72L |
possibly damaging |
Het |
| Gtsf2 |
C |
T |
15: 103,348,066 (GRCm39) |
W148* |
probably null |
Het |
| Gucy2c |
T |
C |
6: 136,714,429 (GRCm39) |
K466E |
possibly damaging |
Het |
| Higd2a |
T |
A |
13: 54,738,120 (GRCm39) |
D14E |
probably benign |
Het |
| Hlcs |
C |
T |
16: 93,939,799 (GRCm39) |
V513M |
probably benign |
Het |
| Ido1 |
T |
C |
8: 25,079,601 (GRCm39) |
T148A |
probably benign |
Het |
| Ighv1-5 |
T |
A |
12: 114,476,985 (GRCm39) |
T106S |
probably damaging |
Het |
| Igkv4-92 |
T |
C |
6: 68,732,090 (GRCm39) |
T95A |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
T |
G |
13: 9,199,937 (GRCm39) |
F278V |
probably damaging |
Het |
| Lrch4 |
G |
A |
5: 137,635,076 (GRCm39) |
R225H |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,252 (GRCm39) |
Y378H |
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,341,775 (GRCm39) |
C42S |
probably damaging |
Het |
| Or2y10 |
A |
G |
11: 49,455,303 (GRCm39) |
K185R |
probably damaging |
Het |
| Pdlim2 |
T |
G |
14: 70,402,190 (GRCm39) |
T309P |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prodh |
C |
T |
16: 17,898,834 (GRCm39) |
C207Y |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,213,229 (GRCm39) |
L168Q |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,051,492 (GRCm39) |
Q189R |
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,001,021 (GRCm39) |
L372S |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Specc1 |
A |
T |
11: 62,037,144 (GRCm39) |
E699D |
probably benign |
Het |
| Speer1m |
C |
T |
5: 11,970,646 (GRCm39) |
T105M |
|
Het |
| Syt6 |
C |
A |
3: 103,482,679 (GRCm39) |
|
probably benign |
Het |
| Tent5b |
G |
T |
4: 133,213,461 (GRCm39) |
A111S |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,557,246 (GRCm39) |
E969G |
possibly damaging |
Het |
| Tie1 |
A |
C |
4: 118,336,829 (GRCm39) |
H632Q |
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,796,417 (GRCm39) |
W372R |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,606 (GRCm39) |
V33A |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,575,886 (GRCm39) |
N324K |
probably damaging |
Het |
| Vmn2r79 |
G |
T |
7: 86,652,822 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
C |
6: 116,239,433 (GRCm39) |
*1335Q |
probably null |
Het |
| Yme1l1 |
C |
T |
2: 23,081,063 (GRCm39) |
T445I |
possibly damaging |
Het |
| Zdhhc11 |
T |
C |
13: 74,122,737 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,624,364 (GRCm39) |
L244P |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,690,887 (GRCm39) |
I103F |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,427,999 (GRCm39) |
T243S |
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 |
|
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 |
|
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'- CTAATGAGAAAGTCAGCATTGGAC -3'
(R):5'- TGTTGCTAGCAATTCCATGGAAC -3'
Sequencing Primer
(F):5'- CAGCATTGGACAATTCTCTGAGG -3'
(R):5'- GGAACAGTCATTGCCATTTTTAGCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation