Incidental Mutation 'R5781:Rfwd3'
| ID |
447734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfwd3
|
| Ensembl Gene |
ENSMUSG00000033596 |
| Gene Name |
ring finger and WD repeat domain 3 |
| Synonyms |
|
| MMRRC Submission |
043378-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
R5781 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111997576-112026854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111999716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 754
(T754M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038739]
|
| AlphaFold |
Q8CIK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038739
AA Change: T754M
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000043780
Gene: ENSMUSG00000033596
AA Change: T754M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
243 |
N/A |
INTRINSIC |
|
RING
|
288 |
331 |
3.78e-5 |
SMART |
|
coiled coil region
|
355 |
403 |
N/A |
INTRINSIC |
|
WD40
|
486 |
526 |
1.38e-2 |
SMART |
|
WD40
|
529 |
568 |
6.43e-3 |
SMART |
|
Blast:WD40
|
683 |
730 |
2e-12 |
BLAST |
|
Blast:WD40
|
733 |
772 |
4e-15 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male fertility (possibly infertility), gonad atrophy, oligospermia, failure of follicular development, increased cellular sensitivity to MMC treatment, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,992,813 (GRCm39) |
L1617P |
probably damaging |
Het |
| Abhd16b |
T |
C |
2: 181,135,947 (GRCm39) |
V283A |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 58,971,040 (GRCm39) |
R208L |
possibly damaging |
Het |
| Adamts4 |
T |
C |
1: 171,078,584 (GRCm39) |
I56T |
possibly damaging |
Het |
| Alpk1 |
A |
C |
3: 127,473,684 (GRCm39) |
V773G |
possibly damaging |
Het |
| Arhgap10 |
G |
T |
8: 78,177,336 (GRCm39) |
Q100K |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,489,439 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,564,377 (GRCm39) |
H277L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,514,074 (GRCm39) |
V291E |
probably damaging |
Het |
| Cnot6l |
A |
C |
5: 96,234,024 (GRCm39) |
V329G |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,286,908 (GRCm39) |
T910A |
unknown |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,567 (GRCm39) |
I846T |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,914 (GRCm39) |
S129T |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,623,898 (GRCm39) |
V1377A |
probably damaging |
Het |
| Haus6 |
C |
T |
4: 86,519,500 (GRCm39) |
A203T |
possibly damaging |
Het |
| Hkdc1 |
T |
G |
10: 62,253,712 (GRCm39) |
D23A |
probably damaging |
Het |
| Hpdl |
C |
T |
4: 116,677,775 (GRCm39) |
V229M |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,518 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,454,866 (GRCm39) |
P59S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,487,699 (GRCm39) |
C2374Y |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,139 (GRCm39) |
Y114* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,468 (GRCm39) |
I275K |
probably damaging |
Het |
| Mc2r |
A |
T |
18: 68,540,466 (GRCm39) |
Y276N |
possibly damaging |
Het |
| Mlycd |
A |
G |
8: 120,137,019 (GRCm39) |
Y413C |
probably damaging |
Het |
| Mocs2 |
T |
G |
13: 114,957,455 (GRCm39) |
S86R |
probably damaging |
Het |
| Msx2 |
C |
A |
13: 53,626,644 (GRCm39) |
A35S |
probably benign |
Het |
| Or6c201 |
A |
T |
10: 128,969,016 (GRCm39) |
L207H |
probably damaging |
Het |
| Pla2g4f |
C |
A |
2: 120,135,504 (GRCm39) |
S390I |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,148 (GRCm39) |
A163V |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,118,605 (GRCm39) |
V396A |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,270 (GRCm39) |
|
probably benign |
Het |
| Recql |
G |
T |
6: 142,311,344 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,089 (GRCm39) |
N1195K |
probably benign |
Het |
| Sctr |
A |
G |
1: 119,959,350 (GRCm39) |
T98A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,921,803 (GRCm39) |
D6E |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,684,034 (GRCm39) |
I264K |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,736,804 (GRCm39) |
I154V |
probably benign |
Het |
| Tbc1d12 |
A |
C |
19: 38,871,127 (GRCm39) |
T297P |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,385 (GRCm39) |
D226G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,846,588 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,195,407 (GRCm39) |
Y1210H |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Vmn2r120 |
T |
G |
17: 57,831,938 (GRCm39) |
T284P |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,794,181 (GRCm39) |
A2286S |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,331,332 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
Het |
|
| Other mutations in Rfwd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02160:Rfwd3
|
APN |
8 |
111,999,707 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02193:Rfwd3
|
APN |
8 |
111,999,647 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02282:Rfwd3
|
APN |
8 |
112,020,614 (GRCm39) |
splice site |
probably benign |
|
|
IGL02903:Rfwd3
|
APN |
8 |
112,004,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4468001:Rfwd3
|
UTSW |
8 |
112,009,352 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0254:Rfwd3
|
UTSW |
8 |
112,020,655 (GRCm39) |
missense |
probably benign |
|
|
R0279:Rfwd3
|
UTSW |
8 |
112,009,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0531:Rfwd3
|
UTSW |
8 |
112,020,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1137:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1164:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1168:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1191:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1192:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1258:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1259:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1260:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1261:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1439:Rfwd3
|
UTSW |
8 |
112,004,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1579:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1580:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1581:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1763:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1774:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1785:Rfwd3
|
UTSW |
8 |
112,024,034 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1786:Rfwd3
|
UTSW |
8 |
112,024,034 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2059:Rfwd3
|
UTSW |
8 |
112,024,127 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2130:Rfwd3
|
UTSW |
8 |
112,024,034 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2132:Rfwd3
|
UTSW |
8 |
112,024,034 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2133:Rfwd3
|
UTSW |
8 |
112,024,034 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2145:Rfwd3
|
UTSW |
8 |
112,009,245 (GRCm39) |
missense |
probably benign |
|
|
R2174:Rfwd3
|
UTSW |
8 |
112,009,975 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3897:Rfwd3
|
UTSW |
8 |
112,014,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4625:Rfwd3
|
UTSW |
8 |
112,002,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5121:Rfwd3
|
UTSW |
8 |
112,009,385 (GRCm39) |
splice site |
probably null |
|
|
R5480:Rfwd3
|
UTSW |
8 |
112,000,464 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7417:Rfwd3
|
UTSW |
8 |
111,999,701 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7510:Rfwd3
|
UTSW |
8 |
112,006,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9335:Rfwd3
|
UTSW |
8 |
112,006,567 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1088:Rfwd3
|
UTSW |
8 |
112,024,238 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Rfwd3
|
UTSW |
8 |
111,999,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATCCAGACGCTCCAGTC -3'
(R):5'- AGAAATGAGTTCTTGGCTTGC -3'
Sequencing Primer
(F):5'- GTCCCAGCATGTAAACAGATATCTC -3'
(R):5'- GCTTGCTTTTAAAGGCAGCATAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation