Incidental Mutation 'R1191:Rfwd3'
| ID |
100809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfwd3
|
| Ensembl Gene |
ENSMUSG00000033596 |
| Gene Name |
ring finger and WD repeat domain 3 |
| Synonyms |
|
| MMRRC Submission |
039263-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
R1191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111997576-112026854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112014874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 326
(R326Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038739]
|
| AlphaFold |
Q8CIK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038739
AA Change: R326Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043780
Gene: ENSMUSG00000033596
AA Change: R326Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212958
|
| Meta Mutation Damage Score |
0.1145 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.1%
- 20x: 87.9%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd27 |
T |
C |
7: 35,301,912 (GRCm39) |
F144L |
probably damaging |
Het |
| C8b |
C |
T |
4: 104,650,520 (GRCm39) |
P377S |
probably damaging |
Het |
| Cfi |
C |
A |
3: 129,662,176 (GRCm39) |
T385N |
probably benign |
Het |
| Col15a1 |
G |
T |
4: 47,254,083 (GRCm39) |
G300* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,951,478 (GRCm39) |
C119Y |
probably damaging |
Het |
| Dcaf4 |
A |
T |
12: 83,582,741 (GRCm39) |
S279C |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,304,664 (GRCm39) |
H70Q |
probably damaging |
Het |
| Gpt2 |
A |
T |
8: 86,235,901 (GRCm39) |
N179I |
probably damaging |
Het |
| Grik5 |
G |
A |
7: 24,757,750 (GRCm39) |
Q410* |
probably null |
Het |
| Hspa2 |
C |
T |
12: 76,452,655 (GRCm39) |
R450W |
probably damaging |
Het |
| Idh3b |
A |
T |
2: 130,123,810 (GRCm39) |
M118K |
probably benign |
Het |
| Ighv5-21 |
T |
C |
12: 114,286,423 (GRCm39) |
|
probably benign |
Het |
| Il12rb2 |
C |
T |
6: 67,275,200 (GRCm39) |
V642M |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,313 (GRCm39) |
V60A |
probably benign |
Het |
| Irx6 |
T |
A |
8: 93,403,580 (GRCm39) |
Y102N |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,483,481 (GRCm39) |
|
probably null |
Het |
| Mmp27 |
A |
T |
9: 7,579,067 (GRCm39) |
|
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,868,264 (GRCm39) |
M1K |
probably null |
Het |
| Or1j21 |
T |
A |
2: 36,683,350 (GRCm39) |
M34K |
probably damaging |
Het |
| Or2f2 |
C |
A |
6: 42,767,451 (GRCm39) |
H159Q |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,922 (GRCm39) |
Y50F |
probably benign |
Het |
| Or8c8 |
G |
T |
9: 38,165,501 (GRCm39) |
V263F |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,926 (GRCm39) |
R629G |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,810 (GRCm39) |
M650L |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,092,939 (GRCm39) |
M1K |
probably null |
Het |
| Strn |
T |
C |
17: 78,999,855 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Taar2 |
T |
G |
10: 23,816,927 (GRCm39) |
W156G |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,974,138 (GRCm39) |
M45I |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,930,882 (GRCm39) |
T357A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,525 (GRCm39) |
R1831* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,013,271 (GRCm39) |
Y287* |
probably null |
Het |
| Utrn |
T |
A |
10: 12,509,777 (GRCm39) |
K2398N |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,182,792 (GRCm39) |
|
probably null |
Het |
| Vps9d1 |
A |
T |
8: 123,974,706 (GRCm39) |
H249Q |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,576,215 (GRCm39) |
C432S |
probably damaging |
Het |
| Zfp369 |
T |
A |
13: 65,439,776 (GRCm39) |
Y153* |
probably null |
Het |
| Zfp760 |
C |
T |
17: 21,942,286 (GRCm39) |
P487L |
probably damaging |
Het |
| Zswim2 |
A |
C |
2: 83,754,039 (GRCm39) |
V207G |
possibly damaging |
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 |
|
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 |
|
R5781:Rfwd3
|
UTSW |
8 |
111,999,716 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- TCGCAGGGATCGGGCATAAATGAC -3'
(R):5'- TGTTTAAGGCTCCACCTCAGACACC -3'
Sequencing Primer
(F):5'- TGACAACGATGTCACTGTGC -3'
(R):5'- Acacccccatccccacc -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation