Incidental Mutation 'R1258:Rfwd3'
ID |
151521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfwd3
|
Ensembl Gene |
ENSMUSG00000033596 |
Gene Name |
ring finger and WD repeat domain 3 |
Synonyms |
|
MMRRC Submission |
039325-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.474)
|
Stock # |
R1258 (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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
T |
C |
7: 133,539,176 (GRCm39) |
E112G |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,390,122 (GRCm39) |
N17D |
probably benign |
Het |
Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
Igsf9 |
G |
A |
1: 172,319,722 (GRCm39) |
R339H |
probably benign |
Het |
Inpp5a |
G |
T |
7: 139,105,660 (GRCm39) |
G212C |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,723,464 (GRCm39) |
E1133G |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Pcdhb17 |
A |
T |
18: 37,618,587 (GRCm39) |
I126L |
probably damaging |
Het |
Qtrt2 |
A |
G |
16: 43,689,446 (GRCm39) |
V184A |
possibly damaging |
Het |
Sall3 |
G |
A |
18: 81,017,280 (GRCm39) |
A216V |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
St8sia6 |
T |
C |
2: 13,661,695 (GRCm39) |
M379V |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,154,225 (GRCm39) |
L2144H |
probably damaging |
Het |
Ypel1 |
A |
T |
16: 16,923,917 (GRCm39) |
L44H |
probably damaging |
Het |
Ythdf1 |
C |
A |
2: 180,553,103 (GRCm39) |
A371S |
probably benign |
Het |
Zdhhc16 |
G |
A |
19: 41,926,483 (GRCm39) |
V89M |
possibly damaging |
Het |
Zfp37 |
A |
T |
4: 62,110,054 (GRCm39) |
Y375N |
probably damaging |
Het |
Zmat3 |
A |
T |
3: 32,397,820 (GRCm39) |
N147K |
probably 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 |
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 |
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 |
2014-01-29 |