Incidental Mutation 'R1259:Rfwd3'
ID |
151546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfwd3
|
Ensembl Gene |
ENSMUSG00000033596 |
Gene Name |
ring finger and WD repeat domain 3 |
Synonyms |
|
MMRRC Submission |
039326-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.474)
|
Stock # |
R1259 (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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
A |
8: 44,021,684 (GRCm39) |
D602V |
probably benign |
Het |
Adam26a |
T |
C |
8: 44,021,750 (GRCm39) |
D580G |
possibly damaging |
Het |
B4galt6 |
T |
G |
18: 20,839,559 (GRCm39) |
E125A |
possibly damaging |
Het |
Dnm1l |
A |
G |
16: 16,141,870 (GRCm39) |
I292T |
possibly damaging |
Het |
Elp3 |
A |
T |
14: 65,785,388 (GRCm39) |
I471K |
probably damaging |
Het |
Fbxw13 |
A |
T |
9: 109,014,439 (GRCm39) |
V83E |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,111 (GRCm39) |
|
noncoding transcript |
Het |
Krtap6-5 |
C |
T |
16: 88,844,607 (GRCm39) |
R42H |
unknown |
Het |
Lpcat2b |
C |
T |
5: 107,581,763 (GRCm39) |
A364V |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Lypd9 |
A |
G |
11: 58,338,296 (GRCm39) |
I32T |
probably benign |
Het |
Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,226,464 (GRCm39) |
|
probably benign |
Het |
Or8b42 |
T |
A |
9: 38,342,169 (GRCm39) |
L197Q |
probably damaging |
Het |
Or8k16 |
T |
A |
2: 85,519,875 (GRCm39) |
I34N |
probably damaging |
Het |
Pbrm1 |
T |
C |
14: 30,796,771 (GRCm39) |
F871L |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,097,324 (GRCm39) |
D493V |
probably damaging |
Het |
Pik3cd |
G |
A |
4: 149,735,105 (GRCm39) |
R1046* |
probably null |
Het |
Pom121l2 |
G |
A |
13: 22,166,297 (GRCm39) |
W189* |
probably null |
Het |
Prex2 |
C |
A |
1: 11,359,494 (GRCm39) |
N1567K |
probably damaging |
Het |
Prl |
A |
G |
13: 27,245,472 (GRCm39) |
|
probably null |
Het |
Ptpro |
T |
C |
6: 137,369,739 (GRCm39) |
V517A |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,239,763 (GRCm39) |
I267F |
probably damaging |
Het |
Wasf3 |
T |
C |
5: 146,388,786 (GRCm39) |
V80A |
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 |
R1258: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 |