Incidental Mutation 'IGL02903:Rfwd3'
| ID |
363706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rfwd3
|
| Ensembl Gene |
ENSMUSG00000033596 |
| Gene Name |
ring finger and WD repeat domain 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
IGL02903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111997576-112026854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112004861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 574
(T574A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038739]
|
| AlphaFold |
Q8CIK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038739
AA Change: T574A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043780
Gene: ENSMUSG00000033596
AA Change: T574A
| 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
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
G |
6: 116,397,296 (GRCm39) |
N296T |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,045,004 (GRCm39) |
E301K |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,516,120 (GRCm39) |
S1237G |
probably damaging |
Het |
| Atf6 |
G |
A |
1: 170,627,283 (GRCm39) |
P394S |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C4bp |
G |
A |
1: 130,583,722 (GRCm39) |
T82I |
probably damaging |
Het |
| Cask |
A |
T |
X: 13,418,686 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,379,073 (GRCm39) |
S2906T |
probably damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,828 (GRCm39) |
F103L |
probably benign |
Het |
| Chrnb3 |
A |
T |
8: 27,876,834 (GRCm39) |
T83S |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,949,510 (GRCm39) |
T607A |
probably benign |
Het |
| Cplane1 |
G |
T |
15: 8,299,262 (GRCm39) |
R3150M |
unknown |
Het |
| Cplane1 |
G |
T |
15: 8,299,263 (GRCm39) |
R3150S |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,504,440 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,770,307 (GRCm39) |
Y514N |
possibly damaging |
Het |
| Dmrtc1b |
T |
A |
X: 101,757,173 (GRCm39) |
L206Q |
probably benign |
Het |
| Dus3l |
C |
T |
17: 57,075,363 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm6356 |
C |
T |
14: 6,973,735 (GRCm38) |
G27E |
probably damaging |
Het |
| Hkdc1 |
C |
T |
10: 62,235,970 (GRCm39) |
|
probably null |
Het |
| Jkampl |
A |
G |
6: 73,446,103 (GRCm39) |
Y149H |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,835,866 (GRCm39) |
V21E |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,648,480 (GRCm39) |
T75S |
possibly damaging |
Het |
| Lemd2 |
A |
G |
17: 27,412,184 (GRCm39) |
|
probably benign |
Het |
| Magee1 |
G |
T |
X: 104,166,945 (GRCm39) |
R910L |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,307,092 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,823,639 (GRCm39) |
E207V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,917 (GRCm39) |
S75P |
probably damaging |
Het |
| Or7a38 |
A |
G |
10: 78,753,250 (GRCm39) |
D192G |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,180,217 (GRCm39) |
V1026A |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,953,870 (GRCm39) |
L942P |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,883,387 (GRCm39) |
L45Q |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,736 (GRCm39) |
M69K |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,502,447 (GRCm39) |
T824A |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,835,885 (GRCm39) |
S308P |
probably damaging |
Het |
| Shisal2b |
T |
A |
13: 105,000,118 (GRCm39) |
Y35F |
probably benign |
Het |
| Smr2 |
A |
T |
5: 88,256,489 (GRCm39) |
I56F |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,831,607 (GRCm39) |
R873H |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation