Incidental Mutation 'R1137:Rfwd3'
| ID |
95175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfwd3
|
| Ensembl Gene |
ENSMUSG00000033596 |
| Gene Name |
ring finger and WD repeat domain 3 |
| Synonyms |
|
| MMRRC Submission |
039210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
R1137 (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: 94.1%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,256 (GRCm39) |
S54T |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,789,424 (GRCm39) |
T222A |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,760 (GRCm39) |
K1561E |
probably benign |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,676,446 (GRCm39) |
V78A |
probably damaging |
Het |
| Clec4n |
G |
A |
6: 123,223,526 (GRCm39) |
M170I |
possibly damaging |
Het |
| Cp |
G |
T |
3: 20,033,116 (GRCm39) |
A648S |
probably benign |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dnah8 |
A |
G |
17: 31,074,910 (GRCm39) |
D4543G |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,370 (GRCm39) |
V477A |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,885,205 (GRCm39) |
S245P |
probably benign |
Het |
| Fkbp9 |
G |
T |
6: 56,837,682 (GRCm39) |
G312V |
probably damaging |
Het |
| Htr4 |
A |
G |
18: 62,570,624 (GRCm39) |
I226M |
probably damaging |
Het |
| Impa2 |
G |
A |
18: 67,451,497 (GRCm39) |
V264I |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,914,486 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,515,981 (GRCm39) |
V2621F |
possibly damaging |
Het |
| Lif |
A |
G |
11: 4,219,237 (GRCm39) |
D172G |
probably damaging |
Het |
| Llgl1 |
C |
A |
11: 60,595,559 (GRCm39) |
H82N |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,162,273 (GRCm39) |
I162M |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,694,511 (GRCm39) |
I1078N |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,137,745 (GRCm39) |
T196S |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,464,634 (GRCm39) |
L657P |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Ppp1cb |
T |
C |
5: 32,645,015 (GRCm39) |
M55T |
probably damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,159,697 (GRCm39) |
M1078T |
possibly damaging |
Het |
| Rarg |
T |
C |
15: 102,149,595 (GRCm39) |
T125A |
probably damaging |
Het |
| Slc5a7 |
G |
A |
17: 54,600,039 (GRCm39) |
R125C |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tigit |
G |
T |
16: 43,469,485 (GRCm39) |
T202N |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,860,606 (GRCm39) |
A617V |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,938,400 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,768,659 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,852,422 (GRCm39) |
D846V |
probably damaging |
Het |
| Vmn1r16 |
T |
G |
6: 57,300,221 (GRCm39) |
N134H |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCAGGGATCGGGCATAAATGAC -3'
(R):5'- TGTTTAAGGCTCCACCTCAGACACC -3'
Sequencing Primer
(F):5'- TGACAACGATGTCACTGTGC -3'
(R):5'- Acacccccatccccacc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation