Incidental Mutation 'R1580:Rfwd3'
| ID |
171357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfwd3
|
| Ensembl Gene |
ENSMUSG00000033596 |
| Gene Name |
ring finger and WD repeat domain 3 |
| Synonyms |
|
| MMRRC Submission |
039617-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.599)
|
| Stock # |
R1580 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
| Validation Efficiency |
96% (43/45) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,305,124 (GRCm39) |
V2044I |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,614,279 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
T |
C |
3: 132,839,465 (GRCm39) |
Q526R |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,479,726 (GRCm39) |
N752D |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 100,920,030 (GRCm39) |
I221T |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,355,673 (GRCm39) |
V551A |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,483,040 (GRCm39) |
S74P |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,675 (GRCm39) |
I123V |
probably benign |
Het |
| Brms1l |
A |
T |
12: 55,915,007 (GRCm39) |
K305N |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,252,385 (GRCm39) |
R226C |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,586,122 (GRCm39) |
K147T |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,413,762 (GRCm39) |
R390G |
probably damaging |
Het |
| Clec5a |
G |
T |
6: 40,562,153 (GRCm39) |
H4N |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,975,299 (GRCm39) |
Q2970L |
probably damaging |
Het |
| Cyp2a4 |
T |
C |
7: 26,007,076 (GRCm39) |
I61T |
possibly damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,378,884 (GRCm39) |
K379I |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,378,885 (GRCm39) |
K379E |
probably damaging |
Het |
| Dok2 |
A |
G |
14: 71,014,397 (GRCm39) |
D195G |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,764 (GRCm39) |
E335G |
probably damaging |
Het |
| Gm7361 |
G |
T |
5: 26,462,768 (GRCm39) |
L3F |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,854,620 (GRCm39) |
D50G |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,857,617 (GRCm39) |
V1099A |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,789,021 (GRCm39) |
V71A |
probably benign |
Het |
| Klk10 |
C |
T |
7: 43,432,286 (GRCm39) |
A73V |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,364,239 (GRCm39) |
D711E |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 120,265,639 (GRCm39) |
V303I |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,745,822 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,114,658 (GRCm39) |
E13G |
probably benign |
Het |
| Or6c210 |
G |
T |
10: 129,496,184 (GRCm39) |
V170F |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
| Sbspon |
C |
A |
1: 15,962,692 (GRCm39) |
C62F |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,874,020 (GRCm39) |
|
probably null |
Het |
| Spg7 |
T |
A |
8: 123,816,977 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,437,531 (GRCm39) |
V236A |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,154,117 (GRCm39) |
N62K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,474,746 (GRCm39) |
S761R |
possibly damaging |
Het |
| Zfp580 |
C |
T |
7: 5,056,284 (GRCm39) |
R215C |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,605 (GRCm39) |
D898G |
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 |
|
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 |
|
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 |
2014-04-13 |
Incidental Mutation