Incidental Mutation 'R1690:Rnf41'
| ID |
191729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf41
|
| Ensembl Gene |
ENSMUSG00000025373 |
| Gene Name |
ring finger protein 41 |
| Synonyms |
4933415P08Rik, Nrdp1, FLRF, 2210404G21Rik, 4930511A05Rik, D10Ertd722e |
| MMRRC Submission |
039723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1690 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128247526-128277310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 128271329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 80
(Q80K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096386]
[ENSMUST00000171342]
[ENSMUST00000217826]
[ENSMUST00000218371]
|
| AlphaFold |
Q8BH75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096386
AA Change: Q80K
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
AA Change: Q80K
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
1.54e-5 |
SMART |
|
Pfam:USP8_interact
|
137 |
315 |
5.1e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157526
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171342
AA Change: Q80K
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
AA Change: Q80K
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
1.54e-5 |
SMART |
|
Pfam:USP8_interact
|
137 |
315 |
2.3e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218371
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
| Csf2rb |
T |
C |
15: 78,232,844 (GRCm39) |
V717A |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
| Dpf2 |
C |
T |
19: 5,955,490 (GRCm39) |
R131Q |
probably damaging |
Het |
| Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
| Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
| Htr3b |
T |
A |
9: 48,848,394 (GRCm39) |
M284L |
possibly damaging |
Het |
| Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
| Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
| Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
| Mettl17 |
T |
A |
14: 52,128,918 (GRCm39) |
V396D |
probably damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
| Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
| Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,693 (GRCm39) |
E250G |
probably benign |
Het |
| Prkcsh |
T |
A |
9: 21,921,871 (GRCm39) |
D245E |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,411,462 (GRCm39) |
T333I |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
| Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
| Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
| Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
| Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
| Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
| Zc3hc1 |
A |
G |
6: 30,390,940 (GRCm39) |
V21A |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
| Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
probably benign |
Het |
|
| Other mutations in Rnf41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01885:Rnf41
|
APN |
10 |
128,271,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02245:Rnf41
|
APN |
10 |
128,273,196 (GRCm39) |
makesense |
probably null |
|
|
IGL03382:Rnf41
|
APN |
10 |
128,274,149 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0158:Rnf41
|
UTSW |
10 |
128,274,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Rnf41
|
UTSW |
10 |
128,274,076 (GRCm39) |
missense |
probably benign |
|
|
R1396:Rnf41
|
UTSW |
10 |
128,271,440 (GRCm39) |
missense |
probably benign |
|
|
R2860:Rnf41
|
UTSW |
10 |
128,274,023 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2861:Rnf41
|
UTSW |
10 |
128,274,023 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2862:Rnf41
|
UTSW |
10 |
128,274,023 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4382:Rnf41
|
UTSW |
10 |
128,272,392 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7477:Rnf41
|
UTSW |
10 |
128,271,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7492:Rnf41
|
UTSW |
10 |
128,274,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Rnf41
|
UTSW |
10 |
128,271,299 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8560:Rnf41
|
UTSW |
10 |
128,274,222 (GRCm39) |
nonsense |
probably null |
|
|
R8691:Rnf41
|
UTSW |
10 |
128,274,077 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9150:Rnf41
|
UTSW |
10 |
128,272,399 (GRCm39) |
missense |
|
|
|
R9515:Rnf41
|
UTSW |
10 |
128,274,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF015:Rnf41
|
UTSW |
10 |
128,271,279 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0021:Rnf41
|
UTSW |
10 |
128,273,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCTGTCCTTGATTGTGAGCCCTG -3'
(R):5'- GCCCATGTCTGAATGGAGTGGAAG -3'
Sequencing Primer
(F):5'- ATTGTGAGCCCTGGACCTC -3'
(R):5'- TGGAAGGAGGAATCTCACCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation