Incidental Mutation 'IGL01885:Rnf41'
| ID |
179088 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf41
|
| Ensembl Gene |
ENSMUSG00000025373 |
| Gene Name |
ring finger protein 41 |
| Synonyms |
4933415P08Rik, Nrdp1, FLRF, 2210404G21Rik, 4930511A05Rik, D10Ertd722e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128247526-128277310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128271344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 85
(N85Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096386]
[ENSMUST00000171342]
[ENSMUST00000217826]
[ENSMUST00000218371]
|
| AlphaFold |
Q8BH75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096386
AA Change: N85Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
AA Change: N85Y
| 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 |
probably damaging
Transcript: ENSMUST00000171342
AA Change: N85Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
AA Change: N85Y
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,774,575 (GRCm39) |
V568A |
possibly damaging |
Het |
| Abcb11 |
T |
A |
2: 69,117,971 (GRCm39) |
Q469L |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,717,731 (GRCm39) |
G264E |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,862 (GRCm39) |
Y788C |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,911,511 (GRCm39) |
F1508I |
possibly damaging |
Het |
| Cd6 |
C |
A |
19: 10,776,601 (GRCm39) |
Q141H |
probably benign |
Het |
| Cercam |
A |
C |
2: 29,771,015 (GRCm39) |
T471P |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,337,301 (GRCm39) |
D729G |
possibly damaging |
Het |
| Dglucy |
T |
A |
12: 100,816,540 (GRCm39) |
F394Y |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,720,004 (GRCm39) |
N512S |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,356,059 (GRCm39) |
C223R |
probably damaging |
Het |
| Gcn1 |
T |
A |
5: 115,714,174 (GRCm39) |
|
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hirip3 |
T |
A |
7: 126,463,381 (GRCm39) |
S446T |
probably benign |
Het |
| Hoxa5 |
A |
T |
6: 52,179,647 (GRCm39) |
F243I |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,981,135 (GRCm39) |
R1840* |
probably null |
Het |
| Lbp |
T |
A |
2: 158,166,493 (GRCm39) |
L349Q |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,331,452 (GRCm39) |
I1604T |
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,144,455 (GRCm39) |
K121E |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,578,521 (GRCm39) |
R1579* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,965,794 (GRCm39) |
D652G |
possibly damaging |
Het |
| Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
| Or5b117 |
G |
A |
19: 13,431,449 (GRCm39) |
T144I |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,760 (GRCm39) |
I184V |
probably benign |
Het |
| Ostm1 |
C |
T |
10: 42,574,147 (GRCm39) |
S280L |
possibly damaging |
Het |
| Peak1 |
C |
T |
9: 56,167,388 (GRCm39) |
R180K |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,947,837 (GRCm39) |
Y515C |
probably benign |
Het |
| Postn |
T |
C |
3: 54,283,455 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
C |
T |
17: 42,814,493 (GRCm39) |
T798I |
probably damaging |
Het |
| Shisa7 |
A |
T |
7: 4,833,825 (GRCm39) |
H323Q |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,951,629 (GRCm39) |
M386K |
probably damaging |
Het |
| St18 |
G |
A |
1: 6,914,596 (GRCm39) |
|
probably null |
Het |
| Stra6 |
T |
A |
9: 58,048,431 (GRCm39) |
L175M |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,057,389 (GRCm39) |
L600P |
probably damaging |
Het |
| Try5 |
G |
T |
6: 41,288,672 (GRCm39) |
N182K |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo7 |
G |
A |
14: 70,903,475 (GRCm39) |
T1078I |
probably benign |
Het |
| Zan |
G |
A |
5: 137,462,386 (GRCm39) |
T931I |
unknown |
Het |
|
| Other mutations in Rnf41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R1690:Rnf41
|
UTSW |
10 |
128,271,329 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation