Incidental Mutation 'R4382:Rnf41'
| ID |
325383 |
| 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 |
041679-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4382 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128247526-128277310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128272392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 140
(S140P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096386]
[ENSMUST00000171342]
[ENSMUST00000217826]
[ENSMUST00000218371]
|
| AlphaFold |
Q8BH75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096386
AA Change: S140P
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
AA Change: S140P
| 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 benign
Transcript: ENSMUST00000171342
AA Change: S140P
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
AA Change: S140P
| 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 |
silent
Transcript: ENSMUST00000218371
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,281,596 (GRCm39) |
T399S |
possibly damaging |
Het |
| Acp2 |
T |
C |
2: 91,038,454 (GRCm39) |
S309P |
possibly damaging |
Het |
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,650,449 (GRCm39) |
V772A |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Ccdc92b |
G |
A |
11: 74,520,842 (GRCm39) |
S48N |
probably damaging |
Het |
| Ceacam12 |
C |
T |
7: 17,799,959 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,466,483 (GRCm39) |
M1L |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,496,407 (GRCm39) |
T300A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,538,023 (GRCm39) |
Y2514* |
probably null |
Het |
| Col6a6 |
G |
A |
9: 105,660,889 (GRCm39) |
R407W |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,459,288 (GRCm39) |
I1273T |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,402,012 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
A |
T |
10: 59,733,321 (GRCm39) |
K372N |
probably benign |
Het |
| Fhl5 |
A |
C |
4: 25,200,118 (GRCm39) |
C239G |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Glrb |
T |
A |
3: 80,786,946 (GRCm39) |
R72S |
probably damaging |
Het |
| Gm6811 |
T |
C |
17: 21,314,865 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
| Hk2 |
A |
T |
6: 82,712,322 (GRCm39) |
L542Q |
probably null |
Het |
| Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
| Kel |
T |
A |
6: 41,675,334 (GRCm39) |
T306S |
probably benign |
Het |
| Lpo |
T |
C |
11: 87,713,027 (GRCm39) |
D25G |
probably benign |
Het |
| Mboat7 |
T |
A |
7: 3,691,545 (GRCm39) |
Y109F |
possibly damaging |
Het |
| Myh15 |
T |
G |
16: 48,963,306 (GRCm39) |
N1082K |
probably benign |
Het |
| Nagk |
A |
G |
6: 83,774,993 (GRCm39) |
E90G |
probably benign |
Het |
| Nagpa |
A |
T |
16: 5,021,819 (GRCm39) |
F10I |
possibly damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,998 (GRCm39) |
L226H |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,939,122 (GRCm39) |
C2051S |
probably damaging |
Het |
| Ptpn6 |
A |
G |
6: 124,704,361 (GRCm39) |
V315A |
possibly damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,997,055 (GRCm39) |
V1206I |
possibly damaging |
Het |
| Scgb2b12 |
T |
A |
7: 32,024,870 (GRCm39) |
E112D |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,083,273 (GRCm39) |
M210L |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,493,596 (GRCm39) |
R1672G |
possibly damaging |
Het |
| Smc5 |
A |
G |
19: 23,246,210 (GRCm39) |
S70P |
probably benign |
Het |
| Spen |
C |
T |
4: 141,200,450 (GRCm39) |
G2703S |
possibly damaging |
Het |
| Stard9 |
C |
G |
2: 120,464,703 (GRCm39) |
A56G |
probably damaging |
Het |
| Wtap |
A |
G |
17: 13,194,307 (GRCm39) |
S87P |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,765,938 (GRCm39) |
S1488R |
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 |
|
|
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 |
|
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'- CCCATGCTGTTTTGTGGGTAAAAG -3'
(R):5'- ACGGGTTCCCTACTGAACTG -3'
Sequencing Primer
(F):5'- TGTGGGTAAAAGTTCTATATAAGGGC -3'
(R):5'- GGTTCCCTACTGAACTGCCGAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation