Incidental Mutation 'IGL01591:Rnf32'
| ID |
91601 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf32
|
| Ensembl Gene |
ENSMUSG00000029130 |
| Gene Name |
ring finger protein 32 |
| Synonyms |
4930542N22Rik, 2700025B22Rik, 1700009J01Rik, Lmbr2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL01591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
29400990-29433455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29429272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 283
(I283N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001247]
[ENSMUST00000160246]
[ENSMUST00000160383]
[ENSMUST00000168460]
|
| AlphaFold |
Q9JIT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001247
AA Change: I283N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001247
Gene: ENSMUSG00000029130
AA Change: I283N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
RING
|
129 |
170 |
4.8e-7 |
SMART |
|
IQ
|
187 |
209 |
1.23e-1 |
SMART |
|
RING
|
295 |
357 |
3.84e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160246
AA Change: I283N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124657
Gene: ENSMUSG00000029130
AA Change: I283N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
RING
|
129 |
170 |
4.8e-7 |
SMART |
|
IQ
|
187 |
209 |
1.23e-1 |
SMART |
|
RING
|
295 |
357 |
3.84e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160383
|
| SMART Domains |
Protein: ENSMUSP00000125515
Gene: ENSMUSG00000029130
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162975
|
| SMART Domains |
Protein: ENSMUSP00000123952
Gene: ENSMUSG00000029130
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
70 |
N/A |
INTRINSIC |
|
RING
|
92 |
133 |
4.8e-7 |
SMART |
|
IQ
|
150 |
172 |
1.23e-1 |
SMART |
|
RING
|
202 |
264 |
3.84e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163050
|
| SMART Domains |
Protein: ENSMUSP00000125528
Gene: ENSMUSG00000029130
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168460
AA Change: I283N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132213
Gene: ENSMUSG00000029130
AA Change: I283N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
RING
|
129 |
170 |
4.8e-7 |
SMART |
|
IQ
|
187 |
209 |
1.23e-1 |
SMART |
|
RING
|
295 |
357 |
3.84e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
G |
T |
11: 84,134,146 (GRCm39) |
G420W |
probably damaging |
Het |
| Adamts17 |
G |
A |
7: 66,654,144 (GRCm39) |
R458H |
probably damaging |
Het |
| Adprs |
T |
C |
4: 126,212,274 (GRCm39) |
T82A |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,809,900 (GRCm39) |
I203L |
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,096,735 (GRCm39) |
S47R |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,165,077 (GRCm39) |
T1016A |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,580,295 (GRCm39) |
I95F |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,812,291 (GRCm39) |
|
probably benign |
Het |
| Dsel |
A |
G |
1: 111,787,425 (GRCm39) |
Y1037H |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,337,485 (GRCm39) |
D898G |
probably damaging |
Het |
| Esr2 |
T |
A |
12: 76,168,498 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
A |
4: 148,647,344 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,064,524 (GRCm39) |
R4827* |
probably null |
Het |
| Gm11596 |
A |
T |
11: 99,683,624 (GRCm39) |
C165* |
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,115,901 (GRCm39) |
S852P |
probably benign |
Het |
| Mcm3ap |
C |
T |
10: 76,306,639 (GRCm39) |
P251S |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,917,825 (GRCm39) |
V388A |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,678,877 (GRCm39) |
T364A |
possibly damaging |
Het |
| Rarb |
T |
A |
14: 16,434,207 (GRCm38) |
I370F |
possibly damaging |
Het |
| Smg8 |
A |
G |
11: 86,975,979 (GRCm39) |
V77A |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,953,144 (GRCm39) |
E632G |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,849,604 (GRCm39) |
S1487T |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,753 (GRCm39) |
K72R |
probably benign |
Het |
| Vmn2r92 |
A |
G |
17: 18,405,423 (GRCm39) |
I856V |
unknown |
Het |
|
| Other mutations in Rnf32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01786:Rnf32
|
APN |
5 |
29,411,812 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02832:Rnf32
|
APN |
5 |
29,410,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02976:Rnf32
|
APN |
5 |
29,411,710 (GRCm39) |
splice site |
probably null |
|
|
R0038:Rnf32
|
UTSW |
5 |
29,410,652 (GRCm39) |
unclassified |
probably benign |
|
|
R0038:Rnf32
|
UTSW |
5 |
29,410,652 (GRCm39) |
unclassified |
probably benign |
|
|
R0070:Rnf32
|
UTSW |
5 |
29,430,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1812:Rnf32
|
UTSW |
5 |
29,411,258 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2279:Rnf32
|
UTSW |
5 |
29,430,278 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4903:Rnf32
|
UTSW |
5 |
29,403,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4964:Rnf32
|
UTSW |
5 |
29,403,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4966:Rnf32
|
UTSW |
5 |
29,403,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5155:Rnf32
|
UTSW |
5 |
29,408,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Rnf32
|
UTSW |
5 |
29,408,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Rnf32
|
UTSW |
5 |
29,411,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6374:Rnf32
|
UTSW |
5 |
29,430,266 (GRCm39) |
nonsense |
probably null |
|
|
R7627:Rnf32
|
UTSW |
5 |
29,402,948 (GRCm39) |
start gained |
probably benign |
|
|
R9161:Rnf32
|
UTSW |
5 |
29,408,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Rnf32
|
UTSW |
5 |
29,411,211 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9457:Rnf32
|
UTSW |
5 |
29,411,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Rnf32
|
UTSW |
5 |
29,429,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Rnf32
|
UTSW |
5 |
29,429,125 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Rnf32
|
UTSW |
5 |
29,430,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation