Incidental Mutation 'IGL01786:Rnf32'
| ID |
155082 |
| 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: 0.093)
|
| Stock # |
IGL01786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
29400990-29433455 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 29411812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001247]
[ENSMUST00000160246]
[ENSMUST00000160383]
[ENSMUST00000160888]
[ENSMUST00000161398]
[ENSMUST00000168460]
[ENSMUST00000198669]
|
| AlphaFold |
Q9JIT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001247
|
| SMART Domains |
Protein: ENSMUSP00000001247
Gene: ENSMUSG00000029130
| 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: ENSMUST00000160246
|
| SMART Domains |
Protein: ENSMUSP00000124657
Gene: ENSMUSG00000029130
| 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 |
noncoding transcript
Transcript: ENSMUST00000160887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160888
|
| SMART Domains |
Protein: ENSMUSP00000124499
Gene: ENSMUSG00000029130
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161398
|
| SMART Domains |
Protein: ENSMUSP00000125741
Gene: ENSMUSG00000029130
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
90 |
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 |
probably benign
Transcript: ENSMUST00000168460
|
| SMART Domains |
Protein: ENSMUSP00000132213
Gene: ENSMUSG00000029130
| 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: ENSMUST00000198669
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,116,936 (GRCm39) |
T398A |
probably benign |
Het |
| Klra8 |
T |
A |
6: 130,096,031 (GRCm39) |
|
probably null |
Het |
| Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,296,479 (GRCm39) |
D847G |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,179,881 (GRCm39) |
F110L |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
| Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
| Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
Het |
|
| Other mutations in Rnf32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01591:Rnf32
|
APN |
5 |
29,429,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation