Incidental Mutation 'R0038:Rnf32'
| ID |
18593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf32
|
| Ensembl Gene |
ENSMUSG00000029130 |
| Gene Name |
ring finger protein 32 |
| Synonyms |
4930542N22Rik, 2700025B22Rik, 1700009J01Rik, Lmbr2 |
| MMRRC Submission |
038332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R0038 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
29400990-29433455 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 29410652 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 |
- 1x: 83.6%
- 3x: 76.1%
- 10x: 58.6%
- 20x: 40.4%
|
| Validation Efficiency |
91% (67/74) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,896 (GRCm39) |
T253A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,429,992 (GRCm39) |
M892K |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
| Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
| Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,127 (GRCm39) |
L305P |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
| Gramd1b |
G |
A |
9: 40,228,822 (GRCm39) |
T252M |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
| Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
| Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
| Krtap9-5 |
G |
A |
11: 99,839,428 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,272 (GRCm39) |
E723V |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,446,726 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 84,006,714 (GRCm39) |
Y90H |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
| Rnf168 |
T |
C |
16: 32,117,813 (GRCm39) |
V458A |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
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 |
|
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 |
|
|
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 |
2013-03-25 |
Incidental Mutation