Incidental Mutation 'IGL02976:Rnf32'
| ID |
406382 |
| 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 # |
IGL02976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
29400990-29433455 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3628 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 29411710 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 null
Transcript: ENSMUST00000001247
AA Change: R200*
|
| SMART Domains |
Protein: ENSMUSP00000001247
Gene: ENSMUSG00000029130
AA Change: R200*
| 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 null
Transcript: ENSMUST00000160246
AA Change: R200*
|
| SMART Domains |
Protein: ENSMUSP00000124657
Gene: ENSMUSG00000029130
AA Change: R200*
| 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 null
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 null
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 null
Transcript: ENSMUST00000162975
AA Change: R162*
|
| SMART Domains |
Protein: ENSMUSP00000123952
Gene: ENSMUSG00000029130
AA Change: R162*
| 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 null
Transcript: ENSMUST00000168460
AA Change: R200*
|
| SMART Domains |
Protein: ENSMUSP00000132213
Gene: ENSMUSG00000029130
AA Change: R200*
| 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 null
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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
G |
9: 101,816,845 (GRCm39) |
T84A |
possibly damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,208,661 (GRCm39) |
S288T |
probably benign |
Het |
| Ano7 |
T |
A |
1: 93,330,395 (GRCm39) |
D806E |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,444,259 (GRCm39) |
L79P |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,310 (GRCm39) |
C695* |
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,276,534 (GRCm39) |
N610S |
possibly damaging |
Het |
| Cdc40 |
A |
G |
10: 40,758,917 (GRCm39) |
V52A |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,098,331 (GRCm39) |
R369H |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,735,204 (GRCm39) |
P1031L |
probably damaging |
Het |
| Cldn34d |
C |
T |
X: 75,626,690 (GRCm39) |
A121T |
probably benign |
Het |
| Clmp |
A |
C |
9: 40,692,520 (GRCm39) |
Y263S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,104 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,744 (GRCm39) |
R233C |
probably damaging |
Het |
| Gcdh |
A |
C |
8: 85,615,207 (GRCm39) |
Y398D |
probably damaging |
Het |
| Gm26741 |
T |
G |
10: 52,234,910 (GRCm39) |
S16R |
possibly damaging |
Het |
| Jph3 |
T |
A |
8: 122,479,823 (GRCm39) |
L167Q |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,269,192 (GRCm39) |
V407A |
probably benign |
Het |
| Kif17 |
C |
T |
4: 137,996,374 (GRCm39) |
A117V |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Magi2 |
C |
T |
5: 20,739,473 (GRCm39) |
P349S |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,128,224 (GRCm39) |
M177T |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,799,626 (GRCm39) |
K287E |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,356,497 (GRCm39) |
H425L |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,355,084 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
G |
A |
2: 22,434,494 (GRCm39) |
W825* |
probably null |
Het |
| Npas2 |
T |
C |
1: 39,326,565 (GRCm39) |
S17P |
probably damaging |
Het |
| Nrk |
A |
G |
X: 137,892,817 (GRCm39) |
I1174V |
probably benign |
Het |
| Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,337 (GRCm39) |
Y256* |
probably null |
Het |
| Or4k2 |
G |
A |
14: 50,423,889 (GRCm39) |
Q262* |
probably null |
Het |
| Parpbp |
A |
G |
10: 87,947,456 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
T |
C |
3: 45,334,448 (GRCm39) |
V254A |
possibly damaging |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,813,704 (GRCm39) |
V149A |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,615,209 (GRCm39) |
E320G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,936 (GRCm39) |
D448E |
possibly damaging |
Het |
| Rpa1 |
T |
A |
11: 75,203,628 (GRCm39) |
D358V |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,742,668 (GRCm39) |
N747S |
probably damaging |
Het |
| Slc17a4 |
A |
C |
13: 24,089,407 (GRCm39) |
M170R |
probably damaging |
Het |
| Slc5a4a |
G |
A |
10: 76,006,527 (GRCm39) |
V310M |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,974,779 (GRCm39) |
R463H |
probably benign |
Het |
| Spmip5 |
A |
T |
19: 58,777,552 (GRCm39) |
V78E |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt10 |
A |
G |
15: 89,698,682 (GRCm39) |
S221P |
probably benign |
Het |
| Tlk1 |
T |
A |
2: 70,551,935 (GRCm39) |
K579* |
probably null |
Het |
| Tubgcp3 |
T |
C |
8: 12,682,300 (GRCm39) |
Y673C |
probably damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,165 (GRCm39) |
F253S |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,304,832 (GRCm39) |
M14T |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,552,821 (GRCm39) |
D91G |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation