Incidental Mutation 'R6060:Rnf32'
ID |
483180 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf32
|
Ensembl Gene |
ENSMUSG00000029130 |
Gene Name |
ring finger protein 32 |
Synonyms |
4930542N22Rik, 2700025B22Rik, 1700009J01Rik, Lmbr2 |
MMRRC Submission |
044426-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R6060 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
29400990-29433455 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29411752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 214
(I214L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001247]
[ENSMUST00000160246]
[ENSMUST00000160383]
[ENSMUST00000160888]
[ENSMUST00000161398]
[ENSMUST00000168460]
[ENSMUST00000198669]
|
AlphaFold |
Q9JIT1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001247
AA Change: I214L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000001247 Gene: ENSMUSG00000029130 AA Change: I214L
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
AA Change: I214L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000124657 Gene: ENSMUSG00000029130 AA Change: I214L
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 |
unknown
Transcript: ENSMUST00000162975
AA Change: I176L
|
SMART Domains |
Protein: ENSMUSP00000123952 Gene: ENSMUSG00000029130 AA Change: I176L
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
AA Change: I214L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000132213 Gene: ENSMUSG00000029130 AA Change: I214L
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (56/56) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110057P08Rik |
A |
G |
16: 88,966,630 (GRCm39) |
|
probably null |
Het |
Adh1 |
T |
C |
3: 137,992,544 (GRCm39) |
I220T |
probably damaging |
Het |
Ajap1 |
G |
A |
4: 153,516,699 (GRCm39) |
T214I |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,749,601 (GRCm39) |
F476S |
probably damaging |
Het |
Atp6v1g3 |
A |
G |
1: 138,201,582 (GRCm39) |
K27E |
possibly damaging |
Het |
BC034090 |
A |
G |
1: 155,117,245 (GRCm39) |
I291T |
probably benign |
Het |
Cnot9 |
T |
A |
1: 74,556,285 (GRCm39) |
N27K |
probably benign |
Het |
Cyp2c70 |
A |
T |
19: 40,153,857 (GRCm39) |
L244* |
probably null |
Het |
Cyp2d22 |
T |
C |
15: 82,260,086 (GRCm39) |
T6A |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,107,799 (GRCm39) |
E1829G |
probably damaging |
Het |
Dnajc4 |
G |
T |
19: 6,968,093 (GRCm39) |
S61* |
probably null |
Het |
Dpysl4 |
A |
G |
7: 138,669,324 (GRCm39) |
M1V |
probably null |
Het |
Fam149a |
T |
A |
8: 45,811,799 (GRCm39) |
|
probably benign |
Het |
Fam184b |
T |
C |
5: 45,710,489 (GRCm39) |
E547G |
probably damaging |
Het |
Fam47e |
T |
A |
5: 92,727,472 (GRCm39) |
F127I |
possibly damaging |
Het |
Ifi207 |
G |
A |
1: 173,558,093 (GRCm39) |
T215I |
unknown |
Het |
Iftap |
T |
C |
2: 101,440,950 (GRCm39) |
K18E |
probably benign |
Het |
Lpxn |
T |
C |
19: 12,810,489 (GRCm39) |
L311P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,640,946 (GRCm39) |
N3499K |
|
Het |
Mknk2 |
A |
T |
10: 80,507,468 (GRCm39) |
D76E |
probably benign |
Het |
Nectin2 |
A |
T |
7: 19,451,700 (GRCm39) |
Y445N |
probably damaging |
Het |
Ngb |
A |
C |
12: 87,146,963 (GRCm39) |
S85A |
probably benign |
Het |
Nrp1 |
C |
A |
8: 129,224,419 (GRCm39) |
H727Q |
probably damaging |
Het |
Or5b112 |
C |
T |
19: 13,319,497 (GRCm39) |
A125V |
probably benign |
Het |
Or6k2 |
C |
A |
1: 173,986,907 (GRCm39) |
C189* |
probably null |
Het |
Pold3 |
A |
C |
7: 99,749,819 (GRCm39) |
Y115* |
probably null |
Het |
Ppp1r12b |
C |
G |
1: 134,883,262 (GRCm39) |
V87L |
probably benign |
Het |
Ppp1r26 |
A |
G |
2: 28,341,042 (GRCm39) |
N224S |
probably benign |
Het |
Prl7a1 |
G |
A |
13: 27,821,571 (GRCm39) |
P122S |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,289,612 (GRCm39) |
H400R |
possibly damaging |
Het |
Safb2 |
A |
T |
17: 56,870,246 (GRCm39) |
|
probably null |
Het |
Serpinb6e |
A |
G |
13: 34,025,256 (GRCm39) |
C12R |
possibly damaging |
Het |
Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
Slc12a4 |
G |
A |
8: 106,672,338 (GRCm39) |
A821V |
probably damaging |
Het |
Slc41a1 |
A |
G |
1: 131,767,972 (GRCm39) |
M179V |
probably benign |
Het |
Slc9a3 |
A |
G |
13: 74,299,004 (GRCm39) |
Y141C |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,522,918 (GRCm39) |
V1450I |
probably damaging |
Het |
Trmt1l |
A |
G |
1: 151,333,331 (GRCm39) |
N642S |
possibly damaging |
Het |
Ttll13 |
G |
A |
7: 79,908,491 (GRCm39) |
R576H |
probably damaging |
Het |
Zar1 |
T |
A |
5: 72,738,272 (GRCm39) |
R43S |
probably benign |
Het |
Zfp455 |
A |
G |
13: 67,355,257 (GRCm39) |
Y175C |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAAGTACTTGTTAAAGAAGGCC -3'
(R):5'- TGGAGGCCATCGAGTTGAAC -3'
Sequencing Primer
(F):5'- AATGTGGCTGTCAACCATCTG -3'
(R):5'- GCCATCGAGTTGAACAAAGC -3'
|
Posted On |
2017-07-14 |