Incidental Mutation 'IGL03032:Rnf38'
| ID |
408501 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf38
|
| Ensembl Gene |
ENSMUSG00000035696 |
| Gene Name |
ring finger protein 38 |
| Synonyms |
2610202O07Rik, 1700065B19Rik, Oip1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.588)
|
| Stock # |
IGL03032
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
44126210-44233789 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44152529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 12
(R12G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045793]
[ENSMUST00000098098]
[ENSMUST00000102934]
[ENSMUST00000107836]
[ENSMUST00000128426]
[ENSMUST00000143337]
[ENSMUST00000136730]
[ENSMUST00000145760]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045793
|
| SMART Domains |
Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
310 |
N/A |
INTRINSIC |
|
RING
|
380 |
420 |
9.09e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098098
AA Change: R12G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696
AA Change: R12G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
342 |
N/A |
INTRINSIC |
|
RING
|
412 |
452 |
9.09e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102934
|
| SMART Domains |
Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
310 |
N/A |
INTRINSIC |
|
RING
|
380 |
420 |
9.09e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107836
|
| SMART Domains |
Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
310 |
N/A |
INTRINSIC |
|
RING
|
380 |
420 |
9.09e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123844
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128426
|
| SMART Domains |
Protein: ENSMUSP00000119889
Gene: ENSMUSG00000035696
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143337
|
| SMART Domains |
Protein: ENSMUSP00000122342
Gene: ENSMUSG00000035696
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136730
|
| SMART Domains |
Protein: ENSMUSP00000116642
Gene: ENSMUSG00000035696
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145760
|
| SMART Domains |
Protein: ENSMUSP00000121329
Gene: ENSMUSG00000035696
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
202 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,774 (GRCm39) |
Y177F |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,255,189 (GRCm39) |
|
probably benign |
Het |
| Arhgap44 |
A |
G |
11: 64,915,038 (GRCm39) |
L410P |
probably damaging |
Het |
| Atp13a2 |
C |
T |
4: 140,727,666 (GRCm39) |
A481V |
possibly damaging |
Het |
| Bod1l |
C |
A |
5: 41,988,927 (GRCm39) |
L393F |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,780,179 (GRCm39) |
I258N |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,244,458 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
T |
4: 128,412,834 (GRCm39) |
N2542I |
probably benign |
Het |
| Cyp2b9 |
T |
C |
7: 25,898,025 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
A |
T |
13: 9,601,814 (GRCm39) |
I258F |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,854,585 (GRCm39) |
S1560P |
probably benign |
Het |
| Drc7 |
C |
T |
8: 95,802,875 (GRCm39) |
|
probably benign |
Het |
| Gm3667 |
T |
A |
14: 18,269,522 (GRCm39) |
S203C |
probably null |
Het |
| Gramd2a |
A |
G |
9: 59,619,410 (GRCm39) |
E190G |
probably benign |
Het |
| Gstm4 |
T |
C |
3: 107,951,263 (GRCm39) |
D8G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,928 (GRCm39) |
M1820K |
probably benign |
Het |
| Irs4 |
A |
G |
X: 140,505,794 (GRCm39) |
Y801H |
unknown |
Het |
| Loxhd1 |
C |
T |
18: 77,374,169 (GRCm39) |
T80I |
possibly damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip1 |
T |
G |
2: 92,216,958 (GRCm39) |
K446Q |
probably damaging |
Het |
| Mettl21e |
C |
A |
1: 44,249,319 (GRCm39) |
|
probably null |
Het |
| Mmp8 |
T |
A |
9: 7,558,530 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
A |
T |
15: 91,808,424 (GRCm39) |
|
noncoding transcript |
Het |
| Nipsnap3b |
T |
A |
4: 53,015,016 (GRCm39) |
V21E |
possibly damaging |
Het |
| Or1j15 |
C |
A |
2: 36,458,716 (GRCm39) |
Y35* |
probably null |
Het |
| Or5al6 |
A |
G |
2: 85,977,043 (GRCm39) |
F12L |
probably damaging |
Het |
| Or7a38 |
A |
T |
10: 78,753,471 (GRCm39) |
I266F |
probably benign |
Het |
| Parp12 |
G |
A |
6: 39,064,520 (GRCm39) |
|
probably null |
Het |
| Pramel14 |
C |
A |
4: 143,719,815 (GRCm39) |
L183F |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,948 (GRCm39) |
T169S |
possibly damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,363,624 (GRCm39) |
|
probably benign |
Het |
| Slpi |
T |
C |
2: 164,197,367 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
G |
A |
5: 31,353,355 (GRCm39) |
V165I |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,357 (GRCm39) |
V570A |
probably benign |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,350 (GRCm39) |
M94T |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,575 (GRCm39) |
I771V |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,575,532 (GRCm39) |
V868A |
probably benign |
Het |
|
| Other mutations in Rnf38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01073:Rnf38
|
APN |
4 |
44,137,645 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01992:Rnf38
|
APN |
4 |
44,138,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02682:Rnf38
|
APN |
4 |
44,133,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Rnf38
|
APN |
4 |
44,129,619 (GRCm39) |
nonsense |
probably null |
|
|
IGL03326:Rnf38
|
APN |
4 |
44,149,182 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0335:Rnf38
|
UTSW |
4 |
44,152,507 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0336:Rnf38
|
UTSW |
4 |
44,152,350 (GRCm39) |
splice site |
probably benign |
|
|
R1473:Rnf38
|
UTSW |
4 |
44,131,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1552:Rnf38
|
UTSW |
4 |
44,142,468 (GRCm39) |
splice site |
probably null |
|
|
R1670:Rnf38
|
UTSW |
4 |
44,138,681 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1708:Rnf38
|
UTSW |
4 |
44,143,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Rnf38
|
UTSW |
4 |
44,138,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2063:Rnf38
|
UTSW |
4 |
44,149,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4348:Rnf38
|
UTSW |
4 |
44,149,100 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4352:Rnf38
|
UTSW |
4 |
44,149,100 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4353:Rnf38
|
UTSW |
4 |
44,149,100 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4618:Rnf38
|
UTSW |
4 |
44,142,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Rnf38
|
UTSW |
4 |
44,152,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Rnf38
|
UTSW |
4 |
44,149,176 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6275:Rnf38
|
UTSW |
4 |
44,152,408 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6855:Rnf38
|
UTSW |
4 |
44,149,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Rnf38
|
UTSW |
4 |
44,137,620 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7326:Rnf38
|
UTSW |
4 |
44,158,989 (GRCm39) |
intron |
probably benign |
|
|
R7351:Rnf38
|
UTSW |
4 |
44,149,102 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8728:Rnf38
|
UTSW |
4 |
44,131,615 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8969:Rnf38
|
UTSW |
4 |
44,149,079 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9313:Rnf38
|
UTSW |
4 |
44,143,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation