Incidental Mutation 'IGL02682:Rnf38'
| ID |
303387 |
| 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: 0.559)
|
| Stock # |
IGL02682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
44126210-44233789 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44133745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 376
(A376V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045793]
[ENSMUST00000098098]
[ENSMUST00000102934]
[ENSMUST00000107836]
[ENSMUST00000136730]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045793
AA Change: A344V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696
AA Change: A344V
| 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: A376V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696
AA Change: A376V
| 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 damaging
Transcript: ENSMUST00000102934
AA Change: A344V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696
AA Change: A344V
| 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: ENSMUST00000107836
AA Change: A344V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696
AA Change: A344V
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000145378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152216
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
A |
G |
2: 58,367,823 (GRCm39) |
S113P |
probably benign |
Het |
| Arhgdib |
A |
T |
6: 136,901,166 (GRCm39) |
W188R |
probably damaging |
Het |
| Bcr |
T |
A |
10: 75,001,878 (GRCm39) |
N927K |
possibly damaging |
Het |
| Cd209c |
A |
G |
8: 3,990,324 (GRCm39) |
Y165H |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,750,515 (GRCm39) |
K102E |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,623 (GRCm39) |
E600G |
probably damaging |
Het |
| Ddx4 |
A |
T |
13: 112,758,720 (GRCm39) |
H280Q |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,498 (GRCm39) |
Y462C |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,728,576 (GRCm39) |
I94F |
probably damaging |
Het |
| Gm4846 |
C |
A |
1: 166,322,195 (GRCm39) |
G124V |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,797,469 (GRCm39) |
I108T |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,691 (GRCm39) |
M51K |
probably benign |
Het |
| Hck |
A |
G |
2: 152,976,054 (GRCm39) |
I198V |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,924 (GRCm39) |
C209* |
probably null |
Het |
| Klhl1 |
T |
A |
14: 96,438,778 (GRCm39) |
I507F |
possibly damaging |
Het |
| Knl1 |
A |
T |
2: 118,908,450 (GRCm39) |
K1693N |
possibly damaging |
Het |
| Mcam |
T |
C |
9: 44,051,714 (GRCm39) |
V490A |
possibly damaging |
Het |
| Mrgprx1 |
A |
T |
7: 47,671,740 (GRCm39) |
D2E |
probably damaging |
Het |
| Mtg1 |
T |
C |
7: 139,724,642 (GRCm39) |
|
probably benign |
Het |
| Myof |
C |
A |
19: 37,909,929 (GRCm39) |
R1512L |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,810,996 (GRCm39) |
T679I |
probably benign |
Het |
| Nwd2 |
C |
A |
5: 63,962,020 (GRCm39) |
L535I |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,962,021 (GRCm39) |
L535H |
probably damaging |
Het |
| Or4f14b |
T |
A |
2: 111,775,285 (GRCm39) |
N172I |
probably damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,221 (GRCm39) |
I138F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,652,033 (GRCm39) |
S155P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,602,275 (GRCm39) |
*41W |
probably null |
Het |
| Prl5a1 |
T |
A |
13: 28,329,403 (GRCm39) |
N27K |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,358,708 (GRCm39) |
T1292A |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,216,580 (GRCm39) |
V117A |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,517 (GRCm39) |
F707L |
probably damaging |
Het |
| Snx16 |
G |
A |
3: 10,503,235 (GRCm39) |
P4L |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,801,130 (GRCm39) |
D289G |
probably damaging |
Het |
| St8sia3 |
G |
T |
18: 64,402,750 (GRCm39) |
V130F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,363,704 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,791,272 (GRCm39) |
F273L |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,507 (GRCm39) |
R834S |
possibly damaging |
Het |
| Vmn2r18 |
G |
T |
5: 151,508,102 (GRCm39) |
H341N |
probably damaging |
Het |
| Vrk3 |
A |
G |
7: 44,403,244 (GRCm39) |
I2V |
probably benign |
Het |
| Zglp1 |
A |
G |
9: 20,977,534 (GRCm39) |
S94P |
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 |
|
IGL02951:Rnf38
|
APN |
4 |
44,129,619 (GRCm39) |
nonsense |
probably null |
|
|
IGL03032:Rnf38
|
APN |
4 |
44,152,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation