Incidental Mutation 'IGL02157:Rhbdd3'
| ID |
282287 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhbdd3
|
| Ensembl Gene |
ENSMUSG00000034175 |
| Gene Name |
rhomboid domain containing 3 |
| Synonyms |
5730411O18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL02157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5048926-5056093 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 5055424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036320]
[ENSMUST00000062821]
[ENSMUST00000101610]
[ENSMUST00000109878]
[ENSMUST00000139742]
[ENSMUST00000134267]
[ENSMUST00000148761]
[ENSMUST00000150632]
[ENSMUST00000163299]
|
| AlphaFold |
Q8BP97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036320
|
| SMART Domains |
Protein: ENSMUSP00000044703
Gene: ENSMUSG00000034175
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid
|
44 |
185 |
2.2e-7 |
PFAM |
|
SCOP:d1ifya_
|
308 |
351 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062821
|
| SMART Domains |
Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
34 |
101 |
8.7e-18 |
PFAM |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
267 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
282 |
342 |
5e-10 |
PFAM |
|
Pfam:Collagen
|
312 |
377 |
4.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101610
|
| SMART Domains |
Protein: ENSMUSP00000099131
Gene: ENSMUSG00000034175
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid
|
44 |
187 |
2.5e-7 |
PFAM |
|
Pfam:UBA
|
323 |
358 |
3.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109878
|
| SMART Domains |
Protein: ENSMUSP00000105504
Gene: ENSMUSG00000034175
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid
|
44 |
187 |
2e-7 |
PFAM |
|
SCOP:d1ifya_
|
318 |
361 |
2e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132328
|
| SMART Domains |
Protein: ENSMUSP00000117779
Gene: ENSMUSG00000034164
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
44 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
59 |
113 |
4.5e-10 |
PFAM |
|
Pfam:Collagen
|
89 |
152 |
2e-13 |
PFAM |
|
low complexity region
|
154 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153308
|
| SMART Domains |
Protein: ENSMUSP00000125605
Gene: ENSMUSG00000034164
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
1 |
49 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151906
|
| SMART Domains |
Protein: ENSMUSP00000124014
Gene: ENSMUSG00000034164
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
2 |
68 |
8.4e-14 |
PFAM |
|
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134267
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148761
|
| SMART Domains |
Protein: ENSMUSP00000120264
Gene: ENSMUSG00000034175
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid
|
44 |
187 |
3.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163299
|
| SMART Domains |
Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
33 |
101 |
7.3e-24 |
PFAM |
|
low complexity region
|
198 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
265 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
280 |
340 |
5.1e-10 |
PFAM |
|
Pfam:Collagen
|
310 |
375 |
4.3e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered stimulated NK cell activation and acute inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,855,487 (GRCm39) |
|
probably benign |
Het |
| Amotl1 |
A |
T |
9: 14,483,011 (GRCm39) |
|
probably benign |
Het |
| Amph |
A |
T |
13: 19,288,401 (GRCm39) |
T297S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,444,263 (GRCm39) |
V198A |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,772 (GRCm39) |
D216G |
possibly damaging |
Het |
| Cdh13 |
T |
C |
8: 119,232,410 (GRCm39) |
I38T |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,177 (GRCm39) |
T457A |
probably benign |
Het |
| Clstn2 |
A |
C |
9: 97,423,928 (GRCm39) |
M279R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fam83h |
A |
T |
15: 75,876,904 (GRCm39) |
V208E |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,894 (GRCm39) |
N785S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,378,589 (GRCm39) |
L225P |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,374 (GRCm39) |
V325M |
possibly damaging |
Het |
| Glis1 |
A |
G |
4: 107,484,758 (GRCm39) |
T418A |
probably benign |
Het |
| Hook2 |
C |
T |
8: 85,727,779 (GRCm39) |
|
probably benign |
Het |
| Hoxa6 |
C |
A |
6: 52,185,171 (GRCm39) |
C145F |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,168,987 (GRCm39) |
V1156A |
probably benign |
Het |
| Mon2 |
G |
A |
10: 122,849,377 (GRCm39) |
P1308S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,924,613 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,219,385 (GRCm39) |
L867* |
probably null |
Het |
| Oca2 |
G |
A |
7: 55,974,545 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
T |
A |
7: 140,072,847 (GRCm39) |
C99S |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,019 (GRCm39) |
E165G |
probably damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,370 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,947 (GRCm39) |
C359S |
probably damaging |
Het |
| Timeless |
T |
A |
10: 128,078,255 (GRCm39) |
V255E |
probably benign |
Het |
| Tmt1b |
T |
G |
10: 128,796,486 (GRCm39) |
T108P |
possibly damaging |
Het |
| Trh |
A |
T |
6: 92,219,948 (GRCm39) |
S123T |
probably benign |
Het |
| Ugdh |
C |
T |
5: 65,580,035 (GRCm39) |
A252T |
probably damaging |
Het |
| Zfp619 |
A |
G |
7: 39,184,288 (GRCm39) |
Y106C |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,924 (GRCm39) |
P564S |
unknown |
Het |
|
| Other mutations in Rhbdd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02376:Rhbdd3
|
APN |
11 |
5,053,192 (GRCm39) |
unclassified |
probably benign |
|
|
R1387:Rhbdd3
|
UTSW |
11 |
5,054,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1438:Rhbdd3
|
UTSW |
11 |
5,053,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Rhbdd3
|
UTSW |
11 |
5,049,460 (GRCm39) |
unclassified |
probably benign |
|
|
R4278:Rhbdd3
|
UTSW |
11 |
5,055,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4554:Rhbdd3
|
UTSW |
11 |
5,055,946 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4809:Rhbdd3
|
UTSW |
11 |
5,055,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5594:Rhbdd3
|
UTSW |
11 |
5,055,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Rhbdd3
|
UTSW |
11 |
5,055,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7863:Rhbdd3
|
UTSW |
11 |
5,053,236 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7876:Rhbdd3
|
UTSW |
11 |
5,055,832 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8138:Rhbdd3
|
UTSW |
11 |
5,054,303 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation