Incidental Mutation 'IGL00227:Relb'
| ID |
2361 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Relb
|
| Ensembl Gene |
ENSMUSG00000002983 |
| Gene Name |
avian reticuloendotheliosis viral (v-rel) oncogene related B |
| Synonyms |
shep |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
IGL00227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19340142-19363352 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 19356849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049912]
[ENSMUST00000094762]
[ENSMUST00000098754]
[ENSMUST00000141586]
[ENSMUST00000208087]
[ENSMUST00000153309]
|
| AlphaFold |
Q04863 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049912
|
| SMART Domains |
Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
102 |
270 |
1.3e-65 |
PFAM |
|
IPT
|
277 |
373 |
1.26e-24 |
SMART |
|
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094762
|
| SMART Domains |
Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RelB_leu_zip
|
1 |
84 |
1.2e-43 |
PFAM |
|
Pfam:RHD_DNA_bind
|
105 |
273 |
3.7e-66 |
PFAM |
|
IPT
|
280 |
376 |
1.26e-24 |
SMART |
|
Pfam:RelB_transactiv
|
381 |
558 |
3.2e-98 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098754
|
| SMART Domains |
Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
85 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
105 |
273 |
3.7e-66 |
PFAM |
|
IPT
|
280 |
376 |
1.26e-24 |
SMART |
|
low complexity region
|
452 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137615
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208087
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148040
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutant homozygotes die prematurely with phenotypes including inflammatory cell infiltration of organs, myeloid hyperplasia, splenomegaly, reduction in thymic dendritic cells, impaired cellular immunity, hyperkeratosis, epidermal hyperplasia, or hepatitiswith mononuclear infiltration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
A |
17: 84,995,957 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,654,946 (GRCm39) |
E2695G |
probably damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,162,016 (GRCm39) |
N246D |
probably benign |
Het |
| Ces1h |
A |
T |
8: 94,079,098 (GRCm39) |
M495K |
unknown |
Het |
| Chga |
A |
G |
12: 102,529,058 (GRCm39) |
E345G |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,875,129 (GRCm39) |
F43L |
probably benign |
Het |
| Ctu1 |
C |
A |
7: 43,324,928 (GRCm39) |
F122L |
possibly damaging |
Het |
| Cwf19l2 |
C |
A |
9: 3,409,990 (GRCm39) |
Q40K |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 91,614,853 (GRCm39) |
I264T |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,008,853 (GRCm39) |
V1974M |
probably damaging |
Het |
| Foxf2 |
C |
A |
13: 31,810,172 (GRCm39) |
P37Q |
unknown |
Het |
| Gtf2e2 |
T |
C |
8: 34,266,473 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
C |
A |
4: 116,857,785 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,857,786 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,857,784 (GRCm39) |
|
probably benign |
Het |
| Ift122 |
A |
T |
6: 115,894,018 (GRCm39) |
H901L |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,664,846 (GRCm39) |
|
probably null |
Het |
| Krt84 |
C |
A |
15: 101,436,208 (GRCm39) |
M460I |
probably benign |
Het |
| Moxd1 |
C |
T |
10: 24,158,491 (GRCm39) |
H382Y |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,409,511 (GRCm39) |
T311S |
probably damaging |
Het |
| Or1p1 |
C |
T |
11: 74,179,952 (GRCm39) |
T160I |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,724 (GRCm39) |
T270I |
probably benign |
Het |
| Pbk |
T |
C |
14: 66,051,340 (GRCm39) |
I126T |
probably damaging |
Het |
| Pde1b |
C |
T |
15: 103,435,107 (GRCm39) |
S400F |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,965 (GRCm39) |
C300S |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,573,808 (GRCm39) |
R419W |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,053 (GRCm39) |
L33P |
probably damaging |
Het |
| Ralb |
T |
A |
1: 119,403,770 (GRCm39) |
D119V |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,507,323 (GRCm39) |
D609V |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,315,342 (GRCm39) |
T377A |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,291,374 (GRCm39) |
T367A |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,263,623 (GRCm39) |
L807P |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,060,818 (GRCm39) |
E2051* |
probably null |
Het |
| St6galnac1 |
T |
C |
11: 116,658,532 (GRCm39) |
I311V |
probably damaging |
Het |
|
| Other mutations in Relb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Relb
|
APN |
7 |
19,350,336 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01338:Relb
|
APN |
7 |
19,350,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01340:Relb
|
APN |
7 |
19,350,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01341:Relb
|
APN |
7 |
19,350,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01576:Relb
|
APN |
7 |
19,346,526 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01672:Relb
|
APN |
7 |
19,345,619 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01953:Relb
|
APN |
7 |
19,349,482 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02792:Relb
|
APN |
7 |
19,347,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Relb
|
APN |
7 |
19,346,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0940:Relb
|
UTSW |
7 |
19,345,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Relb
|
UTSW |
7 |
19,347,686 (GRCm39) |
splice site |
probably null |
|
|
R3878:Relb
|
UTSW |
7 |
19,351,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Relb
|
UTSW |
7 |
19,361,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4795:Relb
|
UTSW |
7 |
19,353,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Relb
|
UTSW |
7 |
19,349,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5330:Relb
|
UTSW |
7 |
19,340,630 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7252:Relb
|
UTSW |
7 |
19,346,538 (GRCm39) |
nonsense |
probably null |
|
|
R7648:Relb
|
UTSW |
7 |
19,353,767 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8818:Relb
|
UTSW |
7 |
19,353,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Relb
|
UTSW |
7 |
19,345,799 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9148:Relb
|
UTSW |
7 |
19,350,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Relb
|
UTSW |
7 |
19,346,592 (GRCm39) |
missense |
probably benign |
0.22 |
|
X0066:Relb
|
UTSW |
7 |
19,353,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2011-12-09 |
Incidental Mutation