Incidental Mutation 'IGL01953:Relb'
ID |
181356 |
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: 0.931)
|
Stock # |
IGL01953
|
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 19349482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049912]
[ENSMUST00000094762]
[ENSMUST00000098754]
[ENSMUST00000141586]
[ENSMUST00000208087]
[ENSMUST00000153309]
|
AlphaFold |
Q04863 |
Predicted Effect |
probably null
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 benign
Transcript: ENSMUST00000141586
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148040
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153309
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anks3 |
G |
A |
16: 4,778,408 (GRCm39) |
A8V |
probably damaging |
Het |
Atp6v0a4 |
A |
G |
6: 38,031,552 (GRCm39) |
S650P |
probably damaging |
Het |
B3glct |
C |
A |
5: 149,669,000 (GRCm39) |
D311E |
probably benign |
Het |
Cc2d1a |
G |
A |
8: 84,870,607 (GRCm39) |
P119S |
probably benign |
Het |
Cdcp3 |
T |
C |
7: 130,826,709 (GRCm39) |
M261T |
probably benign |
Het |
Chdh |
T |
C |
14: 29,757,304 (GRCm39) |
V409A |
probably benign |
Het |
Cipc |
T |
A |
12: 86,999,538 (GRCm39) |
V4E |
possibly damaging |
Het |
Dock2 |
G |
T |
11: 34,623,183 (GRCm39) |
T70K |
probably benign |
Het |
Dpf1 |
T |
C |
7: 29,013,732 (GRCm39) |
V269A |
probably damaging |
Het |
Drc7 |
A |
T |
8: 95,785,753 (GRCm39) |
Y203F |
probably damaging |
Het |
Dsg3 |
C |
T |
18: 20,658,361 (GRCm39) |
T324I |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Iqcd |
A |
T |
5: 120,738,554 (GRCm39) |
N124I |
probably benign |
Het |
Kdm7a |
T |
C |
6: 39,123,836 (GRCm39) |
N776S |
probably benign |
Het |
Lama5 |
C |
T |
2: 179,832,497 (GRCm39) |
R1684H |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,741,497 (GRCm39) |
V406D |
probably damaging |
Het |
Lrrc74a |
T |
A |
12: 86,788,494 (GRCm39) |
L158Q |
probably damaging |
Het |
Mef2d |
C |
T |
3: 88,063,813 (GRCm39) |
T80I |
probably damaging |
Het |
Megf11 |
T |
C |
9: 64,597,370 (GRCm39) |
C681R |
probably damaging |
Het |
Mex3c |
A |
G |
18: 73,723,104 (GRCm39) |
D399G |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,614,073 (GRCm39) |
T435A |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,702,838 (GRCm39) |
Y10H |
possibly damaging |
Het |
Or12d13 |
T |
C |
17: 37,647,766 (GRCm39) |
D119G |
probably damaging |
Het |
Or4k40 |
A |
G |
2: 111,250,657 (GRCm39) |
L213P |
probably benign |
Het |
Otoa |
T |
A |
7: 120,759,548 (GRCm39) |
|
probably null |
Het |
P4ha2 |
T |
C |
11: 54,004,996 (GRCm39) |
F124S |
probably benign |
Het |
Phkg2 |
C |
T |
7: 127,181,512 (GRCm39) |
P232S |
probably damaging |
Het |
Piezo1 |
T |
A |
8: 123,217,923 (GRCm39) |
Q800L |
probably damaging |
Het |
Pign |
C |
A |
1: 105,516,764 (GRCm39) |
|
probably benign |
Het |
Pik3r5 |
A |
G |
11: 68,384,997 (GRCm39) |
D634G |
probably benign |
Het |
Ptpn9 |
A |
G |
9: 56,964,072 (GRCm39) |
T402A |
possibly damaging |
Het |
Scgb1b30 |
A |
G |
7: 33,799,302 (GRCm39) |
Q78R |
probably damaging |
Het |
Sema6a |
C |
T |
18: 47,423,187 (GRCm39) |
W273* |
probably null |
Het |
Sestd1 |
A |
G |
2: 77,042,813 (GRCm39) |
V247A |
possibly damaging |
Het |
Specc1 |
T |
A |
11: 62,009,122 (GRCm39) |
S293T |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,799,721 (GRCm39) |
D2145G |
probably benign |
Het |
Trim43b |
T |
A |
9: 88,967,496 (GRCm39) |
D380V |
possibly damaging |
Het |
Vmn1r236 |
A |
G |
17: 21,507,473 (GRCm39) |
Y197C |
possibly damaging |
Het |
Vmn1r79 |
A |
G |
7: 11,910,382 (GRCm39) |
Y88C |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r61 |
G |
A |
7: 41,949,613 (GRCm39) |
V678M |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,042,894 (GRCm39) |
Y1937* |
probably null |
Het |
|
Other mutations in Relb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Relb
|
APN |
7 |
19,356,849 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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 |
2014-05-07 |