Incidental Mutation 'IGL01338:Relb'
| ID |
278287 |
| 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 # |
IGL01338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19340142-19363352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19350298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 218
(I218V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049912]
[ENSMUST00000094762]
[ENSMUST00000098754]
[ENSMUST00000141586]
[ENSMUST00000153309]
[ENSMUST00000208087]
|
| AlphaFold |
Q04863 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049912
AA Change: I218V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
AA Change: I218V
| 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 benign
Transcript: ENSMUST00000094762
AA Change: I221V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
AA Change: I221V
| 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 benign
Transcript: ENSMUST00000098754
AA Change: I221V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
AA Change: I221V
| 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 |
noncoding transcript
Transcript: ENSMUST00000148040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153309
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208087
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
G |
1: 63,591,014 (GRCm39) |
T494A |
possibly damaging |
Het |
| Adamts16 |
C |
T |
13: 70,984,234 (GRCm39) |
C143Y |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,232,581 (GRCm39) |
I195V |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,392,896 (GRCm39) |
S17P |
probably benign |
Het |
| Cfap298 |
T |
C |
16: 90,722,936 (GRCm39) |
N266S |
possibly damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,951,640 (GRCm39) |
S48C |
possibly damaging |
Het |
| Cyp2b19 |
G |
T |
7: 26,458,842 (GRCm39) |
M138I |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,518,611 (GRCm39) |
Y510C |
possibly damaging |
Het |
| Derl2 |
A |
G |
11: 70,901,181 (GRCm39) |
F229S |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,949,979 (GRCm39) |
E452G |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,180,214 (GRCm39) |
K180E |
probably benign |
Het |
| Dus1l |
G |
A |
11: 120,683,918 (GRCm39) |
R177C |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,813,020 (GRCm39) |
I167V |
probably damaging |
Het |
| Fam219b |
A |
T |
9: 57,445,305 (GRCm39) |
|
probably null |
Het |
| Fn1 |
T |
C |
1: 71,665,369 (GRCm39) |
E916G |
probably damaging |
Het |
| Gm2058 |
C |
T |
7: 39,238,580 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd1 |
T |
A |
15: 99,616,056 (GRCm39) |
V22E |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,377,475 (GRCm39) |
F124L |
probably damaging |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,336 (GRCm39) |
|
probably benign |
Het |
| Igfbp3 |
A |
T |
11: 7,158,478 (GRCm39) |
F262I |
possibly damaging |
Het |
| Klhl18 |
A |
G |
9: 110,284,501 (GRCm39) |
Y62H |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,064,268 (GRCm39) |
E1238K |
probably benign |
Het |
| Man1b1 |
A |
G |
2: 25,228,239 (GRCm39) |
K170E |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,147,382 (GRCm39) |
I39N |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,026,587 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
C |
A |
7: 99,462,629 (GRCm39) |
G365W |
probably damaging |
Het |
| Nipal3 |
A |
C |
4: 135,199,194 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
A |
G |
12: 89,221,804 (GRCm39) |
I528V |
possibly damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,730 (GRCm39) |
H71L |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,103,608 (GRCm39) |
K204R |
probably damaging |
Het |
| Pax8 |
A |
G |
2: 24,325,931 (GRCm39) |
S318P |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,590 (GRCm39) |
N242Y |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,786,259 (GRCm39) |
K649* |
probably null |
Het |
| Ppm1n |
A |
T |
7: 19,013,179 (GRCm39) |
D257E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,052,796 (GRCm39) |
E811G |
probably damaging |
Het |
| Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
| Rtkn2 |
G |
T |
10: 67,861,349 (GRCm39) |
C258F |
possibly damaging |
Het |
| Scn11a |
G |
A |
9: 119,613,227 (GRCm39) |
|
probably benign |
Het |
| Snx8 |
G |
A |
5: 140,343,851 (GRCm39) |
R96C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,107,000 (GRCm39) |
T5649S |
possibly damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,344,970 (GRCm39) |
C82* |
probably null |
Het |
| Tnpo2 |
T |
C |
8: 85,767,155 (GRCm39) |
L55P |
probably damaging |
Het |
| Tsc22d2 |
T |
C |
3: 58,324,836 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
G |
6: 113,371,690 (GRCm39) |
V19G |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,119 (GRCm39) |
I86V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,814,892 (GRCm39) |
T3153I |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,636 (GRCm39) |
I753T |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation