Incidental Mutation 'IGL01672:Relb'
ID |
103514 |
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 # |
IGL01672
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
19340142-19363352 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19345619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 406
(H406L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049912]
[ENSMUST00000094762]
[ENSMUST00000098754]
[ENSMUST00000208087]
|
AlphaFold |
Q04863 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049912
AA Change: H403L
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000050166 Gene: ENSMUSG00000002983 AA Change: H403L
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: H406L
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000092355 Gene: ENSMUSG00000002983 AA Change: H406L
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: H406L
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000096350 Gene: ENSMUSG00000002983 AA Change: H406L
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 |
noncoding transcript
Transcript: ENSMUST00000148040
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,618,316 (GRCm39) |
E203G |
probably damaging |
Het |
Ano1 |
G |
T |
7: 144,209,412 (GRCm39) |
Q206K |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,894,109 (GRCm39) |
S620T |
probably damaging |
Het |
Arfip1 |
A |
T |
3: 84,455,339 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
A |
T |
14: 59,928,982 (GRCm39) |
M1024K |
probably benign |
Het |
Brap |
T |
C |
5: 121,816,908 (GRCm39) |
|
probably benign |
Het |
Calcrl |
T |
A |
2: 84,175,414 (GRCm39) |
T287S |
probably damaging |
Het |
Clptm1l |
G |
A |
13: 73,755,992 (GRCm39) |
|
probably null |
Het |
Cpb1 |
T |
A |
3: 20,329,585 (GRCm39) |
Q47L |
probably null |
Het |
Cse1l |
T |
C |
2: 166,771,887 (GRCm39) |
I402T |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,932,986 (GRCm39) |
S3591P |
probably damaging |
Het |
Dst |
T |
G |
1: 34,264,774 (GRCm39) |
I2322S |
probably damaging |
Het |
Dync2h1 |
G |
A |
9: 7,118,884 (GRCm39) |
R2194* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,814,041 (GRCm39) |
V1355A |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,931,977 (GRCm39) |
N30S |
possibly damaging |
Het |
Ero1a |
A |
C |
14: 45,529,887 (GRCm39) |
S349A |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,493,737 (GRCm39) |
T3938I |
probably benign |
Het |
Focad |
T |
C |
4: 88,278,827 (GRCm39) |
|
probably null |
Het |
Gnai3 |
A |
T |
3: 108,016,775 (GRCm39) |
I343N |
probably damaging |
Het |
Golph3 |
T |
C |
15: 12,349,643 (GRCm39) |
V221A |
probably benign |
Het |
Gpr153 |
C |
A |
4: 152,364,370 (GRCm39) |
S142* |
probably null |
Het |
Itpr1 |
C |
A |
6: 108,357,993 (GRCm39) |
Y557* |
probably null |
Het |
Nat8f5 |
A |
G |
6: 85,794,934 (GRCm39) |
Y9H |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,429,650 (GRCm39) |
V1045A |
possibly damaging |
Het |
Nol8 |
T |
C |
13: 49,828,883 (GRCm39) |
V1047A |
possibly damaging |
Het |
Or2t48 |
A |
C |
11: 58,419,948 (GRCm39) |
L288R |
probably benign |
Het |
Or5p1 |
T |
A |
7: 107,916,725 (GRCm39) |
V208E |
probably benign |
Het |
Osbpl1a |
G |
A |
18: 12,899,881 (GRCm39) |
T178I |
probably damaging |
Het |
Palld |
T |
A |
8: 62,330,536 (GRCm39) |
I114F |
probably benign |
Het |
Pcca |
A |
T |
14: 122,927,557 (GRCm39) |
Y440F |
probably benign |
Het |
Pclo |
T |
C |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,827,037 (GRCm39) |
M599T |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,807,471 (GRCm39) |
Y189F |
possibly damaging |
Het |
Plscr3 |
A |
G |
11: 69,738,508 (GRCm39) |
K91R |
possibly damaging |
Het |
Rars1 |
A |
T |
11: 35,699,380 (GRCm39) |
C638S |
probably damaging |
Het |
Ros1 |
G |
T |
10: 51,977,899 (GRCm39) |
T1449K |
possibly damaging |
Het |
Samd3 |
A |
T |
10: 26,146,067 (GRCm39) |
N364I |
possibly damaging |
Het |
Scn2a |
T |
A |
2: 65,582,278 (GRCm39) |
I1542N |
probably damaging |
Het |
Sdk1 |
T |
A |
5: 142,170,930 (GRCm39) |
M1931K |
probably benign |
Het |
Sphk2 |
T |
C |
7: 45,361,077 (GRCm39) |
D309G |
possibly damaging |
Het |
Stil |
T |
C |
4: 114,889,986 (GRCm39) |
S825P |
probably damaging |
Het |
Swt1 |
C |
T |
1: 151,270,359 (GRCm39) |
|
probably null |
Het |
Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,338,846 (GRCm39) |
H362Q |
probably benign |
Het |
Zfp451 |
C |
A |
1: 33,801,247 (GRCm39) |
M1056I |
probably benign |
Het |
Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
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 |
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 |
2014-01-21 |