Incidental Mutation 'R3878:Relb'
| ID |
276945 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3878 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19340142-19363352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19351769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 115
(H115Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049912]
[ENSMUST00000094762]
[ENSMUST00000098754]
[ENSMUST00000141586]
[ENSMUST00000153309]
[ENSMUST00000208087]
|
| AlphaFold |
Q04863 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049912
AA Change: H169Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
AA Change: H169Y
| 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 damaging
Transcript: ENSMUST00000094762
AA Change: H172Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
AA Change: H172Y
| 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 damaging
Transcript: ENSMUST00000098754
AA Change: H172Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
AA Change: H172Y
| 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 damaging
Transcript: ENSMUST00000141586
AA Change: H115Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153309
AA Change: H115Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208087
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
C |
T |
2: 130,247,560 (GRCm39) |
T32M |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,531,324 (GRCm39) |
S915G |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,025,642 (GRCm39) |
|
probably null |
Het |
| Atosb |
T |
G |
4: 43,035,867 (GRCm39) |
H288P |
probably damaging |
Het |
| Cadm2 |
C |
T |
16: 66,612,329 (GRCm39) |
E78K |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,484,506 (GRCm39) |
P416L |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,845 (GRCm39) |
F661S |
probably damaging |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,653,048 (GRCm39) |
I403T |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,620,423 (GRCm39) |
R237G |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,148,150 (GRCm39) |
|
probably null |
Het |
| Frs2 |
A |
C |
10: 116,914,815 (GRCm39) |
S35A |
probably benign |
Het |
| Gpr155 |
C |
T |
2: 73,198,736 (GRCm39) |
W394* |
probably null |
Het |
| Ift140 |
G |
A |
17: 25,247,918 (GRCm39) |
V259M |
probably benign |
Het |
| Igkv9-124 |
A |
T |
6: 67,919,191 (GRCm39) |
S74T |
probably benign |
Het |
| Krt14 |
C |
T |
11: 100,097,915 (GRCm39) |
V123M |
possibly damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,398,063 (GRCm39) |
T457A |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,349,362 (GRCm38) |
|
noncoding transcript |
Het |
| Nsa2 |
C |
G |
13: 97,268,542 (GRCm39) |
G175A |
probably benign |
Het |
| Or8k40 |
T |
C |
2: 86,584,972 (GRCm39) |
T37A |
probably benign |
Het |
| Pax1 |
A |
T |
2: 147,204,228 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,262 (GRCm39) |
E1291G |
probably benign |
Het |
| Rnase10 |
A |
G |
14: 51,246,889 (GRCm39) |
E52G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,202,289 (GRCm39) |
V614I |
probably benign |
Het |
| Slc20a2 |
T |
C |
8: 23,058,399 (GRCm39) |
L645P |
possibly damaging |
Het |
| Smoc2 |
A |
G |
17: 14,545,879 (GRCm39) |
D56G |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,247,782 (GRCm39) |
S789P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,030,401 (GRCm39) |
|
probably null |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,152 (GRCm39) |
V169A |
probably damaging |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,322 (GRCm39) |
T86I |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,941,708 (GRCm39) |
D886G |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,259,321 (GRCm39) |
I1003M |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,096,828 (GRCm39) |
V777A |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,364 (GRCm39) |
D11856G |
possibly damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,260 (GRCm39) |
D164V |
possibly damaging |
Het |
| Vmn1r34 |
G |
A |
6: 66,614,552 (GRCm39) |
T62I |
possibly damaging |
Het |
| Wapl |
T |
C |
14: 34,414,104 (GRCm39) |
L322P |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,105,960 (GRCm39) |
D17G |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAGATGCCCCATGACCTG -3'
(R):5'- CGCCTTCGCATAGATTAGTGATG -3'
Sequencing Primer
(F):5'- CCATGACCTGGGCTTTCC -3'
(R):5'- CGCATAGATTAGTGATGTTAAGCC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation