Incidental Mutation 'IGL01341:Relb'
| ID |
278291 |
| 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 # |
IGL01341
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
| Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
| Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
| Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
| Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
| Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
| Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
| Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
| Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
| Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
| Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
| Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
| Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
| Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
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 |
|
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