Incidental Mutation 'IGL01077:Raet1e'
| ID |
52060 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Raet1e
|
| Ensembl Gene |
ENSMUSG00000053219 |
| Gene Name |
retinoic acid early transcript 1E |
| Synonyms |
Rae-1 epsilon |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.670)
|
| Stock # |
IGL01077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
22034441-22059820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22057219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 181
(L181S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065527]
[ENSMUST00000105522]
[ENSMUST00000178026]
[ENSMUST00000180648]
[ENSMUST00000181645]
|
| AlphaFold |
Q9CZQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065527
AA Change: L181S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066627
Gene: ENSMUSG00000053219
AA Change: L181S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
202 |
1e-121 |
PFAM |
|
low complexity region
|
209 |
229 |
N/A |
INTRINSIC |
|
transmembrane domain
|
233 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105522
|
| SMART Domains |
Protein: ENSMUSP00000101161
Gene: ENSMUSG00000075297
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
PDB:4G59|B
|
29 |
195 |
2e-9 |
PDB |
|
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178026
AA Change: L181S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
AA Change: L181S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
202 |
7.3e-112 |
PFAM |
|
low complexity region
|
209 |
229 |
N/A |
INTRINSIC |
|
transmembrane domain
|
233 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180648
|
| SMART Domains |
Protein: ENSMUSP00000137946
Gene: ENSMUSG00000053219
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
66 |
3.8e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181645
AA Change: L181S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138022
Gene: ENSMUSG00000053219
AA Change: L181S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
202 |
1e-121 |
PFAM |
|
low complexity region
|
209 |
229 |
N/A |
INTRINSIC |
|
transmembrane domain
|
233 |
250 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,096,569 (GRCm39) |
|
probably benign |
Het |
| Arhgap4 |
A |
G |
X: 72,943,699 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
G |
10: 50,525,413 (GRCm39) |
|
probably benign |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Car10 |
T |
C |
11: 93,487,969 (GRCm39) |
I222T |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,804,054 (GRCm39) |
V55M |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,597 (GRCm39) |
Y422F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,108,220 (GRCm39) |
E185G |
probably benign |
Het |
| Dtx2 |
T |
A |
5: 136,058,057 (GRCm39) |
M454K |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
| Ganc |
C |
T |
2: 120,276,996 (GRCm39) |
T686M |
possibly damaging |
Het |
| Gm53 |
C |
T |
11: 96,142,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gria3 |
T |
C |
X: 40,677,369 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
G |
T |
17: 34,367,587 (GRCm39) |
A3S |
probably damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,366,694 (GRCm39) |
Y42C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,051,023 (GRCm39) |
I184K |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,454,042 (GRCm39) |
E343G |
probably damaging |
Het |
| Nap1l2 |
T |
C |
X: 102,228,922 (GRCm39) |
D332G |
probably benign |
Het |
| Npr1 |
T |
G |
3: 90,365,669 (GRCm39) |
D628A |
probably damaging |
Het |
| Rnf43 |
G |
T |
11: 87,622,718 (GRCm39) |
M606I |
probably benign |
Het |
| Serpinb6b |
G |
A |
13: 33,162,049 (GRCm39) |
D283N |
possibly damaging |
Het |
| Slit2 |
A |
G |
5: 48,374,785 (GRCm39) |
|
probably null |
Het |
| Supt5 |
C |
T |
7: 28,023,213 (GRCm39) |
W323* |
probably null |
Het |
| Svep1 |
T |
A |
4: 58,068,760 (GRCm39) |
I3009F |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tll1 |
T |
C |
8: 64,523,266 (GRCm39) |
Y482C |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,970,035 (GRCm39) |
T985I |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,071,359 (GRCm39) |
K180R |
probably damaging |
Het |
|
| Other mutations in Raet1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02406:Raet1e
|
APN |
10 |
22,056,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02484:Raet1e
|
APN |
10 |
22,056,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0049:Raet1e
|
UTSW |
10 |
22,056,761 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0238:Raet1e
|
UTSW |
10 |
22,056,761 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0238:Raet1e
|
UTSW |
10 |
22,056,761 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0239:Raet1e
|
UTSW |
10 |
22,056,761 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0639:Raet1e
|
UTSW |
10 |
22,050,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0885:Raet1e
|
UTSW |
10 |
22,057,986 (GRCm39) |
unclassified |
probably benign |
|
|
R3704:Raet1e
|
UTSW |
10 |
22,056,744 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4764:Raet1e
|
UTSW |
10 |
22,057,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Raet1e
|
UTSW |
10 |
22,057,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Raet1e
|
UTSW |
10 |
22,050,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Raet1e
|
UTSW |
10 |
22,057,990 (GRCm39) |
makesense |
probably null |
|
|
R6034:Raet1e
|
UTSW |
10 |
22,057,990 (GRCm39) |
makesense |
probably null |
|
|
R6077:Raet1e
|
UTSW |
10 |
22,057,887 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6238:Raet1e
|
UTSW |
10 |
22,056,770 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6408:Raet1e
|
UTSW |
10 |
22,056,645 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6939:Raet1e
|
UTSW |
10 |
22,050,256 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7147:Raet1e
|
UTSW |
10 |
22,057,179 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8026:Raet1e
|
UTSW |
10 |
22,057,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8771:Raet1e
|
UTSW |
10 |
22,057,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Raet1e
|
UTSW |
10 |
22,057,872 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1088:Raet1e
|
UTSW |
10 |
22,057,850 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2013-06-21 |
Incidental Mutation