Incidental Mutation 'IGL02011:Raet1d'
| ID |
183354 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Raet1d
|
| Ensembl Gene |
ENSMUSG00000078452 |
| Gene Name |
retinoic acid early transcript delta |
| Synonyms |
RAE-1delta |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
22236451-22250038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22247473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 183
(I183K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095795]
[ENSMUST00000178026]
[ENSMUST00000182677]
|
| AlphaFold |
Q9JI58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095795
AA Change: I183K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093471
Gene: ENSMUSG00000078452
AA Change: I183K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
200 |
2.6e-110 |
PFAM |
|
low complexity region
|
207 |
227 |
N/A |
INTRINSIC |
|
transmembrane domain
|
231 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178026
|
| SMART Domains |
Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
| 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 damaging
Transcript: ENSMUST00000182677
AA Change: I183K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138328
Gene: ENSMUSG00000078452
AA Change: I183K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
200 |
5.4e-119 |
PFAM |
|
low complexity region
|
207 |
227 |
N/A |
INTRINSIC |
|
transmembrane domain
|
231 |
248 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
A |
14: 49,318,592 (GRCm39) |
|
probably benign |
Het |
| Arg1 |
T |
C |
10: 24,792,275 (GRCm39) |
T215A |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 43,670,767 (GRCm39) |
K50N |
probably damaging |
Het |
| Ctdsp1 |
C |
T |
1: 74,433,175 (GRCm39) |
|
probably benign |
Het |
| Cwc22 |
A |
T |
2: 77,751,366 (GRCm39) |
D363E |
possibly damaging |
Het |
| Drd2 |
G |
T |
9: 49,318,258 (GRCm39) |
C400F |
probably damaging |
Het |
| Eef1akmt1 |
A |
T |
14: 57,795,555 (GRCm39) |
Y65N |
probably damaging |
Het |
| Gbp10 |
C |
A |
5: 105,368,967 (GRCm39) |
G291W |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,280 (GRCm39) |
V536E |
probably damaging |
Het |
| Or4d1 |
C |
A |
11: 87,805,708 (GRCm39) |
W8L |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,056 (GRCm39) |
R265L |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,621 (GRCm39) |
Y127N |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,414,473 (GRCm39) |
G884D |
probably damaging |
Het |
| Pih1d1 |
G |
T |
7: 44,806,156 (GRCm39) |
A31S |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,454 (GRCm39) |
D317G |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,717,565 (GRCm39) |
F231S |
probably damaging |
Het |
| Scaper |
A |
G |
9: 55,487,606 (GRCm39) |
F752S |
probably damaging |
Het |
| Shisa9 |
C |
T |
16: 12,062,502 (GRCm39) |
T241I |
possibly damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,437,565 (GRCm39) |
V365E |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,421,554 (GRCm39) |
S3077F |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,283,399 (GRCm39) |
I566V |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,421,717 (GRCm39) |
T414S |
probably benign |
Het |
| Xpnpep1 |
A |
T |
19: 52,990,896 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,087,035 (GRCm39) |
Q288R |
probably damaging |
Het |
|
| Other mutations in Raet1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Raet1d
|
APN |
10 |
22,246,791 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
FR4340:Raet1d
|
UTSW |
10 |
22,247,458 (GRCm39) |
missense |
probably benign |
|
|
FR4342:Raet1d
|
UTSW |
10 |
22,247,458 (GRCm39) |
missense |
probably benign |
|
|
FR4449:Raet1d
|
UTSW |
10 |
22,246,814 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Raet1d
|
UTSW |
10 |
22,246,817 (GRCm39) |
nonsense |
probably null |
|
|
PIT4434001:Raet1d
|
UTSW |
10 |
22,247,433 (GRCm39) |
nonsense |
probably null |
|
|
R0241:Raet1d
|
UTSW |
10 |
22,247,328 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0241:Raet1d
|
UTSW |
10 |
22,247,328 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0280:Raet1d
|
UTSW |
10 |
22,246,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0790:Raet1d
|
UTSW |
10 |
22,246,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1671:Raet1d
|
UTSW |
10 |
22,238,614 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
|
R1901:Raet1d
|
UTSW |
10 |
22,247,350 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2018:Raet1d
|
UTSW |
10 |
22,246,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Raet1d
|
UTSW |
10 |
22,247,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Raet1d
|
UTSW |
10 |
22,246,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7661:Raet1d
|
UTSW |
10 |
22,248,156 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8385:Raet1d
|
UTSW |
10 |
22,246,817 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-05-07 |
Incidental Mutation