Incidental Mutation 'IGL03072:Reep4'
| ID |
417553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Reep4
|
| Ensembl Gene |
ENSMUSG00000033589 |
| Gene Name |
receptor accessory protein 4 |
| Synonyms |
2700029E10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
IGL03072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70782691-70786373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70785675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 238
(S238P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047218]
[ENSMUST00000226563]
|
| AlphaFold |
Q8K072 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047218
AA Change: S202P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040162
Gene: ENSMUSG00000033589
AA Change: S202P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TB2_DP1_HVA22
|
7 |
95 |
4e-36 |
PFAM |
|
low complexity region
|
129 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226556
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226563
AA Change: S238P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228444
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
G |
A |
13: 77,408,116 (GRCm39) |
V148I |
probably benign |
Het |
| Ahcyl2 |
T |
C |
6: 29,906,500 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,983,872 (GRCm39) |
S1719P |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,025,609 (GRCm39) |
I196T |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,474 (GRCm39) |
I849V |
probably benign |
Het |
| Cpsf3 |
A |
G |
12: 21,345,089 (GRCm39) |
K134E |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,602,979 (GRCm39) |
T161A |
probably benign |
Het |
| Gm17093 |
G |
T |
14: 44,758,129 (GRCm39) |
|
probably benign |
Het |
| Igf2bp2 |
A |
G |
16: 21,886,891 (GRCm39) |
|
probably null |
Het |
| Lcor |
T |
C |
19: 41,547,253 (GRCm39) |
V279A |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,716,725 (GRCm39) |
T475K |
possibly damaging |
Het |
| Nat8f4 |
A |
G |
6: 85,877,836 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,714 (GRCm39) |
T344A |
probably benign |
Het |
| Or6c203 |
A |
T |
10: 129,010,358 (GRCm39) |
D177E |
probably damaging |
Het |
| Or7c19 |
A |
G |
8: 85,957,139 (GRCm39) |
N5S |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,804 (GRCm39) |
M118K |
probably damaging |
Het |
| Pde8a |
A |
T |
7: 80,958,557 (GRCm39) |
I312F |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,793 (GRCm39) |
I74T |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,216,004 (GRCm39) |
|
probably benign |
Het |
| Psg29 |
T |
C |
7: 16,942,719 (GRCm39) |
V240A |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,020,318 (GRCm39) |
N99K |
possibly damaging |
Het |
| Tph1 |
G |
A |
7: 46,302,283 (GRCm39) |
T313M |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,154,530 (GRCm39) |
S611P |
probably damaging |
Het |
| Upp2 |
G |
T |
2: 58,645,435 (GRCm39) |
|
probably null |
Het |
| Vezt |
C |
A |
10: 93,809,895 (GRCm39) |
A549S |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,798,177 (GRCm39) |
Y254H |
probably benign |
Het |
|
| Other mutations in Reep4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02963:Reep4
|
APN |
14 |
70,785,410 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0504:Reep4
|
UTSW |
14 |
70,784,678 (GRCm39) |
splice site |
probably null |
|
|
R5298:Reep4
|
UTSW |
14 |
70,785,637 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6265:Reep4
|
UTSW |
14 |
70,785,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Reep4
|
UTSW |
14 |
70,783,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7509:Reep4
|
UTSW |
14 |
70,785,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8041:Reep4
|
UTSW |
14 |
70,785,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8319:Reep4
|
UTSW |
14 |
70,783,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8469:Reep4
|
UTSW |
14 |
70,783,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9691:Reep4
|
UTSW |
14 |
70,785,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation