Incidental Mutation 'IGL02400:2610028H24Rik'
| ID |
291852 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
2610028H24Rik
|
| Ensembl Gene |
ENSMUSG00000009114 |
| Gene Name |
RIKEN cDNA 2610028H24 gene |
| Synonyms |
ORF67 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
76284915-76296944 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76290644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 128
(I128V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049185]
[ENSMUST00000092406]
[ENSMUST00000105415]
|
| AlphaFold |
G5E8K1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049185
|
| SMART Domains |
Protein: ENSMUSP00000045647
Gene: ENSMUSG00000033126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0054
|
8 |
148 |
7.6e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092406
AA Change: I149V
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090061
Gene: ENSMUSG00000009114
AA Change: I149V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
140 |
N/A |
INTRINSIC |
|
Pfam:DUF4587
|
145 |
216 |
7.6e-33 |
PFAM |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105415
AA Change: I128V
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101055
Gene: ENSMUSG00000009114
AA Change: I128V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
119 |
N/A |
INTRINSIC |
|
Pfam:DUF4587
|
124 |
195 |
4.4e-34 |
PFAM |
|
low complexity region
|
202 |
214 |
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 |
|---|
| Arfgef3 |
G |
T |
10: 18,522,005 (GRCm39) |
Q674K |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,798,849 (GRCm39) |
N851K |
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,070 (GRCm39) |
C471R |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,276,534 (GRCm39) |
K544M |
probably benign |
Het |
| Erbb3 |
A |
C |
10: 128,415,393 (GRCm39) |
N385K |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,160,589 (GRCm39) |
R1388G |
probably damaging |
Het |
| Gm10720 |
C |
A |
9: 3,016,900 (GRCm39) |
|
probably null |
Het |
| Gm20489 |
A |
T |
X: 100,306,944 (GRCm39) |
N328K |
possibly damaging |
Het |
| Gm5828 |
G |
T |
1: 16,840,042 (GRCm39) |
|
noncoding transcript |
Het |
| Gnaq |
T |
C |
19: 16,293,492 (GRCm39) |
Y145H |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,083,938 (GRCm39) |
D148G |
probably damaging |
Het |
| Myc |
T |
G |
15: 61,861,760 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,635 (GRCm39) |
V144A |
probably benign |
Het |
| Or5m3b |
A |
T |
2: 85,872,420 (GRCm39) |
I254F |
probably benign |
Het |
| Or6c211 |
A |
G |
10: 129,505,752 (GRCm39) |
V212A |
probably damaging |
Het |
| Padi3 |
T |
G |
4: 140,516,179 (GRCm39) |
K567T |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,111,748 (GRCm39) |
T1576A |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,291,728 (GRCm39) |
R1316G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,130 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
G |
A |
10: 8,609,411 (GRCm39) |
R713* |
probably null |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,276 (GRCm39) |
C42S |
possibly damaging |
Het |
| Tpp1 |
A |
G |
7: 105,396,238 (GRCm39) |
I487T |
possibly damaging |
Het |
| Trim43a |
T |
A |
9: 88,464,165 (GRCm39) |
N25K |
probably benign |
Het |
| Tuft1 |
T |
C |
3: 94,542,809 (GRCm39) |
|
probably benign |
Het |
| Usp46 |
T |
C |
5: 74,197,713 (GRCm39) |
H26R |
probably benign |
Het |
| Zfp560 |
A |
T |
9: 20,261,896 (GRCm39) |
I85N |
possibly damaging |
Het |
|
| Other mutations in 2610028H24Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02951:2610028H24Rik
|
APN |
10 |
76,290,536 (GRCm39) |
splice site |
probably benign |
|
|
PIT4283001:2610028H24Rik
|
UTSW |
10 |
76,285,093 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R0013:2610028H24Rik
|
UTSW |
10 |
76,293,346 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0295:2610028H24Rik
|
UTSW |
10 |
76,290,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2018:2610028H24Rik
|
UTSW |
10 |
76,293,899 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2019:2610028H24Rik
|
UTSW |
10 |
76,293,899 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2128:2610028H24Rik
|
UTSW |
10 |
76,293,349 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2129:2610028H24Rik
|
UTSW |
10 |
76,293,349 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4776:2610028H24Rik
|
UTSW |
10 |
76,293,346 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5638:2610028H24Rik
|
UTSW |
10 |
76,288,729 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5808:2610028H24Rik
|
UTSW |
10 |
76,286,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:2610028H24Rik
|
UTSW |
10 |
76,288,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5990:2610028H24Rik
|
UTSW |
10 |
76,285,123 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6238:2610028H24Rik
|
UTSW |
10 |
76,285,096 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6505:2610028H24Rik
|
UTSW |
10 |
76,285,115 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7741:2610028H24Rik
|
UTSW |
10 |
76,290,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9210:2610028H24Rik
|
UTSW |
10 |
76,287,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9558:2610028H24Rik
|
UTSW |
10 |
76,290,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:2610028H24Rik
|
UTSW |
10 |
76,293,925 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:2610028H24Rik
|
UTSW |
10 |
76,288,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation