Incidental Mutation 'IGL01107:1700001O22Rik'
| ID |
50530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
1700001O22Rik
|
| Ensembl Gene |
ENSMUSG00000044320 |
| Gene Name |
RIKEN cDNA 1700001O22 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30684781-30693673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30687948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 215
(F215Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050003]
|
| AlphaFold |
A2APZ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050003
AA Change: F215Y
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: F215Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
144 |
N/A |
INTRINSIC |
|
Pfam:DUF4685
|
164 |
245 |
2.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136883
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138959
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
| Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
| Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
| Other mutations in 1700001O22Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02627:1700001O22Rik
|
APN |
2 |
30,685,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1236:1700001O22Rik
|
UTSW |
2 |
30,685,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:1700001O22Rik
|
UTSW |
2 |
30,686,488 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1971:1700001O22Rik
|
UTSW |
2 |
30,686,566 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2082:1700001O22Rik
|
UTSW |
2 |
30,686,391 (GRCm39) |
splice site |
probably null |
|
|
R2107:1700001O22Rik
|
UTSW |
2 |
30,685,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:1700001O22Rik
|
UTSW |
2 |
30,686,450 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5821:1700001O22Rik
|
UTSW |
2 |
30,686,458 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6282:1700001O22Rik
|
UTSW |
2 |
30,690,781 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7192:1700001O22Rik
|
UTSW |
2 |
30,686,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7644:1700001O22Rik
|
UTSW |
2 |
30,687,966 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8266:1700001O22Rik
|
UTSW |
2 |
30,691,254 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9696:1700001O22Rik
|
UTSW |
2 |
30,691,256 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2013-06-21 |
Incidental Mutation