Incidental Mutation 'IGL02627:1700001O22Rik'
ID |
301140 |
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 # |
IGL02627
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
30684781-30693673 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30685777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 353
(K353M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050003]
|
AlphaFold |
A2APZ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050003
AA Change: K353M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058055 Gene: ENSMUSG00000044320 AA Change: K353M
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: ENSMUST00000136883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150205
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139968
|
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 |
Arhgap32 |
T |
C |
9: 32,157,302 (GRCm39) |
Y100H |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cfap418 |
G |
A |
4: 10,898,039 (GRCm39) |
C207Y |
probably damaging |
Het |
Ckap5 |
A |
T |
2: 91,406,366 (GRCm39) |
N752I |
probably damaging |
Het |
Dgkz |
T |
A |
2: 91,769,055 (GRCm39) |
|
probably benign |
Het |
Egfr |
T |
A |
11: 16,819,346 (GRCm39) |
V292E |
probably damaging |
Het |
Gnb3 |
T |
C |
6: 124,811,678 (GRCm39) |
T329A |
probably damaging |
Het |
Igkv3-2 |
A |
T |
6: 70,675,810 (GRCm39) |
T40S |
probably damaging |
Het |
Kcnq2 |
T |
C |
2: 180,724,120 (GRCm39) |
|
probably benign |
Het |
Mbip |
T |
C |
12: 56,382,590 (GRCm39) |
Q292R |
probably benign |
Het |
Mgat5b |
T |
C |
11: 116,874,442 (GRCm39) |
Y625H |
probably damaging |
Het |
Ms4a4d |
A |
T |
19: 11,525,987 (GRCm39) |
E40D |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,562,156 (GRCm39) |
E1003G |
possibly damaging |
Het |
Ncf2 |
G |
A |
1: 152,686,759 (GRCm39) |
|
probably benign |
Het |
Nfkbiz |
A |
G |
16: 55,636,714 (GRCm39) |
V529A |
probably damaging |
Het |
Osr2 |
A |
G |
15: 35,300,600 (GRCm39) |
N52S |
possibly damaging |
Het |
Prag1 |
A |
G |
8: 36,606,593 (GRCm39) |
D778G |
possibly damaging |
Het |
Rsl1d1 |
G |
T |
16: 11,012,415 (GRCm39) |
A337E |
possibly damaging |
Het |
Sall3 |
A |
T |
18: 81,015,576 (GRCm39) |
L784Q |
possibly damaging |
Het |
Spen |
A |
G |
4: 141,200,326 (GRCm39) |
I2744T |
probably damaging |
Het |
Tfip11 |
A |
C |
5: 112,477,679 (GRCm39) |
S145R |
possibly damaging |
Het |
Tonsl |
T |
C |
15: 76,518,295 (GRCm39) |
D559G |
probably damaging |
Het |
Trmt5 |
A |
T |
12: 73,328,229 (GRCm39) |
S325T |
probably damaging |
Het |
Ubr1 |
A |
T |
2: 120,771,472 (GRCm39) |
V472D |
probably damaging |
Het |
Vmn1r30 |
T |
A |
6: 58,412,746 (GRCm39) |
T29S |
probably benign |
Het |
Vps29 |
T |
C |
5: 122,500,908 (GRCm39) |
S158P |
probably benign |
Het |
Wdr82 |
T |
C |
9: 106,053,886 (GRCm39) |
V79A |
possibly damaging |
Het |
Wfdc16 |
T |
A |
2: 164,480,383 (GRCm39) |
E37D |
possibly damaging |
Het |
|
Other mutations in 1700001O22Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01107:1700001O22Rik
|
APN |
2 |
30,687,948 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2015-04-16 |