Incidental Mutation 'R1236:1700001O22Rik'
ID |
152416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700001O22Rik
|
Ensembl Gene |
ENSMUSG00000044320 |
Gene Name |
RIKEN cDNA 1700001O22 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1236 (G1)
|
Quality Score |
218 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
30684781-30693673 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30685756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 360
(Y360C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050003]
|
AlphaFold |
A2APZ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050003
AA Change: Y360C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058055 Gene: ENSMUSG00000044320 AA Change: Y360C
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: ENSMUST00000140168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150205
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139968
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136883
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
T |
A |
19: 56,904,904 (GRCm39) |
H566L |
possibly damaging |
Het |
Aqr |
G |
T |
2: 113,947,136 (GRCm39) |
F1015L |
probably damaging |
Het |
Cep112 |
T |
A |
11: 108,750,200 (GRCm39) |
L901H |
probably damaging |
Het |
Col26a1 |
A |
G |
5: 136,783,780 (GRCm39) |
V229A |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,349,367 (GRCm39) |
N231S |
probably benign |
Het |
Dmac2l |
T |
C |
12: 69,788,592 (GRCm39) |
|
probably null |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm37240 |
T |
A |
3: 84,435,003 (GRCm39) |
N13I |
probably benign |
Het |
Kbtbd7 |
G |
T |
14: 79,665,272 (GRCm39) |
C368F |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,444,020 (GRCm39) |
D418G |
probably benign |
Het |
Lpcat2 |
A |
G |
8: 93,613,197 (GRCm39) |
M246V |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,319,242 (GRCm39) |
W31R |
probably damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Npepl1 |
T |
A |
2: 173,956,273 (GRCm39) |
|
probably null |
Het |
Or6c212 |
A |
G |
10: 129,558,675 (GRCm39) |
V246A |
probably damaging |
Het |
Or8b1 |
T |
C |
9: 38,399,525 (GRCm39) |
S67P |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,943,056 (GRCm39) |
L147P |
probably damaging |
Het |
Pkp2 |
C |
A |
16: 16,043,766 (GRCm39) |
H173Q |
probably benign |
Het |
Prlr |
C |
A |
15: 10,325,367 (GRCm39) |
T180K |
probably benign |
Het |
Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
Rufy2 |
A |
G |
10: 62,830,549 (GRCm39) |
N217S |
probably benign |
Het |
Sgcg |
T |
C |
14: 61,483,219 (GRCm39) |
M61V |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spint1 |
A |
G |
2: 119,076,054 (GRCm39) |
T217A |
probably benign |
Het |
Tert |
T |
C |
13: 73,784,498 (GRCm39) |
L648P |
probably damaging |
Het |
Vwde |
A |
T |
6: 13,187,152 (GRCm39) |
Y778* |
probably null |
Het |
Zeb2 |
T |
A |
2: 44,884,658 (GRCm39) |
D967V |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
Zscan26 |
T |
C |
13: 21,629,940 (GRCm39) |
M188V |
probably benign |
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 |
IGL02627:1700001O22Rik
|
APN |
2 |
30,685,777 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGCACCTAGAGTGGCTTTTACTG -3'
(R):5'- GGACACCCCTAACAATGTGGATCAG -3'
Sequencing Primer
(F):5'- ACTGGGAGACCTAGTGATCCATC -3'
(R):5'- CTTGAGCCAGGCTAGTGAG -3'
|
Posted On |
2014-01-29 |