Incidental Mutation 'IGL01784:2810021J22Rik'
ID |
154230 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
2810021J22Rik
|
Ensembl Gene |
ENSMUSG00000020491 |
Gene Name |
RIKEN cDNA 2810021J22 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL01784
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
58758042-58774114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58771445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 309
(P309L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073924]
[ENSMUST00000132570]
|
AlphaFold |
Q8BIB6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073924
AA Change: P309L
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000073579 Gene: ENSMUSG00000020491 AA Change: P309L
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
2.38e-30 |
SMART |
ZnF_C2H2
|
242 |
264 |
1.68e1 |
SMART |
ZnF_C2H2
|
370 |
392 |
1.56e-2 |
SMART |
ZnF_C2H2
|
398 |
420 |
1.03e-2 |
SMART |
ZnF_C2H2
|
426 |
448 |
1.38e-3 |
SMART |
ZnF_C2H2
|
454 |
476 |
3.16e-3 |
SMART |
ZnF_C2H2
|
482 |
504 |
1.6e-4 |
SMART |
ZnF_C2H2
|
510 |
532 |
7.78e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132570
|
SMART Domains |
Protein: ENSMUSP00000120692 Gene: ENSMUSG00000020491
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
64 |
2.25e-17 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
T |
3: 121,932,154 (GRCm39) |
K269N |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,854,399 (GRCm39) |
T839A |
probably benign |
Het |
Adcy7 |
A |
G |
8: 89,040,751 (GRCm39) |
D30G |
probably damaging |
Het |
Aldh3b1 |
A |
G |
19: 3,971,217 (GRCm39) |
I149T |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,630,247 (GRCm39) |
D199G |
probably damaging |
Het |
Cplx3 |
T |
C |
9: 57,527,847 (GRCm39) |
Y36C |
probably damaging |
Het |
Ddo |
A |
G |
10: 40,507,784 (GRCm39) |
|
probably benign |
Het |
Ensa |
T |
A |
3: 95,535,844 (GRCm39) |
|
probably benign |
Het |
Etnppl |
A |
G |
3: 130,425,427 (GRCm39) |
I405V |
possibly damaging |
Het |
Fam171b |
T |
A |
2: 83,710,031 (GRCm39) |
L568M |
possibly damaging |
Het |
Fmn2 |
A |
G |
1: 174,329,994 (GRCm39) |
D128G |
unknown |
Het |
Fra10ac1 |
T |
A |
19: 38,208,125 (GRCm39) |
H43L |
probably benign |
Het |
Gm7589 |
T |
C |
9: 59,053,310 (GRCm39) |
|
noncoding transcript |
Het |
Gsx1 |
A |
G |
5: 147,126,939 (GRCm39) |
D254G |
probably benign |
Het |
Hoxb6 |
A |
G |
11: 96,191,639 (GRCm39) |
E187G |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,518,524 (GRCm39) |
I2385N |
probably damaging |
Het |
Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
Mccc1 |
T |
G |
3: 36,030,897 (GRCm39) |
N390H |
probably damaging |
Het |
Mphosph9 |
T |
C |
5: 124,403,373 (GRCm39) |
|
probably benign |
Het |
Nfic |
T |
C |
10: 81,241,982 (GRCm39) |
D364G |
possibly damaging |
Het |
Niban1 |
T |
A |
1: 151,525,116 (GRCm39) |
Y174N |
probably damaging |
Het |
Npy |
A |
G |
6: 49,806,314 (GRCm39) |
|
probably benign |
Het |
Or6c8 |
C |
T |
10: 128,915,224 (GRCm39) |
V203M |
probably benign |
Het |
Osbpl3 |
A |
G |
6: 50,321,902 (GRCm39) |
S75P |
probably damaging |
Het |
Plekhg4 |
G |
T |
8: 106,105,589 (GRCm39) |
A685S |
probably damaging |
Het |
Pramel51 |
A |
G |
12: 88,143,085 (GRCm39) |
Y178H |
probably benign |
Het |
Prss53 |
T |
C |
7: 127,485,724 (GRCm39) |
T539A |
probably benign |
Het |
Rnf43 |
T |
A |
11: 87,622,632 (GRCm39) |
S537T |
possibly damaging |
Het |
Rpgrip1l |
G |
A |
8: 91,997,089 (GRCm39) |
T597I |
possibly damaging |
Het |
Rtn4 |
C |
A |
11: 29,657,291 (GRCm39) |
Q482K |
probably damaging |
Het |
Sema3g |
T |
C |
14: 30,944,924 (GRCm39) |
I349T |
probably damaging |
Het |
Sh3gl1 |
A |
C |
17: 56,326,325 (GRCm39) |
S108A |
possibly damaging |
Het |
Tmc7 |
A |
T |
7: 118,146,538 (GRCm39) |
|
probably null |
Het |
Tmem131 |
G |
A |
1: 36,854,564 (GRCm39) |
T131I |
probably damaging |
Het |
Vac14 |
T |
C |
8: 111,397,800 (GRCm39) |
L505P |
probably benign |
Het |
Wasf2 |
A |
G |
4: 132,919,439 (GRCm39) |
Q231R |
unknown |
Het |
Wnt7a |
A |
G |
6: 91,342,839 (GRCm39) |
C348R |
probably damaging |
Het |
Zkscan6 |
T |
A |
11: 65,705,547 (GRCm39) |
L86Q |
probably damaging |
Het |
|
Other mutations in 2810021J22Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00983:2810021J22Rik
|
APN |
11 |
58,771,438 (GRCm39) |
nonsense |
probably null |
|
IGL02287:2810021J22Rik
|
APN |
11 |
58,771,418 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03281:2810021J22Rik
|
APN |
11 |
58,771,601 (GRCm39) |
missense |
probably benign |
0.01 |
H8562:2810021J22Rik
|
UTSW |
11 |
58,771,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0480:2810021J22Rik
|
UTSW |
11 |
58,771,012 (GRCm39) |
missense |
probably damaging |
0.99 |
R1148:2810021J22Rik
|
UTSW |
11 |
58,767,544 (GRCm39) |
missense |
probably damaging |
0.97 |
R1148:2810021J22Rik
|
UTSW |
11 |
58,767,544 (GRCm39) |
missense |
probably damaging |
0.97 |
R1493:2810021J22Rik
|
UTSW |
11 |
58,767,544 (GRCm39) |
missense |
probably damaging |
0.97 |
R1565:2810021J22Rik
|
UTSW |
11 |
58,771,327 (GRCm39) |
missense |
probably benign |
0.00 |
R1676:2810021J22Rik
|
UTSW |
11 |
58,771,819 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2070:2810021J22Rik
|
UTSW |
11 |
58,767,595 (GRCm39) |
missense |
probably damaging |
0.98 |
R2071:2810021J22Rik
|
UTSW |
11 |
58,767,595 (GRCm39) |
missense |
probably damaging |
0.98 |
R4402:2810021J22Rik
|
UTSW |
11 |
58,771,020 (GRCm39) |
missense |
probably benign |
0.01 |
R4541:2810021J22Rik
|
UTSW |
11 |
58,769,676 (GRCm39) |
missense |
probably benign |
0.16 |
R4685:2810021J22Rik
|
UTSW |
11 |
58,771,750 (GRCm39) |
missense |
probably damaging |
0.97 |
R4765:2810021J22Rik
|
UTSW |
11 |
58,771,987 (GRCm39) |
missense |
probably benign |
0.09 |
R4968:2810021J22Rik
|
UTSW |
11 |
58,769,616 (GRCm39) |
nonsense |
probably null |
|
R5282:2810021J22Rik
|
UTSW |
11 |
58,771,166 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5519:2810021J22Rik
|
UTSW |
11 |
58,770,923 (GRCm39) |
missense |
probably benign |
|
R6083:2810021J22Rik
|
UTSW |
11 |
58,769,677 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6134:2810021J22Rik
|
UTSW |
11 |
58,767,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R6334:2810021J22Rik
|
UTSW |
11 |
58,770,940 (GRCm39) |
missense |
probably benign |
|
R7108:2810021J22Rik
|
UTSW |
11 |
58,771,750 (GRCm39) |
missense |
probably damaging |
0.97 |
R7288:2810021J22Rik
|
UTSW |
11 |
58,771,131 (GRCm39) |
missense |
probably benign |
0.03 |
R7310:2810021J22Rik
|
UTSW |
11 |
58,771,094 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7422:2810021J22Rik
|
UTSW |
11 |
58,771,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R7829:2810021J22Rik
|
UTSW |
11 |
58,770,823 (GRCm39) |
missense |
not run |
|
R8237:2810021J22Rik
|
UTSW |
11 |
58,771,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R8303:2810021J22Rik
|
UTSW |
11 |
58,770,966 (GRCm39) |
missense |
probably benign |
0.00 |
R9453:2810021J22Rik
|
UTSW |
11 |
58,771,054 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:2810021J22Rik
|
UTSW |
11 |
58,770,929 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1186:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:2810021J22Rik
|
UTSW |
11 |
58,771,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-02-04 |