Incidental Mutation 'IGL00983:2810021J22Rik'
| ID |
28668 |
| 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 # |
IGL00983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58758042-58774114 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 58771438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 307
(Q307*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073924]
[ENSMUST00000132570]
|
| AlphaFold |
Q8BIB6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073924
AA Change: Q307*
|
| SMART Domains |
Protein: ENSMUSP00000073579
Gene: ENSMUSG00000020491
AA Change: Q307*
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
T |
10: 106,802,825 (GRCm39) |
C473* |
probably null |
Het |
| Adgrg1 |
T |
A |
8: 95,731,871 (GRCm39) |
S178T |
probably damaging |
Het |
| Anxa7 |
C |
A |
14: 20,508,749 (GRCm39) |
L386F |
possibly damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,798 (GRCm39) |
E82G |
probably benign |
Het |
| Ccr9 |
C |
T |
9: 123,608,351 (GRCm39) |
P11L |
probably benign |
Het |
| Cep164 |
C |
A |
9: 45,686,554 (GRCm39) |
V887L |
possibly damaging |
Het |
| Dctn6 |
A |
G |
8: 34,559,747 (GRCm39) |
L136P |
probably damaging |
Het |
| Dnase1 |
T |
C |
16: 3,857,417 (GRCm39) |
V238A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,486,427 (GRCm39) |
Y3304C |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,281,069 (GRCm39) |
V359D |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,657 (GRCm39) |
I98T |
possibly damaging |
Het |
| Gspt1 |
C |
T |
16: 11,048,861 (GRCm39) |
|
probably benign |
Het |
| Itgam |
C |
A |
7: 127,667,839 (GRCm39) |
T70K |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,212,479 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,040,791 (GRCm39) |
M458K |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,714,153 (GRCm39) |
K379E |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,275,915 (GRCm39) |
V4206I |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,525 (GRCm39) |
L3397S |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,436,785 (GRCm39) |
N508K |
probably damaging |
Het |
| Mttp |
C |
A |
3: 137,820,890 (GRCm39) |
|
probably benign |
Het |
| Nme5 |
G |
T |
18: 34,700,181 (GRCm39) |
Q155K |
probably benign |
Het |
| Or13p3 |
A |
T |
4: 118,567,119 (GRCm39) |
N172Y |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,029 (GRCm39) |
I308N |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,593 (GRCm39) |
I150N |
possibly damaging |
Het |
| Pfkp |
A |
T |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,794,585 (GRCm39) |
T1859S |
probably benign |
Het |
| Pmvk |
T |
C |
3: 89,374,890 (GRCm39) |
W96R |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,539 (GRCm39) |
M116K |
probably damaging |
Het |
| Ptpro |
A |
C |
6: 137,395,246 (GRCm39) |
L876F |
probably benign |
Het |
| Sdcbp |
G |
T |
4: 6,392,953 (GRCm39) |
E197* |
probably null |
Het |
| Serpinb1c |
A |
T |
13: 33,068,207 (GRCm39) |
S188R |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,164,566 (GRCm39) |
D988E |
probably damaging |
Het |
| Tmbim1 |
C |
A |
1: 74,334,422 (GRCm39) |
G46V |
probably damaging |
Het |
| Ubl4b |
C |
T |
3: 107,461,756 (GRCm39) |
G168E |
unknown |
Het |
| Vmn2r91 |
T |
C |
17: 18,325,820 (GRCm39) |
F146S |
probably benign |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,613 (GRCm39) |
N335D |
possibly damaging |
Het |
| Zzz3 |
T |
G |
3: 152,161,447 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in 2810021J22Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01784:2810021J22Rik
|
APN |
11 |
58,771,445 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
2013-04-17 |
Incidental Mutation