Incidental Mutation 'IGL00864:4921539E11Rik'
ID |
12418 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
4921539E11Rik
|
Ensembl Gene |
ENSMUSG00000028520 |
Gene Name |
RIKEN cDNA 4921539E11 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL00864
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
103087642-103148060 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103092895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 142
(D142G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030245]
[ENSMUST00000097944]
[ENSMUST00000168664]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030245
AA Change: D243G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030245 Gene: ENSMUSG00000028520 AA Change: D243G
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
443 |
6.1e-206 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097944
AA Change: D243G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000095557 Gene: ENSMUSG00000028520 AA Change: D243G
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
270 |
7.3e-116 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168664
AA Change: D142G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131846 Gene: ENSMUSG00000028520 AA Change: D142G
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
342 |
4.4e-183 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2b1 |
A |
C |
11: 83,223,984 (GRCm39) |
D195A |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,655,503 (GRCm39) |
I1171K |
probably benign |
Het |
Atm |
T |
C |
9: 53,445,233 (GRCm39) |
S2G |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Ephx1 |
A |
G |
1: 180,818,016 (GRCm39) |
S356P |
probably damaging |
Het |
H1f8 |
A |
G |
6: 115,925,587 (GRCm39) |
K128R |
probably damaging |
Het |
Il12rb2 |
A |
G |
6: 67,313,738 (GRCm39) |
I6T |
probably benign |
Het |
Itm2b |
T |
C |
14: 73,600,575 (GRCm39) |
K242E |
probably damaging |
Het |
Kcnq5 |
T |
A |
1: 21,575,987 (GRCm39) |
Q239L |
probably damaging |
Het |
Lmbrd2 |
T |
C |
15: 9,175,297 (GRCm39) |
S403P |
probably damaging |
Het |
Ola1 |
A |
T |
2: 72,987,241 (GRCm39) |
D130E |
probably benign |
Het |
Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
Opcml |
A |
C |
9: 28,812,887 (GRCm39) |
E193A |
probably damaging |
Het |
Rab44 |
T |
C |
17: 29,358,711 (GRCm39) |
S300P |
probably benign |
Het |
Sergef |
C |
A |
7: 46,165,087 (GRCm39) |
|
probably null |
Het |
Slc6a2 |
T |
C |
8: 93,722,622 (GRCm39) |
F540L |
probably benign |
Het |
Spag6l |
A |
G |
16: 16,598,597 (GRCm39) |
V298A |
probably benign |
Het |
Svep1 |
G |
T |
4: 58,068,533 (GRCm39) |
Y3084* |
probably null |
Het |
Tbc1d4 |
T |
A |
14: 101,682,002 (GRCm39) |
D1235V |
probably benign |
Het |
Tlr9 |
T |
C |
9: 106,102,206 (GRCm39) |
L499P |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,544,178 (GRCm39) |
S24609F |
probably damaging |
Het |
|
Other mutations in 4921539E11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:4921539E11Rik
|
APN |
4 |
103,092,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01951:4921539E11Rik
|
APN |
4 |
103,092,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02477:4921539E11Rik
|
APN |
4 |
103,127,943 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02606:4921539E11Rik
|
APN |
4 |
103,099,978 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03210:4921539E11Rik
|
APN |
4 |
103,141,635 (GRCm39) |
missense |
probably benign |
0.01 |
BB004:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
BB014:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
R0441:4921539E11Rik
|
UTSW |
4 |
103,092,689 (GRCm39) |
intron |
probably benign |
|
R0455:4921539E11Rik
|
UTSW |
4 |
103,088,180 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0504:4921539E11Rik
|
UTSW |
4 |
103,128,057 (GRCm39) |
splice site |
probably benign |
|
R0636:4921539E11Rik
|
UTSW |
4 |
103,088,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R0766:4921539E11Rik
|
UTSW |
4 |
103,127,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R0799:4921539E11Rik
|
UTSW |
4 |
103,100,101 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1312:4921539E11Rik
|
UTSW |
4 |
103,127,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R1713:4921539E11Rik
|
UTSW |
4 |
103,127,964 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1783:4921539E11Rik
|
UTSW |
4 |
103,088,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R1978:4921539E11Rik
|
UTSW |
4 |
103,127,961 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3735:4921539E11Rik
|
UTSW |
4 |
103,123,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R4821:4921539E11Rik
|
UTSW |
4 |
103,092,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5274:4921539E11Rik
|
UTSW |
4 |
103,092,856 (GRCm39) |
missense |
probably benign |
0.22 |
R5275:4921539E11Rik
|
UTSW |
4 |
103,092,856 (GRCm39) |
missense |
probably benign |
0.22 |
R5431:4921539E11Rik
|
UTSW |
4 |
103,128,045 (GRCm39) |
missense |
probably benign |
0.00 |
R5449:4921539E11Rik
|
UTSW |
4 |
103,123,579 (GRCm39) |
missense |
probably benign |
|
R6049:4921539E11Rik
|
UTSW |
4 |
103,088,520 (GRCm39) |
missense |
probably benign |
0.05 |
R6277:4921539E11Rik
|
UTSW |
4 |
103,088,668 (GRCm39) |
nonsense |
probably null |
|
R6518:4921539E11Rik
|
UTSW |
4 |
103,123,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R6602:4921539E11Rik
|
UTSW |
4 |
103,112,769 (GRCm39) |
missense |
probably benign |
0.36 |
R6634:4921539E11Rik
|
UTSW |
4 |
103,094,127 (GRCm39) |
critical splice donor site |
probably null |
|
R6992:4921539E11Rik
|
UTSW |
4 |
103,099,990 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7575:4921539E11Rik
|
UTSW |
4 |
103,088,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
R8130:4921539E11Rik
|
UTSW |
4 |
103,092,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R8461:4921539E11Rik
|
UTSW |
4 |
103,112,712 (GRCm39) |
missense |
probably benign |
0.01 |
R8714:4921539E11Rik
|
UTSW |
4 |
103,100,093 (GRCm39) |
missense |
probably benign |
0.10 |
R8798:4921539E11Rik
|
UTSW |
4 |
103,123,574 (GRCm39) |
start gained |
probably benign |
|
R9458:4921539E11Rik
|
UTSW |
4 |
103,141,608 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9462:4921539E11Rik
|
UTSW |
4 |
103,092,964 (GRCm39) |
missense |
probably benign |
0.08 |
R9598:4921539E11Rik
|
UTSW |
4 |
103,088,604 (GRCm39) |
missense |
probably benign |
0.03 |
R9643:4921539E11Rik
|
UTSW |
4 |
103,092,666 (GRCm39) |
missense |
unknown |
|
R9709:4921539E11Rik
|
UTSW |
4 |
103,092,678 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2012-12-06 |