Incidental Mutation 'IGL01984:4933434E20Rik'
| ID |
181821 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4933434E20Rik
|
| Ensembl Gene |
ENSMUSG00000027942 |
| Gene Name |
RIKEN cDNA 4933434E20 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89958941-89969754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89970537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 24
(L24F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029551]
[ENSMUST00000029552]
[ENSMUST00000068798]
[ENSMUST00000159064]
[ENSMUST00000160640]
[ENSMUST00000161918]
[ENSMUST00000162114]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029551
AA Change: L24F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000029551
Gene: ENSMUSG00000027942
AA Change: L24F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4558
|
20 |
105 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029552
|
| SMART Domains |
Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
1.3e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068798
|
| SMART Domains |
Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
171 |
2.6e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159064
|
| SMART Domains |
Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
6 |
188 |
4.2e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159202
|
| SMART Domains |
Protein: ENSMUSP00000123777
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
61 |
2.3e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160640
|
| SMART Domains |
Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
3.2e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161918
|
| SMART Domains |
Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
64 |
2.2e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162114
|
| SMART Domains |
Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-3
|
1 |
189 |
1.4e-89 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
C |
13: 70,935,266 (GRCm39) |
D442G |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,487 (GRCm39) |
T634A |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,982,630 (GRCm39) |
|
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,354,270 (GRCm39) |
L202P |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,382,614 (GRCm39) |
S325T |
probably damaging |
Het |
| Clec2d |
A |
T |
6: 129,161,192 (GRCm39) |
E96D |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,369 (GRCm39) |
|
probably benign |
Het |
| Dcun1d5 |
T |
A |
9: 7,205,307 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,741,174 (GRCm39) |
|
probably null |
Het |
| Dpcd |
C |
T |
19: 45,565,469 (GRCm39) |
H148Y |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,629,134 (GRCm39) |
D937E |
probably benign |
Het |
| Erg |
T |
G |
16: 95,210,786 (GRCm39) |
D15A |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,547 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,103,926 (GRCm39) |
R1083Q |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,299,533 (GRCm39) |
S1012P |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,159,057 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,951,525 (GRCm39) |
|
probably null |
Het |
| Magi1 |
A |
T |
6: 93,685,155 (GRCm39) |
V740D |
probably damaging |
Het |
| Nme8 |
C |
A |
13: 19,873,150 (GRCm39) |
V165L |
probably damaging |
Het |
| Odf2l |
G |
T |
3: 144,845,590 (GRCm39) |
E5* |
probably null |
Het |
| Or14j4 |
T |
C |
17: 37,934,552 (GRCm39) |
|
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,451,927 (GRCm39) |
L164S |
probably benign |
Het |
| Or56a5 |
A |
T |
7: 104,792,923 (GRCm39) |
D192E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,183 (GRCm39) |
V1001A |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,459,922 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,526,643 (GRCm39) |
A1305T |
probably benign |
Het |
| Rnps1 |
T |
C |
17: 24,643,371 (GRCm39) |
|
probably benign |
Het |
| St8sia5 |
T |
C |
18: 77,336,157 (GRCm39) |
F197L |
probably benign |
Het |
| Sult3a1 |
G |
T |
10: 33,755,205 (GRCm39) |
G257* |
probably null |
Het |
| Svep1 |
A |
C |
4: 58,068,877 (GRCm39) |
Y2970D |
possibly damaging |
Het |
| Tns3 |
G |
T |
11: 8,498,992 (GRCm39) |
Y30* |
probably null |
Het |
| Ubr1 |
G |
T |
2: 120,751,867 (GRCm39) |
P791T |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,688,392 (GRCm39) |
V1039A |
probably benign |
Het |
|
| Other mutations in 4933434E20Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:4933434E20Rik
|
APN |
3 |
89,960,400 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01621:4933434E20Rik
|
APN |
3 |
89,971,809 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02005:4933434E20Rik
|
APN |
3 |
89,965,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0446:4933434E20Rik
|
UTSW |
3 |
89,971,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1717:4933434E20Rik
|
UTSW |
3 |
89,963,544 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1816:4933434E20Rik
|
UTSW |
3 |
89,960,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2170:4933434E20Rik
|
UTSW |
3 |
89,963,611 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2299:4933434E20Rik
|
UTSW |
3 |
89,971,845 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2981:4933434E20Rik
|
UTSW |
3 |
89,965,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3879:4933434E20Rik
|
UTSW |
3 |
89,970,561 (GRCm39) |
unclassified |
probably benign |
|
|
R4065:4933434E20Rik
|
UTSW |
3 |
89,966,073 (GRCm39) |
nonsense |
probably null |
|
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:4933434E20Rik
|
UTSW |
3 |
89,960,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:4933434E20Rik
|
UTSW |
3 |
89,970,516 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5076:4933434E20Rik
|
UTSW |
3 |
89,963,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6126:4933434E20Rik
|
UTSW |
3 |
89,963,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6337:4933434E20Rik
|
UTSW |
3 |
89,969,040 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6562:4933434E20Rik
|
UTSW |
3 |
89,970,543 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7312:4933434E20Rik
|
UTSW |
3 |
89,969,021 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7316:4933434E20Rik
|
UTSW |
3 |
89,969,020 (GRCm39) |
missense |
probably benign |
|
|
R7473:4933434E20Rik
|
UTSW |
3 |
89,965,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7990:4933434E20Rik
|
UTSW |
3 |
89,970,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8125:4933434E20Rik
|
UTSW |
3 |
89,972,818 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9268:4933434E20Rik
|
UTSW |
3 |
89,969,030 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2014-05-07 |
Incidental Mutation