Incidental Mutation 'IGL02591:4921504E06Rik'
| ID |
299724 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4921504E06Rik
|
| Ensembl Gene |
ENSMUSG00000026734 |
| Gene Name |
RIKEN cDNA 4921504E06 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL02591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
19467648-19558721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19485249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 448
(F448I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062060]
|
| AlphaFold |
Q8CET2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062060
AA Change: F448I
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058720
Gene: ENSMUSG00000026734
AA Change: F448I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:DUF4709
|
36 |
145 |
1e-45 |
PFAM |
|
coiled coil region
|
165 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
386 |
N/A |
INTRINSIC |
|
coiled coil region
|
417 |
463 |
N/A |
INTRINSIC |
|
Pfam:DUF4724
|
477 |
559 |
3.9e-24 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
T |
C |
8: 124,212,748 (GRCm39) |
F170L |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,398,158 (GRCm39) |
R1300* |
probably null |
Het |
| Cadps |
G |
A |
14: 12,473,465 (GRCm38) |
R899C |
probably damaging |
Het |
| Ckap4 |
T |
C |
10: 84,364,454 (GRCm39) |
D203G |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,249 (GRCm39) |
N433D |
probably damaging |
Het |
| Eapp |
T |
C |
12: 54,739,607 (GRCm39) |
N70S |
probably damaging |
Het |
| Eno3 |
A |
T |
11: 70,552,853 (GRCm39) |
D378V |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,638 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,082,031 (GRCm39) |
I558F |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,786 (GRCm39) |
M234K |
possibly damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,490,344 (GRCm39) |
Q81R |
probably damaging |
Het |
| Gpm6a |
C |
T |
8: 55,511,954 (GRCm39) |
A276V |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,531,821 (GRCm39) |
|
probably benign |
Het |
| Ikbip |
G |
T |
10: 90,932,154 (GRCm39) |
C266F |
probably damaging |
Het |
| Lpar2 |
C |
T |
8: 70,276,700 (GRCm39) |
A163V |
probably benign |
Het |
| Med17 |
T |
A |
9: 15,181,657 (GRCm39) |
H31L |
probably damaging |
Het |
| Or5g25 |
C |
A |
2: 85,478,487 (GRCm39) |
M59I |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,755,053 (GRCm39) |
F992L |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,900,287 (GRCm39) |
H864R |
probably damaging |
Het |
| Samd9l |
A |
C |
6: 3,375,760 (GRCm39) |
C500W |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,178 (GRCm39) |
Y501N |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,957,702 (GRCm39) |
H277L |
probably damaging |
Het |
| Slc39a8 |
T |
G |
3: 135,590,381 (GRCm39) |
L358R |
probably damaging |
Het |
| Spi1 |
T |
A |
2: 90,927,295 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
A |
G |
8: 22,748,743 (GRCm39) |
E477G |
probably damaging |
Het |
| Tlr1 |
C |
T |
5: 65,084,059 (GRCm39) |
V173M |
probably damaging |
Het |
| Tmco2 |
C |
T |
4: 120,962,987 (GRCm39) |
D171N |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,065,563 (GRCm39) |
L492P |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,153 (GRCm39) |
I333K |
probably damaging |
Het |
| Zfp598 |
C |
A |
17: 24,896,478 (GRCm39) |
P185Q |
probably damaging |
Het |
| Zfp711 |
T |
A |
X: 111,542,391 (GRCm39) |
M474K |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,509,206 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in 4921504E06Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00776:4921504E06Rik
|
APN |
2 |
19,545,182 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01590:4921504E06Rik
|
APN |
2 |
19,482,590 (GRCm39) |
splice site |
probably benign |
|
|
IGL02264:4921504E06Rik
|
APN |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
|
H8786:4921504E06Rik
|
UTSW |
2 |
19,498,905 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0545:4921504E06Rik
|
UTSW |
2 |
19,547,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:4921504E06Rik
|
UTSW |
2 |
19,482,667 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1325:4921504E06Rik
|
UTSW |
2 |
19,499,938 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1456:4921504E06Rik
|
UTSW |
2 |
19,485,731 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2013:4921504E06Rik
|
UTSW |
2 |
19,545,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2089:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:4921504E06Rik
|
UTSW |
2 |
19,485,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3982:4921504E06Rik
|
UTSW |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
|
R3983:4921504E06Rik
|
UTSW |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
|
R4074:4921504E06Rik
|
UTSW |
2 |
19,485,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4995:4921504E06Rik
|
UTSW |
2 |
19,498,995 (GRCm39) |
nonsense |
probably null |
|
|
R5303:4921504E06Rik
|
UTSW |
2 |
19,521,110 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5308:4921504E06Rik
|
UTSW |
2 |
19,528,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6227:4921504E06Rik
|
UTSW |
2 |
19,558,581 (GRCm39) |
splice site |
probably null |
|
|
R6253:4921504E06Rik
|
UTSW |
2 |
19,528,929 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6268:4921504E06Rik
|
UTSW |
2 |
19,545,219 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6496:4921504E06Rik
|
UTSW |
2 |
19,545,217 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7196:4921504E06Rik
|
UTSW |
2 |
19,498,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:4921504E06Rik
|
UTSW |
2 |
19,545,219 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8146:4921504E06Rik
|
UTSW |
2 |
19,498,814 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8150:4921504E06Rik
|
UTSW |
2 |
19,538,635 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8534:4921504E06Rik
|
UTSW |
2 |
19,545,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:4921504E06Rik
|
UTSW |
2 |
19,522,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:4921504E06Rik
|
UTSW |
2 |
19,485,343 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2015-04-16 |
Incidental Mutation