Incidental Mutation 'R2440:4933412E24Rik'
| ID |
249766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4933412E24Rik
|
| Ensembl Gene |
ENSMUSG00000071749 |
| Gene Name |
RIKEN cDNA 4933412E24 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2440 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
59886715-59888462 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59888129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 104
(T104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096421]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096421
AA Change: T104A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094154
Gene: ENSMUSG00000071749
AA Change: T104A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4641
|
79 |
509 |
5.4e-189 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
A |
G |
3: 89,642,161 (GRCm39) |
H14R |
possibly damaging |
Het |
| Albfm1 |
A |
G |
5: 90,720,548 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
A |
16: 52,125,976 (GRCm39) |
M114L |
probably damaging |
Het |
| Ccn4 |
T |
A |
15: 66,784,706 (GRCm39) |
D126E |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Coch |
T |
C |
12: 51,643,345 (GRCm39) |
S122P |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,738 (GRCm39) |
K247E |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,764 (GRCm39) |
D8G |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,183,491 (GRCm39) |
T751I |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,067,205 (GRCm39) |
V904A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Or12j5 |
T |
A |
7: 140,083,465 (GRCm39) |
K302N |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,063,731 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
C |
5: 120,748,004 (GRCm39) |
Y98C |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,803,919 (GRCm39) |
|
probably null |
Het |
| Sv2c |
A |
G |
13: 96,185,084 (GRCm39) |
Y198H |
probably damaging |
Het |
| Svs3a |
T |
C |
2: 164,131,551 (GRCm39) |
F41L |
possibly damaging |
Het |
| Tigd2 |
A |
G |
6: 59,186,980 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
C |
A |
17: 57,393,285 (GRCm39) |
G38W |
probably damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,843 (GRCm39) |
V7I |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,978,805 (GRCm39) |
Y615H |
probably damaging |
Het |
|
| Other mutations in 4933412E24Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01744:4933412E24Rik
|
APN |
15 |
59,887,424 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02078:4933412E24Rik
|
APN |
15 |
59,888,179 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02493:4933412E24Rik
|
APN |
15 |
59,888,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03336:4933412E24Rik
|
APN |
15 |
59,888,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0466:4933412E24Rik
|
UTSW |
15 |
59,887,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0961:4933412E24Rik
|
UTSW |
15 |
59,887,160 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1765:4933412E24Rik
|
UTSW |
15 |
59,887,194 (GRCm39) |
nonsense |
probably null |
|
|
R2341:4933412E24Rik
|
UTSW |
15 |
59,888,212 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3162:4933412E24Rik
|
UTSW |
15 |
59,888,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:4933412E24Rik
|
UTSW |
15 |
59,888,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4039:4933412E24Rik
|
UTSW |
15 |
59,888,215 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4416:4933412E24Rik
|
UTSW |
15 |
59,888,272 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4868:4933412E24Rik
|
UTSW |
15 |
59,887,817 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4907:4933412E24Rik
|
UTSW |
15 |
59,887,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5462:4933412E24Rik
|
UTSW |
15 |
59,886,917 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7275:4933412E24Rik
|
UTSW |
15 |
59,887,738 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7842:4933412E24Rik
|
UTSW |
15 |
59,888,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:4933412E24Rik
|
UTSW |
15 |
59,888,425 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8297:4933412E24Rik
|
UTSW |
15 |
59,887,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8378:4933412E24Rik
|
UTSW |
15 |
59,886,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8808:4933412E24Rik
|
UTSW |
15 |
59,887,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0052:4933412E24Rik
|
UTSW |
15 |
59,888,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCGATCACCATTCTACTAGTGG -3'
(R):5'- AGCAAGCTCACGTTGGTGTC -3'
Sequencing Primer
(F):5'- GGTGACCCAAGATCTGCTTTGC -3'
(R):5'- TCACGTTGGTGTCCCAGCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation