Incidental Mutation 'R5462:4933412E24Rik'
| ID |
433082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4933412E24Rik
|
| Ensembl Gene |
ENSMUSG00000071749 |
| Gene Name |
RIKEN cDNA 4933412E24 gene |
| Synonyms |
|
| MMRRC Submission |
043024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
59886715-59888462 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59886917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 508
(F508L)
|
| 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: F508L
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000094154
Gene: ENSMUSG00000071749
AA Change: F508L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4641
|
79 |
509 |
5.4e-189 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Amz1 |
A |
G |
5: 140,733,976 (GRCm39) |
Y184C |
probably damaging |
Het |
| Calm3 |
A |
T |
7: 16,651,619 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cep112 |
T |
A |
11: 108,409,570 (GRCm39) |
N479K |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,436,695 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
C |
8: 16,011,486 (GRCm39) |
N2522K |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,930,042 (GRCm39) |
L18P |
probably damaging |
Het |
| E2f2 |
A |
T |
4: 135,900,224 (GRCm39) |
T45S |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,117,074 (GRCm39) |
Y67C |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,042,851 (GRCm39) |
C2290* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,233,175 (GRCm39) |
T1853A |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,164,655 (GRCm39) |
L1587P |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,720,897 (GRCm39) |
N2337D |
probably benign |
Het |
| Mettl3 |
T |
C |
14: 52,537,336 (GRCm39) |
Q182R |
probably damaging |
Het |
| Mterf1b |
A |
G |
5: 4,246,541 (GRCm39) |
S61G |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,437,562 (GRCm39) |
Y2100C |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,765,385 (GRCm39) |
W138R |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,640 (GRCm39) |
Y252C |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,486,728 (GRCm39) |
Y114H |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,453,971 (GRCm39) |
S322T |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,857,171 (GRCm39) |
D373E |
probably damaging |
Het |
| Snx29 |
A |
T |
16: 11,328,876 (GRCm39) |
M552L |
possibly damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,050,520 (GRCm39) |
F2356L |
possibly damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,238,052 (GRCm39) |
Q241K |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,045 (GRCm39) |
I56T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,238 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,220,973 (GRCm39) |
W297R |
probably damaging |
Het |
| Zbtb47 |
G |
T |
9: 121,596,729 (GRCm39) |
R695L |
probably damaging |
Het |
| Zfp267 |
C |
T |
3: 36,219,969 (GRCm39) |
T664I |
possibly 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 |
|
R2440:4933412E24Rik
|
UTSW |
15 |
59,888,129 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- GCAGAAACAAGCCAGCGTTC -3'
(R):5'- CCAAGAAATCTGTACTCTCTGGTG -3'
Sequencing Primer
(F):5'- GAAACAAGCCAGCGTTCTTTAG -3'
(R):5'- TACCTGGAACACAAGGCT -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation