Incidental Mutation 'R0575:4931414P19Rik'
| ID |
56197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4931414P19Rik
|
| Ensembl Gene |
ENSMUSG00000022179 |
| Gene Name |
RIKEN cDNA 4931414P19 gene |
| Synonyms |
|
| MMRRC Submission |
038765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R0575 (G1)
|
| Quality Score |
193 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54821120-54843450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54828709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 264
(S264N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022786
AA Change: S264N
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: S264N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4616
|
2 |
538 |
1.5e-263 |
PFAM |
|
| Meta Mutation Damage Score |
0.1025 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
G |
A |
7: 119,258,424 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
T |
15: 80,847,886 (GRCm39) |
A93V |
probably damaging |
Het |
| Agbl5 |
A |
T |
5: 31,051,798 (GRCm39) |
S539C |
probably damaging |
Het |
| Aggf1 |
T |
A |
13: 95,504,905 (GRCm39) |
T285S |
probably benign |
Het |
| Anapc11 |
A |
G |
11: 120,490,192 (GRCm39) |
D36G |
probably benign |
Het |
| Ankrd44 |
G |
A |
1: 54,801,469 (GRCm39) |
A286V |
probably damaging |
Het |
| Atf7ip2 |
G |
T |
16: 10,055,075 (GRCm39) |
G281C |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,996,232 (GRCm39) |
K4475E |
probably damaging |
Het |
| Ccbe1 |
T |
A |
18: 66,227,066 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,552,288 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
T |
C |
3: 35,951,934 (GRCm39) |
|
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,831,539 (GRCm39) |
C156F |
probably damaging |
Het |
| Efcab6 |
T |
G |
15: 83,851,901 (GRCm39) |
I326L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| F5 |
C |
A |
1: 164,003,813 (GRCm39) |
Q203K |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,014,648 (GRCm39) |
H447R |
possibly damaging |
Het |
| Gmds |
T |
G |
13: 32,124,566 (GRCm39) |
Q264P |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,739,171 (GRCm39) |
D2503E |
probably benign |
Het |
| Lgi4 |
G |
A |
7: 30,759,518 (GRCm39) |
G25R |
probably benign |
Het |
| Or2y1b |
G |
A |
11: 49,208,880 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or5b107 |
T |
A |
19: 13,142,751 (GRCm39) |
Y124* |
probably null |
Het |
| Pcdh20 |
A |
G |
14: 88,705,048 (GRCm39) |
S751P |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,614,010 (GRCm39) |
T652A |
probably benign |
Het |
| Pom121l2 |
T |
G |
13: 22,168,338 (GRCm39) |
F870V |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,774 (GRCm39) |
D160G |
possibly damaging |
Het |
| Spa17 |
T |
C |
9: 37,514,689 (GRCm39) |
K133E |
probably damaging |
Het |
| Strbp |
T |
A |
2: 37,530,885 (GRCm39) |
D123V |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,936,180 (GRCm39) |
T3586A |
possibly damaging |
Het |
| Zfp518a |
T |
A |
19: 40,900,759 (GRCm39) |
H229Q |
probably damaging |
Het |
|
| Other mutations in 4931414P19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:4931414P19Rik
|
APN |
14 |
54,833,035 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01448:4931414P19Rik
|
APN |
14 |
54,823,417 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01934:4931414P19Rik
|
APN |
14 |
54,823,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02194:4931414P19Rik
|
APN |
14 |
54,828,812 (GRCm39) |
nonsense |
probably null |
|
|
IGL02721:4931414P19Rik
|
APN |
14 |
54,823,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03124:4931414P19Rik
|
APN |
14 |
54,832,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:4931414P19Rik
|
UTSW |
14 |
54,822,444 (GRCm39) |
nonsense |
probably null |
|
|
R3829:4931414P19Rik
|
UTSW |
14 |
54,821,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:4931414P19Rik
|
UTSW |
14 |
54,828,857 (GRCm39) |
nonsense |
probably null |
|
|
R4392:4931414P19Rik
|
UTSW |
14 |
54,822,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4680:4931414P19Rik
|
UTSW |
14 |
54,822,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4805:4931414P19Rik
|
UTSW |
14 |
54,832,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4940:4931414P19Rik
|
UTSW |
14 |
54,828,782 (GRCm39) |
missense |
probably benign |
|
|
R5091:4931414P19Rik
|
UTSW |
14 |
54,823,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:4931414P19Rik
|
UTSW |
14 |
54,823,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:4931414P19Rik
|
UTSW |
14 |
54,822,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:4931414P19Rik
|
UTSW |
14 |
54,828,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:4931414P19Rik
|
UTSW |
14 |
54,833,058 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7229:4931414P19Rik
|
UTSW |
14 |
54,832,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7616:4931414P19Rik
|
UTSW |
14 |
54,823,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTGCCAATGCTCCAGGTTATG -3'
(R):5'- TTCAATACAACGAGTGCTGGTCCC -3'
Sequencing Primer
(F):5'- CTCCAGGTTATGCAGTAAGGC -3'
(R):5'- GTCCCCGCTTATGCCAAAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation