Incidental Mutation 'R6559:4930522H14Rik'
ID |
521937 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930522H14Rik
|
Ensembl Gene |
ENSMUSG00000060491 |
Gene Name |
RIKEN cDNA 4930522H14 gene |
Synonyms |
|
MMRRC Submission |
044683-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R6559 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
109362534-109388494 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 109363002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 106
(V106I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082306]
[ENSMUST00000102725]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082306
AA Change: V102I
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000080923 Gene: ENSMUSG00000060491 AA Change: V102I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
low complexity region
|
84 |
95 |
N/A |
INTRINSIC |
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102725
AA Change: V106I
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099786 Gene: ENSMUSG00000060491 AA Change: V106I
Domain | Start | End | E-Value | Type |
Pfam:DUF4718
|
6 |
190 |
2.1e-105 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
T |
C |
7: 28,606,461 (GRCm39) |
K284R |
possibly damaging |
Het |
Adam20 |
G |
C |
8: 41,249,329 (GRCm39) |
E480Q |
probably benign |
Het |
Cdkl3 |
A |
G |
11: 51,916,696 (GRCm39) |
T275A |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,139,501 (GRCm39) |
I1378T |
possibly damaging |
Het |
Fam186a |
A |
G |
15: 99,842,356 (GRCm39) |
I1296T |
possibly damaging |
Het |
Fbf1 |
G |
A |
11: 116,046,272 (GRCm39) |
T193M |
probably benign |
Het |
Fcrl1 |
A |
G |
3: 87,298,560 (GRCm39) |
I352V |
probably benign |
Het |
Ifit3 |
T |
C |
19: 34,564,514 (GRCm39) |
F20S |
probably damaging |
Het |
Klhl3 |
G |
A |
13: 58,164,290 (GRCm39) |
R431W |
probably damaging |
Het |
Lipi |
A |
G |
16: 75,337,982 (GRCm39) |
V464A |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,490,217 (GRCm39) |
I120M |
probably damaging |
Het |
Mst1r |
A |
G |
9: 107,785,470 (GRCm39) |
N376S |
possibly damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,220,841 (GRCm39) |
|
probably null |
Het |
Odad2 |
T |
C |
18: 7,223,664 (GRCm39) |
T460A |
probably damaging |
Het |
Or6c215 |
A |
T |
10: 129,637,533 (GRCm39) |
I287N |
probably damaging |
Het |
Or8c10 |
A |
G |
9: 38,279,052 (GRCm39) |
Y60C |
probably damaging |
Het |
Teddm1a |
A |
T |
1: 153,768,111 (GRCm39) |
I192F |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,882,996 (GRCm39) |
S190P |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,223,208 (GRCm39) |
|
probably null |
Het |
Zfp112 |
C |
T |
7: 23,825,888 (GRCm39) |
Q619* |
probably null |
Het |
Zscan4-ps3 |
A |
G |
7: 11,344,339 (GRCm39) |
E99G |
probably damaging |
Het |
|
Other mutations in 4930522H14Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0363:4930522H14Rik
|
UTSW |
4 |
109,381,520 (GRCm39) |
missense |
probably null |
|
R1460:4930522H14Rik
|
UTSW |
4 |
109,388,407 (GRCm39) |
critical splice donor site |
probably null |
|
R1489:4930522H14Rik
|
UTSW |
4 |
109,362,654 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1647:4930522H14Rik
|
UTSW |
4 |
109,362,768 (GRCm39) |
missense |
probably damaging |
0.97 |
R5481:4930522H14Rik
|
UTSW |
4 |
109,362,759 (GRCm39) |
missense |
probably damaging |
0.97 |
R5658:4930522H14Rik
|
UTSW |
4 |
109,362,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R7387:4930522H14Rik
|
UTSW |
4 |
109,362,774 (GRCm39) |
missense |
probably damaging |
0.99 |
R7838:4930522H14Rik
|
UTSW |
4 |
109,362,776 (GRCm39) |
missense |
probably damaging |
0.99 |
R8193:4930522H14Rik
|
UTSW |
4 |
109,381,529 (GRCm39) |
missense |
probably benign |
|
R9731:4930522H14Rik
|
UTSW |
4 |
109,362,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGAATCCTGGTTTCTAGACAATC -3'
(R):5'- TACCCCTGAAAAGAGCCTTAAG -3'
Sequencing Primer
(F):5'- ATCATCAGTAAGCCAGTCTTCGG -3'
(R):5'- CTTGTCAGCTAAGCATAGTGGCAC -3'
|
Posted On |
2018-06-06 |