Incidental Mutation 'R0899:5031439G07Rik'
ID |
83813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
5031439G07Rik
|
Ensembl Gene |
ENSMUSG00000036046 |
Gene Name |
RIKEN cDNA 5031439G07 gene |
Synonyms |
|
MMRRC Submission |
039059-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0899 (G1)
|
Quality Score |
114 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84828137-84872503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84833459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 442
(K442E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128699
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047144]
[ENSMUST00000165743]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047144
AA Change: K399E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037011 Gene: ENSMUSG00000036046 AA Change: K399E
Domain | Start | End | E-Value | Type |
Pfam:DUF2045
|
25 |
264 |
7.4e-123 |
PFAM |
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116791
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124308
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165743
AA Change: K442E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128699 Gene: ENSMUSG00000036046 AA Change: K442E
Domain | Start | End | E-Value | Type |
Pfam:DUF2045
|
71 |
305 |
7.3e-103 |
PFAM |
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
Afg3l2 |
T |
C |
18: 67,556,047 (GRCm39) |
N428S |
possibly damaging |
Het |
Aqp12 |
G |
A |
1: 92,934,332 (GRCm39) |
D70N |
probably damaging |
Het |
Astn1 |
T |
A |
1: 158,338,679 (GRCm39) |
C475* |
probably null |
Het |
Atp2b1 |
G |
A |
10: 98,852,893 (GRCm39) |
|
probably null |
Het |
Cbln2 |
T |
C |
18: 86,734,877 (GRCm39) |
S217P |
possibly damaging |
Het |
Ces2h |
T |
C |
8: 105,741,182 (GRCm39) |
L58P |
probably damaging |
Het |
Cfap43 |
C |
T |
19: 47,736,433 (GRCm39) |
G1353R |
possibly damaging |
Het |
Crcp |
A |
G |
5: 130,088,672 (GRCm39) |
M91V |
probably benign |
Het |
Cubn |
A |
G |
2: 13,367,139 (GRCm39) |
V1577A |
possibly damaging |
Het |
Dthd1 |
A |
G |
5: 63,000,271 (GRCm39) |
H531R |
probably benign |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Fam3d |
A |
G |
14: 8,364,863 (GRCm38) |
I16T |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,147,051 (GRCm39) |
G3982S |
probably damaging |
Het |
Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
Fcnb |
T |
A |
2: 27,966,791 (GRCm39) |
K247N |
probably damaging |
Het |
Gtf2a1l |
A |
G |
17: 88,976,152 (GRCm39) |
N5S |
|
Het |
Htr3a |
T |
A |
9: 48,812,752 (GRCm39) |
D229V |
possibly damaging |
Het |
Ipo11 |
A |
C |
13: 107,037,324 (GRCm39) |
L173* |
probably null |
Het |
Jam3 |
C |
A |
9: 27,010,253 (GRCm39) |
G244W |
probably damaging |
Het |
Lypd11 |
C |
T |
7: 24,422,737 (GRCm39) |
R112H |
probably benign |
Het |
Mrpl52 |
C |
T |
14: 54,664,541 (GRCm39) |
R12* |
probably null |
Het |
Myo15a |
A |
G |
11: 60,368,011 (GRCm39) |
Y257C |
possibly damaging |
Het |
Myocd |
G |
A |
11: 65,086,018 (GRCm39) |
P215L |
possibly damaging |
Het |
Ndst1 |
T |
C |
18: 60,840,954 (GRCm39) |
T243A |
probably benign |
Het |
Obox5 |
A |
T |
7: 15,492,800 (GRCm39) |
T252S |
probably benign |
Het |
Or5m13b |
A |
G |
2: 85,753,731 (GRCm39) |
T40A |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,301 (GRCm39) |
F183L |
probably damaging |
Het |
Or7g34 |
A |
C |
9: 19,477,843 (GRCm39) |
V276G |
probably damaging |
Het |
Osbpl1a |
T |
C |
18: 12,890,747 (GRCm39) |
S377G |
possibly damaging |
Het |
Pfkl |
A |
G |
10: 77,841,273 (GRCm39) |
|
probably null |
Het |
Prdm16 |
A |
T |
4: 154,613,366 (GRCm39) |
N20K |
probably damaging |
Het |
Prkd1 |
A |
G |
12: 50,431,976 (GRCm39) |
I589T |
probably damaging |
Het |
Scnn1b |
G |
A |
7: 121,516,938 (GRCm39) |
G525S |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,718,329 (GRCm39) |
|
probably benign |
Het |
Wap |
T |
C |
11: 6,586,725 (GRCm39) |
T125A |
probably benign |
Het |
Wdr86 |
C |
T |
5: 24,923,005 (GRCm39) |
R229Q |
probably benign |
Het |
|
Other mutations in 5031439G07Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00910:5031439G07Rik
|
APN |
15 |
84,840,020 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02752:5031439G07Rik
|
APN |
15 |
84,840,042 (GRCm39) |
nonsense |
probably null |
|
R0269:5031439G07Rik
|
UTSW |
15 |
84,838,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1302:5031439G07Rik
|
UTSW |
15 |
84,837,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1442:5031439G07Rik
|
UTSW |
15 |
84,839,833 (GRCm39) |
splice site |
probably benign |
|
R1468:5031439G07Rik
|
UTSW |
15 |
84,837,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:5031439G07Rik
|
UTSW |
15 |
84,837,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R2299:5031439G07Rik
|
UTSW |
15 |
84,837,486 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5721:5031439G07Rik
|
UTSW |
15 |
84,844,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R5912:5031439G07Rik
|
UTSW |
15 |
84,839,897 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5971:5031439G07Rik
|
UTSW |
15 |
84,871,863 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6131:5031439G07Rik
|
UTSW |
15 |
84,844,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6981:5031439G07Rik
|
UTSW |
15 |
84,833,798 (GRCm39) |
nonsense |
probably null |
|
R7173:5031439G07Rik
|
UTSW |
15 |
84,833,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7220:5031439G07Rik
|
UTSW |
15 |
84,837,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R7554:5031439G07Rik
|
UTSW |
15 |
84,839,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:5031439G07Rik
|
UTSW |
15 |
84,834,963 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8218:5031439G07Rik
|
UTSW |
15 |
84,839,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:5031439G07Rik
|
UTSW |
15 |
84,871,836 (GRCm39) |
missense |
probably benign |
|
R8501:5031439G07Rik
|
UTSW |
15 |
84,844,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:5031439G07Rik
|
UTSW |
15 |
84,839,867 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9032:5031439G07Rik
|
UTSW |
15 |
84,844,782 (GRCm39) |
missense |
probably benign |
0.34 |
Z1177:5031439G07Rik
|
UTSW |
15 |
84,834,843 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACCCACTGTGACAAGAACTCTG -3'
(R):5'- ATCCATGCATCTCCGTTGCTGG -3'
Sequencing Primer
(F):5'- AGGACGAGGCACTTCAGTTTG -3'
(R):5'- CTGGCATGGGAGGGTAGG -3'
|
Posted On |
2013-11-08 |