Incidental Mutation 'R3695:B430306N03Rik'
ID |
268958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B430306N03Rik
|
Ensembl Gene |
ENSMUSG00000043740 |
Gene Name |
RIKEN cDNA B430306N03 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R3695 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
48622310-48632580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 48626194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 129
(T129I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049614]
[ENSMUST00000125174]
[ENSMUST00000129825]
|
AlphaFold |
Q6QX36 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049614
AA Change: T129I
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000054890 Gene: ENSMUSG00000043740 AA Change: T129I
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
IG
|
26 |
122 |
2.96e-6 |
SMART |
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124205
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125174
AA Change: T129I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120251 Gene: ENSMUSG00000043740 AA Change: T129I
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
IG
|
26 |
122 |
2.96e-6 |
SMART |
|
Predicted Effect |
silent
Transcript: ENSMUST00000129825
|
SMART Domains |
Protein: ENSMUSP00000122378 Gene: ENSMUSG00000043740
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
IG
|
26 |
122 |
2.96e-6 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atxn7l1 |
A |
G |
12: 33,408,696 (GRCm39) |
N286S |
probably damaging |
Het |
Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
Gabrr2 |
A |
G |
4: 33,071,430 (GRCm39) |
D65G |
probably damaging |
Het |
Grin3a |
G |
T |
4: 49,792,704 (GRCm39) |
T343K |
possibly damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,882,403 (GRCm39) |
D97G |
probably damaging |
Het |
Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
Mdm4 |
A |
G |
1: 132,919,731 (GRCm39) |
L379S |
probably benign |
Het |
Or8j3c |
T |
C |
2: 86,253,987 (GRCm39) |
E11G |
probably damaging |
Het |
Or8k40 |
A |
T |
2: 86,584,215 (GRCm39) |
I289N |
probably damaging |
Het |
Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,066,888 (GRCm39) |
F154S |
probably damaging |
Het |
St3gal2 |
A |
G |
8: 111,688,973 (GRCm39) |
D171G |
probably damaging |
Het |
Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
Syk |
A |
G |
13: 52,776,801 (GRCm39) |
|
probably null |
Het |
Tgs1 |
A |
G |
4: 3,604,949 (GRCm39) |
|
probably null |
Het |
Tlr5 |
A |
T |
1: 182,802,912 (GRCm39) |
R739W |
probably damaging |
Het |
Tns2 |
G |
T |
15: 102,021,184 (GRCm39) |
V942L |
probably null |
Het |
Tsnaxip1 |
A |
G |
8: 106,560,167 (GRCm39) |
T40A |
possibly damaging |
Het |
Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
Wscd2 |
T |
A |
5: 113,689,078 (GRCm39) |
I28N |
possibly damaging |
Het |
|
Other mutations in B430306N03Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01404:B430306N03Rik
|
APN |
17 |
48,628,101 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02149:B430306N03Rik
|
APN |
17 |
48,624,020 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02221:B430306N03Rik
|
APN |
17 |
48,631,223 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03112:B430306N03Rik
|
APN |
17 |
48,623,834 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03223:B430306N03Rik
|
APN |
17 |
48,623,896 (GRCm39) |
missense |
probably damaging |
1.00 |
1mM(1):B430306N03Rik
|
UTSW |
17 |
48,629,431 (GRCm39) |
splice site |
probably benign |
|
R1917:B430306N03Rik
|
UTSW |
17 |
48,631,176 (GRCm39) |
missense |
probably benign |
0.44 |
R2086:B430306N03Rik
|
UTSW |
17 |
48,623,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R3052:B430306N03Rik
|
UTSW |
17 |
48,623,938 (GRCm39) |
missense |
probably damaging |
0.98 |
R6319:B430306N03Rik
|
UTSW |
17 |
48,623,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R6453:B430306N03Rik
|
UTSW |
17 |
48,623,764 (GRCm39) |
missense |
probably damaging |
0.97 |
R6523:B430306N03Rik
|
UTSW |
17 |
48,626,193 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7140:B430306N03Rik
|
UTSW |
17 |
48,629,483 (GRCm39) |
nonsense |
probably null |
|
R7905:B430306N03Rik
|
UTSW |
17 |
48,623,988 (GRCm39) |
missense |
probably benign |
0.10 |
R7973:B430306N03Rik
|
UTSW |
17 |
48,623,483 (GRCm39) |
missense |
probably benign |
0.09 |
R8907:B430306N03Rik
|
UTSW |
17 |
48,628,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAACACAGCATTGGTTTTCTG -3'
(R):5'- TGTGAGGTCTCAGGTTCAAC -3'
Sequencing Primer
(F):5'- ACACAGCATTGGTTTTCTGTGCAG -3'
(R):5'- TCAGAAGTGACTATCTGACTCCG -3'
|
Posted On |
2015-02-19 |