Incidental Mutation 'R3052:B430306N03Rik'
| ID |
265010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B430306N03Rik
|
| Ensembl Gene |
ENSMUSG00000043740 |
| Gene Name |
RIKEN cDNA B430306N03 gene |
| Synonyms |
|
| MMRRC Submission |
040561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3052 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48622310-48632580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48623938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 80
(S80P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049614]
[ENSMUST00000125174]
[ENSMUST00000129825]
[ENSMUST00000170941]
|
| AlphaFold |
Q6QX36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049614
AA Change: S80P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054890
Gene: ENSMUSG00000043740
AA Change: S80P
| 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 |
probably damaging
Transcript: ENSMUST00000125174
AA Change: S80P
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120251
Gene: ENSMUSG00000043740
AA Change: S80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
IG
|
26 |
122 |
2.96e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129825
AA Change: S80P
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122378
Gene: ENSMUSG00000043740
AA Change: S80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
IG
|
26 |
122 |
2.96e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170941
|
| SMART Domains |
Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
31 |
129 |
3.13e-5 |
SMART |
|
low complexity region
|
181 |
199 |
N/A |
INTRINSIC |
|
transmembrane domain
|
268 |
290 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Ampd2 |
C |
T |
3: 107,993,803 (GRCm39) |
|
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,686,179 (GRCm39) |
E668G |
probably benign |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Banp |
G |
A |
8: 122,732,426 (GRCm39) |
|
probably null |
Het |
| Capn2 |
G |
A |
1: 182,315,337 (GRCm39) |
T306M |
probably benign |
Het |
| Ccpg1 |
A |
T |
9: 72,913,150 (GRCm39) |
S229C |
probably damaging |
Het |
| Cep250 |
G |
T |
2: 155,832,968 (GRCm39) |
S1630I |
probably damaging |
Het |
| Ces1g |
C |
A |
8: 94,061,676 (GRCm39) |
V77L |
possibly damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,729,852 (GRCm39) |
H1211L |
possibly damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Gm10384 |
A |
G |
15: 36,871,996 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
C |
1: 59,672,299 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
C |
T |
14: 57,668,025 (GRCm39) |
P9S |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,845,635 (GRCm39) |
L172P |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,739,613 (GRCm39) |
I119F |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,462,153 (GRCm39) |
E1428G |
possibly damaging |
Het |
| Or12e7 |
C |
A |
2: 87,288,247 (GRCm39) |
T246K |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,820 (GRCm39) |
D124G |
possibly damaging |
Het |
| Ppp3ca |
T |
G |
3: 136,503,605 (GRCm39) |
S59R |
probably benign |
Het |
| Rsu1 |
A |
G |
2: 13,174,946 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,033,370 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Sc5d |
G |
T |
9: 42,166,866 (GRCm39) |
N224K |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt3a1 |
G |
T |
15: 9,365,374 (GRCm39) |
W329L |
probably damaging |
Het |
| Unk |
T |
C |
11: 115,940,949 (GRCm39) |
Y237H |
probably benign |
Het |
| Vcam1 |
A |
C |
3: 115,918,079 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zc3h12c |
A |
T |
9: 52,055,356 (GRCm39) |
L132Q |
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 |
|
R3695:B430306N03Rik
|
UTSW |
17 |
48,626,194 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- AACATTTATTCCCAGGCTCCTG -3'
(R):5'- AGGAAGCTGTTTCTTGAGTCC -3'
Sequencing Primer
(F):5'- TGGACACAGAAACCAGAGTTACTTCG -3'
(R):5'- ACTCTGGAGCCTTGCAACTCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation