Incidental Mutation 'R3029:A630001G21Rik'
| ID |
265896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A630001G21Rik
|
| Ensembl Gene |
ENSMUSG00000052760 |
| Gene Name |
RIKEN cDNA A630001G21 gene |
| Synonyms |
|
| MMRRC Submission |
040545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R3029 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
85644804-85664377 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85645966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 213
(I213T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064788]
[ENSMUST00000159122]
[ENSMUST00000162038]
|
| AlphaFold |
Q3UTB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064788
AA Change: I213T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070374
Gene: ENSMUSG00000052760
AA Change: I213T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
11 |
109 |
3.1e-40 |
PFAM |
|
low complexity region
|
168 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159122
AA Change: I213T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124137
Gene: ENSMUSG00000052760
AA Change: I213T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
9 |
112 |
8.3e-45 |
PFAM |
|
low complexity region
|
168 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161453
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162038
|
| SMART Domains |
Protein: ENSMUSP00000125643
Gene: ENSMUSG00000052760
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
11 |
109 |
4e-41 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a2 |
CGT |
CGTGT |
14: 59,928,914 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdk6 |
G |
A |
5: 3,440,817 (GRCm39) |
|
probably null |
Het |
| Cryab |
T |
A |
9: 50,667,638 (GRCm39) |
I124N |
probably damaging |
Het |
| E2f5 |
A |
G |
3: 14,668,725 (GRCm39) |
I206V |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,999,776 (GRCm39) |
T396A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,175,535 (GRCm39) |
Y1726C |
probably damaging |
Het |
| Gad1 |
G |
A |
2: 70,425,034 (GRCm39) |
V443I |
probably benign |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,777,543 (GRCm39) |
I141N |
possibly damaging |
Het |
| Kcnh1 |
C |
T |
1: 192,188,368 (GRCm39) |
T970M |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 71,014,456 (GRCm39) |
T265S |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,909,922 (GRCm39) |
S213P |
possibly damaging |
Het |
| Pkdrej |
C |
T |
15: 85,701,205 (GRCm39) |
R1577Q |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,042 (GRCm39) |
I5F |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,043 (GRCm39) |
F54I |
possibly damaging |
Het |
| Rgs20 |
T |
C |
1: 5,140,276 (GRCm39) |
D42G |
probably benign |
Het |
| Rxfp2 |
A |
C |
5: 149,966,595 (GRCm39) |
D111A |
probably benign |
Het |
| Sparcl1 |
T |
C |
5: 104,241,092 (GRCm39) |
T111A |
possibly damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,776 (GRCm39) |
L713F |
probably damaging |
Het |
|
| Other mutations in A630001G21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02572:A630001G21Rik
|
APN |
1 |
85,652,892 (GRCm39) |
missense |
probably damaging |
0.96 |
|
FR4737:A630001G21Rik
|
UTSW |
1 |
85,650,856 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4469001:A630001G21Rik
|
UTSW |
1 |
85,652,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0423:A630001G21Rik
|
UTSW |
1 |
85,654,187 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4417:A630001G21Rik
|
UTSW |
1 |
85,654,184 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4876:A630001G21Rik
|
UTSW |
1 |
85,646,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5592:A630001G21Rik
|
UTSW |
1 |
85,654,332 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5719:A630001G21Rik
|
UTSW |
1 |
85,651,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5780:A630001G21Rik
|
UTSW |
1 |
85,646,039 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9397:A630001G21Rik
|
UTSW |
1 |
85,653,002 (GRCm39) |
nonsense |
probably null |
|
|
X0020:A630001G21Rik
|
UTSW |
1 |
85,652,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTGTGGGTCAGAGAGAC -3'
(R):5'- CCTGTCATTCACTGAGAGCC -3'
Sequencing Primer
(F):5'- GAAAGTCTTCCTTAGCCATCCAGGG -3'
(R):5'- TGTCATTCACTGAGAGCCCTAAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation