Incidental Mutation 'R4540:Gm4353'
| ID |
333489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4353
|
| Ensembl Gene |
ENSMUSG00000091900 |
| Gene Name |
predicted gene 4353 |
| Synonyms |
|
| MMRRC Submission |
041776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R4540 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
115682602-115683793 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115683212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 123
(L123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111755]
[ENSMUST00000205427]
[ENSMUST00000205450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111755
AA Change: L123P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107385
Gene: ENSMUSG00000091900
AA Change: L123P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup35_RRM
|
166 |
251 |
8.2e-30 |
PFAM |
|
Pfam:Nup35_RRM_2
|
172 |
224 |
9.5e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205450
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
| Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
| Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
| Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
| Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
| Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
| Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
| Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
| Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
| Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
| Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
probably damaging |
Het |
|
| Other mutations in Gm4353 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Gm4353
|
APN |
7 |
115,682,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01294:Gm4353
|
APN |
7 |
115,683,077 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01478:Gm4353
|
APN |
7 |
115,682,975 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02444:Gm4353
|
APN |
7 |
115,682,679 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02537:Gm4353
|
APN |
7 |
115,682,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Gm4353
|
UTSW |
7 |
115,682,706 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1853:Gm4353
|
UTSW |
7 |
115,682,804 (GRCm39) |
missense |
probably benign |
|
|
R2061:Gm4353
|
UTSW |
7 |
115,682,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Gm4353
|
UTSW |
7 |
115,682,847 (GRCm39) |
nonsense |
probably null |
|
|
R4873:Gm4353
|
UTSW |
7 |
115,683,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Gm4353
|
UTSW |
7 |
115,683,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Gm4353
|
UTSW |
7 |
115,682,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Gm4353
|
UTSW |
7 |
115,683,693 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6061:Gm4353
|
UTSW |
7 |
115,683,504 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6237:Gm4353
|
UTSW |
7 |
115,683,134 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7177:Gm4353
|
UTSW |
7 |
115,683,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Gm4353
|
UTSW |
7 |
115,683,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7777:Gm4353
|
UTSW |
7 |
115,682,998 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7971:Gm4353
|
UTSW |
7 |
115,682,747 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8236:Gm4353
|
UTSW |
7 |
115,682,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8419:Gm4353
|
UTSW |
7 |
115,682,784 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8436:Gm4353
|
UTSW |
7 |
115,682,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9109:Gm4353
|
UTSW |
7 |
115,682,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9226:Gm4353
|
UTSW |
7 |
115,683,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9298:Gm4353
|
UTSW |
7 |
115,682,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:Gm4353
|
UTSW |
7 |
115,682,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Gm4353
|
UTSW |
7 |
115,682,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCCTGTGGAAACCCAAAC -3'
(R):5'- ATTTCATTGTTGCAGAGTCCTCTTG -3'
Sequencing Primer
(F):5'- CACAGTCACCCAAGTGTCATCTAGG -3'
(R):5'- GATCTCGTTACGGATGGT -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation