Incidental Mutation 'R6061:Gm4353'
ID |
483236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4353
|
Ensembl Gene |
ENSMUSG00000091900 |
Gene Name |
predicted gene 4353 |
Synonyms |
|
MMRRC Submission |
044226-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
R6061 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
115682602-115683793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115683504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 97
(D97V)
|
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: D97V
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000107385 Gene: ENSMUSG00000091900 AA Change: D97V
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
C |
6: 128,545,675 (GRCm39) |
F484C |
probably damaging |
Het |
Aoc1l1 |
A |
C |
6: 48,953,535 (GRCm39) |
I487L |
probably benign |
Het |
Cdsn |
A |
G |
17: 35,865,803 (GRCm39) |
S111G |
unknown |
Het |
Ctnnal1 |
T |
C |
4: 56,812,349 (GRCm39) |
T726A |
probably benign |
Het |
Cyp2j11 |
T |
A |
4: 96,236,853 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
T |
A |
8: 62,476,275 (GRCm39) |
M1541K |
probably null |
Het |
Dnah14 |
C |
T |
1: 181,536,616 (GRCm39) |
P2420S |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,573,435 (GRCm38) |
E205G |
probably benign |
Het |
Glipr1l1 |
C |
T |
10: 111,912,075 (GRCm39) |
T203M |
probably benign |
Het |
Gprc6a |
A |
T |
10: 51,491,907 (GRCm39) |
I543K |
probably damaging |
Het |
Ifi205 |
T |
C |
1: 173,854,830 (GRCm39) |
T110A |
possibly damaging |
Het |
Med27 |
T |
A |
2: 29,399,453 (GRCm39) |
S95T |
probably damaging |
Het |
Mocs1 |
T |
C |
17: 49,757,341 (GRCm39) |
S308P |
probably damaging |
Het |
Mrpl11 |
C |
T |
19: 5,013,397 (GRCm39) |
S88F |
possibly damaging |
Het |
Nav3 |
A |
T |
10: 109,702,845 (GRCm39) |
Y229* |
probably null |
Het |
Or2f1b |
A |
T |
6: 42,739,899 (GRCm39) |
L304F |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,585,772 (GRCm39) |
M37V |
probably benign |
Het |
Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
Or52r1 |
C |
A |
7: 102,537,158 (GRCm39) |
L67F |
probably benign |
Het |
Or5g27 |
T |
A |
2: 85,409,886 (GRCm39) |
M101K |
possibly damaging |
Het |
Pear1 |
A |
G |
3: 87,663,238 (GRCm39) |
I460T |
probably benign |
Het |
Phc3 |
T |
A |
3: 30,968,678 (GRCm39) |
K816N |
probably damaging |
Het |
Phf19 |
T |
A |
2: 34,787,129 (GRCm39) |
D445V |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,563,742 (GRCm39) |
F486L |
probably damaging |
Het |
Plagl1 |
G |
T |
10: 13,003,639 (GRCm39) |
|
probably benign |
Het |
Prkca |
A |
G |
11: 107,948,671 (GRCm39) |
I106T |
probably benign |
Het |
Ptpn3 |
C |
T |
4: 57,248,681 (GRCm39) |
G218R |
probably damaging |
Het |
Ptx3 |
A |
G |
3: 66,132,130 (GRCm39) |
D217G |
possibly damaging |
Het |
Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
Rfx2 |
A |
G |
17: 57,084,473 (GRCm39) |
F642S |
possibly damaging |
Het |
Rhpn2 |
T |
A |
7: 35,075,636 (GRCm39) |
M271K |
possibly damaging |
Het |
Serpinb6b |
A |
G |
13: 33,161,977 (GRCm39) |
T259A |
probably damaging |
Het |
Speer3 |
G |
A |
5: 13,844,705 (GRCm39) |
V123M |
possibly damaging |
Het |
Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
Thbs4 |
A |
G |
13: 92,888,303 (GRCm39) |
F950L |
probably benign |
Het |
Tiparp |
T |
C |
3: 65,460,664 (GRCm39) |
V551A |
probably damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,268,482 (GRCm39) |
D228E |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,531 (GRCm39) |
I269V |
probably benign |
Het |
Vps9d1 |
A |
T |
8: 123,972,410 (GRCm39) |
M497K |
probably damaging |
Het |
Wnt5b |
A |
G |
6: 119,410,603 (GRCm39) |
V241A |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,228,342 (GRCm39) |
N353S |
probably damaging |
Het |
Zfp526 |
C |
T |
7: 24,925,757 (GRCm39) |
T672M |
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 |
R4540:Gm4353
|
UTSW |
7 |
115,683,212 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- CTGGACTAAACATGCTTTGCCC -3'
(R):5'- GATCTACCAGCTCCAGTGAC -3'
Sequencing Primer
(F):5'- TTGTAGCTCCAACAAGAGGACTCTG -3'
(R):5'- CTCCGCAACCTCGATCAATTAGTG -3'
|
Posted On |
2017-07-14 |