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 |
Incidental Mutation