Incidental Mutation 'R2330:Gm4559'
| ID |
245837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4559
|
| Ensembl Gene |
ENSMUSG00000056885 |
| Gene Name |
predicted gene 4559 |
| Synonyms |
|
| MMRRC Submission |
040321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R2330 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
141827501-141828100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141827833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 90
(C90S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080669]
|
| AlphaFold |
A4IF42 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000080669
AA Change: C90S
|
| SMART Domains |
Protein: ENSMUSP00000079498
Gene: ENSMUSG00000056885
AA Change: C90S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
199 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,424,224 (GRCm39) |
L332P |
probably damaging |
Het |
| Gramd1c |
T |
C |
16: 43,803,566 (GRCm39) |
N616D |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
| Mex3c |
G |
A |
18: 73,706,799 (GRCm39) |
V229I |
probably damaging |
Het |
| Micall2 |
C |
G |
5: 139,703,270 (GRCm39) |
G189R |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
| Or2t45 |
A |
T |
11: 58,669,825 (GRCm39) |
S291C |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
| Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
| Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,366,378 (GRCm39) |
M219K |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,949 (GRCm39) |
Q19R |
probably benign |
Het |
| Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,775,509 (GRCm39) |
I517T |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
probably null |
Het |
|
| Other mutations in Gm4559 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03184:Gm4559
|
APN |
7 |
141,828,046 (GRCm39) |
missense |
unknown |
|
|
R1493:Gm4559
|
UTSW |
7 |
141,828,050 (GRCm39) |
nonsense |
probably null |
|
|
R1879:Gm4559
|
UTSW |
7 |
141,827,998 (GRCm39) |
missense |
unknown |
|
|
R2299:Gm4559
|
UTSW |
7 |
141,827,572 (GRCm39) |
missense |
unknown |
|
|
R2495:Gm4559
|
UTSW |
7 |
141,827,557 (GRCm39) |
missense |
unknown |
|
|
R6475:Gm4559
|
UTSW |
7 |
141,827,887 (GRCm39) |
missense |
unknown |
|
|
R6785:Gm4559
|
UTSW |
7 |
141,827,845 (GRCm39) |
missense |
unknown |
|
|
R7576:Gm4559
|
UTSW |
7 |
141,827,677 (GRCm39) |
missense |
unknown |
|
|
R7651:Gm4559
|
UTSW |
7 |
141,827,553 (GRCm39) |
missense |
unknown |
|
|
R7837:Gm4559
|
UTSW |
7 |
141,827,553 (GRCm39) |
missense |
unknown |
|
|
R8077:Gm4559
|
UTSW |
7 |
141,827,553 (GRCm39) |
missense |
unknown |
|
|
R8080:Gm4559
|
UTSW |
7 |
141,827,553 (GRCm39) |
missense |
unknown |
|
|
R8317:Gm4559
|
UTSW |
7 |
141,827,553 (GRCm39) |
small deletion |
probably benign |
|
|
R8355:Gm4559
|
UTSW |
7 |
141,827,694 (GRCm39) |
missense |
unknown |
|
|
R8455:Gm4559
|
UTSW |
7 |
141,827,694 (GRCm39) |
missense |
unknown |
|
|
R8801:Gm4559
|
UTSW |
7 |
141,827,553 (GRCm39) |
small deletion |
probably benign |
|
|
W0251:Gm4559
|
UTSW |
7 |
141,827,535 (GRCm39) |
missense |
unknown |
|
|
Z1177:Gm4559
|
UTSW |
7 |
141,827,771 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGACAACAGCAGGGCTTG -3'
(R):5'- AACCTGTGTGCTGCTGTAAGC -3'
Sequencing Primer
(F):5'- AGGGCTTGCAACAGCTG -3'
(R):5'- CTGCTGTAAGCCTGTGTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation