Incidental Mutation 'R2764:Gm9923'
| ID |
254208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm9923
|
| Ensembl Gene |
ENSMUSG00000053830 |
| Gene Name |
predicted pseudogene 9923 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R2764 (G1)
|
| Quality Score |
143 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
72145151-72146986 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72145460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 104
(H104N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061324]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061324
AA Change: H104N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135902
Gene: ENSMUSG00000019977
AA Change: H104N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HBS1_N
|
10 |
125 |
1.5e-22 |
PFAM |
|
low complexity region
|
311 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217785
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,324,791 (GRCm39) |
D554E |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Bcl2 |
C |
T |
1: 106,640,166 (GRCm39) |
E149K |
probably damaging |
Het |
| Clcn4 |
G |
T |
7: 7,299,798 (GRCm39) |
D10E |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,721,619 (GRCm39) |
F387L |
possibly damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,278,310 (GRCm39) |
P1671S |
probably damaging |
Het |
| Htr1d |
G |
A |
4: 136,170,376 (GRCm39) |
A202T |
possibly damaging |
Het |
| Ighv9-3 |
T |
A |
12: 114,104,490 (GRCm39) |
Q58L |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,422,194 (GRCm39) |
K835E |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Mrps30 |
A |
G |
13: 118,521,124 (GRCm39) |
Y272H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,219,113 (GRCm39) |
M75V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,621,439 (GRCm39) |
Y13921F |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vac14 |
T |
C |
8: 111,437,087 (GRCm39) |
F600S |
probably damaging |
Het |
|
| Other mutations in Gm9923 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1797:Gm9923
|
UTSW |
10 |
72,145,593 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1956:Gm9923
|
UTSW |
10 |
72,145,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2762:Gm9923
|
UTSW |
10 |
72,145,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4684:Gm9923
|
UTSW |
10 |
72,145,306 (GRCm39) |
nonsense |
probably null |
|
|
R4729:Gm9923
|
UTSW |
10 |
72,145,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTCATTTACTCACGCCG -3'
(R):5'- CAAAAGGTTTGCTACTGCTATCC -3'
Sequencing Primer
(F):5'- TTTACTCACGCCGTGACAAC -3'
(R):5'- GGTTTGCTACTGCTATCCAAATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation