Incidental Mutation 'R2194:Gm8104'
| ID |
238305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm8104
|
| Ensembl Gene |
ENSMUSG00000096446 |
| Gene Name |
predicted gene 8104 |
| Synonyms |
|
| MMRRC Submission |
040196-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R2194 (G1)
|
| Quality Score |
83 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
42958058-42972647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42959017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 69
(M69T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168165]
|
| AlphaFold |
K7N744 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168165
AA Change: M69T
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132509
Gene: ENSMUSG00000096446
AA Change: M69T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
48 |
128 |
2.7e-27 |
PFAM |
|
coiled coil region
|
148 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225570
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh2 |
T |
C |
18: 16,773,505 (GRCm39) |
T275A |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,657,001 (GRCm39) |
D72G |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,740,909 (GRCm39) |
E1391G |
probably benign |
Het |
| Hif1a |
A |
G |
12: 73,977,521 (GRCm39) |
N183S |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,425,347 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,116 (GRCm39) |
D768G |
probably benign |
Het |
| Kitl |
T |
G |
10: 99,851,899 (GRCm39) |
|
probably null |
Het |
| Mfsd4b4 |
T |
A |
10: 39,768,919 (GRCm39) |
N104I |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2t49 |
T |
C |
11: 58,392,468 (GRCm39) |
K305E |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,788 (GRCm39) |
V366A |
probably damaging |
Het |
| Polb |
C |
T |
8: 23,137,483 (GRCm39) |
R89H |
probably benign |
Het |
| Rfc4 |
TTTGTTGTTGTTG |
TTTGTTGTTG |
16: 22,932,902 (GRCm39) |
|
probably benign |
Het |
| Rnf40 |
C |
A |
7: 127,196,407 (GRCm39) |
A785D |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,942,718 (GRCm39) |
E494G |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,409 (GRCm39) |
E1112G |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,805 (GRCm39) |
E625G |
possibly damaging |
Het |
|
| Other mutations in Gm8104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01948:Gm8104
|
APN |
14 |
42,966,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4548:Gm8104
|
UTSW |
14 |
42,967,468 (GRCm39) |
missense |
probably damaging |
0.98 |
|
FR4548:Gm8104
|
UTSW |
14 |
42,967,466 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1800:Gm8104
|
UTSW |
14 |
42,959,028 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4207:Gm8104
|
UTSW |
14 |
42,959,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Gm8104
|
UTSW |
14 |
42,966,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5230:Gm8104
|
UTSW |
14 |
42,958,975 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6339:Gm8104
|
UTSW |
14 |
42,958,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7357:Gm8104
|
UTSW |
14 |
42,959,068 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7452:Gm8104
|
UTSW |
14 |
42,967,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCTCAAATATAGCCTTTCTGC -3'
(R):5'- GTGAGAGATGACACACTCCATTATG -3'
Sequencing Primer
(F):5'- TCAGTGATTAATCCTGTCTCTAGC -3'
(R):5'- CACTCCATTATGAGAGAAAATGTGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation