Incidental Mutation 'R0104:Gm136'
| ID |
64144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm136
|
| Ensembl Gene |
ENSMUSG00000071015 |
| Gene Name |
predicted gene 136 |
| Synonyms |
LOC214568 |
| MMRRC Submission |
038390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0104 (G1)
|
| Quality Score |
151 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
34743788-34756259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34746593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 139
(H139Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095129]
|
| AlphaFold |
Q3V037 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095129
AA Change: H139Q
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092748
Gene: ENSMUSG00000071015
AA Change: H139Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
coiled coil region
|
119 |
189 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
251 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1329 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnah5 |
A |
T |
15: 28,453,499 (GRCm39) |
E4423D |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,809,317 (GRCm39) |
T1879S |
possibly damaging |
Het |
| Ifrd2 |
T |
A |
9: 107,465,116 (GRCm39) |
L10H |
probably damaging |
Het |
| Itpr3 |
C |
A |
17: 27,314,966 (GRCm39) |
H704Q |
probably benign |
Het |
| Kcng1 |
A |
G |
2: 168,110,966 (GRCm39) |
I66T |
probably damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,300,619 (GRCm39) |
Y157H |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,146,807 (GRCm39) |
D443G |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,091 (GRCm39) |
N264S |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,718 (GRCm39) |
E132G |
probably benign |
Het |
| Pmpcb |
C |
G |
5: 21,951,036 (GRCm39) |
S266* |
probably null |
Het |
| Prmt7 |
T |
C |
8: 106,963,982 (GRCm39) |
I292T |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 52,000,104 (GRCm39) |
L1186S |
possibly damaging |
Het |
| Sox30 |
A |
C |
11: 45,872,141 (GRCm39) |
E332A |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,901,734 (GRCm39) |
D820G |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,809 (GRCm39) |
|
probably null |
Het |
| Zfp655 |
T |
C |
5: 145,180,825 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,575,360 (GRCm39) |
D574Y |
probably damaging |
Het |
|
| Other mutations in Gm136 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Gm136
|
APN |
4 |
34,752,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0108:Gm136
|
UTSW |
4 |
34,746,593 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1221:Gm136
|
UTSW |
4 |
34,744,127 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1635:Gm136
|
UTSW |
4 |
34,750,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1674:Gm136
|
UTSW |
4 |
34,746,662 (GRCm39) |
splice site |
probably benign |
|
|
R1971:Gm136
|
UTSW |
4 |
34,755,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2496:Gm136
|
UTSW |
4 |
34,746,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Gm136
|
UTSW |
4 |
34,755,911 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4901:Gm136
|
UTSW |
4 |
34,746,580 (GRCm39) |
nonsense |
probably null |
|
|
R5300:Gm136
|
UTSW |
4 |
34,750,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6609:Gm136
|
UTSW |
4 |
34,746,526 (GRCm39) |
missense |
probably benign |
|
|
R6709:Gm136
|
UTSW |
4 |
34,755,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6824:Gm136
|
UTSW |
4 |
34,746,591 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7098:Gm136
|
UTSW |
4 |
34,746,628 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7689:Gm136
|
UTSW |
4 |
34,743,875 (GRCm39) |
missense |
probably null |
0.00 |
|
R8249:Gm136
|
UTSW |
4 |
34,750,955 (GRCm39) |
missense |
probably benign |
|
|
R9068:Gm136
|
UTSW |
4 |
34,750,928 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAACTTGCCGATGTGCTCTCTG -3'
(R):5'- CTCCAGTAAATGTGTGTTGCTTGCC -3'
Sequencing Primer
(F):5'- GGAGTACCTTTTCTCTTCTTCGATAG -3'
(R):5'- TTAGCATCTGTGAGACCCCAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation