Incidental Mutation 'IGL03225:Mss51'
| ID |
413763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mss51
|
| Ensembl Gene |
ENSMUSG00000021815 |
| Gene Name |
MSS51 mitochondrial translational activator |
| Synonyms |
Zmynd17, 4833444M15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
IGL03225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20532935-20546969 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 20537205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 88
(R88*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022353]
|
| AlphaFold |
Q9D5Z5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022353
AA Change: R88*
|
| SMART Domains |
Protein: ENSMUSP00000022353
Gene: ENSMUSG00000021815
AA Change: R88*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
104 |
148 |
3.4e-12 |
PFAM |
|
low complexity region
|
308 |
317 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,668 (GRCm39) |
K234R |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,043 (GRCm39) |
E573G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,286,386 (GRCm39) |
I673F |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,224,543 (GRCm39) |
I1431N |
probably damaging |
Het |
| Cask |
A |
G |
X: 13,531,760 (GRCm39) |
M103V |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,211 (GRCm39) |
Y283H |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,875,150 (GRCm39) |
E729G |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,641,881 (GRCm39) |
T249A |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,761 (GRCm39) |
S54P |
probably damaging |
Het |
| Krt20 |
A |
G |
11: 99,322,756 (GRCm39) |
V293A |
probably damaging |
Het |
| Lonrf1 |
A |
G |
8: 36,689,855 (GRCm39) |
V706A |
probably damaging |
Het |
| Lrrc58 |
T |
G |
16: 37,701,632 (GRCm39) |
C303W |
probably damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,875 (GRCm39) |
T138A |
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,924,423 (GRCm39) |
S146T |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,633 (GRCm39) |
R491H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Sgtb |
T |
C |
13: 104,268,453 (GRCm39) |
L163P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,110,045 (GRCm39) |
I365T |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,133 (GRCm39) |
I33M |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,902,781 (GRCm39) |
I227V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,903,857 (GRCm39) |
T22A |
probably benign |
Het |
|
| Other mutations in Mss51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Mss51
|
APN |
14 |
20,536,235 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02138:Mss51
|
APN |
14 |
20,534,923 (GRCm39) |
nonsense |
probably null |
|
|
IGL03137:Mss51
|
APN |
14 |
20,537,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03194:Mss51
|
APN |
14 |
20,535,165 (GRCm39) |
missense |
probably benign |
|
|
R0119:Mss51
|
UTSW |
14 |
20,534,756 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0299:Mss51
|
UTSW |
14 |
20,534,756 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0336:Mss51
|
UTSW |
14 |
20,533,254 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0499:Mss51
|
UTSW |
14 |
20,534,756 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0619:Mss51
|
UTSW |
14 |
20,537,641 (GRCm39) |
missense |
probably benign |
|
|
R0729:Mss51
|
UTSW |
14 |
20,533,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Mss51
|
UTSW |
14 |
20,533,246 (GRCm39) |
nonsense |
probably null |
|
|
R1863:Mss51
|
UTSW |
14 |
20,534,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1986:Mss51
|
UTSW |
14 |
20,533,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2137:Mss51
|
UTSW |
14 |
20,537,591 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5611:Mss51
|
UTSW |
14 |
20,533,174 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7272:Mss51
|
UTSW |
14 |
20,534,981 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8325:Mss51
|
UTSW |
14 |
20,534,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8923:Mss51
|
UTSW |
14 |
20,537,177 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9323:Mss51
|
UTSW |
14 |
20,534,939 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9675:Mss51
|
UTSW |
14 |
20,537,189 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Mss51
|
UTSW |
14 |
20,536,214 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation