Incidental Mutation 'IGL00694:Potegl'
| ID |
8477 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Potegl
|
| Ensembl Gene |
ENSMUSG00000026774 |
| Gene Name |
POTE ankyrin domain family, member G like |
| Synonyms |
4931423N10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL00694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23097488-23157141 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23120180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 192
(Q192L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028113]
[ENSMUST00000114505]
|
| AlphaFold |
Q9D4J9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028113
AA Change: Q250L
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028113
Gene: ENSMUSG00000026774
AA Change: Q250L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
62 |
92 |
7e-15 |
BLAST |
|
ANK
|
96 |
125 |
6.71e-2 |
SMART |
|
ANK
|
129 |
158 |
1.3e1 |
SMART |
|
ANK
|
162 |
191 |
1.01e-5 |
SMART |
|
ANK
|
195 |
224 |
2.88e-1 |
SMART |
|
ANK
|
228 |
257 |
1.93e-2 |
SMART |
|
ANK
|
261 |
290 |
1.09e3 |
SMART |
|
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114505
AA Change: Q192L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110150
Gene: ENSMUSG00000026774
AA Change: Q192L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
62 |
92 |
4e-15 |
BLAST |
|
ANK
|
96 |
125 |
6.71e-2 |
SMART |
|
ANK
|
137 |
166 |
2.88e-1 |
SMART |
|
ANK
|
170 |
199 |
1.93e-2 |
SMART |
|
ANK
|
203 |
232 |
1.09e3 |
SMART |
|
low complexity region
|
282 |
293 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,145,033 (GRCm39) |
|
probably benign |
Het |
| Aqr |
A |
T |
2: 113,982,006 (GRCm39) |
D259E |
probably damaging |
Het |
| Arl14ep |
A |
T |
2: 106,797,537 (GRCm39) |
F153L |
probably damaging |
Het |
| Asb15 |
G |
T |
6: 24,570,663 (GRCm39) |
R547L |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,455,427 (GRCm39) |
V1020G |
probably damaging |
Het |
| Coq2 |
C |
T |
5: 100,803,180 (GRCm39) |
S370N |
probably benign |
Het |
| Crebl2 |
T |
A |
6: 134,826,158 (GRCm39) |
S36R |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,310,079 (GRCm39) |
T263S |
possibly damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,562 (GRCm39) |
I190T |
possibly damaging |
Het |
| Fbn2 |
T |
G |
18: 58,170,881 (GRCm39) |
E2170A |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,761,500 (GRCm39) |
*129C |
probably null |
Het |
| Hc |
T |
C |
2: 34,881,641 (GRCm39) |
I1436V |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,498,159 (GRCm39) |
F534I |
probably damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,057,925 (GRCm39) |
R800Q |
probably benign |
Het |
| Npat |
A |
G |
9: 53,474,817 (GRCm39) |
T870A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,511,204 (GRCm39) |
I127N |
probably damaging |
Het |
| Spag1 |
A |
T |
15: 36,227,317 (GRCm39) |
E658V |
possibly damaging |
Het |
| St3gal2 |
A |
T |
8: 111,696,213 (GRCm39) |
H266L |
probably damaging |
Het |
| Sult6b2 |
A |
G |
6: 142,736,015 (GRCm39) |
I193T |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,238 (GRCm39) |
F107L |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,989,744 (GRCm39) |
D475G |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,155,993 (GRCm39) |
R169S |
probably damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,156 (GRCm39) |
N175S |
probably benign |
Het |
|
| Other mutations in Potegl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02141:Potegl
|
APN |
2 |
23,120,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Potegl
|
APN |
2 |
23,102,667 (GRCm39) |
intron |
probably benign |
|
|
IGL03328:Potegl
|
APN |
2 |
23,102,817 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0467:Potegl
|
UTSW |
2 |
23,102,832 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0723:Potegl
|
UTSW |
2 |
23,146,936 (GRCm39) |
splice site |
probably benign |
|
|
R1169:Potegl
|
UTSW |
2 |
23,146,994 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1507:Potegl
|
UTSW |
2 |
23,098,086 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4965:Potegl
|
UTSW |
2 |
23,135,127 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5198:Potegl
|
UTSW |
2 |
23,102,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Potegl
|
UTSW |
2 |
23,147,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5677:Potegl
|
UTSW |
2 |
23,102,730 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5715:Potegl
|
UTSW |
2 |
23,097,989 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6123:Potegl
|
UTSW |
2 |
23,120,134 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6263:Potegl
|
UTSW |
2 |
23,156,745 (GRCm39) |
unclassified |
probably benign |
|
|
R6858:Potegl
|
UTSW |
2 |
23,102,676 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7427:Potegl
|
UTSW |
2 |
23,147,006 (GRCm39) |
missense |
probably benign |
|
|
R7577:Potegl
|
UTSW |
2 |
23,097,837 (GRCm39) |
missense |
probably benign |
|
|
R8086:Potegl
|
UTSW |
2 |
23,130,934 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8342:Potegl
|
UTSW |
2 |
23,147,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8495:Potegl
|
UTSW |
2 |
23,097,852 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8547:Potegl
|
UTSW |
2 |
23,120,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation