Incidental Mutation 'IGL01086:Poteg'
ID |
51739 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Poteg
|
Ensembl Gene |
ENSMUSG00000063932 |
Gene Name |
POTE ankyrin domain family, member G |
Synonyms |
4921537P18Rik, 4930456F22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL01086
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
27937698-27985200 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 27963648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081321]
[ENSMUST00000209669]
[ENSMUST00000210427]
|
AlphaFold |
A5H0M4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081321
|
SMART Domains |
Protein: ENSMUSP00000080069 Gene: ENSMUSG00000063932
Domain | Start | End | E-Value | Type |
ANK
|
80 |
109 |
1.46e-2 |
SMART |
ANK
|
113 |
142 |
7.89e1 |
SMART |
ANK
|
146 |
175 |
3.1e-6 |
SMART |
ANK
|
179 |
208 |
2.81e-4 |
SMART |
ANK
|
212 |
241 |
8.62e1 |
SMART |
ANK
|
245 |
273 |
1.23e3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209669
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210427
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
T |
A |
5: 103,796,729 (GRCm39) |
R104S |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Aim2 |
A |
G |
1: 173,282,999 (GRCm39) |
Y27C |
probably damaging |
Het |
Apol7b |
T |
C |
15: 77,308,114 (GRCm39) |
E127G |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,474,066 (GRCm39) |
F1118L |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,347,347 (GRCm39) |
D940G |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Clip4 |
G |
A |
17: 72,131,789 (GRCm39) |
V376I |
probably benign |
Het |
Cmklr2 |
T |
C |
1: 63,222,650 (GRCm39) |
E195G |
probably benign |
Het |
Coro6 |
C |
A |
11: 77,357,374 (GRCm39) |
C194* |
probably null |
Het |
Crebbp |
T |
C |
16: 3,997,416 (GRCm39) |
M223V |
probably benign |
Het |
Dkk4 |
T |
A |
8: 23,116,857 (GRCm39) |
C157S |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,579,611 (GRCm39) |
L3048S |
probably benign |
Het |
Dscaml1 |
T |
C |
9: 45,613,960 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
C |
3: 80,599,688 (GRCm39) |
Y732C |
probably damaging |
Het |
Igkv4-59 |
T |
C |
6: 69,415,707 (GRCm39) |
I7V |
probably benign |
Het |
Lamc3 |
T |
C |
2: 31,788,488 (GRCm39) |
F216S |
probably damaging |
Het |
Lcn6 |
T |
C |
2: 25,570,792 (GRCm39) |
F61L |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,185,871 (GRCm39) |
|
probably benign |
Het |
Or5w18 |
T |
A |
2: 87,633,544 (GRCm39) |
Y266* |
probably null |
Het |
Otof |
C |
T |
5: 30,533,617 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
T |
C |
1: 133,019,356 (GRCm39) |
C1035R |
probably damaging |
Het |
Pla1a |
T |
C |
16: 38,227,984 (GRCm39) |
N298D |
probably benign |
Het |
Pwp1 |
T |
C |
10: 85,715,757 (GRCm39) |
|
probably null |
Het |
Scel |
A |
G |
14: 103,849,827 (GRCm39) |
I631V |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,300,503 (GRCm39) |
M1288L |
probably benign |
Het |
Serpina11 |
T |
A |
12: 103,952,329 (GRCm39) |
D147V |
probably damaging |
Het |
Shroom3 |
T |
A |
5: 93,096,311 (GRCm39) |
C1266S |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,962,962 (GRCm39) |
Y1054C |
probably damaging |
Het |
Srms |
A |
G |
2: 180,854,216 (GRCm39) |
V117A |
probably damaging |
Het |
Tmem161b |
T |
C |
13: 84,370,541 (GRCm39) |
|
probably benign |
Het |
Tmem94 |
A |
T |
11: 115,681,110 (GRCm39) |
T158S |
probably benign |
Het |
Tomm40l |
T |
C |
1: 171,047,878 (GRCm39) |
|
probably null |
Het |
Traf6 |
A |
G |
2: 101,515,128 (GRCm39) |
I95V |
probably benign |
Het |
Ttc13 |
A |
G |
8: 125,402,085 (GRCm39) |
I686T |
probably damaging |
Het |
Zmat2 |
C |
T |
18: 36,929,163 (GRCm39) |
H104Y |
probably damaging |
Het |
|
Other mutations in Poteg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01964:Poteg
|
APN |
8 |
27,938,036 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03017:Poteg
|
APN |
8 |
27,952,069 (GRCm39) |
missense |
probably benign |
0.01 |
deduction
|
UTSW |
8 |
27,948,683 (GRCm39) |
splice site |
probably null |
|
R0034:Poteg
|
UTSW |
8 |
27,952,105 (GRCm39) |
splice site |
probably benign |
|
R0069:Poteg
|
UTSW |
8 |
27,937,849 (GRCm39) |
missense |
probably benign |
0.33 |
R0069:Poteg
|
UTSW |
8 |
27,937,849 (GRCm39) |
missense |
probably benign |
0.33 |
R0522:Poteg
|
UTSW |
8 |
27,939,986 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0634:Poteg
|
UTSW |
8 |
27,963,615 (GRCm39) |
missense |
probably benign |
0.20 |
R0971:Poteg
|
UTSW |
8 |
27,937,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R1019:Poteg
|
UTSW |
8 |
27,937,852 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1450:Poteg
|
UTSW |
8 |
27,937,871 (GRCm39) |
missense |
probably benign |
0.27 |
R1603:Poteg
|
UTSW |
8 |
27,938,033 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
R1650:Poteg
|
UTSW |
8 |
27,953,813 (GRCm39) |
missense |
probably benign |
0.04 |
R1656:Poteg
|
UTSW |
8 |
27,985,060 (GRCm39) |
intron |
probably benign |
|
R1818:Poteg
|
UTSW |
8 |
27,940,195 (GRCm39) |
nonsense |
probably null |
|
R2048:Poteg
|
UTSW |
8 |
27,946,774 (GRCm39) |
missense |
probably benign |
0.39 |
R2847:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
R2848:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
R2849:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
R4493:Poteg
|
UTSW |
8 |
27,970,125 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4967:Poteg
|
UTSW |
8 |
27,985,009 (GRCm39) |
intron |
probably benign |
|
R5051:Poteg
|
UTSW |
8 |
27,943,357 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5149:Poteg
|
UTSW |
8 |
27,971,671 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5579:Poteg
|
UTSW |
8 |
27,938,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R5594:Poteg
|
UTSW |
8 |
27,937,996 (GRCm39) |
missense |
probably benign |
0.28 |
R5723:Poteg
|
UTSW |
8 |
27,940,020 (GRCm39) |
critical splice donor site |
probably null |
|
R5804:Poteg
|
UTSW |
8 |
27,946,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R6685:Poteg
|
UTSW |
8 |
27,937,933 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6911:Poteg
|
UTSW |
8 |
27,940,326 (GRCm39) |
missense |
probably damaging |
0.97 |
R7044:Poteg
|
UTSW |
8 |
27,939,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R7096:Poteg
|
UTSW |
8 |
27,963,595 (GRCm39) |
missense |
probably benign |
0.00 |
R7174:Poteg
|
UTSW |
8 |
27,943,305 (GRCm39) |
missense |
probably benign |
0.36 |
R7287:Poteg
|
UTSW |
8 |
27,943,372 (GRCm39) |
missense |
probably null |
0.44 |
R7560:Poteg
|
UTSW |
8 |
27,984,988 (GRCm39) |
missense |
probably benign |
|
R7604:Poteg
|
UTSW |
8 |
27,948,683 (GRCm39) |
splice site |
probably null |
|
R7740:Poteg
|
UTSW |
8 |
27,952,052 (GRCm39) |
splice site |
probably null |
|
R7875:Poteg
|
UTSW |
8 |
27,939,942 (GRCm39) |
missense |
probably benign |
0.04 |
R7960:Poteg
|
UTSW |
8 |
27,946,888 (GRCm39) |
missense |
probably benign |
0.01 |
R8265:Poteg
|
UTSW |
8 |
27,984,923 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8379:Poteg
|
UTSW |
8 |
27,943,354 (GRCm39) |
missense |
probably benign |
0.03 |
R8414:Poteg
|
UTSW |
8 |
27,938,068 (GRCm39) |
missense |
probably benign |
0.00 |
R8536:Poteg
|
UTSW |
8 |
27,938,048 (GRCm39) |
missense |
probably benign |
0.14 |
R8742:Poteg
|
UTSW |
8 |
27,984,957 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8856:Poteg
|
UTSW |
8 |
27,938,033 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
R9299:Poteg
|
UTSW |
8 |
27,940,287 (GRCm39) |
missense |
probably benign |
0.35 |
X0063:Poteg
|
UTSW |
8 |
27,940,182 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Poteg
|
UTSW |
8 |
27,937,982 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Posted On |
2013-06-21 |