Incidental Mutation 'R0069:Poteg'
ID |
33104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Poteg
|
Ensembl Gene |
ENSMUSG00000063932 |
Gene Name |
POTE ankyrin domain family, member G |
Synonyms |
4921537P18Rik, 4930456F22Rik |
MMRRC Submission |
038360-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R0069 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
8 |
Chromosomal Location |
27937698-27985200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27937849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081321]
[ENSMUST00000209669]
[ENSMUST00000210427]
|
AlphaFold |
A5H0M4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081321
AA Change: S2P
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000080069 Gene: ENSMUSG00000063932 AA Change: S2P
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211657
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.4%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
Antxr2 |
T |
A |
5: 98,096,109 (GRCm39) |
M392L |
possibly damaging |
Het |
Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
Clec2g |
T |
C |
6: 128,957,274 (GRCm39) |
|
probably null |
Het |
Clec2g |
T |
A |
6: 128,925,716 (GRCm39) |
S42T |
probably benign |
Het |
Creb1 |
A |
G |
1: 64,615,367 (GRCm39) |
I240V |
possibly damaging |
Het |
D2hgdh |
G |
T |
1: 93,763,009 (GRCm39) |
V265L |
possibly damaging |
Het |
Dctn2 |
A |
T |
10: 127,113,354 (GRCm39) |
|
probably null |
Het |
Diablo |
A |
T |
5: 123,656,087 (GRCm39) |
S117R |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,647,499 (GRCm39) |
R349S |
probably damaging |
Het |
Fam168a |
C |
T |
7: 100,484,618 (GRCm39) |
A252V |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,202,256 (GRCm39) |
Y1299C |
probably damaging |
Het |
Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,713,509 (GRCm39) |
|
probably null |
Het |
Ifi206 |
A |
T |
1: 173,314,413 (GRCm39) |
V9D |
probably damaging |
Het |
Ints3 |
A |
G |
3: 90,307,954 (GRCm39) |
|
probably benign |
Het |
Itgal |
A |
G |
7: 126,909,503 (GRCm39) |
T56A |
probably benign |
Het |
Lzts3 |
T |
A |
2: 130,478,460 (GRCm39) |
T213S |
probably benign |
Het |
Map1b |
A |
G |
13: 99,566,356 (GRCm39) |
S2122P |
unknown |
Het |
Mei4 |
C |
T |
9: 81,907,635 (GRCm39) |
Q223* |
probably null |
Het |
Mpzl3 |
T |
C |
9: 44,979,550 (GRCm39) |
V167A |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,167,624 (GRCm39) |
T1070A |
probably benign |
Het |
Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
Nfx1 |
T |
C |
4: 40,986,688 (GRCm39) |
|
probably benign |
Het |
Or10ak12 |
A |
T |
4: 118,666,887 (GRCm39) |
V58D |
probably damaging |
Het |
Or8g33 |
A |
G |
9: 39,338,188 (GRCm39) |
Y60H |
probably damaging |
Het |
Ostm1 |
A |
C |
10: 42,568,952 (GRCm39) |
D37A |
probably benign |
Het |
Pde8a |
T |
C |
7: 80,968,871 (GRCm39) |
|
probably benign |
Het |
Pole2 |
A |
T |
12: 69,256,661 (GRCm39) |
V288E |
probably damaging |
Het |
Ppp2r5c |
A |
T |
12: 110,534,204 (GRCm39) |
M356L |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,544,368 (GRCm39) |
S1786N |
probably benign |
Het |
Prox1 |
A |
G |
1: 189,893,116 (GRCm39) |
V443A |
possibly damaging |
Het |
Prpf6 |
T |
A |
2: 181,257,756 (GRCm39) |
|
probably null |
Het |
Ptger1 |
A |
T |
8: 84,394,948 (GRCm39) |
T142S |
possibly damaging |
Het |
Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
Rnpepl1 |
T |
A |
1: 92,846,620 (GRCm39) |
N507K |
possibly damaging |
Het |
Slc38a10 |
A |
T |
11: 119,997,328 (GRCm39) |
V722E |
probably damaging |
Het |
Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,727,756 (GRCm39) |
H175Q |
probably damaging |
Het |
Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
Vmn1r208 |
A |
T |
13: 22,956,595 (GRCm39) |
W301R |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,789,133 (GRCm39) |
I746T |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,314,999 (GRCm39) |
V233A |
probably benign |
Het |
Zfp329 |
A |
T |
7: 12,544,859 (GRCm39) |
S222T |
probably damaging |
Het |
Zswim6 |
T |
C |
13: 107,875,098 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Poteg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01086:Poteg
|
APN |
8 |
27,963,648 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCACCTTTACCCATAGCCTCAG -3'
(R):5'- AGCAGCAACCCTGTGAATATGCCC -3'
Sequencing Primer
(F):5'- TTTACCCATAGCCTCAGAGATG -3'
(R):5'- TGAATATGCCCCAACGGTCTG -3'
|
Posted On |
2013-05-09 |