Incidental Mutation 'R1019:Poteg'
| ID |
96756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poteg
|
| Ensembl Gene |
ENSMUSG00000063932 |
| Gene Name |
POTE ankyrin domain family, member G |
| Synonyms |
4921537P18Rik, 4930456F22Rik |
| MMRRC Submission |
039123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
27937698-27985200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27937852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 3
(F3I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081321]
[ENSMUST00000209669]
[ENSMUST00000210427]
|
| AlphaFold |
A5H0M4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081321
AA Change: F3I
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: F3I
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
C |
8: 120,872,209 (GRCm39) |
E46Q |
probably damaging |
Het |
| 9130401M01Rik |
A |
G |
15: 57,885,823 (GRCm39) |
I353T |
possibly damaging |
Het |
| A830031A19Rik |
G |
A |
11: 23,999,438 (GRCm39) |
R53C |
unknown |
Het |
| Abcc6 |
T |
C |
7: 45,663,531 (GRCm39) |
R378G |
possibly damaging |
Het |
| Adam10 |
A |
G |
9: 70,668,922 (GRCm39) |
N413D |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,415,807 (GRCm39) |
V2712A |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,358,378 (GRCm39) |
F3289S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,440 (GRCm39) |
S2330P |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,524,072 (GRCm39) |
A196V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,708,257 (GRCm39) |
C252* |
probably null |
Het |
| Mrgpra1 |
C |
G |
7: 46,984,833 (GRCm39) |
C282S |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,346,799 (GRCm39) |
L765Q |
probably damaging |
Het |
| Or13a26 |
C |
T |
7: 140,284,407 (GRCm39) |
P81L |
probably damaging |
Het |
| Or1l8 |
A |
G |
2: 36,817,764 (GRCm39) |
F121L |
probably benign |
Het |
| Otof |
C |
A |
5: 30,528,087 (GRCm39) |
V1924L |
probably damaging |
Het |
| Pdhb |
T |
C |
14: 8,171,442 (GRCm38) |
Q62R |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,628,903 (GRCm39) |
V55A |
probably benign |
Het |
| Rptor |
A |
G |
11: 119,734,569 (GRCm39) |
D46G |
probably damaging |
Het |
| Slc18a1 |
C |
T |
8: 69,527,685 (GRCm39) |
|
probably null |
Het |
| Slc37a1 |
A |
G |
17: 31,534,568 (GRCm39) |
N80S |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,825,998 (GRCm39) |
R17S |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,182 (GRCm39) |
S649P |
probably benign |
Het |
| Syngr3 |
G |
T |
17: 24,906,534 (GRCm39) |
Q94K |
possibly damaging |
Het |
| Tgm2 |
C |
A |
2: 157,966,074 (GRCm39) |
E527* |
probably null |
Het |
| Tnc |
T |
A |
4: 63,880,319 (GRCm39) |
T1952S |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,593 (GRCm39) |
R499Q |
probably benign |
Het |
| Uck1 |
A |
G |
2: 32,146,205 (GRCm39) |
V230A |
possibly damaging |
Het |
| Unc13d |
G |
A |
11: 115,958,900 (GRCm39) |
R754C |
probably benign |
Het |
| Zfp708 |
C |
T |
13: 67,222,162 (GRCm39) |
A73T |
probably benign |
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 |
|
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 |
|
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 |
2014-01-05 |
Incidental Mutation