Incidental Mutation 'R8742:Poteg'
| ID |
663290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poteg
|
| Ensembl Gene |
ENSMUSG00000063932 |
| Gene Name |
POTE ankyrin domain family, member G |
| Synonyms |
4921537P18Rik, 4930456F22Rik |
| MMRRC Submission |
068587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R8742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27937698-27985200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27984957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 439
(N439Y)
|
| 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: N439Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: N439Y
| 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 damaging
Transcript: ENSMUST00000209669
AA Change: N377Y
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210427
AA Change: N435Y
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,265,835 (GRCm39) |
I893V |
probably benign |
Het |
| Adhfe1 |
A |
G |
1: 9,630,401 (GRCm39) |
I317V |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,171,556 (GRCm39) |
V951A |
probably damaging |
Het |
| Ankrd35 |
T |
A |
3: 96,586,502 (GRCm39) |
H59Q |
probably damaging |
Het |
| Atg16l1 |
C |
T |
1: 87,694,620 (GRCm39) |
T161I |
probably damaging |
Het |
| Axl |
A |
G |
7: 25,463,861 (GRCm39) |
V591A |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,783,741 (GRCm39) |
I45V |
unknown |
Het |
| Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,029,390 (GRCm39) |
F986L |
probably damaging |
Het |
| Cfh |
G |
T |
1: 140,064,469 (GRCm39) |
T393K |
probably damaging |
Het |
| Clic1 |
A |
G |
17: 35,274,356 (GRCm39) |
N179S |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,251,425 (GRCm39) |
D2159E |
probably benign |
Het |
| Epn3 |
T |
G |
11: 94,386,921 (GRCm39) |
T150P |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,724,828 (GRCm39) |
Y310H |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,593 (GRCm39) |
Y727C |
probably damaging |
Het |
| Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gdf10 |
A |
T |
14: 33,654,426 (GRCm39) |
H311L |
probably benign |
Het |
| Gphn |
C |
T |
12: 78,659,766 (GRCm39) |
R423C |
probably damaging |
Het |
| Gpr132 |
T |
C |
12: 112,819,517 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,744,143 (GRCm39) |
T406K |
probably benign |
Het |
| Hpf1 |
T |
C |
8: 61,346,748 (GRCm39) |
V21A |
probably benign |
Het |
| Ifitm6 |
A |
G |
7: 140,596,008 (GRCm39) |
I75T |
probably benign |
Het |
| Itgax |
A |
T |
7: 127,743,795 (GRCm39) |
H852L |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,159,021 (GRCm39) |
Y546C |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,644,571 (GRCm39) |
L578P |
possibly damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,617,217 (GRCm39) |
Y734C |
probably damaging |
Het |
| Mapre2 |
C |
A |
18: 24,016,688 (GRCm39) |
H281N |
probably benign |
Het |
| Mcm4 |
T |
C |
16: 15,443,430 (GRCm39) |
D831G |
possibly damaging |
Het |
| Mlf1 |
G |
A |
3: 67,305,119 (GRCm39) |
A207T |
probably damaging |
Het |
| Mslnl |
A |
T |
17: 25,964,047 (GRCm39) |
I459F |
probably damaging |
Het |
| Mtnr1a |
A |
G |
8: 45,540,720 (GRCm39) |
D227G |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,851,216 (GRCm39) |
L803Q |
probably damaging |
Het |
| Nr3c2 |
T |
G |
8: 77,635,210 (GRCm39) |
S104A |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,610,910 (GRCm39) |
I82V |
probably benign |
Het |
| Pard3 |
C |
T |
8: 128,050,592 (GRCm39) |
A218V |
possibly damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,935 (GRCm39) |
D115V |
probably damaging |
Het |
| Ret |
A |
T |
6: 118,155,484 (GRCm39) |
L404Q |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,272 (GRCm39) |
V157D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGGCGGCGGCGGCGGC |
CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,395,895 (GRCm39) |
N298K |
probably benign |
Het |
| Sh3pxd2a |
G |
A |
19: 47,275,073 (GRCm39) |
S230L |
probably benign |
Het |
| Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
| Skint11 |
T |
C |
4: 114,051,922 (GRCm39) |
I90T |
probably damaging |
Het |
| Slc36a4 |
A |
G |
9: 15,632,039 (GRCm39) |
T72A |
probably damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,865,818 (GRCm39) |
I505K |
probably damaging |
Het |
| Sprr3 |
C |
T |
3: 92,364,307 (GRCm39) |
R179H |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,058,661 (GRCm39) |
I7284N |
probably benign |
Het |
| Timeless |
A |
T |
10: 128,083,107 (GRCm39) |
T648S |
probably benign |
Het |
| Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,667,469 (GRCm39) |
F815L |
probably damaging |
Het |
| Uimc1 |
A |
G |
13: 55,240,971 (GRCm39) |
L39S |
possibly damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,263 (GRCm39) |
T723A |
probably benign |
Het |
| Vps11 |
A |
G |
9: 44,267,070 (GRCm39) |
|
probably benign |
Het |
| Zp3r |
A |
T |
1: 130,511,230 (GRCm39) |
C383S |
probably damaging |
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 |
|
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 |
|
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'- TAGTCAGCAGCCAGATGATG -3'
(R):5'- TGACAGTATCAGTTTAGCATGTTGC -3'
Sequencing Primer
(F):5'- TGTTTTAGTGTCTGTACAACTTACTG -3'
(R):5'- GCATGTTGCTAAAATTTGAAATTGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation