Incidental Mutation 'R5045:Potefam1'
ID |
394299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Potefam1
|
Ensembl Gene |
ENSMUSG00000027157 |
Gene Name |
POTE ankyrin domain family member 1 |
Synonyms |
Potea, Pote1, 4930430A15Rik, A26c3 |
MMRRC Submission |
042635-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5045 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111023804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 110
(Q110L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
AlphaFold |
Q05AC5 |
Predicted Effect |
unknown
Transcript: ENSMUST00000028577
AA Change: Q482L
|
SMART Domains |
Protein: ENSMUSP00000028577 Gene: ENSMUSG00000027157 AA Change: Q482L
Domain | Start | End | E-Value | Type |
ANK
|
78 |
107 |
1.61e-4 |
SMART |
ANK
|
111 |
140 |
3.6e-2 |
SMART |
ANK
|
144 |
173 |
4.89e-4 |
SMART |
ANK
|
177 |
206 |
4.03e-5 |
SMART |
ANK
|
210 |
239 |
8.72e-1 |
SMART |
Blast:ANK
|
243 |
272 |
4e-12 |
BLAST |
low complexity region
|
460 |
472 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000142636
AA Change: Q110L
|
SMART Domains |
Protein: ENSMUSP00000117759 Gene: ENSMUSG00000027157 AA Change: Q110L
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
69 |
7.48e-6 |
PROSPERO |
internal_repeat_1
|
81 |
153 |
7.48e-6 |
PROSPERO |
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
T |
C |
3: 36,530,327 (GRCm39) |
|
probably benign |
Het |
2210408I21Rik |
A |
G |
13: 77,415,927 (GRCm39) |
|
probably null |
Het |
4930519P11Rik |
A |
T |
2: 154,454,950 (GRCm39) |
C136* |
probably null |
Het |
4930519P11Rik |
G |
T |
2: 154,454,982 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,113,860 (GRCm39) |
H1189L |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 103,039,743 (GRCm39) |
I227V |
possibly damaging |
Het |
Arhgap29 |
C |
A |
3: 121,796,244 (GRCm39) |
N445K |
probably benign |
Het |
Atp13a3 |
T |
C |
16: 30,158,694 (GRCm39) |
H811R |
probably benign |
Het |
Cd2ap |
T |
C |
17: 43,118,851 (GRCm39) |
N529S |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,026,080 (GRCm39) |
S439T |
probably benign |
Het |
Ces3a |
G |
T |
8: 105,777,248 (GRCm39) |
|
probably null |
Het |
Cftr |
T |
A |
6: 18,230,080 (GRCm39) |
N408K |
probably benign |
Het |
Chil5 |
T |
C |
3: 105,931,456 (GRCm39) |
N136S |
possibly damaging |
Het |
Col20a1 |
A |
G |
2: 180,648,638 (GRCm39) |
D933G |
probably damaging |
Het |
Crh |
A |
T |
3: 19,748,153 (GRCm39) |
L163* |
probably null |
Het |
Ctps1 |
A |
C |
4: 120,410,075 (GRCm39) |
|
probably null |
Het |
Cyb5d2 |
A |
G |
11: 72,686,401 (GRCm39) |
V63A |
probably damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,275,272 (GRCm39) |
|
probably null |
Het |
Dclk3 |
A |
T |
9: 111,296,856 (GRCm39) |
E133D |
probably damaging |
Het |
Dhrs9 |
A |
G |
2: 69,223,339 (GRCm39) |
D29G |
probably benign |
Het |
Disp2 |
G |
A |
2: 118,622,543 (GRCm39) |
E1092K |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,652,665 (GRCm39) |
I764T |
probably damaging |
Het |
Epm2aip1 |
C |
A |
9: 111,102,427 (GRCm39) |
R467S |
possibly damaging |
Het |
Fam20a |
T |
C |
11: 109,568,711 (GRCm39) |
I272V |
probably benign |
Het |
Fgb |
T |
C |
3: 82,950,680 (GRCm39) |
Y358C |
probably damaging |
Het |
Gm11596 |
A |
T |
11: 99,683,695 (GRCm39) |
S142T |
unknown |
Het |
Golga4 |
A |
G |
9: 118,394,724 (GRCm39) |
T9A |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,299,093 (GRCm39) |
P2813L |
probably damaging |
Het |
Ighv1-9 |
C |
T |
12: 114,547,440 (GRCm39) |
G34R |
probably damaging |
Het |
Kalrn |
A |
C |
16: 34,134,722 (GRCm39) |
Y353* |
probably null |
Het |
Klrk1 |
T |
C |
6: 129,594,466 (GRCm39) |
Y42C |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mbtd1 |
T |
C |
11: 93,822,641 (GRCm39) |
Y484H |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,309,633 (GRCm39) |
R273G |
possibly damaging |
Het |
Myh11 |
A |
T |
16: 14,057,391 (GRCm39) |
L308* |
probably null |
Het |
Nacc2 |
G |
A |
2: 25,980,150 (GRCm39) |
|
probably null |
Het |
Nadsyn1 |
A |
G |
7: 143,360,706 (GRCm39) |
L354P |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,110,172 (GRCm39) |
Q354L |
probably benign |
Het |
Or10ag58 |
A |
T |
2: 87,265,490 (GRCm39) |
I220L |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,664 (GRCm39) |
G308E |
probably benign |
Het |
Phactr3 |
T |
C |
2: 177,973,412 (GRCm39) |
I470T |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,349,787 (GRCm39) |
P211S |
unknown |
Het |
Prickle2 |
T |
C |
6: 92,353,375 (GRCm39) |
D753G |
probably damaging |
Het |
Prr12 |
A |
G |
7: 44,699,318 (GRCm39) |
|
probably benign |
Het |
Psd3 |
T |
C |
8: 68,166,477 (GRCm39) |
E917G |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,697,268 (GRCm39) |
K551* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,302,740 (GRCm39) |
L1033P |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,570,618 (GRCm39) |
Q378L |
possibly damaging |
Het |
Tdpoz8 |
G |
T |
3: 92,981,524 (GRCm39) |
D181Y |
probably damaging |
Het |
Tespa1 |
A |
T |
10: 130,197,904 (GRCm39) |
K309* |
probably null |
Het |
Trim69 |
A |
G |
2: 122,004,727 (GRCm39) |
T275A |
probably benign |
Het |
Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
Ugt2a2 |
A |
T |
5: 87,622,751 (GRCm39) |
F72L |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,695,496 (GRCm39) |
D305E |
possibly damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,273,597 (GRCm39) |
I804V |
probably benign |
Het |
Zfy2 |
T |
C |
Y: 2,107,159 (GRCm39) |
K492E |
possibly damaging |
Het |
Zkscan1 |
A |
G |
5: 138,099,182 (GRCm39) |
H375R |
probably damaging |
Het |
|
Other mutations in Potefam1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Potefam1
|
APN |
2 |
111,051,107 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01403:Potefam1
|
APN |
2 |
111,059,515 (GRCm39) |
unclassified |
probably benign |
|
IGL01431:Potefam1
|
APN |
2 |
111,055,740 (GRCm39) |
unclassified |
probably benign |
|
IGL01601:Potefam1
|
APN |
2 |
111,023,823 (GRCm39) |
missense |
unknown |
|
IGL01649:Potefam1
|
APN |
2 |
111,044,921 (GRCm39) |
splice site |
probably benign |
|
IGL02355:Potefam1
|
APN |
2 |
111,041,996 (GRCm39) |
splice site |
probably benign |
|
IGL02362:Potefam1
|
APN |
2 |
111,041,996 (GRCm39) |
splice site |
probably benign |
|
IGL02485:Potefam1
|
APN |
2 |
111,058,670 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02620:Potefam1
|
APN |
2 |
111,041,970 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03156:Potefam1
|
APN |
2 |
111,030,757 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02980:Potefam1
|
UTSW |
2 |
110,994,818 (GRCm39) |
missense |
unknown |
|
R0577:Potefam1
|
UTSW |
2 |
111,024,694 (GRCm39) |
missense |
probably benign |
0.27 |
R0638:Potefam1
|
UTSW |
2 |
111,030,763 (GRCm39) |
missense |
probably damaging |
0.96 |
R0645:Potefam1
|
UTSW |
2 |
111,044,928 (GRCm39) |
critical splice donor site |
probably null |
|
R0671:Potefam1
|
UTSW |
2 |
111,034,482 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0829:Potefam1
|
UTSW |
2 |
111,028,450 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1464:Potefam1
|
UTSW |
2 |
111,055,748 (GRCm39) |
critical splice donor site |
probably null |
|
R1464:Potefam1
|
UTSW |
2 |
111,055,748 (GRCm39) |
critical splice donor site |
probably null |
|
R1486:Potefam1
|
UTSW |
2 |
111,030,703 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1509:Potefam1
|
UTSW |
2 |
111,048,972 (GRCm39) |
missense |
probably benign |
|
R1672:Potefam1
|
UTSW |
2 |
111,051,119 (GRCm39) |
missense |
probably benign |
0.00 |
R2073:Potefam1
|
UTSW |
2 |
111,030,763 (GRCm39) |
missense |
probably damaging |
0.96 |
R2074:Potefam1
|
UTSW |
2 |
111,030,763 (GRCm39) |
missense |
probably damaging |
0.96 |
R2075:Potefam1
|
UTSW |
2 |
111,030,763 (GRCm39) |
missense |
probably damaging |
0.96 |
R2899:Potefam1
|
UTSW |
2 |
111,051,015 (GRCm39) |
splice site |
probably benign |
|
R2965:Potefam1
|
UTSW |
2 |
111,034,364 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3110:Potefam1
|
UTSW |
2 |
111,058,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R3112:Potefam1
|
UTSW |
2 |
111,058,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R4489:Potefam1
|
UTSW |
2 |
111,051,047 (GRCm39) |
missense |
probably benign |
0.31 |
R4821:Potefam1
|
UTSW |
2 |
111,034,490 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4925:Potefam1
|
UTSW |
2 |
111,048,961 (GRCm39) |
missense |
probably benign |
0.41 |
R5057:Potefam1
|
UTSW |
2 |
111,055,766 (GRCm39) |
missense |
probably benign |
0.12 |
R5128:Potefam1
|
UTSW |
2 |
110,994,674 (GRCm39) |
nonsense |
probably null |
|
R5250:Potefam1
|
UTSW |
2 |
111,058,422 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5333:Potefam1
|
UTSW |
2 |
111,024,682 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5376:Potefam1
|
UTSW |
2 |
111,045,944 (GRCm39) |
missense |
probably benign |
0.44 |
R5677:Potefam1
|
UTSW |
2 |
111,041,910 (GRCm39) |
missense |
probably benign |
|
R5722:Potefam1
|
UTSW |
2 |
111,034,468 (GRCm39) |
missense |
probably benign |
|
R5735:Potefam1
|
UTSW |
2 |
111,055,837 (GRCm39) |
nonsense |
probably null |
|
R6170:Potefam1
|
UTSW |
2 |
111,058,293 (GRCm39) |
missense |
probably benign |
0.03 |
R6366:Potefam1
|
UTSW |
2 |
110,999,937 (GRCm39) |
critical splice donor site |
probably null |
|
R6496:Potefam1
|
UTSW |
2 |
110,994,817 (GRCm39) |
missense |
unknown |
|
R6654:Potefam1
|
UTSW |
2 |
111,002,229 (GRCm39) |
missense |
unknown |
|
R6983:Potefam1
|
UTSW |
2 |
111,058,595 (GRCm39) |
critical splice donor site |
probably null |
|
R7371:Potefam1
|
UTSW |
2 |
111,023,826 (GRCm39) |
missense |
unknown |
|
R7958:Potefam1
|
UTSW |
2 |
111,000,670 (GRCm39) |
missense |
unknown |
|
R8421:Potefam1
|
UTSW |
2 |
111,048,955 (GRCm39) |
nonsense |
probably null |
|
R8495:Potefam1
|
UTSW |
2 |
111,059,755 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
R8534:Potefam1
|
UTSW |
2 |
111,058,380 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8671:Potefam1
|
UTSW |
2 |
111,059,877 (GRCm39) |
unclassified |
probably benign |
|
R8679:Potefam1
|
UTSW |
2 |
111,059,567 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8743:Potefam1
|
UTSW |
2 |
111,000,017 (GRCm39) |
missense |
unknown |
|
R8983:Potefam1
|
UTSW |
2 |
111,030,701 (GRCm39) |
missense |
probably benign |
0.00 |
R9213:Potefam1
|
UTSW |
2 |
111,020,699 (GRCm39) |
missense |
unknown |
|
R9457:Potefam1
|
UTSW |
2 |
111,000,631 (GRCm39) |
missense |
unknown |
|
R9723:Potefam1
|
UTSW |
2 |
111,058,700 (GRCm39) |
missense |
probably damaging |
0.97 |
R9745:Potefam1
|
UTSW |
2 |
111,000,008 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTGCTCTAGGATGAATTAGAAAAGAA -3'
(R):5'- AGGTGGAGTTTAGATTTTCTCAAGA -3'
Sequencing Primer
(F):5'- AAGTGCTAAATGCTGTGCCC -3'
(R):5'- AAGCAAGATTCTTTCCCTAA -3'
|
Posted On |
2016-06-15 |