Incidental Mutation 'IGL01431:Potefam1'
ID |
84134 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Potefam1
|
Ensembl Gene |
ENSMUSG00000027157 |
Gene Name |
POTE ankyrin domain family member 1 |
Synonyms |
Potea, Pote1, 4930430A15Rik, A26c3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL01431
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 111055740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000216421]
[ENSMUST00000217539]
|
AlphaFold |
Q05AC5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028577
|
SMART Domains |
Protein: ENSMUSP00000028577 Gene: ENSMUSG00000027157
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 |
probably benign
Transcript: ENSMUST00000216421
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217539
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
G |
9: 90,089,838 (GRCm39) |
I897T |
possibly damaging |
Het |
Aqp2 |
G |
A |
15: 99,477,301 (GRCm39) |
V90M |
possibly damaging |
Het |
Atf6 |
T |
C |
1: 170,680,571 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
T |
C |
8: 107,274,301 (GRCm39) |
Y607H |
probably damaging |
Het |
Cer1 |
T |
A |
4: 82,801,068 (GRCm39) |
E198D |
probably benign |
Het |
Dscam |
A |
G |
16: 96,453,278 (GRCm39) |
|
probably null |
Het |
Ecel1 |
C |
T |
1: 87,079,226 (GRCm39) |
R484H |
probably damaging |
Het |
Entpd7 |
C |
A |
19: 43,718,278 (GRCm39) |
H575Q |
probably benign |
Het |
F11r |
T |
C |
1: 171,290,477 (GRCm39) |
V279A |
probably damaging |
Het |
Gm17093 |
T |
A |
14: 44,759,122 (GRCm39) |
|
probably benign |
Het |
Got1 |
T |
A |
19: 43,491,488 (GRCm39) |
K321* |
probably null |
Het |
Gpn1 |
T |
C |
5: 31,664,882 (GRCm39) |
V302A |
probably benign |
Het |
Hivep1 |
G |
T |
13: 42,311,493 (GRCm39) |
K1244N |
probably damaging |
Het |
Idh3b |
T |
C |
2: 130,123,817 (GRCm39) |
T116A |
possibly damaging |
Het |
Itgb4 |
C |
A |
11: 115,897,283 (GRCm39) |
|
probably benign |
Het |
Mybl1 |
G |
T |
1: 9,742,872 (GRCm39) |
L579I |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,263,782 (GRCm39) |
T1694S |
probably null |
Het |
Mylk3 |
T |
C |
8: 86,063,030 (GRCm39) |
D537G |
probably damaging |
Het |
Myo1d |
A |
C |
11: 80,565,665 (GRCm39) |
F387V |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,361,361 (GRCm39) |
Y448C |
probably benign |
Het |
Or8k40 |
A |
T |
2: 86,584,508 (GRCm39) |
H191Q |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,832,804 (GRCm39) |
|
probably benign |
Het |
Retreg2 |
T |
A |
1: 75,121,749 (GRCm39) |
|
probably null |
Het |
Ripply3 |
G |
A |
16: 94,129,402 (GRCm39) |
C16Y |
possibly damaging |
Het |
Robo3 |
G |
A |
9: 37,330,407 (GRCm39) |
|
probably benign |
Het |
Rrm1 |
C |
A |
7: 102,106,759 (GRCm39) |
|
probably benign |
Het |
Rsad2 |
T |
A |
12: 26,498,666 (GRCm39) |
R269S |
probably benign |
Het |
Sbp |
A |
T |
17: 24,164,322 (GRCm39) |
|
probably benign |
Het |
Schip1 |
A |
T |
3: 68,525,110 (GRCm39) |
Q162L |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,980,144 (GRCm39) |
Y67C |
probably damaging |
Het |
Slc25a25 |
C |
T |
2: 32,309,103 (GRCm39) |
R233K |
probably damaging |
Het |
Smoc1 |
C |
A |
12: 81,199,525 (GRCm39) |
S220* |
probably null |
Het |
Stab1 |
C |
A |
14: 30,870,952 (GRCm39) |
R1299I |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,805,074 (GRCm39) |
|
probably benign |
Het |
Tmc7 |
T |
G |
7: 118,151,985 (GRCm39) |
D312A |
probably damaging |
Het |
Vmn1r79 |
T |
C |
7: 11,910,327 (GRCm39) |
S70P |
possibly damaging |
Het |
Zfc3h1 |
C |
A |
10: 115,259,128 (GRCm39) |
T1591K |
possibly 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 |
|
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 |
R5045:Potefam1
|
UTSW |
2 |
111,023,804 (GRCm39) |
missense |
unknown |
|
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 |
|
|
Posted On |
2013-11-11 |