Incidental Mutation 'R5250:Potefam1'
ID |
398912 |
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 |
042821-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5250 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 111058422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 124
(T124P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000099620]
[ENSMUST00000216421]
[ENSMUST00000217539]
|
AlphaFold |
Q05AC5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028577
AA Change: T124P
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028577 Gene: ENSMUSG00000027157 AA Change: T124P
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: ENSMUST00000099620
|
SMART Domains |
Protein: ENSMUSP00000097215 Gene: ENSMUSG00000074966
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
30 |
305 |
9.8e-37 |
PFAM |
Pfam:7tm_1
|
41 |
287 |
5.6e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216421
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217539
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atg2b |
G |
A |
12: 105,602,024 (GRCm39) |
R1651W |
probably damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
Bpifb5 |
A |
T |
2: 154,066,881 (GRCm39) |
N45Y |
probably benign |
Het |
Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,283,152 (GRCm39) |
V555D |
probably damaging |
Het |
Dixdc1 |
T |
G |
9: 50,595,035 (GRCm39) |
E230A |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
Nae1 |
A |
G |
8: 105,257,023 (GRCm39) |
|
probably null |
Het |
Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
Zfp568 |
T |
C |
7: 29,716,655 (GRCm39) |
V185A |
probably benign |
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 |
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 |
|
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'- GCAACTATAGTGGGGTGAACATTACC -3'
(R):5'- ATTGACGCTGCTGACATGAAC -3'
Sequencing Primer
(F):5'- ACATTACCTTGTTCTTTTGTTCCATG -3'
(R):5'- TCATCACGCCTCTGATGAAGG -3'
|
Posted On |
2016-07-06 |