Incidental Mutation 'R1486:Potefam1'
ID |
163446 |
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 |
039539-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R1486 (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 G
at 111030703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 402
(Q402P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
AlphaFold |
Q05AC5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028577
AA Change: Q402P
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028577 Gene: ENSMUSG00000027157 AA Change: Q402P
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 |
possibly damaging
Transcript: ENSMUST00000142636
AA Change: Q30P
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117759 Gene: ENSMUSG00000027157 AA Change: Q30P
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: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730015C16Rik |
A |
G |
4: 108,705,143 (GRCm39) |
E19G |
probably benign |
Het |
A730018C14Rik |
T |
C |
12: 112,382,129 (GRCm39) |
|
noncoding transcript |
Het |
Acrbp |
T |
A |
6: 125,027,585 (GRCm39) |
Y78N |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,589,166 (GRCm39) |
S422G |
probably benign |
Het |
Apba2 |
T |
C |
7: 64,386,696 (GRCm39) |
V429A |
probably damaging |
Het |
Atf6 |
A |
G |
1: 170,622,260 (GRCm39) |
C454R |
probably damaging |
Het |
Bhlhe40 |
T |
C |
6: 108,641,890 (GRCm39) |
I278T |
probably damaging |
Het |
Birc6 |
G |
T |
17: 74,946,815 (GRCm39) |
V2845L |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,862,274 (GRCm39) |
I1008V |
probably benign |
Het |
Catsperg1 |
C |
A |
7: 28,884,920 (GRCm39) |
K900N |
probably damaging |
Het |
Cep20 |
A |
G |
16: 14,118,004 (GRCm39) |
V172A |
probably benign |
Het |
Chek2 |
T |
G |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,579,338 (GRCm39) |
L633P |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,725,098 (GRCm39) |
S4352T |
probably damaging |
Het |
Eif3c |
C |
T |
7: 126,163,893 (GRCm39) |
R50Q |
probably damaging |
Het |
Eml6 |
A |
C |
11: 29,755,114 (GRCm39) |
I887S |
possibly damaging |
Het |
Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
Grm4 |
A |
G |
17: 27,653,691 (GRCm39) |
L706P |
probably damaging |
Het |
Irak3 |
T |
C |
10: 119,978,966 (GRCm39) |
D495G |
probably damaging |
Het |
Itga9 |
T |
G |
9: 118,455,518 (GRCm39) |
V64G |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,230,309 (GRCm39) |
I759T |
probably damaging |
Het |
Kdm3b |
T |
A |
18: 34,967,357 (GRCm39) |
F1721I |
probably damaging |
Het |
Lrrc8c |
T |
A |
5: 105,755,395 (GRCm39) |
V390E |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,301,449 (GRCm39) |
T1195I |
probably benign |
Het |
Mphosph8 |
C |
T |
14: 56,926,496 (GRCm39) |
T646I |
probably damaging |
Het |
Ncdn |
A |
T |
4: 126,642,391 (GRCm39) |
V422D |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,308,372 (GRCm39) |
E548G |
probably damaging |
Het |
Nt5el |
T |
C |
13: 105,246,291 (GRCm39) |
V284A |
probably benign |
Het |
Nup37 |
T |
C |
10: 87,984,116 (GRCm39) |
Y11H |
probably damaging |
Het |
Or1ad1 |
G |
A |
11: 50,875,608 (GRCm39) |
V27I |
probably benign |
Het |
Or51f1e |
A |
T |
7: 102,747,637 (GRCm39) |
I230F |
probably damaging |
Het |
Or52s19 |
T |
A |
7: 103,008,201 (GRCm39) |
M67L |
possibly damaging |
Het |
Or8j3c |
T |
A |
2: 86,253,825 (GRCm39) |
H65L |
probably damaging |
Het |
Pcgf1 |
T |
G |
6: 83,056,107 (GRCm39) |
S70R |
probably damaging |
Het |
Prps1l3 |
C |
T |
12: 57,285,573 (GRCm39) |
A121V |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,792,917 (GRCm39) |
Y57H |
probably damaging |
Het |
Rbm12b2 |
A |
G |
4: 12,094,841 (GRCm39) |
R567G |
probably benign |
Het |
Rep15 |
T |
A |
6: 146,934,577 (GRCm39) |
F139I |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,048,954 (GRCm39) |
Y92C |
probably damaging |
Het |
Sin3b |
A |
G |
8: 73,477,141 (GRCm39) |
T803A |
probably benign |
Het |
Skint11 |
G |
A |
4: 114,052,015 (GRCm39) |
|
probably null |
Het |
Sobp |
T |
G |
10: 42,898,518 (GRCm39) |
S356R |
probably benign |
Het |
Spats2l |
T |
C |
1: 57,939,970 (GRCm39) |
I228T |
probably damaging |
Het |
Sqor |
G |
A |
2: 122,649,565 (GRCm39) |
|
probably null |
Het |
Stox1 |
T |
C |
10: 62,500,415 (GRCm39) |
D715G |
probably benign |
Het |
Tln2 |
C |
A |
9: 67,219,121 (GRCm39) |
G275W |
probably damaging |
Het |
Tmc5 |
C |
T |
7: 118,272,655 (GRCm39) |
P942S |
probably benign |
Het |
Tor4a |
A |
T |
2: 25,084,691 (GRCm39) |
I404N |
possibly damaging |
Het |
Ttc3 |
G |
A |
16: 94,248,988 (GRCm39) |
R1162Q |
probably damaging |
Het |
Zfp451 |
T |
C |
1: 33,816,808 (GRCm39) |
K164E |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGGCATCTAACATGAGCCAAATAAA -3'
(R):5'- GCCGATTACCCCAAAACCGATTAAGT -3'
Sequencing Primer
(F):5'- CATGAGCCAAATAAAGTTCCCTTG -3'
(R):5'- TCAATGCTTGTGTACCTTGAAC -3'
|
Posted On |
2014-03-28 |