Incidental Mutation 'IGL03156:Potefam1'
ID |
411275 |
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 # |
IGL03156
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111030757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 12
(D12G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
AlphaFold |
Q05AC5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028577
AA Change: D384G
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028577 Gene: ENSMUSG00000027157 AA Change: D384G
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: D12G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117759 Gene: ENSMUSG00000027157 AA Change: D12G
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,023,074 (GRCm39) |
I70T |
possibly damaging |
Het |
Acot11 |
A |
G |
4: 106,611,333 (GRCm39) |
Y365H |
probably damaging |
Het |
Bdp1 |
A |
G |
13: 100,197,544 (GRCm39) |
V947A |
probably benign |
Het |
Ccdc159 |
G |
T |
9: 21,840,771 (GRCm39) |
V113L |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,733,788 (GRCm39) |
D3035G |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,719,672 (GRCm39) |
I433F |
probably damaging |
Het |
Cntn5 |
T |
C |
9: 9,673,882 (GRCm39) |
Y740C |
probably damaging |
Het |
Dennd5a |
C |
A |
7: 109,518,462 (GRCm39) |
|
probably benign |
Het |
Des |
G |
A |
1: 75,339,640 (GRCm39) |
E333K |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,644,983 (GRCm39) |
R1018G |
probably damaging |
Het |
Eif2b2 |
G |
T |
12: 85,266,495 (GRCm39) |
A54S |
probably damaging |
Het |
Gm7276 |
C |
T |
18: 77,273,299 (GRCm39) |
|
probably benign |
Het |
Hsbp1l1 |
A |
G |
18: 80,278,734 (GRCm39) |
|
probably benign |
Het |
Iars1 |
G |
A |
13: 49,856,655 (GRCm39) |
G303S |
possibly damaging |
Het |
Il18r1 |
A |
G |
1: 40,537,528 (GRCm39) |
E431G |
possibly damaging |
Het |
Lrrc14b |
A |
G |
13: 74,512,023 (GRCm39) |
V19A |
probably benign |
Het |
Map1lc3a |
T |
A |
2: 155,118,929 (GRCm39) |
I31N |
probably damaging |
Het |
Ms4a20 |
A |
T |
19: 11,083,114 (GRCm39) |
I102K |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,945,722 (GRCm39) |
Y4163C |
probably damaging |
Het |
Or5p6 |
T |
A |
7: 107,631,558 (GRCm39) |
|
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,070 (GRCm39) |
T632A |
probably benign |
Het |
Ppp1r15a |
A |
G |
7: 45,174,595 (GRCm39) |
L71P |
possibly damaging |
Het |
Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
Rimbp2 |
T |
G |
5: 128,848,821 (GRCm39) |
R908S |
probably damaging |
Het |
Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
Sap30l |
T |
C |
11: 57,696,994 (GRCm39) |
|
probably null |
Het |
Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
Serpina12 |
T |
C |
12: 104,004,158 (GRCm39) |
Y158C |
probably damaging |
Het |
Tmem237 |
A |
T |
1: 59,148,286 (GRCm39) |
D148E |
probably damaging |
Het |
Trmt13 |
T |
C |
3: 116,379,451 (GRCm39) |
D232G |
probably benign |
Het |
Zan |
T |
A |
5: 137,462,201 (GRCm39) |
T993S |
unknown |
Het |
Zfp236 |
G |
A |
18: 82,698,827 (GRCm39) |
L85F |
probably damaging |
Het |
Zfp352 |
G |
A |
4: 90,112,324 (GRCm39) |
D155N |
possibly damaging |
Het |
Zfp867 |
T |
C |
11: 59,355,834 (GRCm39) |
|
probably benign |
Het |
Zmiz2 |
T |
C |
11: 6,349,536 (GRCm39) |
F399L |
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 |
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 |
2016-08-02 |