Incidental Mutation 'IGL00340:Potefam1'
| ID |
7093 |
| 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 # |
IGL00340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 111051107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 230
(L230I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028577
AA Change: L230I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: L230I
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
G |
A |
5: 89,849,525 (GRCm39) |
H632Y |
probably damaging |
Het |
| Adgre5 |
T |
A |
8: 84,455,030 (GRCm39) |
M221L |
probably benign |
Het |
| Apba2 |
A |
T |
7: 64,386,689 (GRCm39) |
I439F |
possibly damaging |
Het |
| Arid1b |
C |
A |
17: 5,371,559 (GRCm39) |
N632K |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,256,417 (GRCm39) |
I60L |
probably damaging |
Het |
| Brd9 |
T |
C |
13: 74,086,666 (GRCm39) |
S56P |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,751,295 (GRCm39) |
D925V |
possibly damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,102,208 (GRCm39) |
T410A |
probably benign |
Het |
| Cimap3 |
A |
G |
3: 105,921,824 (GRCm39) |
V33A |
probably benign |
Het |
| Ddx60 |
G |
T |
8: 62,411,680 (GRCm39) |
D511Y |
probably damaging |
Het |
| Drc7 |
C |
A |
8: 95,782,629 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,118,933 (GRCm39) |
E1290G |
probably benign |
Het |
| Fam168b |
T |
C |
1: 34,875,883 (GRCm39) |
M1V |
probably null |
Het |
| Farsa |
A |
G |
8: 85,590,886 (GRCm39) |
K208R |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,425,368 (GRCm39) |
|
probably benign |
Het |
| Gm17535 |
A |
T |
9: 3,035,111 (GRCm39) |
H170L |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gm5852 |
T |
C |
3: 93,634,501 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb2 |
T |
C |
5: 137,528,968 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,494 (GRCm39) |
N143S |
probably damaging |
Het |
| Hcn1 |
C |
A |
13: 117,739,513 (GRCm39) |
Q92K |
unknown |
Het |
| Helb |
T |
C |
10: 119,934,150 (GRCm39) |
I678V |
possibly damaging |
Het |
| Hnrnpl |
C |
A |
7: 28,512,798 (GRCm39) |
A118D |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,784,921 (GRCm39) |
P169S |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,481,904 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,598,051 (GRCm39) |
E57G |
probably damaging |
Het |
| Lrch4 |
T |
C |
5: 137,636,009 (GRCm39) |
I300T |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,433,053 (GRCm39) |
V1426A |
probably benign |
Het |
| Lrrc39 |
A |
G |
3: 116,364,630 (GRCm39) |
|
probably benign |
Het |
| Mamstr |
G |
A |
7: 45,293,709 (GRCm39) |
V262I |
probably benign |
Het |
| Mob1b |
A |
T |
5: 88,904,014 (GRCm39) |
T217S |
probably benign |
Het |
| Mocs3 |
G |
A |
2: 168,073,411 (GRCm39) |
R286H |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,693,443 (GRCm39) |
Q27L |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,640,981 (GRCm39) |
D506E |
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,984,914 (GRCm39) |
I8T |
probably benign |
Het |
| Oma1 |
G |
T |
4: 103,176,565 (GRCm39) |
A110S |
probably benign |
Het |
| Or10a48 |
C |
T |
7: 108,424,280 (GRCm39) |
V309I |
probably benign |
Het |
| Or13a18 |
T |
A |
7: 140,190,666 (GRCm39) |
S196T |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,346 (GRCm39) |
Y131C |
probably damaging |
Het |
| Pde4a |
A |
C |
9: 21,122,357 (GRCm39) |
K694T |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,299,958 (GRCm39) |
|
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,830,578 (GRCm39) |
V187A |
probably damaging |
Het |
| Pigf |
C |
A |
17: 87,327,876 (GRCm39) |
L130F |
probably null |
Het |
| Pkd1 |
G |
T |
17: 24,799,069 (GRCm39) |
V2763L |
probably damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,561,992 (GRCm39) |
Y76C |
probably damaging |
Het |
| Ppp6r3 |
C |
A |
19: 3,568,324 (GRCm39) |
G158V |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,698,924 (GRCm39) |
I1136V |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,412,790 (GRCm39) |
I1770V |
probably damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,070,185 (GRCm39) |
I148F |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,268,285 (GRCm39) |
Y239H |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,729 (GRCm39) |
Y412C |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,053 (GRCm39) |
I194V |
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,621,185 (GRCm39) |
T335A |
possibly damaging |
Het |
| Tmem126a |
T |
C |
7: 90,101,963 (GRCm39) |
T79A |
probably benign |
Het |
| Trav9-2 |
A |
T |
14: 53,828,840 (GRCm39) |
Y70F |
probably benign |
Het |
| Tspear |
A |
G |
10: 77,709,070 (GRCm39) |
E432G |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,435,580 (GRCm39) |
R403G |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,645,618 (GRCm39) |
S1431R |
possibly damaging |
Het |
| Usp24 |
G |
A |
4: 106,258,336 (GRCm39) |
C1578Y |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,489,652 (GRCm39) |
M473L |
probably benign |
Het |
| Xpot |
T |
A |
10: 121,441,549 (GRCm39) |
M559L |
probably benign |
Het |
|
| Other mutations in Potefam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-04-20 |
Incidental Mutation