Incidental Mutation 'R0638:Potefam1'
ID |
56793 |
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 |
038827-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R0638 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111030763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 382
(E382G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
AlphaFold |
Q05AC5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028577
AA Change: E382G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028577 Gene: ENSMUSG00000027157 AA Change: E382G
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: E10G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000117759 Gene: ENSMUSG00000027157 AA Change: E10G
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.5%
|
Validation Efficiency |
99% (76/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
A |
2: 68,547,572 (GRCm39) |
Q161K |
probably benign |
Het |
Aatk |
A |
T |
11: 119,900,748 (GRCm39) |
L1216Q |
probably damaging |
Het |
Aifm3 |
T |
C |
16: 17,321,535 (GRCm39) |
F463L |
possibly damaging |
Het |
Antxr2 |
C |
T |
5: 98,108,496 (GRCm39) |
W338* |
probably null |
Het |
Apc2 |
T |
C |
10: 80,140,801 (GRCm39) |
S219P |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,192,389 (GRCm39) |
|
probably null |
Het |
Arrdc5 |
A |
G |
17: 56,607,020 (GRCm39) |
V75A |
possibly damaging |
Het |
Atg16l2 |
A |
T |
7: 100,949,317 (GRCm39) |
|
probably null |
Het |
Cacna1i |
A |
G |
15: 80,265,281 (GRCm39) |
N1511S |
possibly damaging |
Het |
Cad |
T |
C |
5: 31,235,032 (GRCm39) |
Y2095H |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,035,753 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,801,765 (GRCm39) |
D975G |
probably damaging |
Het |
Dagla |
T |
C |
19: 10,232,247 (GRCm39) |
I480V |
probably damaging |
Het |
Efl1 |
C |
T |
7: 82,301,095 (GRCm39) |
T33I |
probably damaging |
Het |
Esp36 |
A |
G |
17: 38,728,060 (GRCm39) |
F74L |
probably benign |
Het |
Faim |
T |
C |
9: 98,874,149 (GRCm39) |
|
probably benign |
Het |
Fam83h |
G |
T |
15: 75,875,776 (GRCm39) |
H520Q |
probably benign |
Het |
Fbn2 |
A |
T |
18: 58,178,446 (GRCm39) |
C1931S |
probably damaging |
Het |
Frs3 |
A |
G |
17: 48,012,581 (GRCm39) |
D96G |
probably benign |
Het |
Gbp4 |
A |
G |
5: 105,269,706 (GRCm39) |
M374T |
probably damaging |
Het |
Gimap1 |
C |
T |
6: 48,718,359 (GRCm39) |
|
probably benign |
Het |
Gm10010 |
A |
G |
6: 128,177,576 (GRCm39) |
|
noncoding transcript |
Het |
Gm10355 |
T |
C |
3: 101,214,214 (GRCm39) |
|
noncoding transcript |
Het |
Gmip |
C |
T |
8: 70,264,095 (GRCm39) |
|
probably benign |
Het |
Gpc2 |
A |
T |
5: 138,276,796 (GRCm39) |
F110Y |
possibly damaging |
Het |
Ifi44l |
C |
T |
3: 151,468,396 (GRCm39) |
V45M |
probably benign |
Het |
Il15 |
T |
C |
8: 83,069,890 (GRCm39) |
E58G |
probably damaging |
Het |
Kat2b |
T |
C |
17: 53,951,771 (GRCm39) |
|
probably benign |
Het |
Kcnh7 |
C |
A |
2: 62,607,854 (GRCm39) |
V576L |
probably benign |
Het |
Lrrc66 |
T |
A |
5: 73,772,816 (GRCm39) |
|
probably benign |
Het |
Mical1 |
A |
G |
10: 41,358,235 (GRCm39) |
E416G |
probably benign |
Het |
Mroh3 |
A |
G |
1: 136,118,740 (GRCm39) |
Y526H |
probably damaging |
Het |
Mtx2 |
T |
C |
2: 74,699,634 (GRCm39) |
|
probably benign |
Het |
Naip6 |
A |
T |
13: 100,437,036 (GRCm39) |
Y496N |
probably benign |
Het |
Nfyc |
A |
G |
4: 120,626,081 (GRCm39) |
S73P |
probably benign |
Het |
Or10v9 |
C |
T |
19: 11,832,487 (GRCm39) |
V277M |
probably damaging |
Het |
Or10v9 |
A |
C |
19: 11,832,732 (GRCm39) |
V195G |
probably damaging |
Het |
Or1e23 |
T |
A |
11: 73,407,750 (GRCm39) |
I92F |
probably damaging |
Het |
Or5ak25 |
A |
G |
2: 85,268,845 (GRCm39) |
I219T |
probably benign |
Het |
Or6c69b |
T |
A |
10: 129,627,101 (GRCm39) |
D119V |
probably damaging |
Het |
P2ry14 |
A |
G |
3: 59,022,869 (GRCm39) |
V206A |
probably benign |
Het |
Polg |
G |
A |
7: 79,109,896 (GRCm39) |
|
probably benign |
Het |
Ptgs1 |
G |
A |
2: 36,130,868 (GRCm39) |
|
probably benign |
Het |
Pus7l |
A |
G |
15: 94,421,298 (GRCm39) |
S671P |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,184,112 (GRCm39) |
T1547A |
probably benign |
Het |
Rif1 |
T |
C |
2: 52,001,600 (GRCm39) |
S1685P |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,361,036 (GRCm39) |
Y4452H |
probably damaging |
Het |
Samd7 |
A |
G |
3: 30,810,670 (GRCm39) |
D229G |
probably benign |
Het |
Serpina3j |
T |
C |
12: 104,281,078 (GRCm39) |
S84P |
possibly damaging |
Het |
Slc35d1 |
A |
G |
4: 103,070,441 (GRCm39) |
|
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,249,347 (GRCm39) |
D847G |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Steap4 |
T |
C |
5: 8,027,030 (GRCm39) |
|
probably benign |
Het |
Tg |
A |
C |
15: 66,589,057 (GRCm39) |
T13P |
probably damaging |
Het |
Timeless |
T |
A |
10: 128,080,542 (GRCm39) |
Y474* |
probably null |
Het |
Tmem94 |
T |
C |
11: 115,682,886 (GRCm39) |
|
probably null |
Het |
Trdmt1 |
G |
A |
2: 13,521,459 (GRCm39) |
|
probably benign |
Het |
Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Txnl1 |
A |
G |
18: 63,825,135 (GRCm39) |
|
probably benign |
Het |
Unkl |
T |
C |
17: 25,427,057 (GRCm39) |
|
probably benign |
Het |
Usp54 |
T |
A |
14: 20,639,437 (GRCm39) |
|
probably benign |
Het |
Vcam1 |
T |
C |
3: 115,910,908 (GRCm39) |
K497E |
possibly damaging |
Het |
Vmn1r49 |
C |
A |
6: 90,049,648 (GRCm39) |
S118I |
possibly damaging |
Het |
Vmn2r118 |
T |
C |
17: 55,915,466 (GRCm39) |
K495E |
probably benign |
Het |
Wrnip1 |
G |
A |
13: 33,005,073 (GRCm39) |
C560Y |
possibly damaging |
Het |
Xkr5 |
T |
C |
8: 18,983,563 (GRCm39) |
R660G |
probably benign |
Het |
Zfp280c |
A |
G |
X: 47,637,580 (GRCm39) |
|
probably benign |
Het |
Zfp707 |
G |
A |
15: 75,846,978 (GRCm39) |
A291T |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGGCATCTAACATGAGCCAAATAAA -3'
(R):5'- GCCGATTACCCCAAAACCGATTAAGT -3'
Sequencing Primer
(F):5'- CATGAGCCAAATAAAGTTCCCTTG -3'
(R):5'- TCAATGCTTGTGTACCTTGAAC -3'
|
Posted On |
2013-07-11 |