Incidental Mutation 'R4821:Potefam1'
ID |
370200 |
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 |
042437-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R4821 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 111034490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000028577]
[ENSMUST00000142636]
[ENSMUST00000142636]
|
AlphaFold |
Q05AC5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028577
|
SMART Domains |
Protein: ENSMUSP00000028577 Gene: ENSMUSG00000027157
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 null
Transcript: ENSMUST00000028577
|
SMART Domains |
Protein: ENSMUSP00000028577 Gene: ENSMUSG00000027157
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 null
Transcript: ENSMUST00000142636
|
SMART Domains |
Protein: ENSMUSP00000117759 Gene: ENSMUSG00000027157
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142636
|
SMART Domains |
Protein: ENSMUSP00000117759 Gene: ENSMUSG00000027157
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 |
0.9493 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,871 (GRCm39) |
K150R |
probably damaging |
Het |
Aak1 |
T |
C |
6: 86,827,171 (GRCm39) |
V46A |
probably damaging |
Het |
Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
Adam33 |
G |
A |
2: 130,903,115 (GRCm39) |
P43L |
probably benign |
Het |
Adamtsl2 |
T |
A |
2: 26,988,604 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
G |
7: 75,327,255 (GRCm39) |
|
probably benign |
Het |
Art1 |
T |
A |
7: 101,756,385 (GRCm39) |
L192Q |
probably damaging |
Het |
Baalc |
A |
G |
15: 38,796,575 (GRCm39) |
|
probably benign |
Het |
Baz2a |
A |
G |
10: 127,946,978 (GRCm39) |
E164G |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,631,144 (GRCm39) |
I391V |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,673,386 (GRCm39) |
T497A |
probably damaging |
Het |
Cap2 |
C |
A |
13: 46,763,586 (GRCm39) |
T164N |
probably damaging |
Het |
Ccdc57 |
A |
G |
11: 120,751,225 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
T |
C |
12: 100,904,338 (GRCm39) |
N1120S |
probably benign |
Het |
Cfap210 |
T |
C |
2: 69,612,452 (GRCm39) |
E96G |
possibly damaging |
Het |
Chd7 |
T |
A |
4: 8,844,706 (GRCm39) |
V1605D |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,622,622 (GRCm39) |
|
probably benign |
Het |
Commd3 |
T |
C |
2: 18,677,339 (GRCm39) |
S22P |
probably benign |
Het |
Cpd |
T |
C |
11: 76,737,063 (GRCm39) |
I244V |
probably benign |
Het |
Cpeb2 |
C |
A |
5: 43,390,817 (GRCm39) |
|
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,060,635 (GRCm39) |
D165G |
probably damaging |
Het |
Ddx1 |
T |
C |
12: 13,289,148 (GRCm39) |
Y152C |
probably damaging |
Het |
Dennd4a |
G |
A |
9: 64,804,531 (GRCm39) |
C1290Y |
possibly damaging |
Het |
Ebf4 |
G |
A |
2: 130,148,965 (GRCm39) |
M232I |
probably benign |
Het |
Farp2 |
A |
G |
1: 93,502,192 (GRCm39) |
|
probably null |
Het |
Frk |
T |
C |
10: 34,360,233 (GRCm39) |
V78A |
probably benign |
Het |
Gm5799 |
A |
G |
14: 43,782,098 (GRCm39) |
D90G |
probably damaging |
Het |
Gpr45 |
C |
G |
1: 43,069,613 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
C |
T |
5: 107,002,606 (GRCm39) |
|
probably null |
Het |
Igkv4-57-1 |
T |
A |
6: 69,521,387 (GRCm39) |
D105V |
probably damaging |
Het |
Impdh2-ps |
A |
G |
8: 100,757,995 (GRCm39) |
|
noncoding transcript |
Het |
Kctd4 |
G |
A |
14: 76,200,217 (GRCm39) |
V63I |
probably benign |
Het |
Lcn6 |
T |
A |
2: 25,570,822 (GRCm39) |
L137M |
probably damaging |
Het |
Lonrf1 |
T |
C |
8: 36,687,126 (GRCm39) |
N737D |
probably benign |
Het |
Mcu |
C |
T |
10: 59,303,511 (GRCm39) |
V109M |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,039,500 (GRCm39) |
K186N |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,384,727 (GRCm39) |
D533G |
probably damaging |
Het |
Nae1 |
A |
C |
8: 105,246,416 (GRCm39) |
C294G |
probably damaging |
Het |
Ncapg2 |
T |
G |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
Nkx2-2 |
A |
T |
2: 147,027,763 (GRCm39) |
L59Q |
possibly damaging |
Het |
Nrxn3 |
C |
T |
12: 90,171,483 (GRCm39) |
T295I |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,897,652 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,931,293 (GRCm39) |
M5781K |
probably damaging |
Het |
Or11g24 |
A |
G |
14: 50,662,206 (GRCm39) |
T77A |
possibly damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,570 (GRCm39) |
|
noncoding transcript |
Het |
Or4z4 |
T |
A |
19: 12,076,110 (GRCm39) |
M298L |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,467,381 (GRCm39) |
P101T |
probably damaging |
Het |
Pot1b |
A |
G |
17: 55,979,885 (GRCm39) |
S324P |
possibly damaging |
Het |
Ppcdc |
C |
T |
9: 57,342,194 (GRCm39) |
V43I |
probably benign |
Het |
Prr13 |
A |
T |
15: 102,369,120 (GRCm39) |
|
probably benign |
Het |
Rab10os |
T |
A |
12: 3,287,322 (GRCm39) |
|
noncoding transcript |
Het |
Rabgap1 |
T |
C |
2: 37,422,531 (GRCm39) |
S595P |
probably damaging |
Het |
Rap1gap |
T |
C |
4: 137,439,440 (GRCm39) |
S126P |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,114,185 (GRCm39) |
|
probably null |
Het |
Slc5a6 |
T |
A |
5: 31,194,228 (GRCm39) |
K610* |
probably null |
Het |
Sun5 |
C |
T |
2: 153,711,386 (GRCm39) |
V27I |
probably benign |
Het |
Tmco5b |
T |
C |
2: 113,120,102 (GRCm39) |
I126T |
probably benign |
Het |
Tmed7 |
G |
A |
18: 46,726,480 (GRCm39) |
Q92* |
probably null |
Het |
Trav7d-2 |
A |
G |
14: 52,921,885 (GRCm39) |
D98G |
probably benign |
Het |
Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,485,848 (GRCm39) |
V2986A |
probably benign |
Het |
Usp33 |
T |
C |
3: 152,064,310 (GRCm39) |
V58A |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,293 (GRCm39) |
M373L |
probably benign |
Het |
Ywhaq |
T |
C |
12: 21,467,512 (GRCm39) |
|
probably benign |
Het |
Zbbx |
G |
A |
3: 74,989,054 (GRCm39) |
H345Y |
possibly damaging |
Het |
Zfp346 |
G |
T |
13: 55,261,626 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
C |
T |
11: 73,975,033 (GRCm39) |
A434V |
probably benign |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
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 |
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'- AGGGTAGAATGCAAACATTTCAAAC -3'
(R):5'- TGATATACCAAGTCCATCTCATCAAAG -3'
Sequencing Primer
(F):5'- AATGATGTGATTCTGTCATTGTTCC -3'
(R):5'- AAGTCCATCTCATCAAAGACATAATC -3'
|
Posted On |
2016-02-04 |