Incidental Mutation 'R6654:Potefam1'
| ID |
526545 |
| 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 |
044775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111002229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 154
(M154L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000142636]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000142636
AA Change: M154L
|
| SMART Domains |
Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: M154L
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Armc6 |
T |
C |
8: 70,684,025 (GRCm39) |
E9G |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ddc |
A |
T |
11: 11,830,452 (GRCm39) |
I64N |
probably damaging |
Het |
| Exd1 |
T |
A |
2: 119,355,198 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
C |
A |
1: 166,457,956 (GRCm39) |
G466C |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,785,427 (GRCm39) |
D316G |
possibly damaging |
Het |
| Gsta4 |
T |
C |
9: 78,116,381 (GRCm39) |
F197L |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,056,486 (GRCm39) |
Y649H |
probably damaging |
Het |
| Kif16b |
T |
C |
2: 142,543,197 (GRCm39) |
|
probably benign |
Het |
| Krtap12-1 |
T |
C |
10: 77,556,537 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,927,457 (GRCm39) |
S537N |
probably damaging |
Het |
| Med12l |
G |
T |
3: 59,169,713 (GRCm39) |
G1626W |
probably damaging |
Het |
| Mfng |
T |
A |
15: 78,643,539 (GRCm39) |
T223S |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,550 (GRCm39) |
T321A |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,123,322 (GRCm39) |
I672V |
possibly damaging |
Het |
| Nbas |
C |
T |
12: 13,533,875 (GRCm39) |
Q1837* |
probably null |
Het |
| Nlrc4 |
G |
A |
17: 74,752,523 (GRCm39) |
A620V |
possibly damaging |
Het |
| Nubpl |
T |
A |
12: 52,357,516 (GRCm39) |
V310E |
probably damaging |
Het |
| Or4p21 |
T |
G |
2: 88,277,016 (GRCm39) |
T89P |
possibly damaging |
Het |
| Or5aq6 |
A |
G |
2: 86,923,394 (GRCm39) |
S116P |
probably benign |
Het |
| P2ry12 |
A |
G |
3: 59,125,441 (GRCm39) |
L78P |
probably damaging |
Het |
| Pira1 |
A |
T |
7: 3,738,928 (GRCm39) |
S560T |
probably benign |
Het |
| Pkd1l3 |
T |
G |
8: 110,350,915 (GRCm39) |
S587A |
probably benign |
Het |
| Prkacb |
A |
G |
3: 146,456,298 (GRCm39) |
V145A |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,946,833 (GRCm39) |
E1256G |
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,788,988 (GRCm39) |
Q611R |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,891,941 (GRCm39) |
D1903G |
possibly damaging |
Het |
| Tmem39b |
A |
T |
4: 129,580,619 (GRCm39) |
V291D |
probably damaging |
Het |
| Unc79 |
A |
C |
12: 103,045,307 (GRCm39) |
K685Q |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,045,308 (GRCm39) |
K685I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r112 |
G |
T |
17: 22,822,450 (GRCm39) |
S376I |
possibly damaging |
Het |
| Zfp850 |
A |
T |
7: 27,684,640 (GRCm39) |
C35* |
probably null |
Het |
| Zfp974 |
A |
G |
7: 27,625,828 (GRCm39) |
V14A |
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 |
|
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 |
|
|
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'- TCAGTTCAAATACCCTGGATCAG -3'
(R):5'- GAGTCCTTCCATTAACATTACACTGC -3'
Sequencing Primer
(F):5'- TACCCTGGATCAGATCTCAGG -3'
(R):5'- ACTATGCCTGAATGATGCTTTTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation