Incidental Mutation 'R6496:Potefam1'
| ID |
522995 |
| 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 |
044628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6496 (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 110994817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 232
(H232L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000142636]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000142636
AA Change: H232L
|
| SMART Domains |
Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: H232L
| 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 |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,839,199 (GRCm39) |
C676S |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
| Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
| Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
| Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,375,716 (GRCm39) |
S611P |
possibly damaging |
Het |
| Fam217a |
G |
A |
13: 35,094,785 (GRCm39) |
R234* |
probably null |
Het |
| Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
| Kera |
T |
A |
10: 97,448,672 (GRCm39) |
N297K |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
| Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
| Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,709 (GRCm39) |
F605S |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
| Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
| Thoc7 |
T |
C |
14: 13,954,593 (GRCm38) |
N28S |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
| Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
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 |
|
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 |
|
|
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'- CGCTTAGCAACATAGAGATGTG -3'
(R):5'- TAAAGTCTGTCAACATCCCCTC -3'
Sequencing Primer
(F):5'- GAACTAACACTGTGAGGTTTACC -3'
(R):5'- TGTCAACATCCCCTCAAATTAAAGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation