Incidental Mutation 'R8671:Potefam1'
| ID |
661138 |
| 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 |
068526-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 111059877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000099620]
[ENSMUST00000216421]
[ENSMUST00000217539]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000099620
|
| SMART Domains |
Protein: ENSMUSP00000097215
Gene: ENSMUSG00000074966
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
305 |
9.8e-37 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
5.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217539
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
C |
T |
4: 73,861,166 (GRCm39) |
E145K |
probably damaging |
Het |
| Ambp |
A |
T |
4: 63,068,656 (GRCm39) |
Y120* |
probably null |
Het |
| Ankrd36 |
C |
T |
11: 5,579,312 (GRCm39) |
A192V |
probably benign |
Het |
| Apol7e |
A |
T |
15: 77,601,803 (GRCm39) |
M134L |
probably benign |
Het |
| Atg9b |
A |
T |
5: 24,591,107 (GRCm39) |
N774K |
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,560,596 (GRCm39) |
N862K |
possibly damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,646,948 (GRCm39) |
D648V |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,790,934 (GRCm39) |
P1855T |
unknown |
Het |
| Clcnkb |
T |
A |
4: 141,139,541 (GRCm39) |
T154S |
probably damaging |
Het |
| Cux1 |
C |
T |
5: 136,279,454 (GRCm39) |
R609H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,252,667 (GRCm39) |
D413G |
possibly damaging |
Het |
| Elp1 |
A |
G |
4: 56,771,453 (GRCm39) |
L948P |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,443,501 (GRCm39) |
|
probably null |
Het |
| Grm5 |
T |
C |
7: 87,765,498 (GRCm39) |
|
probably null |
Het |
| Hectd3 |
T |
G |
4: 116,853,778 (GRCm39) |
F225V |
possibly damaging |
Het |
| Hpcal4 |
G |
T |
4: 123,082,976 (GRCm39) |
M107I |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Larp4 |
C |
A |
15: 99,908,339 (GRCm39) |
Q607K |
probably benign |
Het |
| Marchf8 |
A |
G |
6: 116,378,815 (GRCm39) |
R250G |
probably benign |
Het |
| Med13 |
A |
C |
11: 86,161,923 (GRCm39) |
N2135K |
probably damaging |
Het |
| Msh5 |
T |
A |
17: 35,264,909 (GRCm39) |
R89* |
probably null |
Het |
| Musk |
T |
G |
4: 58,286,051 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,022,609 (GRCm39) |
Q261R |
unknown |
Het |
| Npr1 |
A |
T |
3: 90,363,464 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,107,899 (GRCm39) |
V1002E |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,804 (GRCm39) |
Y194C |
possibly damaging |
Het |
| Or4c103 |
A |
T |
2: 88,513,449 (GRCm39) |
F209Y |
probably benign |
Het |
| Or4f14c |
T |
A |
2: 111,941,333 (GRCm39) |
K88M |
probably damaging |
Het |
| Or5w15 |
A |
T |
2: 87,567,990 (GRCm39) |
L226Q |
probably damaging |
Het |
| Pcare |
G |
T |
17: 72,058,372 (GRCm39) |
A435E |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,126,086 (GRCm39) |
Y28C |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Potefam3e |
T |
A |
8: 19,784,775 (GRCm39) |
L203* |
probably null |
Het |
| Prkd1 |
T |
A |
12: 50,435,191 (GRCm39) |
N512I |
probably benign |
Het |
| Pwwp2b |
C |
T |
7: 138,836,326 (GRCm39) |
P589L |
probably damaging |
Het |
| Rasgrp4 |
G |
A |
7: 28,842,452 (GRCm39) |
G242D |
probably damaging |
Het |
| Rcbtb1 |
T |
G |
14: 59,467,973 (GRCm39) |
V480G |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,501 (GRCm39) |
S945G |
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,824,863 (GRCm39) |
Q242* |
probably null |
Het |
| Slfn3 |
T |
A |
11: 83,103,825 (GRCm39) |
V232E |
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,879,365 (GRCm39) |
K705M |
probably damaging |
Het |
| Syn2 |
C |
A |
6: 115,255,128 (GRCm39) |
S480* |
probably null |
Het |
| Thsd4 |
A |
T |
9: 60,301,728 (GRCm39) |
L189H |
probably damaging |
Het |
| Tinagl1 |
T |
C |
4: 130,061,597 (GRCm39) |
T250A |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,683 (GRCm39) |
C418S |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,683,385 (GRCm39) |
E110G |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 32,693,722 (GRCm39) |
|
probably benign |
Het |
| Xcl1 |
T |
C |
1: 164,759,419 (GRCm39) |
M94V |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,095 (GRCm39) |
S413P |
possibly damaging |
Het |
| Zfp454 |
A |
C |
11: 50,764,595 (GRCm39) |
I279S |
possibly damaging |
Het |
| Zfp971 |
A |
C |
2: 177,675,730 (GRCm39) |
Q443P |
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 |
|
|
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 |
|
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'- ATCGCAGAAACCCAATGGTG -3'
(R):5'- GATGGCATACGGATTTACTTTCC -3'
Sequencing Primer
(F):5'- GGTGTCTTTTCTTTAACTCCATGAAC -3'
(R):5'- ACAGAAGTGGCTTGTTCATGCAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation