Incidental Mutation 'R6170:Potefam1'
| ID |
490358 |
| 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 |
044431-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6170 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111058293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 167
(Y167H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000099620]
[ENSMUST00000216421]
[ENSMUST00000217539]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028577
AA Change: Y167H
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: Y167H
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (68/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
A |
6: 72,325,555 (GRCm39) |
S90R |
probably benign |
Het |
| 4930523C07Rik |
C |
A |
1: 159,902,743 (GRCm39) |
N4K |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,528,645 (GRCm39) |
S1167P |
probably damaging |
Het |
| Akr1e1 |
T |
C |
13: 4,652,723 (GRCm39) |
D94G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,279,793 (GRCm39) |
N466D |
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,920,562 (GRCm39) |
I231L |
probably benign |
Het |
| Bpifb3 |
T |
A |
2: 153,761,557 (GRCm39) |
M2K |
unknown |
Het |
| Btbd3 |
T |
C |
2: 138,120,862 (GRCm39) |
L12P |
probably damaging |
Het |
| Btnl6 |
T |
A |
17: 34,734,480 (GRCm39) |
Y94F |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,746,176 (GRCm39) |
L19* |
probably null |
Het |
| Cacna2d2 |
A |
G |
9: 107,404,533 (GRCm39) |
D1114G |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,776,216 (GRCm39) |
|
probably null |
Het |
| Cdh11 |
A |
G |
8: 103,361,442 (GRCm39) |
V632A |
probably benign |
Het |
| Cemip |
T |
G |
7: 83,596,438 (GRCm39) |
T1109P |
possibly damaging |
Het |
| Col7a1 |
C |
A |
9: 108,795,511 (GRCm39) |
P1522Q |
unknown |
Het |
| Colgalt1 |
C |
T |
8: 72,074,514 (GRCm39) |
L409F |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,907 (GRCm39) |
M125V |
probably benign |
Het |
| Cyp2b19 |
T |
G |
7: 26,458,519 (GRCm39) |
M78R |
possibly damaging |
Het |
| Cyp4a12a |
A |
C |
4: 115,184,643 (GRCm39) |
D308A |
possibly damaging |
Het |
| D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
| Ddah1 |
A |
G |
3: 145,597,261 (GRCm39) |
D166G |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,854,795 (GRCm39) |
D60G |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,469,043 (GRCm39) |
D607V |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,774,712 (GRCm39) |
N236K |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,093,689 (GRCm39) |
T600A |
probably benign |
Het |
| Fbxo33 |
T |
C |
12: 59,251,435 (GRCm39) |
N360S |
probably benign |
Het |
| Fbxw5 |
A |
G |
2: 25,393,615 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fhad1 |
T |
A |
4: 141,618,263 (GRCm39) |
K1388* |
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,004 (GRCm39) |
M296V |
probably benign |
Het |
| Gdpd3 |
T |
C |
7: 126,370,336 (GRCm39) |
I257T |
probably benign |
Het |
| Glt28d2 |
T |
G |
3: 85,779,248 (GRCm39) |
D75A |
possibly damaging |
Het |
| Gm14295 |
G |
A |
2: 176,502,937 (GRCm39) |
|
probably benign |
Het |
| Gm28729 |
A |
G |
9: 96,401,494 (GRCm39) |
I98T |
probably damaging |
Het |
| Gm4924 |
C |
T |
10: 82,213,065 (GRCm39) |
Q288* |
probably null |
Het |
| Gpr150 |
T |
C |
13: 76,204,676 (GRCm39) |
M90V |
probably damaging |
Het |
| Ireb2 |
G |
A |
9: 54,794,656 (GRCm39) |
V331I |
probably benign |
Het |
| Lpcat2b |
A |
T |
5: 107,581,760 (GRCm39) |
Y363F |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,918,852 (GRCm39) |
I410V |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,537 (GRCm39) |
E58G |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,671 (GRCm39) |
D603V |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,046,905 (GRCm39) |
Y1149F |
probably damaging |
Het |
| Nrg1 |
A |
G |
8: 32,308,508 (GRCm39) |
Y503H |
probably damaging |
Het |
| Nxpe4 |
C |
T |
9: 48,304,104 (GRCm39) |
P64S |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,349,811 (GRCm39) |
T219S |
unknown |
Het |
| Plagl1 |
T |
C |
10: 13,002,975 (GRCm39) |
L81P |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,311,042 (GRCm39) |
V481A |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,866,174 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Ppargc1a |
C |
A |
5: 51,631,253 (GRCm39) |
A459S |
probably damaging |
Het |
| Ppp1r13l |
A |
G |
7: 19,104,362 (GRCm39) |
D253G |
probably benign |
Het |
| Prl2c2 |
T |
A |
13: 13,176,757 (GRCm39) |
N55Y |
probably damaging |
Het |
| Prlr |
T |
C |
15: 10,328,935 (GRCm39) |
F470S |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,004,500 (GRCm39) |
D44G |
probably benign |
Het |
| Sfxn1 |
T |
G |
13: 54,260,526 (GRCm39) |
S291R |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,446 (GRCm39) |
D224G |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,784,392 (GRCm39) |
F123S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,849,345 (GRCm39) |
V937A |
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,645,055 (GRCm39) |
M802L |
probably benign |
Het |
| Tmem150a |
G |
A |
6: 72,333,728 (GRCm39) |
R30H |
probably benign |
Het |
| Tmem210 |
G |
A |
2: 25,178,776 (GRCm39) |
|
probably null |
Het |
| Tor3a |
T |
C |
1: 156,484,143 (GRCm39) |
N269S |
possibly damaging |
Het |
| Trp63 |
A |
C |
16: 25,703,603 (GRCm39) |
N423T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,045 (GRCm39) |
I86V |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,348 (GRCm39) |
I333V |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,240,186 (GRCm39) |
H385N |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,687,014 (GRCm39) |
|
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,381,661 (GRCm39) |
Y57H |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,964,678 (GRCm39) |
H29Q |
probably damaging |
Het |
| Zfp532 |
T |
A |
18: 65,757,509 (GRCm39) |
S481T |
probably damaging |
Het |
| Zfp955b |
G |
T |
17: 33,521,084 (GRCm39) |
R184S |
probably benign |
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 |
|
|
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'- GTGTTACCTCACACAATTTGGAAAC -3'
(R):5'- AACAAGCCATCTGATTTTCGG -3'
Sequencing Primer
(F):5'- GCTCTGATGGCTCTTTTAAAAATCC -3'
(R):5'- GGTATGCTCCTAGGCTGTTCAAAAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation