Incidental Mutation 'R9213:Potefam1'
| ID |
698981 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111020699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 136
(R136S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
| 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 |
unknown
Transcript: ENSMUST00000142636
AA Change: R136S
|
| SMART Domains |
Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: R136S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
A |
13: 104,581,440 (GRCm39) |
C852S |
probably damaging |
Het |
| Arf1 |
A |
G |
11: 59,104,186 (GRCm39) |
V43A |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,340,000 (GRCm39) |
M674K |
probably benign |
Het |
| Asb1 |
A |
C |
1: 91,482,531 (GRCm39) |
K314N |
probably damaging |
Het |
| Aste1 |
T |
C |
9: 105,274,294 (GRCm39) |
F178S |
probably damaging |
Het |
| Avl9 |
T |
C |
6: 56,720,441 (GRCm39) |
F493S |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,009,422 (GRCm39) |
Y220C |
probably benign |
Het |
| Ccdc60 |
T |
C |
5: 116,328,185 (GRCm39) |
E93G |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,377,779 (GRCm39) |
H295R |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,255,628 (GRCm39) |
K87E |
possibly damaging |
Het |
| Chordc1 |
G |
T |
9: 18,223,789 (GRCm39) |
|
probably null |
Het |
| Ciita |
A |
T |
16: 10,319,742 (GRCm39) |
D55V |
probably damaging |
Het |
| Cklf |
T |
C |
8: 104,988,125 (GRCm39) |
V86A |
probably damaging |
Het |
| Clock |
T |
A |
5: 76,393,376 (GRCm39) |
N189I |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,444,205 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
C |
G |
8: 106,700,245 (GRCm39) |
C487S |
probably benign |
Het |
| Dtwd2 |
A |
G |
18: 49,856,799 (GRCm39) |
F163L |
probably benign |
Het |
| Eln |
C |
T |
5: 134,735,456 (GRCm39) |
V776M |
unknown |
Het |
| Fanci |
T |
A |
7: 79,055,971 (GRCm39) |
M201K |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,608,372 (GRCm39) |
T747A |
probably damaging |
Het |
| Galnt9 |
T |
A |
5: 110,767,108 (GRCm39) |
C526* |
probably null |
Het |
| Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,100,945 (GRCm39) |
S247P |
probably damaging |
Het |
| Gm4846 |
C |
T |
1: 166,322,142 (GRCm39) |
D142N |
probably damaging |
Het |
| Kbtbd2 |
T |
A |
6: 56,756,917 (GRCm39) |
E273V |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,648,428 (GRCm39) |
E145G |
possibly damaging |
Het |
| Mmp1a |
G |
T |
9: 7,475,364 (GRCm39) |
V378F |
possibly damaging |
Het |
| Mon2 |
G |
T |
10: 122,872,016 (GRCm39) |
S336* |
probably null |
Het |
| Mrgprh |
T |
A |
17: 13,095,917 (GRCm39) |
N52K |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,772,922 (GRCm39) |
F985L |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,638,677 (GRCm39) |
N207S |
probably benign |
Het |
| Nkpd1 |
A |
G |
7: 19,258,009 (GRCm39) |
D596G |
probably damaging |
Het |
| Oc90 |
C |
A |
15: 65,761,557 (GRCm39) |
E154* |
probably null |
Het |
| Or8b101 |
T |
A |
9: 38,020,426 (GRCm39) |
M143K |
possibly damaging |
Het |
| Or8b3 |
C |
A |
9: 38,315,047 (GRCm39) |
Y292* |
probably null |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,874 (GRCm39) |
Y361C |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Ppp1r26 |
A |
G |
2: 28,343,649 (GRCm39) |
N1093S |
probably benign |
Het |
| Prex1 |
G |
T |
2: 166,417,669 (GRCm39) |
R1313S |
probably damaging |
Het |
| Ptprh |
A |
T |
7: 4,583,911 (GRCm39) |
V227E |
probably damaging |
Het |
| Pycr2 |
A |
G |
1: 180,733,473 (GRCm39) |
D58G |
probably benign |
Het |
| Rad54b |
G |
T |
4: 11,609,321 (GRCm39) |
E591* |
probably null |
Het |
| Rptor |
T |
C |
11: 119,494,765 (GRCm39) |
S44P |
probably benign |
Het |
| Safb2 |
T |
A |
17: 56,882,602 (GRCm39) |
T344S |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,856 (GRCm39) |
E135G |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,048,708 (GRCm39) |
I167N |
probably damaging |
Het |
| Shoc2 |
C |
T |
19: 54,016,231 (GRCm39) |
T415I |
probably benign |
Het |
| Sobp |
T |
C |
10: 42,898,374 (GRCm39) |
I404V |
probably benign |
Het |
| Ssbp4 |
G |
T |
8: 71,052,395 (GRCm39) |
L147I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Syt14 |
A |
G |
1: 192,612,814 (GRCm39) |
V379A |
probably damaging |
Het |
| Tat |
T |
G |
8: 110,722,820 (GRCm39) |
I294S |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,825,899 (GRCm39) |
V86A |
probably damaging |
Het |
| Tfap2a |
T |
A |
13: 40,870,875 (GRCm39) |
I338F |
possibly damaging |
Het |
| Tmco6 |
C |
A |
18: 36,872,384 (GRCm39) |
N365K |
probably damaging |
Het |
| Tmub2 |
G |
A |
11: 102,178,475 (GRCm39) |
R164K |
|
Het |
| Togaram1 |
A |
G |
12: 65,065,906 (GRCm39) |
I1637V |
possibly damaging |
Het |
| Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
| Ybx1 |
T |
A |
4: 119,138,794 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,676,756 (GRCm39) |
I2602N |
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 |
|
|
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 |
|
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'- TGTTGTTGAAACCCGTTAACTC -3'
(R):5'- GAAAGCATGTCTTCCACCTGC -3'
Sequencing Primer
(F):5'- TTGAAACCCGTTAACTCCCTGAAATC -3'
(R):5'- CCTCCAATGTTAACGTTACAGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation