Incidental Mutation 'R5735:Potefam1'
| ID |
451633 |
| 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 |
043349-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5735 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 111055837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 183
(L183*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000216421]
[ENSMUST00000217539]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028577
AA Change: L183*
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: L183*
| 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: ENSMUST00000216421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217539
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
C |
A |
13: 70,984,337 (GRCm39) |
D109Y |
possibly damaging |
Het |
| Armc8 |
T |
A |
9: 99,379,447 (GRCm39) |
|
probably null |
Het |
| Atg4b |
G |
T |
1: 93,701,519 (GRCm39) |
G71V |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,042,601 (GRCm39) |
M54L |
probably benign |
Het |
| Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
| Bnc2 |
A |
C |
4: 84,210,908 (GRCm39) |
L487R |
probably damaging |
Het |
| Cacng7 |
T |
C |
7: 3,387,539 (GRCm39) |
S141P |
probably benign |
Het |
| Carmil2 |
G |
A |
8: 106,424,663 (GRCm39) |
G1361D |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,560 (GRCm39) |
I1907V |
probably benign |
Het |
| Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
| Cfap73 |
T |
A |
5: 120,770,671 (GRCm39) |
Q33L |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,837,856 (GRCm39) |
|
probably null |
Het |
| Cmtm2a |
A |
T |
8: 105,019,418 (GRCm39) |
I57N |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,435,727 (GRCm39) |
D836V |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,321,643 (GRCm39) |
V3839A |
possibly damaging |
Het |
| Enpp1 |
A |
T |
10: 24,530,817 (GRCm39) |
F546L |
possibly damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,940,290 (GRCm39) |
T507A |
probably damaging |
Het |
| Erg28 |
C |
T |
12: 85,862,926 (GRCm39) |
E129K |
probably benign |
Het |
| Erlec1 |
A |
T |
11: 30,900,591 (GRCm39) |
N153K |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,432,679 (GRCm39) |
E490G |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,003,725 (GRCm39) |
R1815C |
probably damaging |
Het |
| Galnt1 |
T |
G |
18: 24,397,577 (GRCm39) |
I226S |
possibly damaging |
Het |
| Ifnl2 |
T |
A |
7: 28,209,614 (GRCm39) |
I58F |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,245,572 (GRCm39) |
N554D |
probably benign |
Het |
| Kcna10 |
A |
G |
3: 107,102,394 (GRCm39) |
I342V |
probably benign |
Het |
| Kif6 |
G |
A |
17: 50,139,210 (GRCm39) |
E561K |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lpar2 |
G |
T |
8: 70,276,385 (GRCm39) |
R58L |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 140,260,809 (GRCm39) |
T27A |
possibly damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,843,120 (GRCm39) |
V387D |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,050,262 (GRCm39) |
T231S |
probably benign |
Het |
| Or4a70 |
A |
T |
2: 89,323,812 (GRCm39) |
N281K |
probably damaging |
Het |
| Or52n5 |
A |
T |
7: 104,587,966 (GRCm39) |
T78S |
probably benign |
Het |
| Or5aq1b |
A |
T |
2: 86,901,756 (GRCm39) |
C241S |
probably damaging |
Het |
| Or8h10 |
A |
G |
2: 86,809,044 (GRCm39) |
V32A |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,160,024 (GRCm39) |
I432F |
probably damaging |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Pomt1 |
G |
A |
2: 32,133,517 (GRCm39) |
G218R |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,381,205 (GRCm39) |
C273S |
probably damaging |
Het |
| Prdm5 |
C |
T |
6: 65,904,974 (GRCm39) |
T157I |
possibly damaging |
Het |
| Psen2 |
T |
A |
1: 180,068,491 (GRCm39) |
E54V |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,702,686 (GRCm39) |
H1217Q |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,376,484 (GRCm39) |
S1306P |
probably damaging |
Het |
| Ptpru |
G |
T |
4: 131,565,401 (GRCm39) |
P23T |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,434,057 (GRCm39) |
E626G |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,312,622 (GRCm39) |
M1191K |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,314,803 (GRCm39) |
N1086I |
probably benign |
Het |
| Sgms2 |
A |
T |
3: 131,129,866 (GRCm39) |
M174K |
probably damaging |
Het |
| Skor1 |
T |
A |
9: 63,053,346 (GRCm39) |
I180F |
probably damaging |
Het |
| Slit2 |
T |
G |
5: 48,416,958 (GRCm39) |
C1003W |
probably damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,104,462 (GRCm39) |
Q560L |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,598,530 (GRCm39) |
I51V |
probably benign |
Het |
| Tmem203 |
T |
C |
2: 25,146,085 (GRCm39) |
V135A |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,967,138 (GRCm39) |
T1212A |
probably benign |
Het |
| Trgv5 |
T |
G |
13: 19,376,695 (GRCm39) |
H47Q |
probably benign |
Het |
| Trim2 |
G |
A |
3: 84,075,029 (GRCm39) |
A697V |
probably damaging |
Het |
| Ubxn4 |
T |
C |
1: 128,186,677 (GRCm39) |
S37P |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,600,716 (GRCm39) |
I671M |
possibly damaging |
Het |
| Vmn2r94 |
G |
T |
17: 18,464,066 (GRCm39) |
S741R |
probably damaging |
Het |
| Vwce |
C |
A |
19: 10,624,431 (GRCm39) |
D414E |
probably benign |
Het |
| Zfp397 |
T |
C |
18: 24,093,249 (GRCm39) |
S245P |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,984,579 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Zfp809 |
T |
A |
9: 22,150,227 (GRCm39) |
Y241* |
probably null |
Het |
| Zfp995 |
C |
T |
17: 22,101,010 (GRCm39) |
C29Y |
probably benign |
Het |
| Zfta |
A |
G |
19: 7,400,161 (GRCm39) |
E209G |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,320,147 (GRCm39) |
D1066G |
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 |
|
|
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 |
|
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'- AGGGTATAGGGAACTTTCAGGTTAG -3'
(R):5'- TAGACCCACAAGATAGTAGTCAAAG -3'
Sequencing Primer
(F):5'- ATAGGGAACTTTCAGGTTAGCATTTG -3'
(R):5'- GTCAAAGGGTCTTACTATCACAGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation