Incidental Mutation 'R4489:Potefam1'
| ID |
330620 |
| 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 |
041745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4489 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
110880755-111059948 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111051047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 250
(Y250H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028577
AA Change: Y250H
PolyPhen 2
Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: Y250H
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
94% (50/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,734,086 (GRCm39) |
A754V |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,165,479 (GRCm39) |
N582S |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,924,553 (GRCm39) |
T425S |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Cand2 |
A |
G |
6: 115,766,427 (GRCm39) |
D344G |
probably damaging |
Het |
| Clta |
T |
G |
4: 44,032,417 (GRCm39) |
F198V |
probably damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Csmd2 |
G |
A |
4: 128,275,738 (GRCm39) |
V826M |
possibly damaging |
Het |
| Dnah11 |
C |
T |
12: 117,880,631 (GRCm39) |
V3830I |
probably benign |
Het |
| Fhl4 |
T |
C |
10: 84,934,319 (GRCm39) |
D154G |
possibly damaging |
Het |
| Gbp4 |
T |
A |
5: 105,269,773 (GRCm39) |
T352S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,368,548 (GRCm39) |
D1076G |
probably damaging |
Het |
| Gm21370 |
T |
A |
13: 120,488,378 (GRCm39) |
Y57F |
probably benign |
Het |
| Gm6489 |
A |
G |
1: 31,326,320 (GRCm39) |
|
noncoding transcript |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,424,320 (GRCm39) |
I660R |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,551,501 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
A |
8: 69,588,347 (GRCm39) |
K536N |
possibly damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,063,928 (GRCm39) |
N49K |
probably benign |
Het |
| Mzt1 |
T |
C |
14: 99,273,926 (GRCm39) |
*42W |
probably null |
Het |
| Nkx3-2 |
T |
G |
5: 41,919,304 (GRCm39) |
Q228P |
probably damaging |
Het |
| Nufip2 |
T |
G |
11: 77,577,055 (GRCm39) |
M1R |
probably null |
Het |
| Obscn |
G |
A |
11: 58,922,417 (GRCm39) |
T5921M |
possibly damaging |
Het |
| Or4c116 |
T |
C |
2: 88,941,916 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,969 (GRCm39) |
Q533K |
possibly damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,809 (GRCm39) |
E285G |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rgs21 |
T |
C |
1: 144,395,613 (GRCm39) |
T92A |
possibly damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,703,282 (GRCm39) |
Y123F |
probably benign |
Het |
| Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
| Sgf29 |
T |
C |
7: 126,263,110 (GRCm39) |
S29P |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Specc1 |
T |
G |
11: 62,042,653 (GRCm39) |
|
probably null |
Het |
| Tg |
A |
T |
15: 66,579,791 (GRCm39) |
Q1532L |
probably damaging |
Het |
| Timm44 |
A |
C |
8: 4,316,654 (GRCm39) |
S297A |
possibly damaging |
Het |
| Txndc9 |
G |
T |
1: 38,034,871 (GRCm39) |
S11* |
probably null |
Het |
| Uggt1 |
C |
T |
1: 36,185,749 (GRCm39) |
W1478* |
probably null |
Het |
| Washc3 |
T |
C |
10: 88,051,893 (GRCm39) |
V87A |
probably benign |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGGTACTTGGTTCAATCTTCAGC -3'
(R):5'- TACAGAAGGCTTCCTACCCATTC -3'
Sequencing Primer
(F):5'- GGTTCAATCTTCAGCATTTCCAAATC -3'
(R):5'- AATGAACTCTTGCTTACCATAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation