Incidental Mutation 'R6911:Poteg'
| ID |
539027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poteg
|
| Ensembl Gene |
ENSMUSG00000063932 |
| Gene Name |
POTE ankyrin domain family, member G |
| Synonyms |
4921537P18Rik, 4930456F22Rik |
| MMRRC Submission |
045003-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6911 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27937698-27985200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27940326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 165
(Y165C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081321]
[ENSMUST00000209669]
[ENSMUST00000210427]
|
| AlphaFold |
A5H0M4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081321
AA Change: Y169C
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: Y169C
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
80 |
109 |
1.46e-2 |
SMART |
|
ANK
|
113 |
142 |
7.89e1 |
SMART |
|
ANK
|
146 |
175 |
3.1e-6 |
SMART |
|
ANK
|
179 |
208 |
2.81e-4 |
SMART |
|
ANK
|
212 |
241 |
8.62e1 |
SMART |
|
ANK
|
245 |
273 |
1.23e3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209669
AA Change: Y107C
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210427
AA Change: Y165C
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,948,068 (GRCm39) |
M655K |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,078,146 (GRCm39) |
F693I |
probably benign |
Het |
| Amt |
G |
T |
9: 108,178,428 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
T |
5: 122,578,343 (GRCm39) |
K443* |
probably null |
Het |
| Apcs |
A |
G |
1: 172,721,752 (GRCm39) |
V198A |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,056,008 (GRCm39) |
V271A |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,159,179 (GRCm39) |
I459N |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,912,411 (GRCm39) |
I555T |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,563,497 (GRCm39) |
E810G |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,199,009 (GRCm39) |
D101G |
probably damaging |
Het |
| Coq7 |
T |
A |
7: 118,109,385 (GRCm39) |
H221L |
unknown |
Het |
| Depdc5 |
A |
T |
5: 33,081,536 (GRCm39) |
Q566L |
probably damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,077,446 (GRCm39) |
V233I |
probably benign |
Het |
| Erp44 |
G |
T |
4: 48,204,268 (GRCm39) |
H298N |
probably benign |
Het |
| Fam162a |
A |
G |
16: 35,866,747 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
G |
6: 113,525,346 (GRCm39) |
E274G |
probably damaging |
Het |
| Fkbp15 |
G |
T |
4: 62,258,527 (GRCm39) |
Q147K |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,885,152 (GRCm39) |
|
probably null |
Het |
| Gfm1 |
T |
C |
3: 67,358,636 (GRCm39) |
V409A |
possibly damaging |
Het |
| Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 34,542,185 (GRCm39) |
M1L |
probably benign |
Het |
| Helz |
C |
T |
11: 107,510,051 (GRCm39) |
T558I |
probably benign |
Het |
| Htra4 |
A |
G |
8: 25,515,721 (GRCm39) |
V439A |
probably damaging |
Het |
| Kctd17 |
A |
G |
15: 78,318,206 (GRCm39) |
E95G |
probably damaging |
Het |
| Kif18b |
T |
C |
11: 102,807,206 (GRCm39) |
D43G |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,063,711 (GRCm39) |
S550L |
possibly damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,042,529 (GRCm39) |
C311* |
probably null |
Het |
| Mcoln2 |
C |
T |
3: 145,898,011 (GRCm39) |
T44I |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,893,723 (GRCm39) |
T2010A |
possibly damaging |
Het |
| Med23 |
C |
T |
10: 24,778,079 (GRCm39) |
T803M |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
| Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
| Nktr |
C |
A |
9: 121,583,392 (GRCm39) |
Y93* |
probably null |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,007,029 (GRCm39) |
E210D |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,007,112 (GRCm39) |
A568E |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
| Or2y1g |
A |
G |
11: 49,171,634 (GRCm39) |
I220V |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,618 (GRCm39) |
T23A |
probably benign |
Het |
| Or5as1 |
T |
A |
2: 86,980,111 (GRCm39) |
K298I |
probably damaging |
Het |
| Pdlim5 |
T |
C |
3: 142,010,076 (GRCm39) |
I289V |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Per1 |
C |
T |
11: 68,994,083 (GRCm39) |
T443M |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,297,956 (GRCm39) |
V1774A |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,329,270 (GRCm39) |
T582A |
probably benign |
Het |
| Psma5 |
A |
G |
3: 108,172,464 (GRCm39) |
E60G |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
T |
C |
13: 11,842,445 (GRCm39) |
N484S |
possibly damaging |
Het |
| Sec31a |
A |
G |
5: 100,541,123 (GRCm39) |
I328T |
possibly damaging |
Het |
| Slc12a2 |
G |
T |
18: 58,052,541 (GRCm39) |
V787L |
probably benign |
Het |
| St14 |
C |
T |
9: 31,018,081 (GRCm39) |
R177Q |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tom1l1 |
G |
T |
11: 90,534,987 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,954,863 (GRCm39) |
R76G |
probably benign |
Het |
| Ube4a |
C |
T |
9: 44,854,056 (GRCm39) |
E581K |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,104 (GRCm39) |
V792A |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,208,819 (GRCm39) |
I430T |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,741,544 (GRCm39) |
K10E |
possibly damaging |
Het |
| Zfp451 |
T |
C |
1: 33,842,537 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Poteg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Poteg
|
APN |
8 |
27,963,648 (GRCm39) |
splice site |
probably benign |
|
|
IGL01964:Poteg
|
APN |
8 |
27,938,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03017:Poteg
|
APN |
8 |
27,952,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
deduction
|
UTSW |
8 |
27,948,683 (GRCm39) |
splice site |
probably null |
|
|
R0034:Poteg
|
UTSW |
8 |
27,952,105 (GRCm39) |
splice site |
probably benign |
|
|
R0069:Poteg
|
UTSW |
8 |
27,937,849 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0069:Poteg
|
UTSW |
8 |
27,937,849 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0522:Poteg
|
UTSW |
8 |
27,939,986 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0634:Poteg
|
UTSW |
8 |
27,963,615 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0971:Poteg
|
UTSW |
8 |
27,937,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1019:Poteg
|
UTSW |
8 |
27,937,852 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1450:Poteg
|
UTSW |
8 |
27,937,871 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1603:Poteg
|
UTSW |
8 |
27,938,033 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
|
R1650:Poteg
|
UTSW |
8 |
27,953,813 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1656:Poteg
|
UTSW |
8 |
27,985,060 (GRCm39) |
intron |
probably benign |
|
|
R1818:Poteg
|
UTSW |
8 |
27,940,195 (GRCm39) |
nonsense |
probably null |
|
|
R2048:Poteg
|
UTSW |
8 |
27,946,774 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2847:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2848:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2849:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4493:Poteg
|
UTSW |
8 |
27,970,125 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4967:Poteg
|
UTSW |
8 |
27,985,009 (GRCm39) |
intron |
probably benign |
|
|
R5051:Poteg
|
UTSW |
8 |
27,943,357 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5149:Poteg
|
UTSW |
8 |
27,971,671 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5579:Poteg
|
UTSW |
8 |
27,938,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Poteg
|
UTSW |
8 |
27,937,996 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5723:Poteg
|
UTSW |
8 |
27,940,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5804:Poteg
|
UTSW |
8 |
27,946,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6685:Poteg
|
UTSW |
8 |
27,937,933 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7044:Poteg
|
UTSW |
8 |
27,939,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Poteg
|
UTSW |
8 |
27,963,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7174:Poteg
|
UTSW |
8 |
27,943,305 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7287:Poteg
|
UTSW |
8 |
27,943,372 (GRCm39) |
missense |
probably null |
0.44 |
|
R7560:Poteg
|
UTSW |
8 |
27,984,988 (GRCm39) |
missense |
probably benign |
|
|
R7604:Poteg
|
UTSW |
8 |
27,948,683 (GRCm39) |
splice site |
probably null |
|
|
R7740:Poteg
|
UTSW |
8 |
27,952,052 (GRCm39) |
splice site |
probably null |
|
|
R7875:Poteg
|
UTSW |
8 |
27,939,942 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7960:Poteg
|
UTSW |
8 |
27,946,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8265:Poteg
|
UTSW |
8 |
27,984,923 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8379:Poteg
|
UTSW |
8 |
27,943,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8414:Poteg
|
UTSW |
8 |
27,938,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8536:Poteg
|
UTSW |
8 |
27,938,048 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8742:Poteg
|
UTSW |
8 |
27,984,957 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8856:Poteg
|
UTSW |
8 |
27,938,033 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
|
R9299:Poteg
|
UTSW |
8 |
27,940,287 (GRCm39) |
missense |
probably benign |
0.35 |
|
X0063:Poteg
|
UTSW |
8 |
27,940,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Poteg
|
UTSW |
8 |
27,937,982 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACCTATTGCTTGCTGGC -3'
(R):5'- CTCAAAGTTCGTGTGTCCGAG -3'
Sequencing Primer
(F):5'- ATCTTGAATTTCATGAGCTGACC -3'
(R):5'- AGTTCGTGTGTCCGAGCTCAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation