Incidental Mutation 'R8265:Poteg'
| ID |
639680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poteg
|
| Ensembl Gene |
ENSMUSG00000063932 |
| Gene Name |
POTE ankyrin domain family, member G |
| Synonyms |
4921537P18Rik, 4930456F22Rik |
| MMRRC Submission |
067690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R8265 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
27937698-27985200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27984923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 427
(H427Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081321]
[ENSMUST00000209669]
[ENSMUST00000210427]
|
| AlphaFold |
A5H0M4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081321
AA Change: H427Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: H427Q
| 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: H365Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210427
AA Change: H423Q
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
A |
G |
19: 3,766,568 (GRCm39) |
T52A |
probably benign |
Het |
| Adam9 |
T |
C |
8: 25,457,202 (GRCm39) |
Y642C |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,347,315 (GRCm39) |
E47G |
probably benign |
Het |
| Btbd9 |
T |
A |
17: 30,553,278 (GRCm39) |
T395S |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,364 (GRCm39) |
W800* |
probably null |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
G |
A |
7: 19,708,159 (GRCm39) |
V255M |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,126,236 (GRCm39) |
L1610M |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,222,426 (GRCm39) |
T729A |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,735,824 (GRCm39) |
V407E |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,217,603 (GRCm39) |
K1348E |
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,027,977 (GRCm39) |
S302T |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,211,299 (GRCm39) |
E31G |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Herc1 |
C |
T |
9: 66,293,986 (GRCm39) |
Q443* |
probably null |
Het |
| Hmgxb3 |
A |
G |
18: 61,300,410 (GRCm39) |
V222A |
possibly damaging |
Het |
| Hnrnpu |
A |
T |
1: 178,159,725 (GRCm39) |
I452N |
unknown |
Het |
| Ints1 |
C |
G |
5: 139,757,919 (GRCm39) |
D260H |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,383,557 (GRCm39) |
M766K |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,981,200 (GRCm39) |
C1720Y |
probably damaging |
Het |
| Mei1 |
C |
A |
15: 81,987,508 (GRCm39) |
Y433* |
probably null |
Het |
| Milr1 |
A |
G |
11: 106,654,711 (GRCm39) |
K188E |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,734,604 (GRCm39) |
F630S |
probably benign |
Het |
| Myoz2 |
A |
G |
3: 122,800,172 (GRCm39) |
F219L |
probably benign |
Het |
| Nt5c1a |
T |
C |
4: 123,107,953 (GRCm39) |
V212A |
possibly damaging |
Het |
| Or51f1e |
A |
G |
7: 102,747,304 (GRCm39) |
T119A |
probably benign |
Het |
| Or51v14 |
A |
T |
7: 103,261,048 (GRCm39) |
C171S |
possibly damaging |
Het |
| Or8b42 |
T |
C |
9: 38,342,469 (GRCm39) |
V297A |
probably damaging |
Het |
| Pi16 |
A |
G |
17: 29,545,947 (GRCm39) |
T242A |
probably benign |
Het |
| Pigw |
C |
A |
11: 84,770,847 (GRCm39) |
|
probably benign |
Het |
| Pipox |
T |
A |
11: 77,774,793 (GRCm39) |
T97S |
probably benign |
Het |
| Plagl1 |
C |
A |
10: 13,004,625 (GRCm39) |
A631E |
unknown |
Het |
| Prdm14 |
A |
G |
1: 13,184,618 (GRCm39) |
S518P |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,043,423 (GRCm39) |
E441G |
probably benign |
Het |
| Rasal3 |
A |
G |
17: 32,614,794 (GRCm39) |
|
probably null |
Het |
| Rbm33 |
T |
C |
5: 28,599,322 (GRCm39) |
V90A |
|
Het |
| Sidt1 |
C |
A |
16: 44,088,250 (GRCm39) |
R381M |
possibly damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Srsf5 |
A |
G |
12: 80,994,110 (GRCm39) |
D51G |
possibly damaging |
Het |
| Taar8a |
T |
A |
10: 23,952,839 (GRCm39) |
S148T |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,938,426 (GRCm39) |
S149P |
probably damaging |
Het |
| Trafd1 |
T |
A |
5: 121,511,340 (GRCm39) |
I493F |
possibly damaging |
Het |
| Trrap |
C |
T |
5: 144,722,344 (GRCm39) |
S289L |
possibly damaging |
Het |
| Zfp267 |
T |
C |
3: 36,213,677 (GRCm39) |
|
probably benign |
Het |
| Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
probably damaging |
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 |
|
R6911:Poteg
|
UTSW |
8 |
27,940,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- ACATAGTCAGCAGCCAGATGATG -3'
(R):5'- GACAGTATCAGTTTAGCATGTTGC -3'
Sequencing Primer
(F):5'- TCTTCTCAGAAGGCAGCT -3'
(R):5'- GCATGTTGCTAAAATTTGAAATTGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation