Incidental Mutation 'R2048:Poteg'
ID 222240
Institutional Source Beutler Lab
Gene Symbol Poteg
Ensembl Gene ENSMUSG00000063932
Gene Name POTE ankyrin domain family, member G
Synonyms 4921537P18Rik, 4930456F22Rik
MMRRC Submission 040055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R2048 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 27937698-27985200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27946774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 159 (I159L)
Ref Sequence ENSEMBL: ENSMUSP00000147714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081321] [ENSMUST00000209669] [ENSMUST00000210427]
AlphaFold A5H0M4
Predicted Effect probably benign
Transcript: ENSMUST00000081321
AA Change: I221L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: I221L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000209669
AA Change: I159L

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000210427
AA Change: I217L

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211657
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A G 9: 70,647,357 (GRCm39) D19G possibly damaging Het
Adhfe1 A G 1: 9,633,778 (GRCm39) K342R probably benign Het
Adk A G 14: 21,368,244 (GRCm39) N223S probably damaging Het
Aff4 A G 11: 53,289,212 (GRCm39) S454G probably benign Het
Ahnak T A 19: 8,984,420 (GRCm39) N1901K probably damaging Het
Camsap1 T C 2: 25,819,755 (GRCm39) T1578A probably benign Het
Ccdc63 A C 5: 122,268,350 (GRCm39) probably null Het
Ceacam1 G T 7: 25,176,113 (GRCm39) S27Y probably benign Het
Cit T C 5: 116,024,872 (GRCm39) probably null Het
Cntn4 A G 6: 106,414,825 (GRCm39) probably benign Het
Cyp2d26 A G 15: 82,676,928 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,908,237 (GRCm39) V204E probably damaging Het
Cyp51 G A 5: 4,136,636 (GRCm39) probably benign Het
Dipk1a T C 5: 108,057,886 (GRCm39) D179G probably damaging Het
Epb41l4b T G 4: 57,142,866 (GRCm39) E96D probably benign Het
Epg5 A G 18: 78,067,202 (GRCm39) E2221G probably damaging Het
Fbxo21 T A 5: 118,146,169 (GRCm39) N597K probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fsip1 C A 2: 118,072,197 (GRCm39) E195D probably damaging Het
Gm10152 T C 7: 144,317,049 (GRCm39) F35L unknown Het
Gtpbp6 A C 5: 110,254,931 (GRCm39) V87G probably damaging Het
Hal A G 10: 93,327,002 (GRCm39) T176A probably damaging Het
Il12rb2 G T 6: 67,337,529 (GRCm39) N117K probably benign Het
Kalrn A G 16: 34,072,680 (GRCm39) V734A probably benign Het
Klf7 A G 1: 64,117,913 (GRCm39) V228A possibly damaging Het
Kng1 A G 16: 22,877,354 (GRCm39) Y54C probably damaging Het
Lpcat2 T G 8: 93,596,471 (GRCm39) N169K possibly damaging Het
Magohb A T 6: 131,266,385 (GRCm39) S40R probably damaging Het
Mgam A G 6: 40,633,363 (GRCm39) D186G possibly damaging Het
Mycbp2 A G 14: 103,469,960 (GRCm39) probably null Het
Myh15 A G 16: 48,975,928 (GRCm39) D1332G probably damaging Het
Myh9 G A 15: 77,655,332 (GRCm39) T1208M possibly damaging Het
Ncor2 C T 5: 125,161,996 (GRCm39) R426H unknown Het
Nradd T C 9: 110,450,697 (GRCm39) E160G probably benign Het
Or10u4 G A 10: 129,801,861 (GRCm39) S230L probably damaging Het
Or2a54 T A 6: 43,093,312 (GRCm39) M212K probably benign Het
Otog A T 7: 45,937,063 (GRCm39) T1591S probably damaging Het
Oxsr1 A G 9: 119,076,140 (GRCm39) S389P probably benign Het
Pde3a A G 6: 141,434,732 (GRCm39) probably benign Het
Pi4k2b A T 5: 52,905,773 (GRCm39) I105L probably benign Het
Pilrb1 T C 5: 137,853,153 (GRCm39) R217G possibly damaging Het
Ppargc1a A G 5: 51,705,858 (GRCm39) F75S probably damaging Het
Ptk2b T G 14: 66,409,954 (GRCm39) D466A probably benign Het
Ptpn21 A G 12: 98,655,785 (GRCm39) V394A possibly damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shisa3 G A 5: 67,768,651 (GRCm39) E184K possibly damaging Het
Slc4a2 A G 5: 24,636,557 (GRCm39) H283R probably damaging Het
Slc9a3 A G 13: 74,311,860 (GRCm39) S603G probably damaging Het
Tas2r124 A G 6: 132,731,858 (GRCm39) I56V possibly damaging Het
Tbcd G T 11: 121,431,762 (GRCm39) C470F probably damaging Het
Thsd1 A G 8: 22,749,333 (GRCm39) R674G probably benign Het
Zbtb11 T A 16: 55,818,372 (GRCm39) C599S probably damaging Het
Zfp541 A G 7: 15,812,252 (GRCm39) R302G possibly damaging Het
Other mutations in Poteg
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAATTGTGGTCCCACGATG -3'
(R):5'- ACTGCCATTCTGAAACTGCC -3'

Sequencing Primer
(F):5'- CCACGATGCTACGTCTGTTAGTAAAC -3'
(R):5'- TTCTGAAACTGCCTGCACAG -3'
Posted On 2014-08-25