Incidental Mutation 'R0069:Poteg'
ID 33104
Institutional Source Beutler Lab
Gene Symbol Poteg
Ensembl Gene ENSMUSG00000063932
Gene Name POTE ankyrin domain family, member G
Synonyms 4921537P18Rik, 4930456F22Rik
MMRRC Submission 038360-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R0069 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 27937698-27985200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27937849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 2 (S2P)
Ref Sequence ENSEMBL: ENSMUSP00000080069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081321] [ENSMUST00000209669] [ENSMUST00000210427]
AlphaFold A5H0M4
Predicted Effect probably benign
Transcript: ENSMUST00000081321
AA Change: S2P

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: S2P

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
Predicted Effect probably benign
Transcript: ENSMUST00000210427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211657
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Antxr2 T A 5: 98,096,109 (GRCm39) M392L possibly damaging Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Clec2g T C 6: 128,957,274 (GRCm39) probably null Het
Clec2g T A 6: 128,925,716 (GRCm39) S42T probably benign Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
D2hgdh G T 1: 93,763,009 (GRCm39) V265L possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Fam168a C T 7: 100,484,618 (GRCm39) A252V probably benign Het
Fbn2 T C 18: 58,202,256 (GRCm39) Y1299C probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Hk2 A G 6: 82,713,509 (GRCm39) probably null Het
Ifi206 A T 1: 173,314,413 (GRCm39) V9D probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Map1b A G 13: 99,566,356 (GRCm39) S2122P unknown Het
Mei4 C T 9: 81,907,635 (GRCm39) Q223* probably null Het
Mpzl3 T C 9: 44,979,550 (GRCm39) V167A probably damaging Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Myom2 A G 8: 15,167,624 (GRCm39) T1070A probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Nfx1 T C 4: 40,986,688 (GRCm39) probably benign Het
Or10ak12 A T 4: 118,666,887 (GRCm39) V58D probably damaging Het
Or8g33 A G 9: 39,338,188 (GRCm39) Y60H probably damaging Het
Ostm1 A C 10: 42,568,952 (GRCm39) D37A probably benign Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Prkdc G A 16: 15,544,368 (GRCm39) S1786N probably benign Het
Prox1 A G 1: 189,893,116 (GRCm39) V443A possibly damaging Het
Prpf6 T A 2: 181,257,756 (GRCm39) probably null Het
Ptger1 A T 8: 84,394,948 (GRCm39) T142S possibly damaging Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Rnpepl1 T A 1: 92,846,620 (GRCm39) N507K possibly damaging Het
Slc38a10 A T 11: 119,997,328 (GRCm39) V722E probably damaging Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sult1e1 A T 5: 87,727,756 (GRCm39) H175Q probably damaging Het
Ube2e3 C A 2: 78,750,293 (GRCm39) probably benign Het
Vmn1r208 A T 13: 22,956,595 (GRCm39) W301R probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript 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
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
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'- TCAGCACCTTTACCCATAGCCTCAG -3'
(R):5'- AGCAGCAACCCTGTGAATATGCCC -3'

Sequencing Primer
(F):5'- TTTACCCATAGCCTCAGAGATG -3'
(R):5'- TGAATATGCCCCAACGGTCTG -3'
Posted On 2013-05-09