Incidental Mutation 'R0828:Chpt1'
ID 78392
Institutional Source Beutler Lab
Gene Symbol Chpt1
Ensembl Gene ENSMUSG00000060002
Gene Name choline phosphotransferase 1
Synonyms
MMRRC Submission 039008-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R0828 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 88305376-88339855 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88312277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 9 (G9V)
Ref Sequence ENSEMBL: ENSMUSP00000120167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020252] [ENSMUST00000020253] [ENSMUST00000117440] [ENSMUST00000123244] [ENSMUST00000125612] [ENSMUST00000126074] [ENSMUST00000139109] [ENSMUST00000148899]
AlphaFold Q8C025
Predicted Effect probably benign
Transcript: ENSMUST00000020252
SMART Domains Protein: ENSMUSP00000020252
Gene: ENSMUSG00000020059

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Pfam:Cor1 101 229 6.1e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000020253
AA Change: G333V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020253
Gene: ENSMUSG00000060002
AA Change: G333V

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 59 183 1e-24 PFAM
transmembrane domain 191 213 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 263 282 N/A INTRINSIC
transmembrane domain 295 317 N/A INTRINSIC
transmembrane domain 349 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117440
AA Change: G333V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002
AA Change: G333V

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 61 136 8.8e-18 PFAM
transmembrane domain 159 181 N/A INTRINSIC
transmembrane domain 191 213 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 263 282 N/A INTRINSIC
transmembrane domain 295 317 N/A INTRINSIC
transmembrane domain 349 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123244
SMART Domains Protein: ENSMUSP00000137704
Gene: ENSMUSG00000020059

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125612
SMART Domains Protein: ENSMUSP00000137800
Gene: ENSMUSG00000020059

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Pfam:Cor1 100 229 7.6e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126074
SMART Domains Protein: ENSMUSP00000123429
Gene: ENSMUSG00000060002

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 59 206 1.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139109
AA Change: G333V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116413
Gene: ENSMUSG00000060002
AA Change: G333V

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 59 183 1e-24 PFAM
transmembrane domain 191 213 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 263 282 N/A INTRINSIC
transmembrane domain 295 317 N/A INTRINSIC
transmembrane domain 349 371 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000148899
AA Change: G9V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120167
Gene: ENSMUSG00000060002
AA Change: G9V

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000134318
AA Change: G92V
SMART Domains Protein: ENSMUSP00000122428
Gene: ENSMUSG00000060002
AA Change: G92V

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143108
SMART Domains Protein: ENSMUSP00000117620
Gene: ENSMUSG00000060002

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 27 102 1.9e-18 PFAM
transmembrane domain 125 147 N/A INTRINSIC
transmembrane domain 157 179 N/A INTRINSIC
Meta Mutation Damage Score 0.1521 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik C T 11: 25,602,020 (GRCm39) C70Y unknown Het
Abi3bp C T 16: 56,498,193 (GRCm39) T929I probably damaging Het
Adap2 C A 11: 80,056,490 (GRCm39) probably benign Het
Adgrg5 A G 8: 95,668,413 (GRCm39) probably null Het
Afdn C A 17: 14,124,260 (GRCm39) N1803K probably damaging Het
Alox12b T C 11: 69,057,132 (GRCm39) L451P possibly damaging Het
Ankrd26 T C 6: 118,510,434 (GRCm39) probably benign Het
Bcr A T 10: 74,993,039 (GRCm39) probably benign Het
Cacna1c T C 6: 118,734,347 (GRCm39) N300D probably benign Het
Camsap1 G T 2: 25,829,097 (GRCm39) Q876K probably damaging Het
Cdh10 A G 15: 18,986,837 (GRCm39) D356G possibly damaging Het
Cdipt T A 7: 126,576,092 (GRCm39) Y16N probably damaging Het
Cebpz T C 17: 79,233,411 (GRCm39) E772G probably benign Het
Cep350 A G 1: 155,828,992 (GRCm39) I304T probably benign Het
Col6a5 T A 9: 105,739,263 (GRCm39) probably null Het
Dock7 G T 4: 98,903,982 (GRCm39) P688T probably damaging Het
Ephb3 T A 16: 21,037,784 (GRCm39) probably benign Het
Fcgr2b T C 1: 170,788,599 (GRCm39) Y336C probably damaging Het
Flg2 A T 3: 93,110,639 (GRCm39) H889L unknown Het
Gucy2c C T 6: 136,686,746 (GRCm39) V806M probably damaging Het
Hmgxb3 T A 18: 61,304,426 (GRCm39) I55F probably damaging Het
Igsf9b T A 9: 27,230,901 (GRCm39) Y301* probably null Het
Il12rb2 C T 6: 67,333,691 (GRCm39) R196H probably benign Het
Itgam T C 7: 127,715,677 (GRCm39) probably null Het
Klhl25 T C 7: 75,515,943 (GRCm39) V283A probably damaging Het
Klhl5 T C 5: 65,320,135 (GRCm39) L423P probably damaging Het
Krt6a T C 15: 101,602,271 (GRCm39) N138S probably damaging Het
Lrba A T 3: 86,515,677 (GRCm39) probably null Het
Map4k5 T C 12: 69,852,100 (GRCm39) T828A probably damaging Het
Marchf8 T A 6: 116,382,639 (GRCm39) M434K probably benign Het
Mink1 C T 11: 70,500,971 (GRCm39) Q743* probably null Het
Mrgpra3 T C 7: 47,239,884 (GRCm39) N14S probably benign Het
Mroh7 T C 4: 106,557,073 (GRCm39) S808G probably damaging Het
Msi1 T C 5: 115,568,953 (GRCm39) probably null Het
Nrap A G 19: 56,333,990 (GRCm39) Y874H probably damaging Het
Nup205 T C 6: 35,171,501 (GRCm39) F455L probably benign Het
Or2t1 G T 14: 14,328,800 (GRCm38) V230L probably benign Het
Piwil2 A G 14: 70,613,466 (GRCm39) V894A probably damaging Het
Polr1c A G 17: 46,555,990 (GRCm39) S173P probably damaging Het
Pphln1-ps1 A G 16: 13,495,669 (GRCm39) Y256C probably damaging Het
Prep C T 10: 45,031,621 (GRCm39) A564V probably benign Het
Rab3gap1 T C 1: 127,865,922 (GRCm39) probably benign Het
Rcc1 G C 4: 132,063,136 (GRCm39) probably benign Het
Scn11a T A 9: 119,584,073 (GRCm39) D1514V probably benign Het
Setdb1 G A 3: 95,246,171 (GRCm39) P584S probably damaging Het
Slc12a7 A G 13: 73,936,771 (GRCm39) I144V probably benign Het
Slc45a4 T C 15: 73,458,665 (GRCm39) M295V probably benign Het
Slco1a1 T A 6: 141,867,565 (GRCm39) D456V possibly damaging Het
Sspo G T 6: 48,475,668 (GRCm39) C4928F probably damaging Het
St6galnac1 T A 11: 116,659,823 (GRCm39) K163N probably benign Het
Tcp11l1 A T 2: 104,530,181 (GRCm39) probably benign Het
Tns1 T A 1: 73,958,825 (GRCm39) I1715F probably damaging Het
Trpa1 C T 1: 14,946,108 (GRCm39) V1008M probably damaging Het
Ttc28 A G 5: 111,371,312 (GRCm39) E587G probably damaging Het
Ubr4 T C 4: 139,177,864 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp8 G A 2: 126,584,034 (GRCm39) probably benign Het
Zfc3h1 G T 10: 115,237,612 (GRCm39) A464S possibly damaging Het
Zfp106 T C 2: 120,366,084 (GRCm39) I108V probably benign Het
Other mutations in Chpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1498:Chpt1 UTSW 10 88,312,966 (GRCm39) missense possibly damaging 0.95
R4271:Chpt1 UTSW 10 88,317,214 (GRCm39) unclassified probably benign
R5411:Chpt1 UTSW 10 88,312,969 (GRCm39) missense probably damaging 1.00
R5839:Chpt1 UTSW 10 88,339,625 (GRCm39) missense probably damaging 1.00
R6135:Chpt1 UTSW 10 88,318,145 (GRCm39) missense possibly damaging 0.46
R6144:Chpt1 UTSW 10 88,288,955 (GRCm39) utr 3 prime probably benign
R6291:Chpt1 UTSW 10 88,311,306 (GRCm39) nonsense probably null
R6591:Chpt1 UTSW 10 88,321,762 (GRCm39) intron probably benign
R6691:Chpt1 UTSW 10 88,321,762 (GRCm39) intron probably benign
R6988:Chpt1 UTSW 10 88,324,268 (GRCm39) missense probably damaging 1.00
R7117:Chpt1 UTSW 10 88,316,711 (GRCm39) missense probably damaging 0.99
R7381:Chpt1 UTSW 10 88,311,193 (GRCm39) splice site probably null
R7472:Chpt1 UTSW 10 88,312,230 (GRCm39) missense probably benign 0.00
R7590:Chpt1 UTSW 10 88,316,688 (GRCm39) missense probably damaging 1.00
R8241:Chpt1 UTSW 10 88,288,953 (GRCm39) missense
R8822:Chpt1 UTSW 10 88,324,268 (GRCm39) missense probably damaging 1.00
R9003:Chpt1 UTSW 10 88,312,943 (GRCm39) missense probably damaging 0.99
R9572:Chpt1 UTSW 10 88,316,806 (GRCm39) missense probably damaging 1.00
R9652:Chpt1 UTSW 10 88,325,499 (GRCm39) missense probably benign 0.13
R9716:Chpt1 UTSW 10 88,339,446 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCCTCAGTAGAAAGAGAAGCTCACCAA -3'
(R):5'- AGTCTTTCAACCACAAATCTGGGAACA -3'

Sequencing Primer
(F):5'- gggcagtagaaaatggactcac -3'
(R):5'- gaggcagaggcaggtgg -3'
Posted On 2013-10-16