Incidental Mutation 'R6135:Chpt1'
ID 488296
Institutional Source Beutler Lab
Gene Symbol Chpt1
Ensembl Gene ENSMUSG00000060002
Gene Name choline phosphotransferase 1
Synonyms
MMRRC Submission 044282-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R6135 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 88305376-88339855 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88318145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 199 (V199E)
Ref Sequence ENSEMBL: ENSMUSP00000116413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020253] [ENSMUST00000073783] [ENSMUST00000117440] [ENSMUST00000117579] [ENSMUST00000126074] [ENSMUST00000139109]
AlphaFold Q8C025
Predicted Effect possibly damaging
Transcript: ENSMUST00000020253
AA Change: V199E

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020253
Gene: ENSMUSG00000060002
AA Change: V199E

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: ENSMUST00000073783
SMART Domains Protein: ENSMUSP00000073455
Gene: ENSMUSG00000060002

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 59 184 1.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117440
AA Change: V199E

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002
AA Change: V199E

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: ENSMUST00000117579
SMART Domains Protein: ENSMUSP00000113179
Gene: ENSMUSG00000060002

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 59 186 2.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126074
AA Change: V199E

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000123429
Gene: ENSMUSG00000060002
AA Change: V199E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 59 206 1.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134318
SMART Domains Protein: ENSMUSP00000122428
Gene: ENSMUSG00000060002

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 unknown
Transcript: ENSMUST00000143108
AA Change: V164E
SMART Domains Protein: ENSMUSP00000117620
Gene: ENSMUSG00000060002
AA Change: V164E

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000139109
AA Change: V199E

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116413
Gene: ENSMUSG00000060002
AA Change: V199E

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
Meta Mutation Damage Score 0.7281 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,402,335 (GRCm39) E95G probably damaging Het
Abca4 C T 3: 121,932,096 (GRCm39) T250I possibly damaging Het
Ahi1 G A 10: 20,845,020 (GRCm39) R375H probably benign Het
Aimp1 T C 3: 132,377,844 (GRCm39) K174E probably benign Het
Aire A G 10: 77,878,801 (GRCm39) L82P probably damaging Het
Akap13 T A 7: 75,259,656 (GRCm39) V760D possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Carf C T 1: 60,187,122 (GRCm39) S540F probably damaging Het
Ccdc171 T A 4: 83,473,087 (GRCm39) M172K probably benign Het
Cldn16 G A 16: 26,293,018 (GRCm39) D65N possibly damaging Het
Cnga3 G A 1: 37,271,318 (GRCm39) probably benign Het
Col14a1 A G 15: 55,244,246 (GRCm39) T440A unknown Het
Creb3l3 A G 10: 80,921,552 (GRCm39) I331T probably benign Het
Cul9 T C 17: 46,832,379 (GRCm39) T1410A probably benign Het
Dnm1 T A 2: 32,223,075 (GRCm39) probably null Het
Fhl5 A T 4: 25,214,716 (GRCm39) Y20* probably null Het
Fignl1 T C 11: 11,752,557 (GRCm39) D166G probably benign Het
Ghr T C 15: 3,355,447 (GRCm39) I279V probably benign Het
Gm1979 T G 5: 26,205,298 (GRCm39) S180R probably damaging Het
Hydin T C 8: 111,189,292 (GRCm39) V1232A possibly damaging Het
Ifnar1 A G 16: 91,298,508 (GRCm39) probably null Het
Inpp5d A G 1: 87,548,119 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnh2 T A 5: 24,526,791 (GRCm39) S1002C probably damaging Het
Krt87 T A 15: 101,385,415 (GRCm39) E319V probably damaging Het
Lbp A G 2: 158,159,469 (GRCm39) I201V probably benign Het
Man1a2 G A 3: 100,592,248 (GRCm39) probably benign Het
Myh8 A G 11: 67,188,326 (GRCm39) T996A possibly damaging Het
Nat10 A G 2: 103,573,661 (GRCm39) L319P probably damaging Het
Nelfa A G 5: 34,056,620 (GRCm39) probably null Het
Or5b97 A C 19: 12,878,803 (GRCm39) Y114D probably damaging Het
Pcdha11 T A 18: 37,138,870 (GRCm39) N166K probably damaging Het
Pcdha6 C A 18: 37,102,269 (GRCm39) N487K probably damaging Het
Pcsk2 A G 2: 143,415,460 (GRCm39) D91G possibly damaging Het
Pigp A G 16: 94,171,065 (GRCm39) F22L probably benign Het
Pnpla8 A C 12: 44,329,670 (GRCm39) N74T probably benign Het
Ppargc1b T C 18: 61,448,980 (GRCm39) K114R probably damaging Het
Ppfia2 A G 10: 106,693,430 (GRCm39) D645G probably damaging Het
Rnf213 G A 11: 119,332,854 (GRCm39) V2688I probably benign Het
Rnf43 A G 11: 87,622,951 (GRCm39) H557R probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Rrp9 G A 9: 106,360,221 (GRCm39) D210N probably damaging Het
Scin G T 12: 40,129,807 (GRCm39) Q329K possibly damaging Het
Scn7a T A 2: 66,534,244 (GRCm39) H477L probably benign Het
Slc26a8 A T 17: 28,888,914 (GRCm39) M195K probably benign Het
Spata13 A G 14: 60,993,877 (GRCm39) K1110E probably damaging Het
Spata24 T A 18: 35,793,503 (GRCm39) E103V probably damaging Het
Srek1 T C 13: 103,910,894 (GRCm39) N25S probably damaging Het
Strada T C 11: 106,064,140 (GRCm39) Y59C probably damaging Het
Tnrc6c T C 11: 117,626,831 (GRCm39) W1143R probably damaging Het
Trip12 A T 1: 84,738,559 (GRCm39) D765E probably benign Het
Ttbk2 G A 2: 120,580,798 (GRCm39) R444C probably damaging Het
Ush2a T A 1: 188,644,303 (GRCm39) I4555N possibly damaging Het
Vcan C T 13: 89,838,045 (GRCm39) E2500K probably benign Het
Vps16 A G 2: 130,280,573 (GRCm39) Y200C possibly damaging Het
Wdfy4 T A 14: 32,693,668 (GRCm39) H2719L probably damaging Het
Zfhx2 T C 14: 55,311,653 (GRCm39) D347G possibly damaging Het
Zfp653 G A 9: 21,969,558 (GRCm39) T236I probably damaging Het
Zscan4-ps1 A T 7: 10,799,913 (GRCm39) H325Q probably benign Het
Other mutations in Chpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0828:Chpt1 UTSW 10 88,312,277 (GRCm39) missense probably damaging 1.00
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
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'- TGCATTGAGGCAGAGGATATTTAG -3'
(R):5'- CAGTCAGCTGATACAGAATTCAG -3'

Sequencing Primer
(F):5'- AAAATAGGGAGATTTTCTTCTACGC -3'
(R):5'- TCAGCTGATACAGAATTCAGTGAGG -3'
Posted On 2017-10-10