Incidental Mutation 'R4271:Chpt1'
ID 322177
Institutional Source Beutler Lab
Gene Symbol Chpt1
Ensembl Gene ENSMUSG00000060002
Gene Name choline phosphotransferase 1
Synonyms
MMRRC Submission 041076-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R4271 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 88305376-88339855 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 88317214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020253] [ENSMUST00000117440] [ENSMUST00000117579] [ENSMUST00000126074] [ENSMUST00000139109] [ENSMUST00000148899]
AlphaFold Q8C025
Predicted Effect probably benign
Transcript: ENSMUST00000020253
SMART Domains Protein: ENSMUSP00000020253
Gene: ENSMUSG00000060002

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
SMART Domains Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002

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
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 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 probably benign
Transcript: ENSMUST00000139109
SMART Domains Protein: ENSMUSP00000116413
Gene: ENSMUSG00000060002

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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000148899
SMART Domains Protein: ENSMUSP00000120167
Gene: ENSMUSG00000060002

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A G 2: 103,856,549 (GRCm39) probably benign Het
Acp6 T C 3: 97,073,934 (GRCm39) probably null Het
Actr6 T A 10: 89,553,101 (GRCm39) R252S probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Ash1l T A 3: 88,889,347 (GRCm39) C409S probably benign Het
Aspg T C 12: 112,087,629 (GRCm39) S327P probably damaging Het
B430203G13Rik CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 12: 17,974,358 (GRCm39) noncoding transcript Het
C1galt1 T C 6: 7,866,607 (GRCm39) F151S probably damaging Het
C1qtnf6 G A 15: 78,409,466 (GRCm39) T127I probably benign Het
Ccdc88c G T 12: 100,913,478 (GRCm39) Q516K probably damaging Het
Cdh11 T A 8: 103,391,258 (GRCm39) D326V possibly damaging Het
Cecr2 C T 6: 120,739,436 (GRCm39) H1360Y probably damaging Het
Cfap70 T C 14: 20,470,793 (GRCm39) E484G probably benign Het
Chml G A 1: 175,515,360 (GRCm39) T187M probably benign Het
Cmtr1 T C 17: 29,916,956 (GRCm39) S618P probably benign Het
Cspg4b G T 13: 113,478,904 (GRCm39) V1483L possibly damaging Het
Cyfip1 A T 7: 55,528,849 (GRCm39) M244L probably benign Het
Dock1 T C 7: 134,335,783 (GRCm39) I59T probably damaging Het
Duox1 T C 2: 122,154,856 (GRCm39) F414L probably damaging Het
Gm1110 A T 9: 26,806,944 (GRCm39) probably null Het
Gsap T C 5: 21,431,348 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,510 (GRCm39) Y111C probably damaging Het
Hectd4 AGCGGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGGCGG 5: 121,358,567 (GRCm39) probably benign Het
Kif12 T C 4: 63,088,983 (GRCm39) Q146R probably benign Het
Kif26a C T 12: 112,139,848 (GRCm39) S460F probably damaging Het
Klhl15 AG A X: 93,296,718 (GRCm39) probably null Het
Lims1 T C 10: 58,246,026 (GRCm39) probably null Het
Nbr1 T C 11: 101,458,048 (GRCm39) Y276H possibly damaging Het
Nfe2l3 A G 6: 51,433,614 (GRCm39) D242G probably damaging Het
Oacyl T A 18: 65,871,038 (GRCm39) L340Q probably damaging Het
Or4n4b A T 14: 50,535,908 (GRCm39) I286N probably damaging Het
Or5p80 T A 7: 108,229,560 (GRCm39) Y120* probably null Het
Osbpl5 G T 7: 143,249,339 (GRCm39) Y543* probably null Het
Polr1a G A 6: 71,930,006 (GRCm39) E898K probably benign Het
Pramel51 A T 12: 88,145,053 (GRCm39) I91K probably damaging Het
Rad54l2 G A 9: 106,570,825 (GRCm39) A1165V probably benign Het
Rimbp2 T G 5: 128,896,841 (GRCm39) N23T probably benign Het
Scp2 T C 4: 107,942,408 (GRCm39) D306G probably damaging Het
Slco4a1 A G 2: 180,116,003 (GRCm39) D713G possibly damaging Het
Smarca2 T A 19: 26,698,349 (GRCm39) probably null Het
Spem2 T C 11: 69,708,251 (GRCm39) Y238C probably damaging Het
Srpk2 T A 5: 23,753,513 (GRCm39) H80L possibly damaging Het
Tmem161a T C 8: 70,634,162 (GRCm39) L365P probably damaging Het
Tsnax T C 8: 125,759,468 (GRCm39) L243P probably damaging Het
Ttn A G 2: 76,731,979 (GRCm39) probably benign Het
V1rd19 A G 7: 23,702,839 (GRCm39) T102A probably benign Het
Vmn2r94 T C 17: 18,463,940 (GRCm39) I783M probably damaging Het
Zeb1 C A 18: 5,758,985 (GRCm39) Q148K probably damaging 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
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'- CCCAAGCCTTTATCTGACTTAAAC -3'
(R):5'- AGGGTTTTCAGCAGTAACAAATGG -3'

Sequencing Primer
(F):5'- AGCCTTTATCTGACTTAAACATGTG -3'
(R):5'- GGAAAAATCTCATGCTGTGGTAC -3'
Posted On 2015-06-20