Incidental Mutation 'R6988:Chpt1'
ID543091
Institutional Source Beutler Lab
Gene Symbol Chpt1
Ensembl Gene ENSMUSG00000060002
Gene Namecholine phosphotransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.331) question?
Stock #R6988 (G1)
Quality Score225.009
Status Not validated
Chromosome10
Chromosomal Location88452745-88504073 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88488406 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 180 (V180A)
Ref Sequence ENSEMBL: ENSMUSP00000116413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020253] [ENSMUST00000073783] [ENSMUST00000117440] [ENSMUST00000117579] [ENSMUST00000126074] [ENSMUST00000139109]
Predicted Effect probably damaging
Transcript: ENSMUST00000020253
AA Change: V180A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020253
Gene: ENSMUSG00000060002
AA Change: V180A

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 possibly damaging
Transcript: ENSMUST00000073783
AA Change: V180A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073455
Gene: ENSMUSG00000060002
AA Change: V180A

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 59 184 1.7e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117440
AA Change: V180A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002
AA Change: V180A

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 possibly damaging
Transcript: ENSMUST00000117579
AA Change: V180A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113179
Gene: ENSMUSG00000060002
AA Change: V180A

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:CDP-OH_P_transf 59 186 2.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126074
AA Change: V180A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123429
Gene: ENSMUSG00000060002
AA Change: V180A

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: V180A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116413
Gene: ENSMUSG00000060002
AA Change: V180A

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
SMART Domains Protein: ENSMUSP00000117620
Gene: ENSMUSG00000060002
AA Change: V145A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T G 4: 137,454,579 L15W probably damaging Het
4930550C14Rik G A 9: 53,411,756 V31I possibly damaging Het
4932415D10Rik T C 10: 82,291,899 D1759G possibly damaging Het
Adgre1 C T 17: 57,408,445 S255F probably benign Het
Aff4 T G 11: 53,398,237 S404R probably damaging Het
Akr1c19 A T 13: 4,233,758 probably benign Het
Ankrd31 T A 13: 96,878,249 I1342K probably damaging Het
Arhgap5 T A 12: 52,518,125 D626E possibly damaging Het
Arhgef1 G A 7: 24,916,923 V332I probably benign Het
AY358078 A G 14: 51,826,187 E430G probably damaging Het
B4gat1 T A 19: 5,040,434 I395N probably benign Het
Bub1b T A 2: 118,636,830 I878N probably damaging Het
Ccdc150 C T 1: 54,355,709 Q745* probably null Het
Ccl19 A T 4: 42,754,885 I87N probably damaging Het
Ces2g G C 8: 104,963,908 G107A probably benign Het
Col2a1 T C 15: 98,004,454 T14A unknown Het
Dnah7a T C 1: 53,582,625 I1114V possibly damaging Het
Dnah7c T C 1: 46,666,213 I2462T possibly damaging Het
Dnah8 T C 17: 30,643,275 F208S probably damaging Het
Dnhd1 A G 7: 105,714,210 E3993G probably damaging Het
Erv3 C T 2: 131,855,966 D158N possibly damaging Het
Exoc6 T A 19: 37,609,091 F647I probably damaging Het
Fbrs G A 7: 127,479,508 probably benign Het
Fgfr1op2 T C 6: 146,589,965 F109L probably damaging Het
Fv1 T C 4: 147,869,271 F98S possibly damaging Het
Gm436 A G 4: 144,686,325 F15S probably benign Het
H2-M10.1 T C 17: 36,325,592 K107E probably benign Het
Hspg2 A T 4: 137,528,890 Q1436L probably damaging Het
Ighv1-74 T C 12: 115,802,763 Y79C probably damaging Het
Kcnj1 G A 9: 32,396,585 V102I probably benign Het
Mnt C A 11: 74,842,809 probably benign Het
Mrpl15 T C 1: 4,782,660 T112A probably benign Het
Ncdn T C 4: 126,747,189 D506G probably benign Het
Ogdh C T 11: 6,313,806 R81* probably null Het
Olfr791 T A 10: 129,526,673 S149T probably benign Het
Olfr815 G C 10: 129,902,409 F100L probably damaging Het
Pole G T 5: 110,329,583 V1863F probably damaging Het
Pramel5 T C 4: 144,274,007 probably benign Het
Rabep1 A G 11: 70,934,537 K636E probably damaging Het
Rasgrf2 T A 13: 91,885,635 Y1151F probably benign Het
Rrad A G 8: 104,630,636 V93A probably damaging Het
Sesn3 A T 9: 14,310,257 R118* probably null Het
Slc27a3 T C 3: 90,386,290 N596S probably benign Het
Snx19 C A 9: 30,428,935 D456E probably damaging Het
Supt20 T C 3: 54,698,597 S35P probably damaging Het
Syde2 G T 3: 146,019,809 R885L probably benign Het
Synm G A 7: 67,733,658 L1419F probably damaging Het
Tcrg-V6 G T 13: 19,190,644 G40W possibly damaging Het
Tekt2 A G 4: 126,323,443 F221L probably benign Het
Ticam1 C T 17: 56,269,900 E732K probably benign Het
Tmem39b A G 4: 129,693,148 I90T possibly damaging Het
Trib2 A G 12: 15,815,338 S79P probably damaging Het
Usp32 T C 11: 85,010,143 M1084V probably benign Het
Vmn1r181 T C 7: 23,984,847 F246L probably damaging Het
Wnt16 A G 6: 22,288,511 D2G probably damaging Het
Zfp462 A G 4: 55,080,716 E1357G probably benign Het
Zhx3 A G 2: 160,779,868 M793T probably benign Het
Other mutations in Chpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0828:Chpt1 UTSW 10 88476415 missense probably damaging 1.00
R1498:Chpt1 UTSW 10 88477104 missense possibly damaging 0.95
R4271:Chpt1 UTSW 10 88481352 unclassified probably benign
R5411:Chpt1 UTSW 10 88477107 missense probably damaging 1.00
R5839:Chpt1 UTSW 10 88503763 missense probably damaging 1.00
R6135:Chpt1 UTSW 10 88482283 missense possibly damaging 0.46
R6144:Chpt1 UTSW 10 88453093 utr 3 prime probably benign
R6291:Chpt1 UTSW 10 88475444 nonsense probably null
R6591:Chpt1 UTSW 10 88485900 intron probably benign
R6691:Chpt1 UTSW 10 88485900 intron probably benign
R7117:Chpt1 UTSW 10 88480849 missense probably damaging 0.99
R7381:Chpt1 UTSW 10 88475331 splice site probably null
R7472:Chpt1 UTSW 10 88476368 missense probably benign 0.00
R7590:Chpt1 UTSW 10 88480826 missense probably damaging 1.00
R8241:Chpt1 UTSW 10 88453091 missense
Predicted Primers PCR Primer
(F):5'- AAACAGTTGTAGGTTTGGCACTC -3'
(R):5'- CACTAAGTTGTCCACCCATCTG -3'

Sequencing Primer
(F):5'- GCACTCATGGCTATTCTGATAAATC -3'
(R):5'- AAGTTGTCCACCCATCTGTAAATCTG -3'
Posted On2018-11-28