Mutagenetix > Incidental Mutation

Incidental Mutation 'R9003:Chpt1'

685101

Institutional Source

Beutler Lab

Gene Symbol

Chpt1

Ensembl Gene

ENSMUSG00000060002

Gene Name

choline phosphotransferase 1

Synonyms

MMRRC Submission

068833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R9003 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88305376-88339855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88312943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 290 (F290L)

Ref Sequence

ENSEMBL: ENSMUSP00000020253 (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

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
Pfam:Cor1	101	229	6.1e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000020253
AA Change: F290L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020253
Gene: ENSMUSG00000060002
AA Change: F290L

Domain	Start	End	E-Value	Type
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: F290L

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002
AA Change: F290L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125612

SMART Domains

Protein: ENSMUSP00000137800
Gene: ENSMUSG00000020059

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:CDP-OH_P_transf	59	206	1.7e-24	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122428
Gene: ENSMUSG00000060002
AA Change: F49L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139109
AA Change: F290L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116413
Gene: ENSMUSG00000060002
AA Change: F290L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Meta Mutation Damage Score

0.3759

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,850,013 (GRCm39)	H917Y	possibly damaging	Het
Acot4	A	G	12: 84,089,969 (GRCm39)	K222R	possibly damaging	Het
Akap12	A	G	10: 4,306,744 (GRCm39)	S1290G	probably benign	Het
Arid1a	T	C	4: 133,411,799 (GRCm39)	I1311V	unknown	Het
Asf1b	G	T	8: 84,682,530 (GRCm39)	E25*	probably null	Het
Atp10a	T	A	7: 58,457,203 (GRCm39)	W901R	probably damaging	Het
Aurkc	T	A	7: 6,999,547 (GRCm39)	I18N	probably damaging	Het
Carmil2	A	G	8: 106,423,905 (GRCm39)	T1253A	probably damaging	Het
Ccdc146	T	C	5: 21,508,132 (GRCm39)	T639A	possibly damaging	Het
Cdca4	A	G	12: 112,785,659 (GRCm39)	V23A	probably benign	Het
Clca3b	C	T	3: 144,533,072 (GRCm39)	W653*	probably null	Het
Coa8	A	G	12: 111,688,189 (GRCm39)	*45W	probably null	Het
Cpb2	A	T	14: 75,479,868 (GRCm39)		probably benign	Het
Cul9	A	G	17: 46,836,001 (GRCm39)	V1215A	possibly damaging	Het
Cxxc4	A	T	3: 133,945,431 (GRCm39)	N4I	unknown	Het
Eps8l1	G	T	7: 4,464,016 (GRCm39)	V47F	possibly damaging	Het
Exoc6	T	C	19: 37,587,097 (GRCm39)	I537T	probably damaging	Het
Fbn2	T	C	18: 58,176,591 (GRCm39)	Y2040C	probably damaging	Het
Gfm2	T	G	13: 97,282,889 (GRCm39)		probably benign	Het
Jak2	A	T	19: 29,254,240 (GRCm39)	M187L	probably benign	Het
Kif5b	A	G	18: 6,224,047 (GRCm39)	V247A	probably benign	Het
Klhl22	T	C	16: 17,589,612 (GRCm39)	V91A	probably damaging	Het
Ldhd	T	C	8: 112,356,894 (GRCm39)	S17G	probably benign	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mecom	T	C	3: 30,034,639 (GRCm39)	I346V	probably benign	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek4	C	T	14: 30,704,471 (GRCm39)	T662M	probably benign	Het
Or10g3b	T	A	14: 52,586,768 (GRCm39)	H245L	probably damaging	Het
Or2y1b	C	T	11: 49,209,155 (GRCm39)	P261S	possibly damaging	Het
Or4c117	T	A	2: 88,956,024 (GRCm39)	Q17L	possibly damaging	Het
Or4k42	A	G	2: 111,320,411 (GRCm39)	F31L	probably benign	Het
Or5ac19	A	T	16: 59,089,263 (GRCm39)	F256I	probably benign	Het
Or8c18	C	T	9: 38,203,343 (GRCm39)	T34I	probably benign	Het
Phc3	G	A	3: 31,020,007 (GRCm39)	T19I	possibly damaging	Het
Pla2g4e	T	A	2: 120,007,282 (GRCm39)	Q472L	probably benign	Het
Plcg2	C	T	8: 118,342,002 (GRCm39)	T1121I		Het
Plin2	T	C	4: 86,580,324 (GRCm39)	T146A	probably benign	Het
Pum1	T	G	4: 130,474,393 (GRCm39)	S488A	probably benign	Het
Robo1	A	G	16: 72,539,002 (GRCm39)		probably benign	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Sbno2	A	T	10: 79,896,049 (GRCm39)	V939E	probably damaging	Het
Scarf1	A	T	11: 75,406,069 (GRCm39)	T118S	possibly damaging	Het
Sdcbp2	G	A	2: 151,429,113 (GRCm39)	V171M	probably benign	Het
Sh3pxd2b	T	C	11: 32,361,571 (GRCm39)	I261T	probably damaging	Het
Slc4a9	A	G	18: 36,673,787 (GRCm39)		probably null	Het
Smpdl3a	A	G	10: 57,683,977 (GRCm39)	Y245C	probably damaging	Het
Stk39	T	C	2: 68,222,462 (GRCm39)	I201V	probably damaging	Het
Timm44	A	G	8: 4,324,204 (GRCm39)	L25P	possibly damaging	Het
Tinf2	T	C	14: 55,917,859 (GRCm39)	H210R	probably benign	Het
Tmem168	A	T	6: 13,591,446 (GRCm39)	Y457N	probably benign	Het
Topbp1	T	C	9: 103,200,727 (GRCm39)	S587P	probably benign	Het
Tpp1	T	A	7: 105,398,156 (GRCm39)	I336F	probably benign	Het
Ttc28	G	A	5: 111,424,896 (GRCm39)	V1574I	probably benign	Het
Tut4	A	G	4: 108,400,029 (GRCm39)	K1277E	probably damaging	Het
Vmn2r52	A	T	7: 9,905,181 (GRCm39)	D219E	probably benign	Het
Zbtb40	G	T	4: 136,745,904 (GRCm39)	A43E	probably damaging	Het
Zfp970	G	A	2: 177,167,010 (GRCm39)	A195T	probably damaging	Het

Other mutations in Chpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGCTGCTGACACCATAATGG -3'
(R):5'- AACACATTCTGGTAATTTGCTGGG -3'

Sequencing Primer
(F):5'- TGCTGCTGACACCATAATGGAAAAC -3'
(R):5'- TGTATTCACAGGTCTTACACATTTAC -3'

Posted On

2021-10-11