Mutagenetix > Incidental Mutation

Incidental Mutation 'R7472:Chpt1'

581314

Institutional Source

Beutler Lab

Gene Symbol

Chpt1

Ensembl Gene

ENSMUSG00000060002

Gene Name

choline phosphotransferase 1

Synonyms

MMRRC Submission

045546-MU

Accession Numbers

Essential gene?

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

Stock #

R7472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88305376-88339855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88312230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 349 (V349I)

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 benign
Transcript: ENSMUST00000020253
AA Change: V349I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020253
Gene: ENSMUSG00000060002
AA Change: V349I

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: V349I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002
AA Change: V349I

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: V108I

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 benign
Transcript: ENSMUST00000139109
AA Change: V349I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116413
Gene: ENSMUSG00000060002
AA Change: V349I

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
AA Change: V25I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120167
Gene: ENSMUSG00000060002
AA Change: V25I

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

Meta Mutation Damage Score

0.0847

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (99/100)

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
4921524J17Rik	G	A	8: 86,159,438 (GRCm39)		probably benign	Het
4932438H23Rik	T	C	16: 90,852,744 (GRCm39)	T131A	probably benign	Het
Acbd6	G	T	1: 155,463,213 (GRCm39)	E138*	probably null	Het
Ago3	A	G	4: 126,239,310 (GRCm39)	V847A	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Als2cl	C	A	9: 110,727,174 (GRCm39)	H913Q	probably benign	Het
Atf6	A	C	1: 170,643,060 (GRCm39)	S360R	possibly damaging	Het
Atm	G	C	9: 53,359,425 (GRCm39)	N2789K	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bpifa6	A	T	2: 153,831,249 (GRCm39)	I272F	possibly damaging	Het
Cabin1	G	T	10: 75,494,481 (GRCm39)	P1633T	probably damaging	Het
Camsap2	A	G	1: 136,209,131 (GRCm39)	V119A	probably damaging	Het
Ccdc40	A	G	11: 119,153,974 (GRCm39)	E1082G	probably benign	Het
Cchcr1	C	A	17: 35,839,248 (GRCm39)	A479D	probably damaging	Het
Cldn13	A	T	5: 134,943,975 (GRCm39)	I70K	probably damaging	Het
Col6a6	T	A	9: 105,659,622 (GRCm39)	D441V	probably damaging	Het
Cpne5	G	T	17: 29,423,714 (GRCm39)	T138K	probably benign	Het
Creb3l3	A	T	10: 80,925,301 (GRCm39)		probably null	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cyp19a1	A	G	9: 54,074,277 (GRCm39)	Y426H	possibly damaging	Het
Cyth4	T	C	15: 78,490,094 (GRCm39)	F72S	probably damaging	Het
D430041D05Rik	G	T	2: 104,240,484 (GRCm39)	Q9K	unknown	Het
Dnah1	T	A	14: 30,983,547 (GRCm39)	I4099F	probably damaging	Het
Dnah1	T	A	14: 31,022,748 (GRCm39)	I1130F	possibly damaging	Het
Dnah12	A	G	14: 26,578,592 (GRCm39)	K3117R	probably benign	Het
Dpf3	A	T	12: 83,319,159 (GRCm39)	S275R	probably benign	Het
Dst	A	G	1: 34,257,578 (GRCm39)	N2450S	probably benign	Het
Dync1h1	C	T	12: 110,632,109 (GRCm39)	R4460W	probably damaging	Het
Ecm1	A	C	3: 95,642,632 (GRCm39)	C414G	possibly damaging	Het
Eef2	G	A	10: 81,015,384 (GRCm39)	D302N	probably benign	Het
Egf	T	C	3: 129,479,912 (GRCm39)	D1038G	possibly damaging	Het
Epm2aip1	T	C	9: 111,101,467 (GRCm39)	S147P	probably damaging	Het
Esam	C	A	9: 37,448,863 (GRCm39)	P324T	possibly damaging	Het
Fbxo36	A	G	1: 84,874,301 (GRCm39)	D99G	probably damaging	Het
Fhad1	G	A	4: 141,691,937 (GRCm39)	R400C	probably benign	Het
Fhip2a	A	G	19: 57,357,017 (GRCm39)	Y36C	probably damaging	Het
Fndc3b	T	C	3: 27,515,893 (GRCm39)	T638A	probably benign	Het
Gba2	T	C	4: 43,568,967 (GRCm39)	T563A	probably benign	Het
Gm8180	T	A	14: 44,021,094 (GRCm39)	N38I	possibly damaging	Het
Hs3st4	A	G	7: 123,996,249 (GRCm39)	E305G	probably damaging	Het
Ireb2	T	A	9: 54,791,338 (GRCm39)	F191I	probably benign	Het
Irx3	T	G	8: 92,526,625 (GRCm39)	T360P	probably benign	Het
Itpr1	T	A	6: 108,380,357 (GRCm39)	I1375N	probably benign	Het
Klrh1	A	T	6: 129,752,345 (GRCm39)	F57I	probably benign	Het
Lama4	A	T	10: 38,963,369 (GRCm39)	I1314F	possibly damaging	Het
Lamb2	C	A	9: 108,363,347 (GRCm39)	A842D	probably benign	Het
Ldlrap1	A	G	4: 134,486,307 (GRCm39)	Y51H	possibly damaging	Het
Leo1	A	G	9: 75,355,623 (GRCm39)	D321G	probably damaging	Het
Lrrc14b	A	G	13: 74,511,226 (GRCm39)	S285P	probably damaging	Het
Macf1	A	G	4: 123,326,860 (GRCm39)	V4881A	probably benign	Het
Mfsd2b	A	T	12: 4,916,481 (GRCm39)	F333I	probably damaging	Het
Micall1	T	C	15: 79,006,760 (GRCm39)	S196P	unknown	Het
Mrps21	T	C	3: 95,770,110 (GRCm39)	N73S	probably benign	Het
Msantd5f5	G	A	4: 73,542,736 (GRCm39)	G79S	probably damaging	Het
Msln	C	T	17: 25,969,708 (GRCm39)	V341M	possibly damaging	Het
Mybpc3	A	T	2: 90,962,001 (GRCm39)	M840L	probably damaging	Het
Myo7a	A	C	7: 97,714,000 (GRCm39)	F1613V	probably damaging	Het
Naprt	C	T	15: 75,763,607 (GRCm39)		probably null	Het
Nbr1	T	C	11: 101,462,765 (GRCm39)	V572A	probably damaging	Het
Nfkbie	A	T	17: 45,870,233 (GRCm39)	T193S	probably damaging	Het
Nlrp14	T	G	7: 106,789,251 (GRCm39)	N672K	probably benign	Het
Or11l3	A	T	11: 58,516,260 (GRCm39)	I204N	probably damaging	Het
Or4b1d	A	G	2: 89,968,668 (GRCm39)	Y272H	probably damaging	Het
Or52ab2	A	G	7: 102,969,656 (GRCm39)	T13A		Het
Or5b101	T	C	19: 13,005,439 (GRCm39)	T85A	probably benign	Het
Or6k14	A	T	1: 173,927,299 (GRCm39)	I92F	probably damaging	Het
Or8b49	A	T	9: 38,506,200 (GRCm39)	I228L	probably benign	Het
Oscar	T	C	7: 3,614,149 (GRCm39)	T197A	possibly damaging	Het
P3h3	C	A	6: 124,827,594 (GRCm39)	A481S	possibly damaging	Het
Pcdh8	T	C	14: 80,008,691 (GRCm39)		probably null	Het
Pcsk9	A	T	4: 106,316,094 (GRCm39)	H116Q	probably benign	Het
Ptcd1	A	G	5: 145,091,540 (GRCm39)	F520L	possibly damaging	Het
Rapgef2	T	C	3: 78,976,580 (GRCm39)	T1261A	probably benign	Het
Ribc2	T	A	15: 85,019,446 (GRCm39)	M76K	probably benign	Het
Sin3b	A	G	8: 73,479,853 (GRCm39)	E853G	probably damaging	Het
Slit2	A	G	5: 48,414,180 (GRCm39)	D940G	probably damaging	Het
Smarcb1	T	A	10: 75,733,373 (GRCm39)	N342Y	probably damaging	Het
Smurf2	A	T	11: 106,726,921 (GRCm39)	I469N	probably damaging	Het
Spata31h1	T	C	10: 82,119,421 (GRCm39)	I4530V	probably benign	Het
Spta1	T	C	1: 174,074,065 (GRCm39)	Y2335H	probably damaging	Het
Suz12	C	T	11: 79,915,801 (GRCm39)	R425C	probably benign	Het
Synpo	G	A	18: 60,762,895 (GRCm39)	A4V	probably benign	Het
Tet1	A	C	10: 62,649,129 (GRCm39)	S157A	possibly damaging	Het
Themis	A	G	10: 28,637,415 (GRCm39)	E173G	possibly damaging	Het
Timmdc1	A	T	16: 38,325,780 (GRCm39)	L197*	probably null	Het
Tmem63c	T	C	12: 87,115,932 (GRCm39)	F191S	possibly damaging	Het
Tnn	G	A	1: 159,937,917 (GRCm39)	T1200I	probably benign	Het
Traf6	A	G	2: 101,527,537 (GRCm39)	H429R	probably benign	Het
Trem3	T	C	17: 48,556,873 (GRCm39)	S115P	probably benign	Het
Trip11	A	T	12: 101,851,639 (GRCm39)	N808K	probably benign	Het
Trub2	A	T	2: 29,673,385 (GRCm39)	V106E	probably damaging	Het
Ugcg	A	G	4: 59,217,156 (GRCm39)	I227V	probably benign	Het
Vat1l	G	A	8: 114,963,539 (GRCm39)		probably null	Het
Vmn1r184	T	C	7: 25,966,824 (GRCm39)	M190T	possibly damaging	Het
Vmn2r3	T	C	3: 64,182,953 (GRCm39)	T249A	probably benign	Het
Zfp729b	A	C	13: 67,742,002 (GRCm39)	S88A	probably benign	Het
Zfp995	T	C	17: 22,099,181 (GRCm39)	Y351C	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
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'- ATGCCTCAGTAGAAAGAGAAGCTC -3'
(R):5'- TTGTGTTCCAAGTAAAACTGGG -3'

Sequencing Primer
(F):5'- TTCATTTCCTGAAGGAGCAGAG -3'
(R):5'- GTCTACACAGTGAGTTCCAGGAC -3'

Posted On

2019-10-17