Mutagenetix > Incidental Mutation

Incidental Mutation 'R8241:Chpt1'

637560

Institutional Source

Beutler Lab

Gene Symbol

Chpt1

Ensembl Gene

ENSMUSG00000060002

Gene Name

choline phosphotransferase 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R8241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88305376-88339855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88288953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 154 (K154E)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148899]

AlphaFold

Q8C025

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122428
Gene: ENSMUSG00000060002
AA Change: K154E

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: ENSMUST00000148899

SMART Domains

Protein: ENSMUSP00000120167
Gene: ENSMUSG00000060002

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,079,456 (GRCm39)	R1233G	probably null	Het
Acacb	A	T	5: 114,333,297 (GRCm39)	I474F	possibly damaging	Het
Adora1	A	T	1: 134,131,062 (GRCm39)	V203D	probably damaging	Het
Aff4	A	G	11: 53,290,998 (GRCm39)	S653G	probably benign	Het
Agtr1a	T	C	13: 30,565,082 (GRCm39)	V49A	probably damaging	Het
Ahnak	T	C	19: 8,984,659 (GRCm39)	V1981A	probably benign	Het
Arhgap5	T	G	12: 52,565,098 (GRCm39)	Y690D	probably benign	Het
Bbs9	A	G	9: 22,590,214 (GRCm39)	I651V	probably benign	Het
Brms1	C	T	19: 5,096,007 (GRCm39)	A27V	probably benign	Het
Camta1	A	G	4: 151,168,282 (GRCm39)	V256A	probably benign	Het
Capg	G	T	6: 72,533,236 (GRCm39)		probably null	Het
Cyp1b1	T	C	17: 80,021,223 (GRCm39)	E173G	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw27	T	G	9: 109,602,283 (GRCm39)	N230T	possibly damaging	Het
Fer1l4	T	C	2: 155,891,585 (GRCm39)	T126A	probably benign	Het
Fut10	C	A	8: 31,750,034 (GRCm39)	S440*	probably null	Het
Gbf1	T	C	19: 46,234,576 (GRCm39)	V71A	probably damaging	Het
Gpatch8	T	C	11: 102,378,347 (GRCm39)	E201G	unknown	Het
Hic2	A	G	16: 17,076,950 (GRCm39)	Y593C	probably damaging	Het
Hlcs	A	T	16: 94,068,677 (GRCm39)	V181E	probably damaging	Het
Itpr2	A	T	6: 146,320,013 (GRCm39)	I176N	possibly damaging	Het
Kcna2	G	T	3: 107,012,338 (GRCm39)	K306N	probably damaging	Het
Kcnb1	A	G	2: 166,948,117 (GRCm39)	Y244H	probably damaging	Het
Klhl8	C	T	5: 104,015,392 (GRCm39)	V511I	probably damaging	Het
Mapk14	T	A	17: 28,934,374 (GRCm39)	D88E	possibly damaging	Het
Marchf10	C	A	11: 105,280,741 (GRCm39)	A515S	probably benign	Het
Mrpl1	T	A	5: 96,386,733 (GRCm39)	L241I	probably damaging	Het
Mybpc1	A	T	10: 88,372,286 (GRCm39)	N781K	probably benign	Het
Nfkb2	T	A	19: 46,296,054 (GRCm39)	D186E	probably benign	Het
Or3a1b	G	A	11: 74,013,035 (GRCm39)	V307I	probably benign	Het
Plcl1	A	G	1: 55,734,976 (GRCm39)	I106V	probably benign	Het
Ppp4r2	A	G	6: 100,842,044 (GRCm39)	I168M	probably damaging	Het
Prpf4b	A	T	13: 35,079,974 (GRCm39)	K779N	probably damaging	Het
Qrich1	T	C	9: 108,433,760 (GRCm39)		probably null	Het
Rgs12	T	C	5: 35,123,117 (GRCm39)	F300S	probably damaging	Het
Sart3	T	A	5: 113,884,029 (GRCm39)	K661M	probably benign	Het
Scyl2	T	C	10: 89,489,971 (GRCm39)	I464V	possibly damaging	Het
Sema5a	A	G	15: 32,575,064 (GRCm39)	T391A	probably benign	Het
Sh3bgr	A	G	16: 96,025,070 (GRCm39)	T183A	unknown	Het
Sh3rf3	C	T	10: 58,940,242 (GRCm39)	P688S	probably benign	Het
Themis3	T	C	17: 66,866,962 (GRCm39)	T93A	probably benign	Het
Thsd7b	T	A	1: 130,117,688 (GRCm39)	S1402T	probably damaging	Het
Ubr1	A	T	2: 120,793,937 (GRCm39)	D82E	possibly damaging	Het
Vmn1r223	T	C	13: 23,433,982 (GRCm39)	F192S	probably benign	Het
Vmn2r98	A	G	17: 19,301,031 (GRCm39)	K678E	probably damaging	Het
Vps13d	G	T	4: 144,875,047 (GRCm39)	T1826N		Het
Vps41	A	G	13: 19,033,168 (GRCm39)	D633G	possibly damaging	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	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
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'- GTCTCAGTGCACACATGGAG -3'
(R):5'- CAGGCGTTGAAAGTACCTTGTTTG -3'

Sequencing Primer
(F):5'- AGTGGTCTTCAAGATGCTCAC -3'
(R):5'- TCCAATGCTATACCAAAAGT -3'

Posted On

2020-07-13