Mutagenetix > Incidental Mutation

Incidental Mutation 'R6988:Chpt1'

543091

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 #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88305376-88339855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88324268 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q8C025

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

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

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

Domain	Start	End	E-Value	Type
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

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

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

Domain	Start	End	E-Value	Type
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

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

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

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

SMART Domains

Protein: ENSMUSP00000117620
Gene: ENSMUSG00000060002
AA Change: V145A

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,181,890 (GRCm39)	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,323,056 (GRCm39)	V31I	possibly damaging	Het
Aadacl4fm4	A	G	4: 144,412,895 (GRCm39)	F15S	probably benign	Het
Adgre1	C	T	17: 57,715,445 (GRCm39)	S255F	probably benign	Het
Aff4	T	G	11: 53,289,064 (GRCm39)	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,283,757 (GRCm39)		probably benign	Het
Ankrd31	T	A	13: 97,014,757 (GRCm39)	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,564,908 (GRCm39)	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,616,348 (GRCm39)	V332I	probably benign	Het
AY358078	A	G	14: 52,063,644 (GRCm39)	E430G	probably damaging	Het
B4gat1	T	A	19: 5,090,462 (GRCm39)	I395N	probably benign	Het
Bub1b	T	A	2: 118,467,311 (GRCm39)	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,394,868 (GRCm39)	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885 (GRCm39)	I87N	probably damaging	Het
Ces2g	G	C	8: 105,690,540 (GRCm39)	G107A	probably benign	Het
Col2a1	T	C	15: 97,902,335 (GRCm39)	T14A	unknown	Het
Dnah7a	T	C	1: 53,621,784 (GRCm39)	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,705,373 (GRCm39)	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,862,249 (GRCm39)	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,363,417 (GRCm39)	E3993G	probably damaging	Het
Erv3	C	T	2: 131,697,886 (GRCm39)	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,597,539 (GRCm39)	F647I	probably damaging	Het
Fbrs	G	A	7: 127,078,680 (GRCm39)		probably benign	Het
Fgfr1op2	T	C	6: 146,491,463 (GRCm39)	F109L	probably damaging	Het
Fv1	T	C	4: 147,953,728 (GRCm39)	F98S	possibly damaging	Het
H2-M10.1	T	C	17: 36,636,484 (GRCm39)	K107E	probably benign	Het
Hspg2	A	T	4: 137,256,201 (GRCm39)	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,766,383 (GRCm39)	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,307,881 (GRCm39)	V102I	probably benign	Het
Mnt	C	A	11: 74,733,635 (GRCm39)		probably benign	Het
Mrpl15	T	C	1: 4,852,883 (GRCm39)	T112A	probably benign	Het
Ncdn	T	C	4: 126,640,982 (GRCm39)	D506G	probably benign	Het
Ogdh	C	T	11: 6,263,806 (GRCm39)	R81*	probably null	Het
Or6c2	T	A	10: 129,362,542 (GRCm39)	S149T	probably benign	Het
Or6c217	G	C	10: 129,738,278 (GRCm39)	F100L	probably damaging	Het
Pole	G	T	5: 110,477,449 (GRCm39)	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,000,577 (GRCm39)		probably benign	Het
Rabep1	A	G	11: 70,825,363 (GRCm39)	K636E	probably damaging	Het
Rasgrf2	T	A	13: 92,033,754 (GRCm39)	Y1151F	probably benign	Het
Rrad	A	G	8: 105,357,268 (GRCm39)	V93A	probably damaging	Het
Sesn3	A	T	9: 14,221,553 (GRCm39)	R118*	probably null	Het
Slc27a3	T	C	3: 90,293,597 (GRCm39)	N596S	probably benign	Het
Snx19	C	A	9: 30,340,231 (GRCm39)	D456E	probably damaging	Het
Spata31h1	T	C	10: 82,127,733 (GRCm39)	D1759G	possibly damaging	Het
Supt20	T	C	3: 54,606,018 (GRCm39)	S35P	probably damaging	Het
Syde2	G	T	3: 145,725,564 (GRCm39)	R885L	probably benign	Het
Synm	G	A	7: 67,383,406 (GRCm39)	L1419F	probably damaging	Het
Tekt2	A	G	4: 126,217,236 (GRCm39)	F221L	probably benign	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmem39b	A	G	4: 129,586,941 (GRCm39)	I90T	possibly damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trib2	A	G	12: 15,865,339 (GRCm39)	S79P	probably damaging	Het
Usp32	T	C	11: 84,900,969 (GRCm39)	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,684,272 (GRCm39)	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,510 (GRCm39)	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716 (GRCm39)	E1357G	probably benign	Het
Zhx3	A	G	2: 160,621,788 (GRCm39)	M793T	probably benign	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
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'- AAACAGTTGTAGGTTTGGCACTC -3'
(R):5'- CACTAAGTTGTCCACCCATCTG -3'

Sequencing Primer
(F):5'- GCACTCATGGCTATTCTGATAAATC -3'
(R):5'- AAGTTGTCCACCCATCTGTAAATCTG -3'

Posted On

2018-11-28