Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Chtop'

632468

Institutional Source

Beutler Lab

Gene Symbol

Chtop

Ensembl Gene

ENSMUSG00000001017

Gene Name

chromatin target of PRMT1

Synonyms

friend of Prmt1, 2500003M10Rik, Fop

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90498956-90509498 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 90505393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001043] [ENSMUST00000049937] [ENSMUST00000076639] [ENSMUST00000107342] [ENSMUST00000107343] [ENSMUST00000107344] [ENSMUST00000107346] [ENSMUST00000131868] [ENSMUST00000146740]

AlphaFold

Q9CY57

Predicted Effect

probably benign
Transcript: ENSMUST00000001043

SMART Domains

Protein: ENSMUSP00000001043
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	62	84	N/A	INTRINSIC
low complexity region	86	106	N/A	INTRINSIC
FoP_duplication	133	221	3.35e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000049937

SMART Domains

Protein: ENSMUSP00000061800
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC
low complexity region	87	109	N/A	INTRINSIC
low complexity region	111	131	N/A	INTRINSIC
FoP_duplication	158	246	3.35e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076639

SMART Domains

Protein: ENSMUSP00000075936
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
Blast:FoP_duplication	59	84	3e-6	BLAST
low complexity region	86	108	N/A	INTRINSIC
FoP_duplication	114	199	1.21e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107342

SMART Domains

Protein: ENSMUSP00000102965
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
Blast:FoP_duplication	34	59	3e-6	BLAST
low complexity region	61	83	N/A	INTRINSIC
FoP_duplication	89	174	1.21e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107343

SMART Domains

Protein: ENSMUSP00000102966
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	62	84	N/A	INTRINSIC
FoP_duplication	90	175	1.21e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107344

SMART Domains

Protein: ENSMUSP00000102967
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	62	84	N/A	INTRINSIC
low complexity region	86	106	N/A	INTRINSIC
FoP_duplication	133	221	3.35e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107346

SMART Domains

Protein: ENSMUSP00000102969
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC
low complexity region	87	109	N/A	INTRINSIC
FoP_duplication	115	200	1.21e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131868

SMART Domains

Protein: ENSMUSP00000123448
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC
low complexity region	87	109	N/A	INTRINSIC
low complexity region	111	122	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000146740

SMART Domains

Protein: ENSMUSP00000116945
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	115	137	N/A	INTRINSIC
low complexity region	139	159	N/A	INTRINSIC
low complexity region	177	195	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly damaging	Het

Other mutations in Chtop

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02739:Chtop	APN	3	90502250	missense	possibly damaging	0.69
IGL02979:Chtop	APN	3	90500095	missense	probably benign	0.04
R1672:Chtop	UTSW	3	90507567	missense	probably damaging	0.99
R2163:Chtop	UTSW	3	90502211	missense	probably benign	0.02
R5728:Chtop	UTSW	3	90500092	missense	probably damaging	1.00
R5734:Chtop	UTSW	3	90502115	critical splice donor site	probably null
R7082:Chtop	UTSW	3	90507584	missense	probably benign
R7936:Chtop	UTSW	3	90507351	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGAAAATGTGGGCCTACGG -3'
(R):5'- GTTCATTAGCATAGCAGAACAAGC -3'

Sequencing Primer
(F):5'- CTACGGCTTGTTGTTCTCCTGAG -3'
(R):5'- TTAGCATAGCAGAACAAGCATATAG -3'

Posted On

2020-06-30