Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02940:Zfp830'

364484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp830

Ensembl Gene

ENSMUSG00000046010

Gene Name

zinc finger protein 830

Synonyms

Omcg1, 2410003C20Rik, Ccdc16

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02940

Quality Score

Status

Chromosome

Chromosomal Location

82655171-82656761 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 82656295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021040] [ENSMUST00000056677] [ENSMUST00000100722]

AlphaFold

Q8R1N0

Predicted Effect

probably benign
Transcript: ENSMUST00000021040

SMART Domains

Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	30	526	1.1e-161	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056677

SMART Domains

Protein: ENSMUSP00000056154
Gene: ENSMUSG00000046010

Domain	Start	End	E-Value	Type
coiled coil region	13	40	N/A	INTRINSIC
Blast:ZnF_U1	48	82	4e-10	BLAST
low complexity region	129	143	N/A	INTRINSIC
low complexity region	156	167	N/A	INTRINSIC
coiled coil region	303	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100722

SMART Domains

Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	4	486	9.7e-140	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality with failure of implantation, failure to hatch from the zona pellucida, impaired outgrowth of the inner cell mass and trophectoderm, and prolonged mitosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	T	A	8: 95,760,084 (GRCm39)	V101D	possibly damaging	Het
Brca1	T	C	11: 101,380,738 (GRCm39)	D1765G	probably benign	Het
Cadps2	T	C	6: 23,496,808 (GRCm39)	K450R	probably benign	Het
Cc2d2a	A	T	5: 43,885,636 (GRCm39)		probably null	Het
Dbh	A	G	2: 27,058,321 (GRCm39)	Y163C	probably damaging	Het
Drc7	T	A	8: 95,800,925 (GRCm39)	I649N	probably damaging	Het
Dst	G	A	1: 34,328,668 (GRCm39)	A7097T	probably benign	Het
Fbxo46	A	G	7: 18,869,537 (GRCm39)	H52R	probably benign	Het
Gm9944	T	C	4: 144,179,709 (GRCm39)		probably benign	Het
Lsm14a	G	T	7: 34,070,596 (GRCm39)	S100*	probably null	Het
Mrc2	C	T	11: 105,231,997 (GRCm39)	R850C	probably damaging	Het
Musk	A	G	4: 58,373,364 (GRCm39)	D763G	probably damaging	Het
Ncan	C	T	8: 70,562,735 (GRCm39)	V508I	probably benign	Het
Or4k35	A	T	2: 111,100,073 (GRCm39)	L213Q	probably damaging	Het
Pgls	C	T	8: 72,046,741 (GRCm39)	S18L	probably damaging	Het
Phf20l1	A	G	15: 66,467,000 (GRCm39)	T98A	probably damaging	Het
Ppp1r36dn	A	C	12: 76,497,944 (GRCm39)		noncoding transcript	Het
Prdm13	T	A	4: 21,683,421 (GRCm39)	K180*	probably null	Het
Rai1	T	C	11: 60,077,844 (GRCm39)	V636A	probably benign	Het
Setd5	T	C	6: 113,091,899 (GRCm39)	F240S	possibly damaging	Het
Slco1a5	A	G	6: 142,187,731 (GRCm39)	L536P	probably damaging	Het
Stk39	C	T	2: 68,051,243 (GRCm39)		probably null	Het
Tenm2	T	C	11: 35,932,471 (GRCm39)	T1707A	probably damaging	Het
Tlr2	A	T	3: 83,743,781 (GRCm39)	D767E	probably benign	Het
Tlr7	C	T	X: 166,090,830 (GRCm39)	V219I	probably benign	Het
Tmprss7	A	G	16: 45,476,818 (GRCm39)	S815P	probably damaging	Het
Trav12-1	T	A	14: 53,776,017 (GRCm39)	W57R	probably damaging	Het
Uxt	T	C	X: 20,826,025 (GRCm39)	E66G	possibly damaging	Het
Vmn2r45	A	T	7: 8,475,369 (GRCm39)	M553K	probably damaging	Het
Vmn2r67	A	G	7: 84,785,951 (GRCm39)	W685R	probably benign	Het
Vstm5	A	C	9: 15,168,962 (GRCm39)	D144A	probably damaging	Het
Zfp592	A	G	7: 80,674,575 (GRCm39)	H513R	probably damaging	Het
Zfp990	A	G	4: 145,261,492 (GRCm39)		probably null	Het

Other mutations in Zfp830

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0143:Zfp830	UTSW	11	82,655,994 (GRCm39)	missense	possibly damaging	0.70
R1078:Zfp830	UTSW	11	82,656,165 (GRCm39)	splice site	probably null
R1524:Zfp830	UTSW	11	82,655,794 (GRCm39)	missense	probably damaging	0.97
R3686:Zfp830	UTSW	11	82,656,188 (GRCm39)	missense	possibly damaging	0.89
R5702:Zfp830	UTSW	11	82,655,800 (GRCm39)	missense	possibly damaging	0.79
R5982:Zfp830	UTSW	11	82,655,803 (GRCm39)	missense	probably benign	0.16
R7252:Zfp830	UTSW	11	82,655,534 (GRCm39)	missense	probably benign	0.00
R8507:Zfp830	UTSW	11	82,655,529 (GRCm39)	missense	probably benign	0.00
R9699:Zfp830	UTSW	11	82,655,805 (GRCm39)	missense	possibly damaging	0.62
R9755:Zfp830	UTSW	11	82,655,805 (GRCm39)	missense	possibly damaging	0.62
R9784:Zfp830	UTSW	11	82,655,805 (GRCm39)	missense	possibly damaging	0.62

Posted On

2015-12-18