Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Zfp830'

85743

Institutional Source

Beutler Lab

Gene Symbol

Zfp830

Ensembl Gene

ENSMUSG00000046010

Gene Name

zinc finger protein 830

Synonyms

Omcg1, Ccdc16, 2410003C20Rik

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1078 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

82764345-82765935 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 82765339 bp (GRCm38)

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 null
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 damaging
Transcript: ENSMUST00000056677
AA Change: L323P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056154
Gene: ENSMUSG00000046010
AA Change: L323P

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 null
Transcript: ENSMUST00000100722

SMART Domains

Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698

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

Meta Mutation Damage Score

0.1544

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	T	C	5: 65,988,355 (GRCm38)	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081 (GRCm38)		probably null	Het
Alpk3	A	T	7: 81,078,600 (GRCm38)	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860 (GRCm38)	A20V	unknown	Het
Bms1	T	C	6: 118,405,221 (GRCm38)	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377 (GRCm38)	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499 (GRCm38)	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541 (GRCm38)	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568 (GRCm38)	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566 (GRCm38)	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106 (GRCm38)		probably benign	Het
Ell2	T	C	13: 75,746,419 (GRCm38)		probably benign	Het
Eml2	A	T	7: 19,179,762 (GRCm38)	Y168F	probably benign	Het
Entrep1	T	A	19: 23,973,575 (GRCm38)	R547S	probably benign	Het
Ep400	C	T	5: 110,735,522 (GRCm38)		probably benign	Het
Ercc4	C	A	16: 13,130,197 (GRCm38)	A336D	probably benign	Het
Fat4	T	C	3: 38,983,086 (GRCm38)	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833 (GRCm38)	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865 (GRCm38)	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307 (GRCm38)	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830 (GRCm38)	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246 (GRCm38)	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847 (GRCm38)	Y371H	probably damaging	Het
Il22b	T	G	10: 118,290,151 (GRCm38)	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541 (GRCm38)	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764 (GRCm38)		probably benign	Het
Lgr6	C	T	1: 134,994,010 (GRCm38)	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474 (GRCm38)		probably benign	Het
Lrrc37a	G	T	11: 103,497,631 (GRCm38)	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518 (GRCm38)	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999 (GRCm38)	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732 (GRCm38)	N904S	possibly damaging	Het
Or12d13	T	A	17: 37,337,026 (GRCm38)	I69F	probably damaging	Het
Or4k47	T	C	2: 111,621,345 (GRCm38)	H243R	probably damaging	Het
Or9g4b	T	C	2: 85,786,093 (GRCm38)	V194A	possibly damaging	Het
Pld4	A	T	12: 112,763,442 (GRCm38)	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677 (GRCm38)	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086 (GRCm38)	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650 (GRCm38)	G149V	probably damaging	Het
Sanbr	A	C	11: 23,611,762 (GRCm38)	I358S	probably benign	Het
Soat2	T	A	15: 102,153,138 (GRCm38)		probably null	Het
Stab2	C	T	10: 86,907,133 (GRCm38)		probably null	Het
Tcf7l2	A	G	19: 55,743,195 (GRCm38)	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204 (GRCm38)		probably benign	Het
Thbs4	G	A	13: 92,762,926 (GRCm38)		probably benign	Het
Tmf1	T	C	6: 97,173,300 (GRCm38)	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319 (GRCm38)	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373 (GRCm38)	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853 (GRCm38)	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175 (GRCm38)		probably benign	Het
Utrn	T	G	10: 12,455,566 (GRCm38)		probably null	Het

Other mutations in Zfp830

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02940:Zfp830	APN	11	82,765,469 (GRCm38)	unclassified	probably benign
R0143:Zfp830	UTSW	11	82,765,168 (GRCm38)	missense	possibly damaging	0.70
R1524:Zfp830	UTSW	11	82,764,968 (GRCm38)	missense	probably damaging	0.97
R3686:Zfp830	UTSW	11	82,765,362 (GRCm38)	missense	possibly damaging	0.89
R5702:Zfp830	UTSW	11	82,764,974 (GRCm38)	missense	possibly damaging	0.79
R5982:Zfp830	UTSW	11	82,764,977 (GRCm38)	missense	probably benign	0.16
R7252:Zfp830	UTSW	11	82,764,708 (GRCm38)	missense	probably benign	0.00
R8507:Zfp830	UTSW	11	82,764,703 (GRCm38)	missense	probably benign	0.00
R9699:Zfp830	UTSW	11	82,764,979 (GRCm38)	missense	possibly damaging	0.62
R9755:Zfp830	UTSW	11	82,764,979 (GRCm38)	missense	possibly damaging	0.62
R9784:Zfp830	UTSW	11	82,764,979 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TCTTCGACGACCCTGAGGTAGATG -3'
(R):5'- GTCAGAGGAACCCAAGAACTTGGAC -3'

Sequencing Primer
(F):5'- TGCCCCAAAGGATCAGATG -3'
(R):5'- GACACAGCACTTTTTAAGGGAC -3'

Posted On

2013-11-18