Mutagenetix > Incidental Mutation

Incidental Mutation 'R4463:Zc2hc1c'

330241

Institutional Source

Beutler Lab

Gene Symbol

Zc2hc1c

Ensembl Gene

ENSMUSG00000045064

Gene Name

zinc finger, C2HC-type containing 1C

Synonyms

2810002I04Rik, Fam164c

MMRRC Submission

041721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R4463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85321060-85346132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85337071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 243 (R243G)

Ref Sequence

ENSEMBL: ENSMUSP00000051664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059341] [ENSMUST00000121930]

AlphaFold

Q8CCG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000059341
AA Change: R243G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051664
Gene: ENSMUSG00000045064
AA Change: R243G

Domain	Start	End	E-Value	Type
low complexity region	93	106	N/A	INTRINSIC
coiled coil region	207	254	N/A	INTRINSIC
Pfam:zf-C2HC_2	378	402	3.6e-10	PFAM
low complexity region	433	444	N/A	INTRINSIC
Pfam:zf-C2HC_2	489	513	3.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121930

SMART Domains

Protein: ENSMUSP00000112609
Gene: ENSMUSG00000008822

Domain	Start	End	E-Value	Type
Pfam:Acylphosphatase	64	156	4.5e-25	PFAM

Meta Mutation Damage Score

0.1301

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,769,981 (GRCm39)		probably benign	Het
Abcc8	T	C	7: 45,756,005 (GRCm39)		probably null	Het
Alox12e	A	G	11: 70,209,082 (GRCm39)	L388P	probably damaging	Het
Aspm	T	A	1: 139,382,748 (GRCm39)	S27T	possibly damaging	Het
Capn2	G	A	1: 182,307,329 (GRCm39)		probably benign	Het
Catspere1	G	A	1: 177,765,279 (GRCm39)		noncoding transcript	Het
Ccdc158	T	C	5: 92,782,159 (GRCm39)	D820G	probably null	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Chd9	T	A	8: 91,705,627 (GRCm39)	D761E	probably benign	Het
Chst8	T	C	7: 34,374,645 (GRCm39)	D398G	probably damaging	Het
Clns1a	T	C	7: 97,370,156 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,318,084 (GRCm39)	Y355F	probably damaging	Het
Cyp4f37	A	G	17: 32,846,710 (GRCm39)		probably null	Het
Eif1ad11	A	G	12: 87,994,129 (GRCm39)	D119G	probably benign	Het
Eipr1	G	A	12: 28,909,338 (GRCm39)	A202T	probably damaging	Het
Fam83a	T	C	15: 57,858,655 (GRCm39)	S232P	probably damaging	Het
Fastkd2	C	T	1: 63,774,968 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,850,144 (GRCm39)	M1197V	probably benign	Het
Fgfr4	G	A	13: 55,304,280 (GRCm39)	V107I	probably benign	Het
Gatad1	G	T	5: 3,697,404 (GRCm39)	S72R	probably benign	Het
Gli2	T	C	1: 118,763,738 (GRCm39)	D1471G	probably damaging	Het
Gm1330	A	T	2: 148,845,064 (GRCm39)	Y36*	probably null	Het
Gm29125	T	C	1: 80,360,903 (GRCm39)		noncoding transcript	Het
Idi1	G	A	13: 8,937,508 (GRCm39)		probably benign	Het
Itgbl1	C	T	14: 124,078,080 (GRCm39)	T190I	probably damaging	Het
Kbtbd3	G	A	9: 4,331,257 (GRCm39)	G544R	probably damaging	Het
Kifc3	T	C	8: 95,828,744 (GRCm39)	T638A	probably damaging	Het
Lama1	G	A	17: 68,068,695 (GRCm39)	C798Y	probably damaging	Het
Larp6	C	A	9: 60,644,279 (GRCm39)	H140N	probably damaging	Het
Mctp1	A	T	13: 76,860,206 (GRCm39)	D108V	probably damaging	Het
Myzap	G	T	9: 71,462,933 (GRCm39)	D204E	probably benign	Het
Neb	GCC	GC	2: 52,169,734 (GRCm39)		probably null	Het
Or13p8	T	C	4: 118,583,855 (GRCm39)	V137A	probably benign	Het
Or1j20	T	C	2: 36,760,205 (GRCm39)	I209T	probably benign	Het
Or4c102	T	C	2: 88,422,976 (GRCm39)	V276A	possibly damaging	Het
Phka1	A	G	X: 101,588,990 (GRCm39)	V818A	probably benign	Het
Plek	T	C	11: 16,931,873 (GRCm39)	Y326C	possibly damaging	Het
Pp2d1	A	G	17: 53,822,886 (GRCm39)	I60T	probably benign	Het
Prmt3	T	C	7: 49,467,837 (GRCm39)	Y348H	probably damaging	Het
Psg27	G	T	7: 18,291,010 (GRCm39)	Q398K	possibly damaging	Het
Raver1	T	C	9: 21,003,123 (GRCm39)	T51A	probably benign	Het
Ripk2	T	C	4: 16,151,968 (GRCm39)	N197S	possibly damaging	Het
Sectm1a	T	A	11: 120,960,477 (GRCm39)	I113L	probably benign	Het
Slc2a4	G	A	11: 69,834,148 (GRCm39)		probably benign	Het
Snph	A	T	2: 151,436,035 (GRCm39)	S229T	probably damaging	Het
Stpg4	A	G	17: 87,697,101 (GRCm39)	F183L	probably benign	Het
Tango6	A	T	8: 107,415,706 (GRCm39)	T176S	probably benign	Het
Vmn1r196	A	G	13: 22,477,853 (GRCm39)	Q164R	probably benign	Het
Vstm4	T	A	14: 32,639,833 (GRCm39)	L236Q	probably damaging	Het
Xylb	A	G	9: 119,215,433 (GRCm39)	D462G	probably benign	Het

Other mutations in Zc2hc1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Zc2hc1c	APN	12	85,336,450 (GRCm39)	missense	probably benign	0.03
IGL02677:Zc2hc1c	APN	12	85,336,850 (GRCm39)	missense	probably benign	0.31
R1053:Zc2hc1c	UTSW	12	85,343,330 (GRCm39)	missense	probably damaging	1.00
R1696:Zc2hc1c	UTSW	12	85,337,555 (GRCm39)	missense	possibly damaging	0.86
R1724:Zc2hc1c	UTSW	12	85,336,586 (GRCm39)	missense	probably benign	0.00
R1905:Zc2hc1c	UTSW	12	85,337,288 (GRCm39)	missense	probably benign	0.03
R1996:Zc2hc1c	UTSW	12	85,343,434 (GRCm39)	missense	probably benign	0.31
R4834:Zc2hc1c	UTSW	12	85,336,982 (GRCm39)	missense	probably damaging	1.00
R5070:Zc2hc1c	UTSW	12	85,337,288 (GRCm39)	missense	probably benign	0.03
R5943:Zc2hc1c	UTSW	12	85,336,483 (GRCm39)	missense	probably damaging	1.00
R6184:Zc2hc1c	UTSW	12	85,343,218 (GRCm39)	missense	probably damaging	0.96
R6701:Zc2hc1c	UTSW	12	85,336,446 (GRCm39)	splice site	probably null
R6704:Zc2hc1c	UTSW	12	85,337,258 (GRCm39)	missense	possibly damaging	0.84
R6719:Zc2hc1c	UTSW	12	85,337,446 (GRCm39)	missense	probably damaging	1.00
R7665:Zc2hc1c	UTSW	12	85,343,336 (GRCm39)	missense	possibly damaging	0.69
R8125:Zc2hc1c	UTSW	12	85,343,386 (GRCm39)	missense	probably damaging	1.00
R8154:Zc2hc1c	UTSW	12	85,336,946 (GRCm39)	missense	probably benign	0.00
R8268:Zc2hc1c	UTSW	12	85,336,595 (GRCm39)	missense	probably benign	0.02
R8356:Zc2hc1c	UTSW	12	85,337,471 (GRCm39)	missense	probably damaging	0.97
R8678:Zc2hc1c	UTSW	12	85,337,084 (GRCm39)	missense	probably benign	0.07
R8875:Zc2hc1c	UTSW	12	85,336,549 (GRCm39)	missense	possibly damaging	0.87
R9056:Zc2hc1c	UTSW	12	85,343,230 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTGAATTCATCTCTTCTTGC -3'
(R):5'- TAATCAGAGAGCTGGCGTGG -3'

Sequencing Primer
(F):5'- TCTTGCCTCTGTGCAGGCAG -3'
(R):5'- CTGAGCCTGATCACAAGTTTG -3'

Posted On

2015-07-21