Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03179:Zcchc24'

412115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zcchc24

Ensembl Gene

ENSMUSG00000055538

Gene Name

zinc finger, CCHC domain containing 24

Synonyms

2310047A01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

IGL03179

Quality Score

Status

Chromosome

Chromosomal Location

25712066-25769463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25720086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 193 (I193V)

Ref Sequence

ENSEMBL: ENSMUSP00000068677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069180]

AlphaFold

B2RVL6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069180
AA Change: I193V

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068677
Gene: ENSMUSG00000055538
AA Change: I193V

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC
ZnF_C2HC	133	149	3.74e-2	SMART
zf-3CxxC	165	233	1.81e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184642

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	A	14: 78,745,180 (GRCm39)	H1736L	probably benign	Het
App	A	G	16: 84,879,735 (GRCm39)	C133R	probably damaging	Het
Atxn7l2	G	T	3: 108,110,963 (GRCm39)	C524*	probably null	Het
Cckbr	T	C	7: 105,084,130 (GRCm39)	V288A	probably benign	Het
Ccr1l1	T	C	9: 123,777,787 (GRCm39)	Y220C	probably damaging	Het
Cdc42se2	A	T	11: 54,614,417 (GRCm39)	F47I	possibly damaging	Het
Cep290	T	A	10: 100,403,950 (GRCm39)	I2317N	possibly damaging	Het
Chrnd	T	C	1: 87,123,502 (GRCm39)	S347P	probably damaging	Het
Clcn5	T	A	X: 7,029,565 (GRCm39)		probably null	Het
D6Wsu163e	A	G	6: 126,927,074 (GRCm39)	D187G	probably damaging	Het
Dnajc13	T	A	9: 104,044,634 (GRCm39)	I1852F	probably benign	Het
Ecpas	C	T	4: 58,832,777 (GRCm39)	G861D	probably damaging	Het
Fcnb	A	G	2: 27,966,646 (GRCm39)	S296P	possibly damaging	Het
Fut2	C	T	7: 45,300,073 (GRCm39)	R233K	probably benign	Het
Gm21985	G	A	2: 112,188,900 (GRCm39)	V1078I	possibly damaging	Het
Gpc3	A	T	X: 51,486,090 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,280,044 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,781 (GRCm39)	E370G	probably damaging	Het
Myo5c	A	T	9: 75,163,148 (GRCm39)	I326F	possibly damaging	Het
Neb	A	T	2: 52,066,653 (GRCm39)	L5906Q	probably damaging	Het
Nrdc	A	T	4: 108,903,888 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,381,938 (GRCm39)	N17S	possibly damaging	Het
Or51f2	T	C	7: 102,527,279 (GRCm39)		probably benign	Het
Or6s1	T	C	14: 51,308,467 (GRCm39)	I128V	probably benign	Het
P2rx7	A	G	5: 122,811,763 (GRCm39)	Y358C	possibly damaging	Het
Pex10	A	C	4: 155,152,354 (GRCm39)	I61L	probably benign	Het
Phax	T	C	18: 56,713,364 (GRCm39)	F248L	probably damaging	Het
Phtf2	A	T	5: 20,987,397 (GRCm39)	D366E	probably damaging	Het
Pnpo	A	G	11: 96,830,085 (GRCm39)	Y205H	possibly damaging	Het
Pparg	T	A	6: 115,416,833 (GRCm39)	W9R	probably damaging	Het
Ppp4r3c2	G	A	X: 88,796,434 (GRCm39)	G89S	possibly damaging	Het
Prex1	C	T	2: 166,427,114 (GRCm39)	S867N	probably benign	Het
Pyroxd2	T	A	19: 42,736,001 (GRCm39)	N59I	possibly damaging	Het
Rnf135	T	A	11: 80,084,837 (GRCm39)	S203R	possibly damaging	Het
Sall1	T	A	8: 89,758,289 (GRCm39)	N605I	probably benign	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Slc25a14	T	C	X: 47,726,317 (GRCm39)	S152P	probably benign	Het
Strip1	A	T	3: 107,527,571 (GRCm39)	F436I	probably damaging	Het
Tgfa	T	C	6: 86,248,403 (GRCm39)	L135P	probably benign	Het
Tgif1	T	C	17: 71,151,942 (GRCm39)	Q170R	possibly damaging	Het
Tmc2	G	A	2: 130,071,107 (GRCm39)	E279K	probably damaging	Het
Tnks	G	T	8: 35,315,824 (GRCm39)	N987K	probably benign	Het
Traf3ip3	T	C	1: 192,876,676 (GRCm39)	E209G	probably damaging	Het
Vmn2r73	T	A	7: 85,519,468 (GRCm39)	I497L	probably benign	Het
Wrn	C	A	8: 33,800,734 (GRCm39)		probably null	Het

Other mutations in Zcchc24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0927:Zcchc24	UTSW	14	25,757,585 (GRCm39)	missense	possibly damaging	0.63
R6747:Zcchc24	UTSW	14	25,757,457 (GRCm39)	missense	probably damaging	1.00
R7980:Zcchc24	UTSW	14	25,720,185 (GRCm39)	missense	probably damaging	1.00
R8870:Zcchc24	UTSW	14	25,757,578 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02