Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01319:Zcchc13'

73984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zcchc13

Ensembl Gene

ENSMUSG00000031330

Gene Name

zinc finger, CCHC domain containing 13

Synonyms

Cnbp2, 4930513O09Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

102674192-102675276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102674606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 110 (Q110K)

Ref Sequence

ENSEMBL: ENSMUSP00000033692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033692]

AlphaFold

Q9D548

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033692
AA Change: Q110K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033692
Gene: ENSMUSG00000031330
AA Change: Q110K

Domain	Start	End	E-Value	Type
ZnF_C2HC	5	21	3.95e-4	SMART
low complexity region	22	35	N/A	INTRINSIC
ZnF_C2HC	46	62	6.08e-5	SMART
ZnF_C2HC	66	82	1e-5	SMART
ZnF_C2HC	90	106	7.79e-3	SMART
ZnF_C2HC	111	127	6.99e-5	SMART
ZnF_C2HC	129	145	1.82e-3	SMART
ZnF_C2HC	150	166	3.74e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,888,077 (GRCm39)	V307E	probably benign	Het
Bub1b	T	C	2: 118,445,475 (GRCm39)	I265T	possibly damaging	Het
Cemip2	C	T	19: 21,822,121 (GRCm39)	P1172L	possibly damaging	Het
Cntnap3	G	A	13: 64,935,651 (GRCm39)	T404I	probably damaging	Het
Disc1	T	C	8: 125,814,630 (GRCm39)	S165P	probably damaging	Het
Dock1	T	C	7: 134,391,007 (GRCm39)	F756L	probably benign	Het
Dock2	A	G	11: 34,589,617 (GRCm39)	V480A	possibly damaging	Het
Drc3	A	G	11: 60,255,788 (GRCm39)	D125G	probably null	Het
Emid1	C	T	11: 5,093,859 (GRCm39)	C96Y	probably damaging	Het
F13b	A	G	1: 139,434,531 (GRCm39)	N99S	probably damaging	Het
Fam20a	A	G	11: 109,569,284 (GRCm39)		probably benign	Het
Fancd2	C	A	6: 113,561,860 (GRCm39)	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,107,859 (GRCm39)	K172E	probably damaging	Het
Gm13941	T	C	2: 110,925,150 (GRCm39)		probably null	Het
Gtpbp4	A	T	13: 9,035,296 (GRCm39)	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,129,388 (GRCm39)	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,093,548 (GRCm39)	P23L	possibly damaging	Het
Kng2	T	A	16: 22,847,584 (GRCm39)	I26F	probably damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Lrpprc	T	C	17: 85,012,840 (GRCm39)		probably benign	Het
Man2a2	C	T	7: 80,010,880 (GRCm39)	V704M	possibly damaging	Het
Mbip	A	G	12: 56,377,027 (GRCm39)	V303A	probably benign	Het
Mipep	A	T	14: 61,080,720 (GRCm39)	M571L	probably benign	Het
Ncan	A	T	8: 70,550,212 (GRCm39)	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,441,566 (GRCm39)	V292A	probably benign	Het
Pkd1	T	C	17: 24,806,893 (GRCm39)		probably benign	Het
Ppp2r2c	T	A	5: 37,104,465 (GRCm39)	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,596,245 (GRCm39)	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326 (GRCm39)	D443E	probably damaging	Het
Rptor	A	G	11: 119,781,996 (GRCm39)	M1108V	probably benign	Het
Serpine2	A	G	1: 79,788,411 (GRCm39)	V182A	probably damaging	Het
Sesn2	C	T	4: 132,227,278 (GRCm39)		probably benign	Het
Shank1	C	A	7: 44,002,547 (GRCm39)	A1422E	possibly damaging	Het
Skic3	A	G	13: 76,277,498 (GRCm39)	H491R	probably benign	Het
Slc13a4	C	T	6: 35,284,288 (GRCm39)		probably null	Het
Snrnp200	T	C	2: 127,072,047 (GRCm39)		probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
Tbxas1	A	G	6: 38,994,907 (GRCm39)	I178V	probably benign	Het
Triml1	A	G	8: 43,594,434 (GRCm39)		probably benign	Het
Tsen2	A	T	6: 115,553,945 (GRCm39)	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,492 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,711,648 (GRCm39)		probably benign	Het
Vsig10l	C	T	7: 43,114,678 (GRCm39)	S293L	probably damaging	Het

Posted On

2013-10-07