Mutagenetix > Incidental Mutations

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

4930513O09Rik, Cnbp2

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

103630586-103631670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103631000 bp

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]

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: 40,933,642	V307E	probably benign	Het
Bub1b	T	C	2: 118,614,994	I265T	possibly damaging	Het
Cntnap3	G	A	13: 64,787,837	T404I	probably damaging	Het
Disc1	T	C	8: 125,087,891	S165P	probably damaging	Het
Dock1	T	C	7: 134,789,278	F756L	probably benign	Het
Dock2	A	G	11: 34,698,790	V480A	possibly damaging	Het
Drc3	A	G	11: 60,364,962	D125G	probably null	Het
Emid1	C	T	11: 5,143,859	C96Y	probably damaging	Het
F13b	A	G	1: 139,506,793	N99S	probably damaging	Het
Fam20a	A	G	11: 109,678,458		probably benign	Het
Fancd2	C	A	6: 113,584,899	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,278,791	K172E	probably damaging	Het
Gm13941	T	C	2: 111,094,805		probably null	Het
Gtpbp4	A	T	13: 8,985,260	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,152,404	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,116,585	P23L	possibly damaging	Het
Kng2	T	A	16: 23,028,834	I26F	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrpprc	T	C	17: 84,705,412		probably benign	Het
Man2a2	C	T	7: 80,361,132	V704M	possibly damaging	Het
Mbip	A	G	12: 56,330,242	V303A	probably benign	Het
Mipep	A	T	14: 60,843,271	M571L	probably benign	Het
Ncan	A	T	8: 70,097,562	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,308,513	V292A	probably benign	Het
Pkd1	T	C	17: 24,587,919		probably benign	Het
Ppp2r2c	T	A	5: 36,947,121	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,719,046	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326	D443E	probably damaging	Het
Rptor	A	G	11: 119,891,170	M1108V	probably benign	Het
Serpine2	A	G	1: 79,810,694	V182A	probably damaging	Het
Sesn2	C	T	4: 132,499,967		probably benign	Het
Shank1	C	A	7: 44,353,123	A1422E	possibly damaging	Het
Slc13a4	C	T	6: 35,307,353		probably null	Het
Snrnp200	T	C	2: 127,230,127		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tbxas1	A	G	6: 39,017,973	I178V	probably benign	Het
Tmem2	C	T	19: 21,844,757	P1172L	possibly damaging	Het
Triml1	A	G	8: 43,141,397		probably benign	Het
Tsen2	A	T	6: 115,576,984	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,406		probably benign	Het
Ttc37	A	G	13: 76,129,379	H491R	probably benign	Het
Ttn	T	C	2: 76,881,304		probably benign	Het
Vsig10l	C	T	7: 43,465,254	S293L	probably damaging	Het

Posted On

2013-10-07