Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02314:Zbtb7c'

287948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb7c

Ensembl Gene

ENSMUSG00000044646

Gene Name

zinc finger and BTB domain containing 7C

Synonyms

Kr-pok, B230208J24Rik, Zbtb36

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

IGL02314

Quality Score

Status

Chromosome

Chromosomal Location

75820178-76148561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76145866 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 465 (R465H)

Ref Sequence

ENSEMBL: ENSMUSP00000126808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058997] [ENSMUST00000167921]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058997
AA Change: R465H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057856
Gene: ENSMUSG00000044646
AA Change: R465H

Domain	Start	End	E-Value	Type
BTB	34	131	1.13e-28	SMART
coiled coil region	144	167	N/A	INTRINSIC
low complexity region	290	316	N/A	INTRINSIC
ZnF_C2H2	364	386	1.89e-1	SMART
ZnF_C2H2	392	414	4.87e-4	SMART
ZnF_C2H2	420	442	1.92e-2	SMART
ZnF_C2H2	448	468	1.55e1	SMART
low complexity region	564	584	N/A	INTRINSIC
low complexity region	590	608	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167921
AA Change: R465H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126808
Gene: ENSMUSG00000044646
AA Change: R465H

Domain	Start	End	E-Value	Type
BTB	34	131	1.13e-28	SMART
coiled coil region	144	167	N/A	INTRINSIC
low complexity region	290	316	N/A	INTRINSIC
ZnF_C2H2	364	386	1.89e-1	SMART
ZnF_C2H2	392	414	4.87e-4	SMART
ZnF_C2H2	420	442	1.92e-2	SMART
ZnF_C2H2	448	468	1.55e1	SMART
low complexity region	564	584	N/A	INTRINSIC
low complexity region	590	608	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation exhibit decreased proliferation of mouse embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg2	T	A	4: 47,472,143	K94*	probably null	Het
Axl	A	G	7: 25,786,920	F120L	possibly damaging	Het
Baz2b	A	G	2: 59,962,227	V519A	probably benign	Het
Cdk2	A	T	10: 128,703,726	I99N	probably damaging	Het
Ces1b	C	A	8: 93,064,896	W358C	possibly damaging	Het
Clca3b	A	G	3: 144,828,142		probably benign	Het
Col6a4	T	G	9: 105,997,156	T2211P	probably damaging	Het
Cyp4f14	C	T	17: 32,906,291	E438K	probably benign	Het
Dpy19l4	T	A	4: 11,267,720	T407S	possibly damaging	Het
Dtx3	G	A	10: 127,190,959		probably benign	Het
Fat3	A	T	9: 15,969,838	L3246H	possibly damaging	Het
Fat4	A	T	3: 38,887,630	D224V	probably damaging	Het
Fndc9	A	T	11: 46,238,295	I214F	probably benign	Het
Foxred1	A	T	9: 35,205,968	I22N	probably damaging	Het
Gkn1	T	C	6: 87,349,121	D29G	probably benign	Het
Gm13078	T	C	4: 143,728,442	S437P	probably benign	Het
Gm2035	T	A	12: 87,919,607	Y84F	probably benign	Het
Gng11	T	A	6: 4,004,317	M1K	probably null	Het
Hdac7	T	C	15: 97,809,004	D237G	probably damaging	Het
Hgf	A	G	5: 16,572,602	Y199C	probably damaging	Het
Hgfac	A	T	5: 35,041,597	M1L	probably benign	Het
Hsd17b6	T	C	10: 127,997,908	T35A	probably damaging	Het
Htr3a	G	A	9: 48,904,627	P170L	probably damaging	Het
Ighv12-3	A	G	12: 114,366,801	S25P	probably damaging	Het
Jph2	A	T	2: 163,397,353	N58K	probably damaging	Het
Lama5	A	G	2: 180,194,482		probably benign	Het
Lpin3	T	A	2: 160,898,718	Y394*	probably null	Het
Macf1	G	T	4: 123,444,837	T2248K	probably damaging	Het
Map3k2	A	G	18: 32,218,500		probably benign	Het
Map4k5	G	A	12: 69,818,439	P524S	probably benign	Het
Mcf2l	C	T	8: 13,001,851	S359L	probably damaging	Het
Mdh1b	C	T	1: 63,711,114		probably null	Het
Mfhas1	G	A	8: 35,588,773	R134H	probably damaging	Het
Mogs	A	G	6: 83,118,055	T618A	probably benign	Het
Mybpc2	T	A	7: 44,522,388	Q39H	possibly damaging	Het
Myoc	C	T	1: 162,639,348	R29W	probably damaging	Het
Nae1	A	G	8: 104,526,306	M162T	probably damaging	Het
Nfatc3	A	G	8: 106,078,900	I126V	probably benign	Het
Nxnl2	C	A	13: 51,171,529	F69L	probably benign	Het
Oca2	T	A	7: 56,357,151	I662N	probably benign	Het
Odf3b	T	G	15: 89,378,169	K82N	probably damaging	Het
Olfr1151	A	G	2: 87,858,056	N294D	probably damaging	Het
Olfr1356	A	T	10: 78,847,265	S217T	probably damaging	Het
Olfr549	A	T	7: 102,555,111	I276F	probably damaging	Het
Olfr872	A	T	9: 20,260,478	I213L	probably benign	Het
Pcdhb14	G	A	18: 37,450,195	E785K	probably benign	Het
Plb1	A	C	5: 32,281,148	Y209S	possibly damaging	Het
Rab44	C	A	17: 29,139,353	Q172K	probably benign	Het
Rnf214	A	T	9: 45,899,807	V186E	probably benign	Het
Rps6ka1	C	A	4: 133,850,754	G522W	probably damaging	Het
Samhd1	G	T	2: 157,135,028	T21K	probably damaging	Het
Scly	A	G	1: 91,319,041	Y358C	probably benign	Het
Sfxn2	A	G	19: 46,582,587	N29D	possibly damaging	Het
Shank2	A	G	7: 144,411,271	D1451G	probably benign	Het
Slc44a5	G	A	3: 154,256,519	S363N	probably damaging	Het
Smg1	A	G	7: 118,154,709		probably benign	Het
Tas1r3	A	T	4: 155,860,662	C701S	probably damaging	Het
Tmem87a	A	G	2: 120,404,021	S14P	possibly damaging	Het
Trmt6	G	A	2: 132,805,458	A486V	probably benign	Het
Ttn	G	A	2: 76,896,747	R1602*	probably null	Het
Ush2a	A	G	1: 188,633,629	M2227V	probably benign	Het
Vmn2r96	A	T	17: 18,583,959	Q490H	probably benign	Het
Wdr19	G	T	5: 65,257,120	A1279S	probably benign	Het
Zfp473	T	C	7: 44,733,929	S326G	probably benign	Het

Other mutations in Zbtb7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Zbtb7c	APN	18	76145850	missense	possibly damaging	0.92
IGL02397:Zbtb7c	APN	18	76136976	missense	possibly damaging	0.63
R0112:Zbtb7c	UTSW	18	76136891	missense	probably damaging	1.00
R0374:Zbtb7c	UTSW	18	76137393	missense	probably benign	0.01
R1485:Zbtb7c	UTSW	18	76136990	missense	probably damaging	1.00
R1818:Zbtb7c	UTSW	18	76137525	missense	probably damaging	1.00
R1866:Zbtb7c	UTSW	18	76136906	missense	probably benign	0.16
R3737:Zbtb7c	UTSW	18	76136940	missense	probably damaging	1.00
R4611:Zbtb7c	UTSW	18	76136847	missense	possibly damaging	0.81
R4737:Zbtb7c	UTSW	18	76146154	missense	probably benign	0.15
R5080:Zbtb7c	UTSW	18	76137342	missense	probably benign	0.06
R6160:Zbtb7c	UTSW	18	76145833	missense	probably benign	0.05
R6262:Zbtb7c	UTSW	18	76137342	missense	probably benign
R7193:Zbtb7c	UTSW	18	76137938	missense	probably damaging	1.00
R7703:Zbtb7c	UTSW	18	76137362	missense	probably benign	0.02
R7849:Zbtb7c	UTSW	18	76145701	missense	probably benign	0.40
R8047:Zbtb7c	UTSW	18	76137150	missense	probably damaging	0.98
R8157:Zbtb7c	UTSW	18	76137327	missense	probably benign	0.05

Posted On

2015-04-16