Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Zhx2'

294187

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zhx2

Ensembl Gene

ENSMUSG00000071757

Gene Name

zinc fingers and homeoboxes 2

Synonyms

Afr1, Raf, Afr-1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

57694665-57839832 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57823639 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 801 (D801E)

Ref Sequence

ENSEMBL: ENSMUSP00000094164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096430]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096430
AA Change: D801E

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: D801E

Domain	Start	End	E-Value	Type
ZnF_C2H2	78	101	1.79e-2	SMART
ZnF_C2H2	110	133	1.99e0	SMART
low complexity region	191	209	N/A	INTRINSIC
HOX	263	324	2.11e-3	SMART
HOX	439	501	4.94e-8	SMART
HOX	530	591	2.8e-7	SMART
HOX	628	690	3.09e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160990

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Alpha-fetoprotein levels in plasma decline precipitously after birth. This gene regulates a difference in adult level and rate of neonatal decrease of AFP. The BALB/cJ substrain carries a genetic variant allele determining a slow rate of decline to adultlevel. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het

Other mutations in Zhx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Zhx2	APN	15	57822870	missense	probably damaging	1.00
IGL00694:Zhx2	APN	15	57821760	missense	probably benign
IGL02407:Zhx2	APN	15	57823406	missense	probably benign	0.00
IGL02737:Zhx2	APN	15	57822267	missense	probably damaging	1.00
IGL03050:Zhx2	UTSW	15	57822833	missense	possibly damaging	0.90
R0010:Zhx2	UTSW	15	57821274	missense	possibly damaging	0.92
R0105:Zhx2	UTSW	15	57822695	missense	probably damaging	1.00
R0420:Zhx2	UTSW	15	57821840	missense	probably damaging	1.00
R0799:Zhx2	UTSW	15	57821313	missense	probably benign
R0800:Zhx2	UTSW	15	57822728	missense	probably damaging	1.00
R2273:Zhx2	UTSW	15	57823169	missense	probably benign	0.30
R2497:Zhx2	UTSW	15	57823155	missense	possibly damaging	0.48
R4198:Zhx2	UTSW	15	57821729	missense	probably benign
R4372:Zhx2	UTSW	15	57823301	missense	probably benign	0.02
R4992:Zhx2	UTSW	15	57823587	missense	probably damaging	0.96
R4994:Zhx2	UTSW	15	57821359	missense	probably benign	0.03
R5085:Zhx2	UTSW	15	57822693	missense	probably damaging	1.00
R5141:Zhx2	UTSW	15	57821786	missense	probably benign	0.00
R5470:Zhx2	UTSW	15	57823074	missense	possibly damaging	0.76
R5659:Zhx2	UTSW	15	57822308	missense	probably benign
R5710:Zhx2	UTSW	15	57821470	nonsense	probably null
R6171:Zhx2	UTSW	15	57823206	missense	probably damaging	1.00
R7181:Zhx2	UTSW	15	57823350	missense	probably benign
R7215:Zhx2	UTSW	15	57823643	missense	probably benign
R7273:Zhx2	UTSW	15	57823428	missense	probably benign	0.09
R7575:Zhx2	UTSW	15	57823262	missense	probably damaging	1.00
R7662:Zhx2	UTSW	15	57822176	missense	probably damaging	1.00
R7883:Zhx2	UTSW	15	57821874	missense	possibly damaging	0.67
R7966:Zhx2	UTSW	15	57821874	missense	possibly damaging	0.67

Posted On

2015-04-16