Mutagenetix > Incidental Mutations

Incidental Mutation 'R5710:Zhx2'

452187

Institutional Source

Beutler Lab

Gene Symbol

Zhx2

Ensembl Gene

ENSMUSG00000071757

Gene Name

zinc fingers and homeoboxes 2

Synonyms

Afr1, Raf, Afr-1

MMRRC Submission

044396-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5710 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57694665-57839832 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57821470 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 78 (Y78*)

Ref Sequence

ENSEMBL: ENSMUSP00000094164 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000096430
AA Change: Y78*

SMART Domains

Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: Y78*

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230050P20Rik	G	T	9: 20,872,896	R138L	possibly damaging	Het
Adam28	G	A	14: 68,609,908	H713Y	probably damaging	Het
Adam39	A	T	8: 40,824,647	Y25F	probably benign	Het
Ankfn1	T	C	11: 89,503,925	N278S	probably benign	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Arhgap18	G	A	10: 26,860,733		probably null	Het
Bcl2a1b	A	C	9: 89,199,679	Q107P	probably benign	Het
Btbd9	A	G	17: 30,228,868	S525P	probably benign	Het
Cabin1	A	G	10: 75,647,018	S2093P	probably benign	Het
Ccnd1	T	C	7: 144,938,044	D86G	possibly damaging	Het
Chdh	C	A	14: 30,034,627	Q337K	probably damaging	Het
Cldn9	T	C	17: 23,683,447	D68G	probably damaging	Het
Cpt1b	T	A	15: 89,425,206	K41N	probably damaging	Het
Dsg1c	T	C	18: 20,272,351	Y274H	probably benign	Het
Eif2ak3	T	A	6: 70,883,733	I431N	probably damaging	Het
Erbb2	T	A	11: 98,427,080	W416R	probably damaging	Het
Fgd3	T	A	13: 49,296,729	I15F	probably benign	Het
Fkbp14	T	A	6: 54,589,270		probably null	Het
Havcr1	T	C	11: 46,752,526	V91A	probably damaging	Het
Kmt2d	T	C	15: 98,854,106		probably benign	Het
Lipc	T	A	9: 70,812,697	I343F	probably benign	Het
Madd	T	C	2: 91,154,476	T1331A	probably damaging	Het
Mcm5	A	C	8: 75,120,910	D445A	probably damaging	Het
Mdga2	C	A	12: 66,506,782	L98F	probably damaging	Het
Micall1	C	A	15: 79,127,090	H553Q	probably damaging	Het
Mxd4	A	G	5: 34,187,327		probably null	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351		probably benign	Het
Prtg	T	A	9: 72,809,640	Y88N	probably damaging	Het
Saxo1	C	T	4: 86,445,035	V404I	possibly damaging	Het
Sclt1	C	A	3: 41,663,963	E14*	probably null	Het
Strn	G	A	17: 78,687,599	L162F	probably damaging	Het
T	T	C	17: 8,441,642	S221P	probably benign	Het
Tbl1xr1	A	G	3: 22,210,414	D511G	probably damaging	Het
Ttc7	A	C	17: 87,290,246	N82T	probably damaging	Het
Ttn	C	T	2: 76,917,442	R4421H	possibly damaging	Het
Uaca	T	A	9: 60,871,811	L1158Q	probably damaging	Het
Vdr	T	C	15: 97,859,127	Y288C	probably damaging	Het
Vdr	A	T	15: 97,867,208	S217T	probably benign	Het
Znhit1	C	T	5: 136,982,602	C119Y	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
IGL02456:Zhx2	APN	15	57823639	missense	possibly damaging	0.72
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCAAGCAAACGGAAATCTAC -3'
(R):5'- CCGGATGGAACTTGGAGTTG -3'

Sequencing Primer
(F):5'- CATGGTTCGGACATCACAGGTAC -3'
(R):5'- ACTTGGAGTTGTGGTCAGACAAG -3'

Posted On

2017-01-03