Mutagenetix > Incidental Mutation

Incidental Mutation 'R0497:Zhx3'

40515

Institutional Source

Beutler Lab

Gene Symbol

Zhx3

Ensembl Gene

ENSMUSG00000035877

Gene Name

zinc fingers and homeoboxes 3

Synonyms

9530010N21Rik, 4932418O04Rik, Tix1, 1810059C13Rik

MMRRC Submission

038693-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160748708-160872998 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 160779994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 751 (L751*)

Ref Sequence

ENSEMBL: ENSMUSP00000105086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103111] [ENSMUST00000103112] [ENSMUST00000103115] [ENSMUST00000109460] [ENSMUST00000127201] [ENSMUST00000176141]

AlphaFold

Q8C0Q2

Predicted Effect

probably null
Transcript: ENSMUST00000103111
AA Change: L751*

SMART Domains

Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: L751*

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
ZnF_C2H2	77	100	1.86e0	SMART
ZnF_C2H2	109	132	1.08e1	SMART
low complexity region	167	189	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
HOX	300	362	1.48e-6	SMART
low complexity region	434	447	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
HOX	489	551	2.25e-11	SMART
HOX	608	669	2.04e-9	SMART
low complexity region	677	690	N/A	INTRINSIC
HOX	759	821	7.49e-8	SMART
Pfam:Homez	836	888	5.2e-26	PFAM
low complexity region	919	936	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103112
AA Change: L751*

SMART Domains

Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: L751*

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
ZnF_C2H2	77	100	1.86e0	SMART
ZnF_C2H2	109	132	1.08e1	SMART
low complexity region	167	189	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
HOX	300	362	1.48e-6	SMART
low complexity region	434	447	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
HOX	489	551	2.25e-11	SMART
HOX	608	669	2.04e-9	SMART
low complexity region	677	690	N/A	INTRINSIC
HOX	759	821	7.49e-8	SMART
Pfam:Homez	836	888	5.2e-26	PFAM
low complexity region	919	936	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103115

SMART Domains

Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933

Domain	Start	End	E-Value	Type
PH	33	144	5.54e-7	SMART
PLCXc	320	464	3.7e-91	SMART
PH	489	680	2.99e1	SMART
SH2	548	645	1.12e-30	SMART
SH2	666	747	3.78e-28	SMART
SH3	794	850	6.49e-16	SMART
PH	804	933	8.93e-2	SMART
PLCYc	953	1070	3.23e-73	SMART
C2	1089	1192	1.37e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109460
AA Change: L751*

SMART Domains

Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: L751*

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
ZnF_C2H2	77	100	1.86e0	SMART
ZnF_C2H2	109	132	1.08e1	SMART
low complexity region	167	189	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
HOX	300	362	1.48e-6	SMART
low complexity region	434	447	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
HOX	489	551	2.25e-11	SMART
HOX	608	669	2.04e-9	SMART
low complexity region	677	690	N/A	INTRINSIC
HOX	759	821	7.49e-8	SMART
Pfam:Homez	841	888	1.3e-17	PFAM
low complexity region	919	936	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127201

SMART Domains

Protein: ENSMUSP00000120488
Gene: ENSMUSG00000035877

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
ZnF_C2H2	77	100	1.86e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133937

Predicted Effect

probably benign
Transcript: ENSMUST00000176141

SMART Domains

Protein: ENSMUSP00000134763
Gene: ENSMUSG00000035877

Domain	Start	End	E-Value	Type
low complexity region	42	58	N/A	INTRINSIC
ZnF_C2H2	77	100	1.86e0	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,147,465	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
C2cd5	A	G	6: 143,012,093	V972A	probably benign	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Chp1	A	G	2: 119,571,782	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,498,355	I335N	probably damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dennd1b	A	G	1: 139,039,986		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966	279	probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1281	A	G	2: 111,328,830	D137G	probably benign	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Slc22a16	T	G	10: 40,584,967	M255R	probably damaging	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zfp644	A	T	5: 106,638,333	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Znfx1	T	A	2: 167,055,411	Q531L	probably benign	Het

Other mutations in Zhx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Zhx3	APN	2	160780841	missense	probably damaging	0.99
IGL01759:Zhx3	APN	2	160780714	missense	probably damaging	1.00
IGL02170:Zhx3	APN	2	160779798	missense	probably damaging	1.00
IGL02550:Zhx3	APN	2	160781296	missense	probably damaging	1.00
R0882:Zhx3	UTSW	2	160780709	missense	probably damaging	1.00
R1396:Zhx3	UTSW	2	160781020	missense	possibly damaging	0.90
R1587:Zhx3	UTSW	2	160781693	splice site	probably null
R1646:Zhx3	UTSW	2	160781275	missense	probably damaging	1.00
R1822:Zhx3	UTSW	2	160780355	missense	probably benign	0.03
R2322:Zhx3	UTSW	2	160782028	missense	probably damaging	1.00
R3791:Zhx3	UTSW	2	160780448	missense	possibly damaging	0.94
R3899:Zhx3	UTSW	2	160780451	missense	possibly damaging	0.82
R4003:Zhx3	UTSW	2	160780889	missense	probably damaging	0.96
R4619:Zhx3	UTSW	2	160781959	missense	probably damaging	0.96
R5307:Zhx3	UTSW	2	160779868	missense	probably benign	0.02
R5461:Zhx3	UTSW	2	160780018	missense	probably benign
R5648:Zhx3	UTSW	2	160781961	missense	probably damaging	1.00
R5952:Zhx3	UTSW	2	160782017	missense	probably damaging	1.00
R6035:Zhx3	UTSW	2	160779543	missense	probably benign
R6035:Zhx3	UTSW	2	160779543	missense	probably benign
R6734:Zhx3	UTSW	2	160781720	missense	probably damaging	0.99
R6988:Zhx3	UTSW	2	160779868	missense	probably benign	0.02
R7032:Zhx3	UTSW	2	160780978	missense	probably damaging	1.00
R7288:Zhx3	UTSW	2	160781122	missense	probably damaging	1.00
R7348:Zhx3	UTSW	2	160782118	nonsense	probably null
R7947:Zhx3	UTSW	2	160781095	missense	probably damaging	1.00
R8101:Zhx3	UTSW	2	160781699	missense	probably damaging	0.99
R8152:Zhx3	UTSW	2	160780775	missense	probably benign
R8831:Zhx3	UTSW	2	160780771	missense	probably benign	0.05
R8886:Zhx3	UTSW	2	160781296	missense	probably damaging	1.00
R9310:Zhx3	UTSW	2	160779473	missense	possibly damaging	0.94
R9363:Zhx3	UTSW	2	160779865	missense	probably benign	0.00
R9422:Zhx3	UTSW	2	160782100	missense	probably benign	0.00
RF002:Zhx3	UTSW	2	160781806	missense	probably damaging	0.98
Z1088:Zhx3	UTSW	2	160779755	unclassified	probably benign
Z1176:Zhx3	UTSW	2	160781060	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCATACCTGCTATCTCCAAACC -3'
(R):5'- GCTGGACCGCCTAAGAAGTGAAAC -3'

Sequencing Primer
(F):5'- CAGCGTACCACCTCTGGC -3'
(R):5'- CTGATGGGCACATGCCTAAG -3'

Posted On

2013-05-23