Mutagenetix > Incidental Mutations

Incidental Mutation 'R7288:Zhx3'

566139

Institutional Source

Beutler Lab

Gene Symbol

Zhx3

Ensembl Gene

ENSMUSG00000035877

Gene Name

zinc fingers and homeoboxes 3

Synonyms

9530010N21Rik, 4932418O04Rik, Tix1, 1810059C13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160748708-160872998 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 160781122 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 375 (V375G)

Ref Sequence

ENSEMBL: ENSMUSP00000099400 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103111
AA Change: V375G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: V375G

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 damaging
Transcript: ENSMUST00000103112
AA Change: V375G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: V375G

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 damaging
Transcript: ENSMUST00000109460
AA Change: V375G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: V375G

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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
2810021J22Rik	T	A	11: 58,880,305	D204E	probably benign	Het
Adh1	T	G	3: 138,282,732	D155E	probably benign	Het
Akt1s1	T	C	7: 44,849,147	L2P	unknown	Het
Ash1l	T	A	3: 88,965,892		probably benign	Het
Bend7	C	T	2: 4,752,830	P228S	probably damaging	Het
Bpifc	T	C	10: 85,988,721	E218G	possibly damaging	Het
Cdk6	T	A	5: 3,429,001	F127Y	probably benign	Het
Cgnl1	A	T	9: 71,725,564	H168Q	possibly damaging	Het
Chd7	C	T	4: 8,847,093	T1612I	possibly damaging	Het
Col4a4	A	T	1: 82,492,463	C782S	unknown	Het
Copg2	T	A	6: 30,824,406	I364L	probably damaging	Het
Crygb	A	G	1: 65,081,925	L81P	probably benign	Het
Cyp4f18	A	T	8: 71,993,173	M326K	probably damaging	Het
Dhx34	A	G	7: 16,215,436	S356P	probably benign	Het
Dmbt1	C	T	7: 131,083,789	Q855*	probably null	Het
Dnph1	A	G	17: 46,499,012	N160S	probably benign	Het
Esrra	A	T	19: 6,912,771	C228*	probably null	Het
Evpl	T	C	11: 116,223,949	N972D	probably benign	Het
Fat3	T	C	9: 15,998,592	D2038G	probably damaging	Het
Fhit	T	A	14: 9,763,784	R102W	probably damaging	Het
Gal3st1	A	T	11: 3,998,609	D272V	probably damaging	Het
Gal3st1	T	A	11: 3,998,651	V286D	probably damaging	Het
Gemin4	A	T	11: 76,213,380	M185K	possibly damaging	Het
Hecw1	T	C	13: 14,316,236	I311V	probably benign	Het
Ift172	T	C	5: 31,285,286	Y179C	probably damaging	Het
Ighv7-3	C	T	12: 114,153,343	W66*	probably null	Het
Iqgap3	T	A	3: 88,108,835	I975N	probably damaging	Het
Khdrbs3	A	G	15: 69,049,413	E281G	possibly damaging	Het
Lamb2	A	T	9: 108,488,324	T1369S	probably benign	Het
Mettl8	A	T	2: 70,982,038	D84E	probably benign	Het
Mrgprb3	C	A	7: 48,643,311	C164F	probably damaging	Het
Mtg2	A	G	2: 180,083,387	Y131C	probably damaging	Het
Nacc1	C	T	8: 84,676,545	A234T	probably benign	Het
Nsmaf	C	T	4: 6,416,641	V551I	probably benign	Het
Olfr541	T	A	7: 140,705,029	C259*	probably null	Het
Olfr869	T	A	9: 20,137,441	Y108*	probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Pcdhb12	T	A	18: 37,436,015	D71E	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pkm	A	G	9: 59,668,913	S127G	probably benign	Het
Plxna2	T	A	1: 194,796,919	L1296H	probably damaging	Het
Ppil6	C	G	10: 41,498,528	T135R	probably benign	Het
Ppp2r3a	T	C	9: 101,127,004	Y378C	probably damaging	Het
Rabep2	C	T	7: 126,444,205	R426C	probably damaging	Het
Rad21	A	T	15: 51,982,580	H31Q	possibly damaging	Het
Rad50	G	T	11: 53,654,949	Y1182*	probably null	Het
Serpinb9c	C	T	13: 33,151,900	A218T	possibly damaging	Het
Slc17a2	C	A	13: 23,819,112	H248Q	probably benign	Het
Slc45a4	C	A	15: 73,586,936	E255*	probably null	Het
Slc8a3	T	A	12: 81,216,824	K596N	possibly damaging	Het
Tbc1d32	A	C	10: 56,051,387		probably null	Het
Tbl2	T	A	5: 135,154,399	I112N	possibly damaging	Het
Tchp	A	C	5: 114,715,569	K238T	probably damaging	Het
Tfap2d	G	A	1: 19,118,983	G251D	probably damaging	Het
Thrb	T	A	14: 18,030,186	M324K	probably damaging	Het
Tmem259	A	T	10: 79,978,466	L328Q	probably damaging	Het
Tmtc2	T	C	10: 105,413,608	H88R	probably damaging	Het
Tnfrsf21	A	G	17: 43,037,818	H107R	possibly damaging	Het
Trib1	T	C	15: 59,654,622	V347A	probably benign	Het
Ung	T	A	5: 114,131,254	L9*	probably null	Het
Vmn1r195	G	T	13: 22,279,004	V215F	probably damaging	Het
Wdr63	T	C	3: 146,081,252	T343A	probably damaging	Het
Wdr90	A	G	17: 25,846,312	S1657P	probably benign	Het
Wdsub1	A	T	2: 59,878,143	Y129N	possibly damaging	Het
Zfp369	T	G	13: 65,285,018		probably null	Het
Zfp770	G	T	2: 114,195,661	C642*	probably null	Het
Zfp981	C	T	4: 146,537,643	R342C	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
R0497:Zhx3	UTSW	2	160779994	nonsense	probably null
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
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
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'- CAGATGCAGTTGTCAGAGGG -3'
(R):5'- GGACTCCAACAGCTTTCTGAAG -3'

Sequencing Primer
(F):5'- TGATGCTTGTAACCCATTGGC -3'
(R):5'- TCCAACAGCTTTCTGAAGAACTC -3'

Posted On

2019-06-26