Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Zhx3'

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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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9687 (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 160781758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 163 (V163G)

Ref Sequence

ENSEMBL: ENSMUSP00000099400 (fasta)

Gene Model

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

AlphaFold

Q8C0Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000103111
AA Change: V163G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: V163G

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: ENSMUST00000103112
AA Change: V163G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: V163G

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: ENSMUST00000109460
AA Change: V163G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: V163G

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,948,422	L446P	probably damaging	Het
Abcc9	T	C	6: 142,633,163	T927A	probably benign	Het
Abraxas2	A	G	7: 132,880,848	T258A	probably benign	Het
Akna	A	T	4: 63,374,437	C1078*	probably null	Het
Arhgap24	T	A	5: 102,846,156	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,042	T61I	probably benign	Het
Crebrf	A	G	17: 26,763,627	*654W	probably null	Het
Dchs1	C	A	7: 105,757,984	R2134L	probably damaging	Het
Dcps	T	C	9: 35,124,682	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,610,733	E527K	probably damaging	Het
Dnah14	T	A	1: 181,598,413	M174K	probably benign	Het
Ehd1	A	G	19: 6,298,300	D436G		Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etv1	T	C	12: 38,861,362	Y396H	probably damaging	Het
Fam189a2	A	G	19: 23,979,665	I327T	probably damaging	Het
Fbxo11	A	G	17: 88,009,066	I293T		Het
Gcfc2	T	A	6: 81,941,342	S338T	probably damaging	Het
Gm10272	T	C	10: 77,706,930	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,103,439	T20A	unknown	Het
Gm17359	G	A	3: 79,429,992	D36N	possibly damaging	Het
Gna14	G	A	19: 16,604,986	R206Q		Het
Gpm6a	T	C	8: 55,050,174	Y153H	possibly damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 36,814,255	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,341,021	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546	L138P	probably damaging	Het
Kif26a	A	G	12: 112,177,191	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,566,693	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,320,708	D184V		Het
Ncdn	G	A	4: 126,748,674	R397W	probably damaging	Het
Ncor1	A	T	11: 62,369,367	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,503,026	V575A	probably damaging	Het
Olfr1031	G	T	2: 85,991,876	V20L	probably benign	Het
Olfr1351	T	A	10: 79,018,009	I229N	probably damaging	Het
Olfr1387	T	C	11: 49,459,691	F4S	probably benign	Het
Osbpl5	A	G	7: 143,693,861	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,756,587	D93V	probably damaging	Het
Ppef2	T	A	5: 92,238,887	D397V	probably benign	Het
Ppfia4	G	A	1: 134,317,956	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,502,576	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622	N104K	probably benign	Het
Sars	A	G	3: 108,435,905	L90P	probably benign	Het
Scaf8	T	A	17: 3,171,135	I299N	unknown	Het
Sh3bp2	C	T	5: 34,559,633	P463S	probably benign	Het
Slc12a3	A	G	8: 94,348,580	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,790,677	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,480,900	Y35C	possibly damaging	Het
Susd4	A	G	1: 182,895,197		probably null	Het
Taar7f	G	A	10: 24,049,829	R107K	probably benign	Het
Tarm1	T	C	7: 3,495,941	T237A	probably benign	Het
Tshr	C	A	12: 91,537,665	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,825,579		probably null	Het
Unc13b	T	C	4: 43,174,920	V1916A	unknown	Het
Unc45b	A	G	11: 82,919,736	D274G	probably damaging	Het
Vmn1r230	T	A	17: 20,847,342	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,555,070	Q132K		Het
Zbtb20	A	G	16: 43,609,797	S151G	possibly damaging	Het
Zbtb22	A	C	17: 33,917,876	T332P	probably damaging	Het
Zc3h6	A	G	2: 129,017,361	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,542,352	V263A	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
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'- TGTGGACTTAGCAGATGCCTG -3'
(R):5'- CCCAACTTTTGTATGTACAGGGTG -3'

Sequencing Primer
(F):5'- CTGCCCCATTGATGAAAGTG -3'
(R):5'- ATGTACAGGGTGCAGTTTCC -3'

Posted On

2022-10-06