Mutagenetix > Incidental Mutation

Incidental Mutation 'R9310:Zhx3'

705444

Institutional Source

Beutler Lab

Gene Symbol

Zhx3

Ensembl Gene

ENSMUSG00000035877

Gene Name

zinc fingers and homeoboxes 3

Synonyms

Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160612367-160714910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 160621393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 925 (W925R)

Ref Sequence

ENSEMBL: ENSMUSP00000099400 (fasta)

Gene Model

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

AlphaFold

Q8C0Q2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103111
AA Change: W925R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: W925R

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

possibly damaging
Transcript: ENSMUST00000103112
AA Change: W925R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: W925R

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

possibly damaging
Transcript: ENSMUST00000109460
AA Change: W925R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: W925R

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: 99.6%
20x: 98.7%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,698,859 (GRCm39)	I83V	possibly damaging	Het
Abcf1	G	A	17: 36,272,621 (GRCm39)	A288V	probably null	Het
Acer1	A	T	17: 57,262,598 (GRCm39)	V184D	probably damaging	Het
Apoh	T	C	11: 108,298,307 (GRCm39)		probably null	Het
Arid1a	T	C	4: 133,413,625 (GRCm39)	Y959C	unknown	Het
Asb3	A	T	11: 30,978,962 (GRCm39)	H84L	probably benign	Het
Atxn1	A	C	13: 45,721,494 (GRCm39)	Y134D	probably damaging	Het
Btbd1	T	C	7: 81,478,985 (GRCm39)	Y52C	probably damaging	Het
Cabp2	A	G	19: 4,136,464 (GRCm39)	D170G	probably damaging	Het
Cacna1a	C	A	8: 85,263,046 (GRCm39)	A407E	probably damaging	Het
Cacna2d4	T	A	6: 119,248,914 (GRCm39)		probably null	Het
Cc2d2a	T	C	5: 43,852,488 (GRCm39)	F404S	probably damaging	Het
Cdh20	T	C	1: 104,875,061 (GRCm39)	M281T	probably damaging	Het
Cfap54	A	T	10: 92,798,177 (GRCm39)	M1694K	unknown	Het
Chd6	G	T	2: 160,881,181 (GRCm39)	T261K	probably damaging	Het
Cnksr1	T	C	4: 133,956,330 (GRCm39)	S585G	probably damaging	Het
Cntnap2	A	T	6: 45,978,281 (GRCm39)	Y312F	probably damaging	Het
Coa7	T	A	4: 108,195,510 (GRCm39)	Y146*	probably null	Het
Col28a1	T	C	6: 8,175,414 (GRCm39)	K145E	unknown	Het
Coq8b	T	A	7: 26,941,486 (GRCm39)	I221N	probably damaging	Het
Cpd	A	T	11: 76,705,607 (GRCm39)	L375*	probably null	Het
Dnah5	T	C	15: 28,448,579 (GRCm39)	F4214S	probably damaging	Het
Dnai3	C	T	3: 145,802,895 (GRCm39)		probably null	Het
Dock2	A	G	11: 34,244,139 (GRCm39)	F1067S	possibly damaging	Het
Dpp6	G	A	5: 27,836,439 (GRCm39)	A310T	probably damaging	Het
Dpp6	C	A	5: 27,930,642 (GRCm39)	L825I	probably benign	Het
Efcab5	A	G	11: 77,004,531 (GRCm39)	V929A	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Espl1	G	A	15: 102,205,285 (GRCm39)		probably null	Het
Firrm	A	G	1: 163,792,089 (GRCm39)	C610R	probably damaging	Het
Gm4847	T	C	1: 166,460,281 (GRCm39)	R402G	probably benign	Het
Grid1	T	C	14: 34,748,762 (GRCm39)	L194S	probably damaging	Het
Heatr1	A	T	13: 12,453,491 (GRCm39)	H2122L	probably benign	Het
Il17b	T	A	18: 61,825,334 (GRCm39)	C123*	probably null	Het
Il17rc	T	C	6: 113,451,210 (GRCm39)	L181P	probably damaging	Het
Inpp5e	T	A	2: 26,287,940 (GRCm39)	I619L	probably benign	Het
Itgax	C	A	7: 127,741,432 (GRCm39)	Y814*	probably null	Het
Marcks	C	T	10: 37,012,487 (GRCm39)	E183K	unknown	Het
Mefv	T	C	16: 3,533,252 (GRCm39)	T340A	probably benign	Het
Mical2	A	G	7: 111,950,920 (GRCm39)	K958R	probably benign	Het
Mrtfb	T	A	16: 13,218,954 (GRCm39)	D533E	probably benign	Het
Mtor	T	A	4: 148,553,834 (GRCm39)	L811Q	probably benign	Het
Myh4	A	G	11: 67,145,570 (GRCm39)	Y1351C	probably damaging	Het
Neb	T	C	2: 52,153,708 (GRCm39)	M2406V	probably benign	Het
Nebl	T	C	2: 17,353,678 (GRCm39)	T214A	probably benign	Het
Nlrx1	A	T	9: 44,164,705 (GRCm39)	I913N	probably damaging	Het
Npr2	G	T	4: 43,632,404 (GRCm39)	A74S	probably benign	Het
Or4c115	T	A	2: 88,928,257 (GRCm39)	S5C	probably damaging	Het
Or6b6	C	A	7: 106,570,678 (GRCm39)	C291F	probably damaging	Het
Or6c88	T	A	10: 129,406,687 (GRCm39)	N54K	probably benign	Het
Pard3b	G	T	1: 62,205,528 (GRCm39)	V441F	probably damaging	Het
Pcsk1	G	A	13: 75,238,191 (GRCm39)	R4K	probably benign	Het
Pisd	G	T	5: 32,894,784 (GRCm39)	N337K	possibly damaging	Het
Pml	T	C	9: 58,156,945 (GRCm39)	K10R	probably benign	Het
Prkci	T	C	3: 31,083,664 (GRCm39)	W132R	probably damaging	Het
Prrc2a	A	T	17: 35,374,975 (GRCm39)	M1225K	probably benign	Het
Prss23	T	C	7: 89,159,142 (GRCm39)	D309G	probably damaging	Het
Pxdn	G	A	12: 30,052,051 (GRCm39)	G743S	probably damaging	Het
Rab29	A	T	1: 131,799,860 (GRCm39)	E145V	probably damaging	Het
Rasef	C	T	4: 73,653,956 (GRCm39)		probably null	Het
Rcbtb1	T	G	14: 59,472,699 (GRCm39)	I496S	probably benign	Het
Rcor1	T	C	12: 111,066,393 (GRCm39)	Y228H		Het
Reep5	C	T	18: 34,490,222 (GRCm39)	V92I	probably damaging	Het
Rfx3	T	C	19: 27,827,329 (GRCm39)	S86G	probably benign	Het
Rptn	T	A	3: 93,304,384 (GRCm39)	D572E	probably benign	Het
Rsl1	A	T	13: 67,324,510 (GRCm39)		probably null	Het
Sbf2	T	C	7: 109,914,292 (GRCm39)	E1630G	possibly damaging	Het
Sele	G	A	1: 163,876,975 (GRCm39)	V84I	probably benign	Het
Serpina1b	T	C	12: 103,698,756 (GRCm39)	D31G	probably benign	Het
Serpina3c	T	C	12: 104,115,813 (GRCm39)	I244V	probably benign	Het
Serpinb6e	A	G	13: 34,017,204 (GRCm39)	V272A	probably benign	Het
Serpinb9b	A	G	13: 33,219,523 (GRCm39)	D150G	probably benign	Het
Sgpp1	T	C	12: 75,769,374 (GRCm39)	T265A	probably benign	Het
Slc9a1	T	A	4: 133,143,681 (GRCm39)	M389K	probably damaging	Het
Slco3a1	A	T	7: 74,204,236 (GRCm39)	C35S	probably damaging	Het
Slco6d1	T	A	1: 98,427,619 (GRCm39)	V650E	possibly damaging	Het
Slit2	T	C	5: 48,349,568 (GRCm39)	V274A	possibly damaging	Het
Snd1	A	G	6: 28,795,936 (GRCm39)	E593G	probably null	Het
Spata2l	C	T	8: 123,960,873 (GRCm39)	V139M	probably benign	Het
Suco	T	C	1: 161,684,427 (GRCm39)	K231R	probably damaging	Het
Tenm3	C	A	8: 49,008,935 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,699,118 (GRCm39)	S2415P	possibly damaging	Het
Traf6	C	A	2: 101,527,072 (GRCm39)	A274D	possibly damaging	Het
Usp14	A	G	18: 9,996,239 (GRCm39)	I447T	possibly damaging	Het
Usp32	G	A	11: 84,942,028 (GRCm39)	L355F	probably benign	Het
Vcpip1	T	C	1: 9,817,927 (GRCm39)	N152S	possibly damaging	Het
Vgf	A	G	5: 137,061,110 (GRCm39)	Q424R	probably benign	Het
Vmn2r84	A	T	10: 130,227,993 (GRCm39)	M81K	possibly damaging	Het
Washc5	G	A	15: 59,218,067 (GRCm39)	A732V	possibly damaging	Het
Xrcc3	T	G	12: 111,771,485 (GRCm39)	D213A	probably damaging	Het
Zeb2	T	C	2: 44,886,988 (GRCm39)	T690A	probably benign	Het
Zfat	G	A	15: 67,956,250 (GRCm39)	S1212L	probably damaging	Het
Zfp623	C	T	15: 75,819,949 (GRCm39)	L302F	probably damaging	Het
Zfp799	A	C	17: 33,039,733 (GRCm39)	C178G	possibly damaging	Het
Zfy1	T	C	Y: 727,634 (GRCm39)	E348G	unknown	Het

Other mutations in Zhx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Zhx3	APN	2	160,622,761 (GRCm39)	missense	probably damaging	0.99
IGL01759:Zhx3	APN	2	160,622,634 (GRCm39)	missense	probably damaging	1.00
IGL02170:Zhx3	APN	2	160,621,718 (GRCm39)	missense	probably damaging	1.00
IGL02550:Zhx3	APN	2	160,623,216 (GRCm39)	missense	probably damaging	1.00
R0497:Zhx3	UTSW	2	160,621,914 (GRCm39)	nonsense	probably null
R0882:Zhx3	UTSW	2	160,622,629 (GRCm39)	missense	probably damaging	1.00
R1396:Zhx3	UTSW	2	160,622,940 (GRCm39)	missense	possibly damaging	0.90
R1587:Zhx3	UTSW	2	160,623,613 (GRCm39)	splice site	probably null
R1646:Zhx3	UTSW	2	160,623,195 (GRCm39)	missense	probably damaging	1.00
R1822:Zhx3	UTSW	2	160,622,275 (GRCm39)	missense	probably benign	0.03
R2322:Zhx3	UTSW	2	160,623,948 (GRCm39)	missense	probably damaging	1.00
R3791:Zhx3	UTSW	2	160,622,368 (GRCm39)	missense	possibly damaging	0.94
R3899:Zhx3	UTSW	2	160,622,371 (GRCm39)	missense	possibly damaging	0.82
R4003:Zhx3	UTSW	2	160,622,809 (GRCm39)	missense	probably damaging	0.96
R4619:Zhx3	UTSW	2	160,623,879 (GRCm39)	missense	probably damaging	0.96
R5307:Zhx3	UTSW	2	160,621,788 (GRCm39)	missense	probably benign	0.02
R5461:Zhx3	UTSW	2	160,621,938 (GRCm39)	missense	probably benign
R5648:Zhx3	UTSW	2	160,623,881 (GRCm39)	missense	probably damaging	1.00
R5952:Zhx3	UTSW	2	160,623,937 (GRCm39)	missense	probably damaging	1.00
R6035:Zhx3	UTSW	2	160,621,463 (GRCm39)	missense	probably benign
R6035:Zhx3	UTSW	2	160,621,463 (GRCm39)	missense	probably benign
R6734:Zhx3	UTSW	2	160,623,640 (GRCm39)	missense	probably damaging	0.99
R6988:Zhx3	UTSW	2	160,621,788 (GRCm39)	missense	probably benign	0.02
R7032:Zhx3	UTSW	2	160,622,898 (GRCm39)	missense	probably damaging	1.00
R7288:Zhx3	UTSW	2	160,623,042 (GRCm39)	missense	probably damaging	1.00
R7348:Zhx3	UTSW	2	160,624,038 (GRCm39)	nonsense	probably null
R7947:Zhx3	UTSW	2	160,623,015 (GRCm39)	missense	probably damaging	1.00
R8101:Zhx3	UTSW	2	160,623,619 (GRCm39)	missense	probably damaging	0.99
R8152:Zhx3	UTSW	2	160,622,695 (GRCm39)	missense	probably benign
R8831:Zhx3	UTSW	2	160,622,691 (GRCm39)	missense	probably benign	0.05
R8886:Zhx3	UTSW	2	160,623,216 (GRCm39)	missense	probably damaging	1.00
R9363:Zhx3	UTSW	2	160,621,785 (GRCm39)	missense	probably benign	0.00
R9422:Zhx3	UTSW	2	160,624,020 (GRCm39)	missense	probably benign	0.00
R9687:Zhx3	UTSW	2	160,623,678 (GRCm39)	missense	probably benign	0.01
RF002:Zhx3	UTSW	2	160,623,726 (GRCm39)	missense	probably damaging	0.98
Z1088:Zhx3	UTSW	2	160,621,675 (GRCm39)	unclassified	probably benign
Z1176:Zhx3	UTSW	2	160,622,980 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCTGCAGTTGGTCTGAATG -3'
(R):5'- TGTGAGGAAGATCTGCAGACCC -3'

Sequencing Primer
(F):5'- CTGAATGCTCTAGAGGTAGCTGTAC -3'
(R):5'- CCTCTGTGATAAGACCCAGATGAGTG -3'

Posted On

2022-03-25