Mutagenetix > Incidental Mutation

Incidental Mutation 'R8886:Zhx3'

677307

Institutional Source

Beutler Lab

Gene Symbol

Zhx3

Ensembl Gene

ENSMUSG00000035877

Gene Name

zinc fingers and homeoboxes 3

Synonyms

Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik

MMRRC Submission

068691-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160612367-160714910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160623216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 317 (N317S)

Ref Sequence

ENSEMBL: ENSMUSP00000105086 (fasta)

Gene Model

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

AlphaFold

Q8C0Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000103111
AA Change: N317S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: N317S

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: N317S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: N317S

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: N317S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: N317S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (72/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,882,349 (GRCm39)	N14I	possibly damaging	Het
1700066M21Rik	T	A	1: 57,422,008 (GRCm39)	I128N	probably damaging	Het
4930407I10Rik	G	T	15: 81,950,051 (GRCm39)	S1316I	probably damaging	Het
Abcc9	T	C	6: 142,546,420 (GRCm39)		probably benign	Het
Adgrb3	A	G	1: 25,150,928 (GRCm39)	S1102P	probably damaging	Het
BC061237	A	C	14: 44,741,691 (GRCm39)	I145L	probably benign	Het
Birc7	A	T	2: 180,574,786 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,319,806 (GRCm39)	G393S		Het
Ccdc112	C	T	18: 46,444,826 (GRCm39)	G18R	unknown	Het
Cryzl1	T	A	16: 91,492,188 (GRCm39)	T213S	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Cyp4v3	A	T	8: 45,774,785 (GRCm39)	L123*	probably null	Het
Dmpk	C	A	7: 18,825,886 (GRCm39)		probably benign	Het
Dnah9	A	T	11: 65,943,840 (GRCm39)	V1932E	probably damaging	Het
Ect2	T	C	3: 27,200,126 (GRCm39)		probably benign	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Fkbp10	A	G	11: 100,312,862 (GRCm39)	E336G	probably damaging	Het
Gnptg	T	C	17: 25,453,628 (GRCm39)	S305G	probably benign	Het
Greb1l	A	T	18: 10,553,843 (GRCm39)	I1615F	probably benign	Het
Gse1	G	A	8: 121,297,470 (GRCm39)	R561Q	unknown	Het
Igkv9-129	T	A	6: 67,817,221 (GRCm39)	Y108*	probably null	Het
Igsf10	T	A	3: 59,237,410 (GRCm39)	T924S	probably benign	Het
Itgb6	A	T	2: 60,458,324 (GRCm39)	C476*	probably null	Het
Itih4	C	T	14: 30,617,482 (GRCm39)	Q601*	probably null	Het
Itpk1	G	A	12: 102,550,604 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jakmip3	G	A	7: 138,609,171 (GRCm39)	E92K	probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Klk1b5	T	A	7: 43,869,192 (GRCm39)	M122K	probably damaging	Het
Krt84	A	G	15: 101,437,221 (GRCm39)	I314T	possibly damaging	Het
Lama2	A	T	10: 27,245,157 (GRCm39)		probably benign	Het
Lmntd1	T	C	6: 145,363,152 (GRCm39)	T270A	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh11	A	G	16: 14,052,278 (GRCm39)	I396T		Het
Naprt	T	C	15: 75,765,433 (GRCm39)	T136A	probably damaging	Het
Nbea	T	C	3: 55,966,148 (GRCm39)	N438S	probably damaging	Het
Nckap1	C	A	2: 80,339,055 (GRCm39)		probably null	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nts	C	T	10: 102,320,868 (GRCm39)	A74T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or8b49	T	G	9: 38,506,446 (GRCm39)	F310V	possibly damaging	Het
Pcp2	A	G	8: 3,675,208 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,343,734 (GRCm39)	S752P	probably benign	Het
Pign	C	T	1: 105,512,779 (GRCm39)	V635I	probably benign	Het
Plekhg3	C	A	12: 76,611,748 (GRCm39)	H342Q	possibly damaging	Het
Ppp4c	A	T	7: 126,386,466 (GRCm39)	I177N	probably damaging	Het
Psmd5	A	G	2: 34,747,755 (GRCm39)	F301L	possibly damaging	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rbm20	A	T	19: 53,801,767 (GRCm39)	I92L	probably benign	Het
Rnf213	A	G	11: 119,364,264 (GRCm39)	D4522G		Het
Robo3	T	C	9: 37,328,768 (GRCm39)	E1276G	probably damaging	Het
Rxrb	T	C	17: 34,256,428 (GRCm39)	F500L	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Scd3	A	G	19: 44,230,276 (GRCm39)	D353G	probably damaging	Het
Sh2d4b	T	C	14: 40,595,946 (GRCm39)		probably benign	Het
Ski	A	T	4: 155,244,016 (GRCm39)	L498Q	probably null	Het
Spocd1	T	A	4: 129,845,631 (GRCm39)	M497K		Het
Sspo	A	G	6: 48,458,201 (GRCm39)	E3299G	possibly damaging	Het
St14	C	A	9: 31,008,420 (GRCm39)	V507F	possibly damaging	Het
Tcf24	G	A	1: 10,037,388 (GRCm39)	T108I	probably benign	Het
Tecta	T	C	9: 42,278,359 (GRCm39)	T1050A	probably benign	Het
Ttc17	T	C	2: 94,205,473 (GRCm39)	D291G	probably benign	Het
Tubgcp2	G	T	7: 139,584,882 (GRCm39)	R518S	probably benign	Het
Ugt2a3	T	C	5: 87,484,358 (GRCm39)	Y222C	probably damaging	Het
Unc5c	C	G	3: 141,509,581 (GRCm39)	A687G	probably benign	Het
Usp42	T	C	5: 143,700,714 (GRCm39)	D1103G	probably damaging	Het
Vmn1r83	A	C	7: 12,055,843 (GRCm39)	D71E	probably benign	Het
Vmn2r3	T	A	3: 64,194,892 (GRCm39)	I9F	possibly damaging	Het
Zfand1	T	C	3: 10,409,862 (GRCm39)	Q160R	probably null	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
R9310:Zhx3	UTSW	2	160,621,393 (GRCm39)	missense	possibly damaging	0.94
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'- CAAGCGGGGTGTTTAGAACTG -3'
(R):5'- CCTGTCTTGCCAGCTGGTATAG -3'

Sequencing Primer
(F):5'- CACAGACTGGATGACTGTATTGAAC -3'
(R):5'- GGTATAGCACAGTTCCTCTCC -3'

Posted On

2021-08-02