Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02731:Hmx3'

305478

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hmx3

Ensembl Gene

ENSMUSG00000040148

Gene Name

H6 homeobox 3

Synonyms

Nkx5-1, Nkx5.1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

IGL02731

Quality Score

Status

Chromosome

Chromosomal Location

131144596-131146654 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 131145692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046093] [ENSMUST00000124096] [ENSMUST00000183219]

AlphaFold

P42581

Predicted Effect

probably null
Transcript: ENSMUST00000046093

SMART Domains

Protein: ENSMUSP00000039018
Gene: ENSMUSG00000040148

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	44	52	N/A	INTRINSIC
low complexity region	57	84	N/A	INTRINSIC
low complexity region	173	208	N/A	INTRINSIC
HOX	227	289	1.78e-23	SMART
low complexity region	315	325	N/A	INTRINSIC
low complexity region	337	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000183219

SMART Domains

Protein: ENSMUSP00000138799
Gene: ENSMUSG00000050100

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
HOX	149	211	1.31e-21	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit hyperactivity and circling behavior, and severe vestibular defects. Mutant females are infertile due to failure of implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	A	T	11: 61,784,302 (GRCm39)	D515E	possibly damaging	Het
Ankrd13b	A	T	11: 77,367,045 (GRCm39)	S9R	probably damaging	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep78	T	A	19: 15,933,670 (GRCm39)	H636L	probably benign	Het
Chd2	A	G	7: 73,143,204 (GRCm39)	V563A	probably damaging	Het
Cndp1	G	T	18: 84,650,083 (GRCm39)	D203E	probably damaging	Het
Col16a1	G	A	4: 129,947,323 (GRCm39)		probably benign	Het
Copa	T	C	1: 171,929,785 (GRCm39)	V284A	possibly damaging	Het
Dlec1	A	G	9: 118,976,188 (GRCm39)	T1656A	probably benign	Het
Dop1a	T	C	9: 86,369,434 (GRCm39)	I89T	probably damaging	Het
Eif2ak4	T	C	2: 118,219,295 (GRCm39)	S36P	probably benign	Het
Ep300	A	T	15: 81,532,615 (GRCm39)	I1618F	unknown	Het
Fan1	G	A	7: 64,022,741 (GRCm39)	L171F	possibly damaging	Het
Fancm	A	G	12: 65,135,079 (GRCm39)	T291A	probably benign	Het
Gm14325	T	C	2: 177,474,779 (GRCm39)	K101R	probably damaging	Het
Htt	G	T	5: 34,961,137 (GRCm39)	V255L	probably benign	Het
L3mbtl3	C	T	10: 26,220,074 (GRCm39)		probably null	Het
Lmbr1l	A	G	15: 98,815,777 (GRCm39)	L9P	probably damaging	Het
Lyzl6	A	T	11: 103,525,903 (GRCm39)	Y72*	probably null	Het
Mib1	A	G	18: 10,800,115 (GRCm39)	E818G	possibly damaging	Het
Neb	T	C	2: 52,050,715 (GRCm39)	T6405A	probably damaging	Het
Npas3	A	G	12: 54,114,578 (GRCm39)	D482G	probably benign	Het
Nuak2	C	A	1: 132,244,095 (GRCm39)	A43E	probably damaging	Het
Or10ag2	G	A	2: 87,249,051 (GRCm39)	V220I	probably benign	Het
Or4a70	T	C	2: 89,323,801 (GRCm39)	Y285C	probably damaging	Het
Or4f4b	A	T	2: 111,313,873 (GRCm39)	I33L	probably benign	Het
Or5an1	T	C	19: 12,261,206 (GRCm39)	S265P	probably damaging	Het
Pde11a	C	A	2: 75,821,583 (GRCm39)	A899S	probably benign	Het
Ppfibp2	A	T	7: 107,345,629 (GRCm39)	I884F	possibly damaging	Het
Pus7l	A	G	15: 94,421,345 (GRCm39)	V655A	probably benign	Het
Rad51ap2	A	G	12: 11,506,897 (GRCm39)	D273G	probably damaging	Het
Rc3h2	T	C	2: 37,272,823 (GRCm39)	D751G	probably benign	Het
Sdk1	C	T	5: 142,158,299 (GRCm39)	A1863V	probably damaging	Het
Spns3	T	C	11: 72,420,403 (GRCm39)	Y361C	probably damaging	Het
Srp72	T	A	5: 77,142,062 (GRCm39)	I372N	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tcf20	A	G	15: 82,737,438 (GRCm39)	S1338P	probably benign	Het
Tcte1	G	A	17: 45,850,812 (GRCm39)	V363I	probably benign	Het
Vmn1r42	T	C	6: 89,822,407 (GRCm39)	K54R	probably benign	Het
Vps13b	A	G	15: 35,917,274 (GRCm39)	N3706S	probably benign	Het
Vwde	T	C	6: 13,192,613 (GRCm39)	Y430C	probably damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het
Zfp959	G	A	17: 56,202,956 (GRCm39)		probably benign	Het

Other mutations in Hmx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:Hmx3	APN	7	131,146,000 (GRCm39)	missense	probably damaging	1.00
gehring	UTSW	7	131,146,057 (GRCm39)	nonsense	probably null
R0924:Hmx3	UTSW	7	131,144,813 (GRCm39)	missense	probably benign	0.00
R0930:Hmx3	UTSW	7	131,144,813 (GRCm39)	missense	probably benign	0.00
R0960:Hmx3	UTSW	7	131,145,043 (GRCm39)	missense	probably benign	0.18
R1478:Hmx3	UTSW	7	131,145,826 (GRCm39)	missense	probably damaging	1.00
R2126:Hmx3	UTSW	7	131,146,278 (GRCm39)	missense	possibly damaging	0.86
R4667:Hmx3	UTSW	7	131,146,111 (GRCm39)	missense	possibly damaging	0.91
R5267:Hmx3	UTSW	7	131,145,898 (GRCm39)	missense	probably benign	0.15
R5326:Hmx3	UTSW	7	131,146,146 (GRCm39)	nonsense	probably null
R5386:Hmx3	UTSW	7	131,146,033 (GRCm39)	missense	probably damaging	1.00
R5779:Hmx3	UTSW	7	131,146,057 (GRCm39)	nonsense	probably null
R6326:Hmx3	UTSW	7	131,144,734 (GRCm39)	intron	probably benign
R7944:Hmx3	UTSW	7	131,146,111 (GRCm39)	missense	probably damaging	1.00
R9408:Hmx3	UTSW	7	131,146,102 (GRCm39)	missense	probably damaging	1.00
X0050:Hmx3	UTSW	7	131,145,880 (GRCm39)	missense	probably benign	0.01
Z1177:Hmx3	UTSW	7	131,144,849 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16