Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01962:Hmx3'

182444

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: 0.800) question?

Stock #

IGL01962

Quality Score

Status

Chromosome

Chromosomal Location

131144596-131146654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131146000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 236 (R236H)

Ref Sequence

ENSEMBL: ENSMUSP00000039018 (fasta)

Gene Model

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

AlphaFold

P42581

Predicted Effect

probably damaging
Transcript: ENSMUST00000046093
AA Change: R236H

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

SMART Domains

Protein: ENSMUSP00000039018
Gene: ENSMUSG00000040148
AA Change: R236H

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 benign
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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,324,514 (GRCm39)	F253S	probably benign	Het
AI429214	T	A	8: 37,461,383 (GRCm39)	I177N	probably damaging	Het
Astn1	C	A	1: 158,496,201 (GRCm39)	T1077K	probably damaging	Het
Asxl3	A	T	18: 22,655,502 (GRCm39)	I1171L	probably benign	Het
Cdca2	A	T	14: 67,943,172 (GRCm39)	S206T	probably damaging	Het
Chd3	T	C	11: 69,248,319 (GRCm39)	M858V	possibly damaging	Het
Cyp2j12	C	T	4: 95,987,999 (GRCm39)	A464T	probably benign	Het
Fryl	A	T	5: 73,190,134 (GRCm39)	D2787E	possibly damaging	Het
Il1rap	T	A	16: 26,529,318 (GRCm39)	C330*	probably null	Het
Klrc1	A	T	6: 129,655,865 (GRCm39)	N3K	probably damaging	Het
Nars1	A	G	18: 64,643,554 (GRCm39)	F142L	probably benign	Het
Nipal1	A	G	5: 72,825,401 (GRCm39)	S365G	possibly damaging	Het
Or1n1	T	A	2: 36,749,787 (GRCm39)	H191L	probably benign	Het
Or2ag15	G	A	7: 106,340,991 (GRCm39)	T50I	probably benign	Het
Or51s1	T	G	7: 102,559,054 (GRCm39)		probably benign	Het
Or8k17	C	A	2: 86,066,456 (GRCm39)	R234M	probably damaging	Het
Pcdhb4	A	G	18: 37,442,057 (GRCm39)	T456A	possibly damaging	Het
Pcdhb5	G	A	18: 37,454,093 (GRCm39)	D158N	probably damaging	Het
Pcsk2	C	T	2: 143,655,552 (GRCm39)	Q579*	probably null	Het
Phactr4	G	A	4: 132,091,086 (GRCm39)	R577W	probably damaging	Het
Rbms3	T	C	9: 116,524,879 (GRCm39)		probably benign	Het
Rxfp1	T	G	3: 79,594,175 (GRCm39)	D73A	probably damaging	Het
Scmh1	A	T	4: 120,340,781 (GRCm39)		probably benign	Het
Syk	T	G	13: 52,764,993 (GRCm39)	L40R	probably damaging	Het
Tcn2	T	C	11: 3,875,072 (GRCm39)	N153S	probably benign	Het
Tnks	A	G	8: 35,336,678 (GRCm39)	L502P	probably damaging	Het
Vmn2r111	A	G	17: 22,767,265 (GRCm39)	V744A	possibly damaging	Het

Other mutations in Hmx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02731:Hmx3	APN	7	131,145,692 (GRCm39)	splice site	probably null
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

2014-05-07