Mutagenetix > Incidental Mutation

Incidental Mutation 'R5779:Hmx3'

446877

Institutional Source

Beutler Lab

Gene Symbol

Hmx3

Ensembl Gene

ENSMUSG00000040148

Gene Name

H6 homeobox 3

Synonyms

Nkx5-1, Nkx5.1

MMRRC Submission

043377-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R5779 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

131144596-131146654 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 131146057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 255 (S255*)

Ref Sequence

ENSEMBL: ENSMUSP00000039018 (fasta)

Gene Model

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

AlphaFold

P42581

Predicted Effect

probably null
Transcript: ENSMUST00000046093
AA Change: S255*

SMART Domains

Protein: ENSMUSP00000039018
Gene: ENSMUSG00000040148
AA Change: S255*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,075,496 (GRCm39)	M1332V	probably benign	Het
Acsbg3	A	T	17: 57,188,061 (GRCm39)	N190Y	probably benign	Het
Afg3l2	T	C	18: 67,573,513 (GRCm39)	K132R	probably null	Het
Antkmt	A	G	17: 26,009,631 (GRCm39)	V194A	probably benign	Het
Arap3	T	C	18: 38,117,418 (GRCm39)	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,542,502 (GRCm39)		probably null	Het
Cdk12	T	A	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Ceacam12	C	A	7: 17,803,079 (GRCm39)	P162T	probably benign	Het
Chrna5	C	A	9: 54,905,388 (GRCm39)	H67N	probably benign	Het
Copb1	T	A	7: 113,818,807 (GRCm39)	D837V	probably damaging	Het
Dcaf5	C	T	12: 80,385,606 (GRCm39)	R840H	probably benign	Het
Ect2l	T	A	10: 18,039,186 (GRCm39)	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,830,249 (GRCm39)	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,243,444 (GRCm39)	N208T	possibly damaging	Het
Ext1	A	G	15: 53,207,949 (GRCm39)	Y271H	probably damaging	Het
Fbxo5	G	A	10: 5,750,303 (GRCm39)	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,844,488 (GRCm39)	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,955,082 (GRCm39)		probably benign	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Gucy1b2	C	A	14: 62,651,750 (GRCm39)	L400F	possibly damaging	Het
Hgd	T	A	16: 37,413,733 (GRCm39)	L24H	probably benign	Het
Ifrd1	A	T	12: 40,253,369 (GRCm39)	F448I	probably damaging	Het
Igfn1	T	A	1: 135,894,578 (GRCm39)	E1996V	probably benign	Het
Itpr1	G	A	6: 108,329,104 (GRCm39)	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,095,515 (GRCm39)	S26P	probably benign	Het
Kctd17	A	T	15: 78,321,333 (GRCm39)		probably benign	Het
Matr3	T	C	18: 35,717,575 (GRCm39)	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,190,825 (GRCm39)	A90V	probably benign	Het
Mrpl20	G	A	4: 155,891,378 (GRCm39)	R34Q	probably damaging	Het
Neb	A	T	2: 52,135,313 (GRCm39)	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,179,650 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,326,652 (GRCm39)	T46S	possibly damaging	Het
Nsd3	G	T	8: 26,172,685 (GRCm39)	E815*	probably null	Het
Nup98	C	A	7: 101,801,568 (GRCm39)	V786L	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,434,520 (GRCm39)	V162A	probably benign	Het
Pcgf2	G	A	11: 97,581,117 (GRCm39)	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318 (GRCm39)	F110L	probably damaging	Het
Relch	T	G	1: 105,615,072 (GRCm39)	N246K	probably damaging	Het
Scfd1	A	G	12: 51,478,312 (GRCm39)	N508S	probably benign	Het
Scn2a	T	C	2: 65,594,827 (GRCm39)	V1892A	probably benign	Het
Sema6a	G	A	18: 47,381,893 (GRCm39)	R885C	probably damaging	Het
Sik2	T	C	9: 50,807,145 (GRCm39)	H755R	probably benign	Het
Slc36a3	A	T	11: 55,026,094 (GRCm39)	Y241*	probably null	Het
Smg5	T	C	3: 88,258,925 (GRCm39)		probably benign	Het
Spag9	A	G	11: 94,005,079 (GRCm39)	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,013,908 (GRCm39)	M53V	probably benign	Het
Tpr	C	T	1: 150,299,292 (GRCm39)	A1090V	probably damaging	Het
Traf5	T	A	1: 191,729,633 (GRCm39)	R473W	probably damaging	Het
Ush2a	T	C	1: 188,175,707 (GRCm39)		probably null	Het
Vit	A	G	17: 78,853,855 (GRCm39)	T34A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GATCATTCTGGAAGAGAGCGACTC -3'
(R):5'- GCAGAGTTCTCGTGGTAGAG -3'

Sequencing Primer
(F):5'- GCGACTCGGAGGAAGGC -3'
(R):5'- CTCGTGGTAGAGGATGGGCAC -3'

Posted On

2016-12-15