Mutagenetix > Incidental Mutation

Incidental Mutation 'R0960:Hmx3'

81827

Institutional Source

Beutler Lab

Gene Symbol

Hmx3

Ensembl Gene

ENSMUSG00000040148

Gene Name

H6 homeobox 3

Synonyms

Nkx5-1, Nkx5.1

MMRRC Submission

039089-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R0960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131144596-131146654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131145043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 118 (Y118H)

Ref Sequence

ENSEMBL: ENSMUSP00000039018 (fasta)

Gene Model

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

AlphaFold

P42581

Predicted Effect

probably benign
Transcript: ENSMUST00000046093
AA Change: Y118H

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039018
Gene: ENSMUSG00000040148
AA Change: Y118H

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

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

98% (49/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,792 (GRCm39)	V256A	probably benign	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4930474N05Rik	C	A	14: 35,818,367 (GRCm39)	H122N	probably benign	Het
Aamp	T	C	1: 74,320,304 (GRCm39)	T341A	possibly damaging	Het
Adam26a	A	T	8: 44,021,800 (GRCm39)	H563Q	probably damaging	Het
Ankrd13a	G	A	5: 114,924,868 (GRCm39)	E118K	probably benign	Het
Asic5	A	G	3: 81,913,847 (GRCm39)	I174V	probably benign	Het
Atad2b	G	A	12: 5,056,593 (GRCm39)		probably benign	Het
Bub1b	A	G	2: 118,437,161 (GRCm39)	I120V	probably benign	Het
Casp8	T	C	1: 58,868,172 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,161,745 (GRCm39)	Y254H	probably benign	Het
Clasp1	T	C	1: 118,479,756 (GRCm39)	I996T	probably benign	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Flnc	A	G	6: 29,441,511 (GRCm39)	D431G	probably damaging	Het
Gm4884	T	A	7: 40,692,232 (GRCm39)	M67K	possibly damaging	Het
Hsf2bp	C	T	17: 32,226,743 (GRCm39)	R204H	probably damaging	Het
Il12b	G	T	11: 44,299,315 (GRCm39)	C128F	probably damaging	Het
Ints6	T	C	14: 62,947,015 (GRCm39)	M317V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kif27	T	C	13: 58,471,781 (GRCm39)	E769G	probably damaging	Het
Kif28	G	A	1: 179,523,370 (GRCm39)	Q987*	probably null	Het
Klhdc3	T	C	17: 46,987,444 (GRCm39)	H330R	possibly damaging	Het
Leo1	G	A	9: 75,352,522 (GRCm39)	E22K	probably benign	Het
Lpcat2	C	T	8: 93,596,338 (GRCm39)	T125M	probably benign	Het
Map1a	A	G	2: 121,132,124 (GRCm39)	Y742C	probably benign	Het
Mllt6	C	T	11: 97,555,772 (GRCm39)		probably benign	Het
Mpp2	A	G	11: 101,952,411 (GRCm39)	V354A	possibly damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myo10	A	G	15: 25,801,275 (GRCm39)	E1488G	probably damaging	Het
Neb	A	G	2: 52,102,995 (GRCm39)	V4461A	probably benign	Het
Nudcd1	G	T	15: 44,291,047 (GRCm39)		probably benign	Het
Or10ag59	T	C	2: 87,406,279 (GRCm39)	Y284H	probably benign	Het
Or2w1b	A	C	13: 21,300,435 (GRCm39)	D191A	possibly damaging	Het
Pde1a	G	A	2: 79,695,378 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,471,303 (GRCm39)		probably benign	Het
Selenoo	T	G	15: 88,980,957 (GRCm39)	I432S	probably benign	Het
Sh3gl2	A	T	4: 85,295,717 (GRCm39)	I140F	probably damaging	Het
Svopl	G	T	6: 37,993,992 (GRCm39)	Y346*	probably null	Het
Tbc1d17	C	T	7: 44,497,852 (GRCm39)		probably benign	Het
Tlr3	A	C	8: 45,850,452 (GRCm39)	I815S	probably damaging	Het
Tmem25	T	A	9: 44,706,809 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,008,650 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,661,421 (GRCm39)		probably benign	Het
Txndc11	A	T	16: 10,909,453 (GRCm39)	D364E	probably benign	Het
Unc5cl	G	T	17: 48,766,624 (GRCm39)		probably benign	Het
Vmn1r13	A	G	6: 57,186,996 (GRCm39)	M52V	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTTTGAGCCCCGTAGTTGAGTTCC -3'
(R):5'- ACCAAAACTCTGGTTGGCAGGTG -3'

Sequencing Primer
(F):5'- TCAGGAACCTGCTCAACGG -3'
(R):5'- TGTCGGGGCATCCCTAAC -3'

Posted On

2013-11-08