Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02036:Hdx'

184519

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hdx

Ensembl Gene

ENSMUSG00000034551

Gene Name

highly divergent homeobox

Synonyms

D030011N01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02036

Quality Score

Status

Chromosome

Chromosomal Location

110484901-110606908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110569564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 342 (T342S)

Ref Sequence

ENSEMBL: ENSMUSP00000109049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038472] [ENSMUST00000113422]

AlphaFold

Q14B70

Predicted Effect

probably benign
Transcript: ENSMUST00000038472
AA Change: T284S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043482
Gene: ENSMUSG00000034551
AA Change: T284S

Domain	Start	End	E-Value	Type
low complexity region	347	361	N/A	INTRINSIC
HOX	379	445	7.53e-3	SMART
low complexity region	526	541	N/A	INTRINSIC
coiled coil region	543	570	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113422
AA Change: T342S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109049
Gene: ENSMUSG00000034551
AA Change: T342S

Domain	Start	End	E-Value	Type
HOX	1	66	3.34e-2	SMART
low complexity region	405	419	N/A	INTRINSIC
HOX	437	503	7.53e-3	SMART
low complexity region	584	599	N/A	INTRINSIC
coiled coil region	601	628	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [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
Cep290	T	A	10: 100,393,962 (GRCm39)	C2056*	probably null	Het
Cyp2c38	T	A	19: 39,448,760 (GRCm39)	D143V	probably null	Het
Ddx10	T	C	9: 53,115,483 (GRCm39)	K617R	probably benign	Het
Dgat2l6	T	A	X: 99,589,199 (GRCm39)	I336N	probably damaging	Het
Dop1a	A	G	9: 86,413,818 (GRCm39)	I1906M	probably benign	Het
Dpep3	T	G	8: 106,700,417 (GRCm39)	T430P	probably benign	Het
Dph1	T	C	11: 75,074,991 (GRCm39)		probably null	Het
Epha7	T	C	4: 28,950,509 (GRCm39)	S775P	probably damaging	Het
F5	A	G	1: 164,010,571 (GRCm39)		probably benign	Het
Fcgbpl1	G	A	7: 27,836,950 (GRCm39)	V290M	possibly damaging	Het
Inpp4a	T	C	1: 37,416,650 (GRCm39)		probably benign	Het
Itgad	A	G	7: 127,788,993 (GRCm39)	T515A	possibly damaging	Het
Kcnc2	T	A	10: 112,291,831 (GRCm39)	S340T	possibly damaging	Het
Krba1	C	T	6: 48,392,576 (GRCm39)	T830I	possibly damaging	Het
Lrch1	G	A	14: 75,032,733 (GRCm39)		probably benign	Het
Mag	C	T	7: 30,607,877 (GRCm39)	V295M	probably damaging	Het
Mmp16	T	A	4: 18,093,371 (GRCm39)	D375E	probably benign	Het
Or2h2	A	G	17: 37,396,559 (GRCm39)	F166S	probably damaging	Het
Or2t44	T	C	11: 58,677,923 (GRCm39)	Y288H	probably damaging	Het
Or4c111	A	G	2: 88,843,823 (GRCm39)	V195A	probably benign	Het
Pcyox1l	T	C	18: 61,840,607 (GRCm39)		probably benign	Het
Secisbp2l	A	G	2: 125,600,127 (GRCm39)	S403P	probably benign	Het
Sh3tc2	T	A	18: 62,147,978 (GRCm39)	H1229Q	probably benign	Het
Svep1	A	C	4: 58,088,245 (GRCm39)	W1735G	possibly damaging	Het
Tbxas1	T	A	6: 38,998,091 (GRCm39)	C220S	probably benign	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Ywhag	A	G	5: 135,940,348 (GRCm39)	V82A	probably benign	Het

Other mutations in Hdx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Hdx	APN	X	110,492,578 (GRCm39)	missense	probably benign	0.21
IGL02436:Hdx	APN	X	110,510,445 (GRCm39)	missense	probably damaging	0.98
R2850:Hdx	UTSW	X	110,502,720 (GRCm39)	missense	probably benign

Posted On

2014-05-07