Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01462:Hdgf'

88026

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hdgf

Ensembl Gene

ENSMUSG00000004897

Gene Name

heparin binding growth factor

Synonyms

D3Ertd299e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01462

Quality Score

Status

Chromosome

Chromosomal Location

87813844-87823439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87821831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 149 (E149K)

Ref Sequence

ENSEMBL: ENSMUSP00000124803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005017] [ENSMUST00000019854] [ENSMUST00000119968] [ENSMUST00000159492] [ENSMUST00000162631]

AlphaFold

P51859

Predicted Effect

probably benign
Transcript: ENSMUST00000005017
AA Change: E181K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000005017
Gene: ENSMUSG00000004897
AA Change: E181K

Domain	Start	End	E-Value	Type
PWWP	10	67	4.54e-26	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	212	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019854

SMART Domains

Protein: ENSMUSP00000019854
Gene: ENSMUSG00000019710

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119968

SMART Domains

Protein: ENSMUSP00000114111
Gene: ENSMUSG00000019710

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159492
AA Change: E149K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124803
Gene: ENSMUSG00000004897
AA Change: E149K

Domain	Start	End	E-Value	Type
Pfam:PWWP	2	60	1.2e-9	PFAM
low complexity region	77	88	N/A	INTRINSIC
low complexity region	180	196	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161616

Predicted Effect

probably benign
Transcript: ENSMUST00000162631

SMART Domains

Protein: ENSMUSP00000123832
Gene: ENSMUSG00000004897

Domain	Start	End	E-Value	Type
Pfam:PWWP	1	60	2.3e-10	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and fertile and display no major morphological, biochemical or behavioral phenotypes except for a significant reduction in rearing activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	A	6: 92,871,247 (GRCm39)	A30S	probably benign	Het
Aspg	A	G	12: 112,089,387 (GRCm39)	T392A	probably benign	Het
Atp8b5	C	A	4: 43,368,010 (GRCm39)	Q878K	possibly damaging	Het
Ccdc85a	G	T	11: 28,526,506 (GRCm39)	H339Q	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cog4	C	T	8: 111,592,717 (GRCm39)	T430M	probably benign	Het
Col6a5	A	G	9: 105,823,274 (GRCm39)	Y28H	unknown	Het
Cth	A	T	3: 157,610,804 (GRCm39)	Y343N	probably damaging	Het
Dctn3	A	T	4: 41,719,854 (GRCm39)	L84*	probably null	Het
Epha5	A	T	5: 84,219,092 (GRCm39)	I868N	probably damaging	Het
Ephb2	T	C	4: 136,498,681 (GRCm39)	N133D	possibly damaging	Het
Epor	G	A	9: 21,870,752 (GRCm39)	P376L	probably damaging	Het
Gsdme	A	G	6: 50,204,354 (GRCm39)	V201A	possibly damaging	Het
Lrrfip2	T	C	9: 111,034,917 (GRCm39)		probably null	Het
Ly6g6d	T	C	17: 35,293,226 (GRCm39)	I40V	probably benign	Het
Mlh3	G	A	12: 85,313,510 (GRCm39)	T892I	probably benign	Het
Mmp19	C	T	10: 128,634,011 (GRCm39)	T304I	probably damaging	Het
Mmp28	T	C	11: 83,334,602 (GRCm39)	D384G	possibly damaging	Het
Moxd1	T	C	10: 24,120,286 (GRCm39)		probably null	Het
Mtcl3	T	G	10: 29,024,254 (GRCm39)	L390R	probably damaging	Het
Ncapg	T	C	5: 45,828,477 (GRCm39)	V76A	probably benign	Het
Nos1	C	T	5: 118,005,774 (GRCm39)	R165C	probably benign	Het
Or1e1c	T	C	11: 73,265,578 (GRCm39)	M1T	probably null	Het
Or2a57	A	G	6: 43,212,559 (GRCm39)	T6A	possibly damaging	Het
Pik3c2a	T	A	7: 115,975,485 (GRCm39)	H694L	possibly damaging	Het
Psme2	A	G	14: 55,827,128 (GRCm39)	L60P	probably damaging	Het
Ptpn23	A	G	9: 110,237,175 (GRCm39)	V4A	probably benign	Het
Rgr	G	T	14: 36,766,566 (GRCm39)	T160K	probably damaging	Het
Serpind1	A	G	16: 17,154,787 (GRCm39)	I205V	probably benign	Het
Skap2	T	C	6: 51,898,280 (GRCm39)	Y150C	probably damaging	Het
Srsf9	T	C	5: 115,470,187 (GRCm39)	S122P	probably damaging	Het
Stox1	T	G	10: 62,500,461 (GRCm39)	I700L	probably benign	Het
Tada1	A	G	1: 166,216,294 (GRCm39)	D165G	probably damaging	Het
Traf5	A	G	1: 191,731,828 (GRCm39)	S338P	probably benign	Het
Trim39	G	A	17: 36,574,617 (GRCm39)		probably benign	Het
Wbp2	G	A	11: 115,972,066 (GRCm39)	A130V	possibly damaging	Het
Zcchc17	T	C	4: 130,230,902 (GRCm39)	K96E	probably benign	Het
Zfp800	G	A	6: 28,242,983 (GRCm39)	L661F	possibly damaging	Het

Other mutations in Hdgf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02437:Hdgf	APN	3	87,821,792 (GRCm39)	missense	probably damaging	1.00
IGL03189:Hdgf	APN	3	87,820,735 (GRCm39)	missense	possibly damaging	0.80
R0142:Hdgf	UTSW	3	87,820,416 (GRCm39)	missense	possibly damaging	0.68
R1604:Hdgf	UTSW	3	87,821,347 (GRCm39)	splice site	probably null
R3726:Hdgf	UTSW	3	87,821,804 (GRCm39)	missense	probably benign	0.19
R3923:Hdgf	UTSW	3	87,821,535 (GRCm39)	missense	probably benign	0.11
R4620:Hdgf	UTSW	3	87,821,883 (GRCm39)	missense	possibly damaging	0.81
R4622:Hdgf	UTSW	3	87,821,884 (GRCm39)	missense	possibly damaging	0.53
R7562:Hdgf	UTSW	3	87,813,993 (GRCm39)	missense	possibly damaging	0.89

Posted On

2013-11-18