Mutagenetix > Incidental Mutation

Incidental Mutation 'R8348:Hdgfl2'

660465

Institutional Source

Beutler Lab

Gene Symbol

Hdgfl2

Ensembl Gene

ENSMUSG00000002833

Gene Name

HDGF like 2

Synonyms

HRP-2, Hdgfrp2

MMRRC Submission

067732-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R8348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56386634-56407607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56406370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 595 (E595G)

Ref Sequence

ENSEMBL: ENSMUSP00000153249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000002911] [ENSMUST00000190703] [ENSMUST00000225843] [ENSMUST00000226053]

AlphaFold

Q3UMU9

Predicted Effect

probably benign
Transcript: ENSMUST00000002908

SMART Domains

Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
internal_repeat_2	74	335	9.44e-7	PROSPERO
internal_repeat_1	103	467	2.72e-12	PROSPERO
internal_repeat_2	343	701	9.44e-7	PROSPERO
internal_repeat_1	598	1090	2.72e-12	PROSPERO
low complexity region	1124	1136	N/A	INTRINSIC
Pfam:Perilipin	1144	1385	2.3e-22	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000002911
AA Change: E585G

SMART Domains

Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833
AA Change: E585G

Domain	Start	End	E-Value	Type
PWWP	5	62	1.78e-19	SMART
low complexity region	90	109	N/A	INTRINSIC
low complexity region	127	136	N/A	INTRINSIC
low complexity region	137	153	N/A	INTRINSIC
low complexity region	163	175	N/A	INTRINSIC
low complexity region	181	196	N/A	INTRINSIC
low complexity region	212	243	N/A	INTRINSIC
low complexity region	252	272	N/A	INTRINSIC
low complexity region	273	300	N/A	INTRINSIC
low complexity region	301	311	N/A	INTRINSIC
coiled coil region	321	364	N/A	INTRINSIC
low complexity region	398	411	N/A	INTRINSIC
Pfam:LEDGF	468	569	2.8e-31	PFAM
internal_repeat_1	575	644	2.5e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000190703

SMART Domains

Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
internal_repeat_2	74	335	9.44e-7	PROSPERO
internal_repeat_1	103	467	2.72e-12	PROSPERO
internal_repeat_2	343	701	9.44e-7	PROSPERO
internal_repeat_1	598	1090	2.72e-12	PROSPERO
Pfam:Perilipin	1110	1385	1.4e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225843
AA Change: E595G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226053
AA Change: E586G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.0667

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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 (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mice exhibit an increased mean serum alkaline phosphatase level compared to controls. Female mutants exhibited a decreased mean skin fibroblast proliferation rate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	A	G	7: 37,894,384 (GRCm39)	Y139C	possibly damaging	Het
A430033K04Rik	A	G	5: 138,634,514 (GRCm39)	D43G	probably damaging	Het
Actn3	C	A	19: 4,915,361 (GRCm39)	V464L	possibly damaging	Het
Adamts15	C	T	9: 30,813,846 (GRCm39)	R773Q	probably benign	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Arhgef28	G	T	13: 98,190,375 (GRCm39)	P195T	possibly damaging	Het
Axdnd1	A	T	1: 156,245,854 (GRCm39)	D107E	probably benign	Het
Cdh23	C	T	10: 60,167,507 (GRCm39)	V1828M	probably benign	Het
Cep95	A	G	11: 106,704,593 (GRCm39)	T440A	possibly damaging	Het
Ctdp1	G	A	18: 80,493,325 (GRCm39)	A390V	probably benign	Het
Desi2	T	A	1: 178,083,906 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,320,273 (GRCm39)	M3932K	possibly damaging	Het
Dnah8	A	T	17: 30,955,121 (GRCm39)	Q2050L	probably damaging	Het
Etnppl	T	A	3: 130,423,141 (GRCm39)	M274K	probably benign	Het
Farp2	G	T	1: 93,504,614 (GRCm39)		probably null	Het
Fbxo46	G	A	7: 18,870,469 (GRCm39)	G363R	probably damaging	Het
Fiz1	A	G	7: 5,015,909 (GRCm39)	V27A	probably benign	Het
Fndc3b	T	A	3: 27,494,144 (GRCm39)	M994L	probably benign	Het
G3bp1	T	G	11: 55,389,457 (GRCm39)	D384E	possibly damaging	Het
Galnt2	C	T	8: 125,061,025 (GRCm39)	R306*	probably null	Het
Gle1	T	C	2: 29,832,556 (GRCm39)	Y304H	possibly damaging	Het
Gm3415	G	A	5: 146,493,407 (GRCm39)	R84H	probably benign	Het
Gm7694	A	C	1: 170,129,209 (GRCm39)	S107A	possibly damaging	Het
Gpc6	A	G	14: 117,673,232 (GRCm39)	D163G	probably damaging	Het
Gtpbp6	G	A	5: 110,251,892 (GRCm39)	H514Y	possibly damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Hoxc4	T	C	15: 102,943,440 (GRCm39)	C98R	possibly damaging	Het
Hydin	A	T	8: 111,329,878 (GRCm39)	I4871F	possibly damaging	Het
Ifnar1	A	G	16: 91,292,187 (GRCm39)	D176G	probably benign	Het
Inafm1	A	G	7: 16,007,055 (GRCm39)	I54T	probably damaging	Het
Inpp5b	G	A	4: 124,678,967 (GRCm39)	G458D	probably damaging	Het
Irs2	A	T	8: 11,054,974 (GRCm39)	S1153T	probably damaging	Het
Kcnj15	A	G	16: 95,096,609 (GRCm39)	Y77C	probably damaging	Het
Klhl35	C	A	7: 99,121,062 (GRCm39)	D10E	probably damaging	Het
Lef1	A	T	3: 130,906,461 (GRCm39)	M1L	probably benign	Het
Lima1	T	C	15: 99,678,753 (GRCm39)	T403A	probably benign	Het
Magi3	T	A	3: 103,958,531 (GRCm39)	N518I	probably damaging	Het
Mcoln3	T	C	3: 145,836,974 (GRCm39)	C269R	probably damaging	Het
Mis18a	A	T	16: 90,523,919 (GRCm39)	L81*	probably null	Het
Mug2	A	T	6: 122,049,192 (GRCm39)	K903*	probably null	Het
Nhsl3	G	A	4: 129,117,699 (GRCm39)	R322C	probably damaging	Het
Pex6	T	C	17: 47,034,039 (GRCm39)	S656P	probably benign	Het
Pgr	C	A	9: 8,922,602 (GRCm39)	Q591K	probably benign	Het
Phactr3	T	C	2: 177,897,935 (GRCm39)	S50P	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Sipa1l1	T	A	12: 82,443,045 (GRCm39)	N778K	probably benign	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
Slc5a7	A	G	17: 54,583,655 (GRCm39)	V545A	possibly damaging	Het
Snf8	A	G	11: 95,925,877 (GRCm39)	K13R	probably benign	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Tacc2	A	C	7: 130,225,019 (GRCm39)	K568T	possibly damaging	Het
Tnxb	C	A	17: 34,929,102 (GRCm39)	T2715K	possibly damaging	Het
Vegfb	T	C	19: 6,962,856 (GRCm39)	I140V	probably benign	Het
Vmn2r89	A	C	14: 51,692,548 (GRCm39)	D117A	possibly damaging	Het
Vps13c	C	T	9: 67,786,385 (GRCm39)	T284I	possibly damaging	Het
Wnk1	T	C	6: 119,906,960 (GRCm39)		probably null	Het
Wscd2	T	A	5: 113,710,371 (GRCm39)	H298Q	possibly damaging	Het
Zfp69	A	T	4: 120,787,834 (GRCm39)	C494S	probably damaging	Het
Zfp715	T	C	7: 42,949,361 (GRCm39)	T200A	possibly damaging	Het

Other mutations in Hdgfl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01446:Hdgfl2	APN	17	56,404,281 (GRCm39)	missense	possibly damaging	0.94
IGL01486:Hdgfl2	APN	17	56,405,733 (GRCm39)	missense	possibly damaging	0.84
IGL02977:Hdgfl2	APN	17	56,406,319 (GRCm39)	missense	possibly damaging	0.71
IGL03196:Hdgfl2	APN	17	56,400,607 (GRCm39)	missense	probably benign	0.40
IGL03368:Hdgfl2	APN	17	56,386,746 (GRCm39)	utr 5 prime	probably benign
R0325:Hdgfl2	UTSW	17	56,406,181 (GRCm39)	missense	possibly damaging	0.95
R0635:Hdgfl2	UTSW	17	56,403,057 (GRCm39)	missense	probably damaging	0.99
R1914:Hdgfl2	UTSW	17	56,403,978 (GRCm39)	missense	probably damaging	1.00
R1927:Hdgfl2	UTSW	17	56,406,874 (GRCm39)	missense	possibly damaging	0.92
R2157:Hdgfl2	UTSW	17	56,405,691 (GRCm39)	missense	possibly damaging	0.46
R2337:Hdgfl2	UTSW	17	56,403,987 (GRCm39)	missense	possibly damaging	0.46
R4884:Hdgfl2	UTSW	17	56,403,265 (GRCm39)	missense	possibly damaging	0.91
R5093:Hdgfl2	UTSW	17	56,406,217 (GRCm39)	missense	possibly damaging	0.92
R5510:Hdgfl2	UTSW	17	56,389,118 (GRCm39)	missense	possibly damaging	0.77
R6862:Hdgfl2	UTSW	17	56,406,211 (GRCm39)	missense	probably damaging	0.97
R7180:Hdgfl2	UTSW	17	56,404,532 (GRCm39)	splice site	probably null
R7389:Hdgfl2	UTSW	17	56,406,389 (GRCm39)	critical splice donor site	probably null
R7564:Hdgfl2	UTSW	17	56,406,860 (GRCm39)	missense	unknown
R7921:Hdgfl2	UTSW	17	56,400,724 (GRCm39)	critical splice donor site	probably null
R8168:Hdgfl2	UTSW	17	56,389,282 (GRCm39)	missense	probably damaging	0.98
R8415:Hdgfl2	UTSW	17	56,400,712 (GRCm39)	missense	probably benign	0.19
R9070:Hdgfl2	UTSW	17	56,389,371 (GRCm39)	missense	possibly damaging	0.76
R9541:Hdgfl2	UTSW	17	56,405,976 (GRCm39)	missense	unknown
R9657:Hdgfl2	UTSW	17	56,405,978 (GRCm39)	missense	unknown
Z1176:Hdgfl2	UTSW	17	56,404,016 (GRCm39)	missense	probably null
Z1176:Hdgfl2	UTSW	17	56,386,825 (GRCm39)	missense	possibly damaging	0.79
Z1177:Hdgfl2	UTSW	17	56,406,343 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCAACAAGGATGTGATGGCG -3'
(R):5'- CACTCAGCTGGGGTCAAACTTAC -3'

Sequencing Primer
(F):5'- GAAGGCAGCAGAGGTCTACACC -3'
(R):5'- AAGTGCATATAGGTGCTATGGCCC -3'

Posted On

2021-01-18