Mutagenetix > Incidental Mutation

Incidental Mutation 'R6862:Hdgfl2'

535724

Institutional Source

Beutler Lab

Gene Symbol

Hdgfl2

Ensembl Gene

ENSMUSG00000002833

Gene Name

HDGF like 2

Synonyms

HRP-2, Hdgfrp2

MMRRC Submission

045026-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56386634-56407607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56406211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 533 (A533E)

Ref Sequence

ENSEMBL: ENSMUSP00000152948 (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: A532E

SMART Domains

Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833
AA Change: A532E

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

probably damaging
Transcript: ENSMUST00000225843
AA Change: A542E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226053
AA Change: A533E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (57/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,891,949 (GRCm39)		probably benign	Het
Adgra2	T	A	8: 27,603,465 (GRCm39)	C417S	probably damaging	Het
Adgra2	C	A	8: 27,603,464 (GRCm39)	H416Q	probably benign	Het
Aff3	C	A	1: 38,445,578 (GRCm39)	R307L	possibly damaging	Het
Arhgap17	T	C	7: 122,921,124 (GRCm39)	D121G	probably damaging	Het
Ascc3	G	T	10: 50,725,742 (GRCm39)	R2155I	probably null	Het
Ccdc115	C	T	1: 34,478,364 (GRCm39)	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,662,038 (GRCm39)	N382S	probably benign	Het
Cct6b	A	T	11: 82,610,785 (GRCm39)	V500E	probably damaging	Het
Cenpo	A	T	12: 4,266,539 (GRCm39)	Y190N	probably damaging	Het
Cfh	T	A	1: 140,030,100 (GRCm39)	K924N	probably damaging	Het
Col4a1	A	G	8: 11,252,926 (GRCm39)		probably benign	Het
Coro1b	T	C	19: 4,200,770 (GRCm39)	V234A	probably benign	Het
Crot	T	C	5: 9,039,641 (GRCm39)	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,274,339 (GRCm39)	H347Q	probably benign	Het
Efcab3	A	T	11: 104,612,284 (GRCm39)	K636*	probably null	Het
Fbn2	T	A	18: 58,257,393 (GRCm39)	I325F	probably benign	Het
Fbxw4	T	A	19: 45,571,187 (GRCm39)	R41S	probably benign	Het
Fn1	T	A	1: 71,653,066 (GRCm39)	I1308F	probably benign	Het
Frem1	C	A	4: 82,930,251 (GRCm39)	E232*	probably null	Het
Gabrg3	T	C	7: 56,423,059 (GRCm39)	Q213R	possibly damaging	Het
Garin3	G	A	11: 46,298,418 (GRCm39)	G574D	possibly damaging	Het
Gsdme	A	T	6: 50,204,378 (GRCm39)	V193E	probably damaging	Het
Hadha	C	A	5: 30,352,977 (GRCm39)		probably null	Het
Hivep2	T	C	10: 14,006,327 (GRCm39)	F975S	probably damaging	Het
Htatip2	T	A	7: 49,420,666 (GRCm39)	S171T	probably benign	Het
Ift57	A	T	16: 49,584,167 (GRCm39)	I307F	possibly damaging	Het
Il22	A	T	10: 118,041,715 (GRCm39)	R110W	probably benign	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif2b	G	A	11: 91,466,741 (GRCm39)	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,515,515 (GRCm39)	I2776S	probably damaging	Het
Ly9	T	C	1: 171,428,723 (GRCm39)	D189G	probably benign	Het
Mal2	T	C	15: 54,451,753 (GRCm39)	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,245,526 (GRCm39)	N240I	probably benign	Het
Msantd5f1	A	G	4: 73,605,621 (GRCm39)	N344S	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nacc1	G	A	8: 85,399,844 (GRCm39)	R458C	probably damaging	Het
Ncapd3	T	C	9: 26,942,105 (GRCm39)	C14R	probably damaging	Het
Obscn	G	T	11: 58,886,279 (GRCm39)		probably benign	Het
Or13c3	A	G	4: 52,855,695 (GRCm39)	F273L	probably benign	Het
Or1j4	A	T	2: 36,740,234 (GRCm39)	M59L	possibly damaging	Het
Or8d23	T	A	9: 38,841,772 (GRCm39)	F102I	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pde4dip	C	A	3: 97,674,340 (GRCm39)	R192L	possibly damaging	Het
Pdlim4	C	A	11: 53,946,674 (GRCm39)	E204D	probably damaging	Het
Phf3	T	C	1: 30,853,063 (GRCm39)	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,985,103 (GRCm39)	L1464P	probably damaging	Het
Psg25	C	T	7: 18,255,323 (GRCm39)	V398I	probably benign	Het
Ptprq	T	A	10: 107,522,086 (GRCm39)	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Tex36	A	G	7: 133,189,002 (GRCm39)	L190P	probably benign	Het
Tk1	A	G	11: 117,707,320 (GRCm39)	C156R	probably damaging	Het
Tmem144	T	A	3: 79,739,406 (GRCm39)	M126L	probably benign	Het
Tmem208	G	A	8: 106,054,862 (GRCm39)		probably null	Het
Trappc13	T	C	13: 104,286,660 (GRCm39)	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,012,960 (GRCm39)	K156N	probably damaging	Het
Trps1	A	G	15: 50,695,001 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,394,757 (GRCm39)	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,932,026 (GRCm39)	D658E	probably benign	Het
Zfyve28	T	G	5: 34,445,449 (GRCm39)	K11N	probably benign	Het
Zp1	C	T	19: 10,893,877 (GRCm39)	V443I	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
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
R8348:Hdgfl2	UTSW	17	56,406,370 (GRCm39)	missense	possibly damaging	0.82
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'- CTCTGCAGGTAACCTCTCAG -3'
(R):5'- AAACATGGCACTGTTCCCCTG -3'

Sequencing Primer
(F):5'- GCAGGTAACCTCTCAGATTCTTCAG -3'
(R):5'- GTGCAGGCAGCCCTCAC -3'

Posted On

2018-10-18