Mutagenetix > Incidental Mutation

Incidental Mutation 'R4682:Hdgfl1'

350087

Institutional Source

Beutler Lab

Gene Symbol

Hdgfl1

Ensembl Gene

ENSMUSG00000045835

Gene Name

HDGF like 1

Synonyms

HRP-1, Pwwp1, Hdgfrp1

MMRRC Submission

041934-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4682 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26952156-26954148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26953230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 281 (E281G)

Ref Sequence

ENSEMBL: ENSMUSP00000057557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055915]

AlphaFold

Q2VPR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055915
AA Change: E281G

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

SMART Domains

Protein: ENSMUSP00000057557
Gene: ENSMUSG00000045835
AA Change: E281G

Domain	Start	End	E-Value	Type
Pfam:PWWP	9	85	3.1e-15	PFAM
low complexity region	121	150	N/A	INTRINSIC
low complexity region	181	206	N/A	INTRINSIC
low complexity region	233	246	N/A	INTRINSIC
low complexity region	251	269	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224024

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,505,925 (GRCm39)	V637A	probably benign	Het
Aurkc	G	A	7: 6,998,538 (GRCm39)	V33M	probably null	Het
Crybg2	CTTCCAGAGCCATGGACCCATCTTTTCCA	CTTCCA	4: 133,800,029 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,898,961 (GRCm39)	S810R	probably benign	Het
Dpm2	C	T	2: 32,462,290 (GRCm39)		probably benign	Het
Fgb	A	T	3: 82,950,572 (GRCm39)	F394Y	probably benign	Het
Fry	A	G	5: 150,346,219 (GRCm39)	Y1576C	probably damaging	Het
Gabra4	T	C	5: 71,815,152 (GRCm39)	M1V	probably null	Het
Grhl1	T	G	12: 24,658,432 (GRCm39)	V359G	probably benign	Het
Hdac5	T	C	11: 102,097,456 (GRCm39)	S158G	probably null	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Inpp1	T	C	1: 52,833,760 (GRCm39)	N112S	probably benign	Het
Itih1	C	A	14: 30,659,800 (GRCm39)	A279S	probably damaging	Het
Mad1l1	A	T	5: 140,286,007 (GRCm39)	M296K	possibly damaging	Het
Mark4	T	C	7: 19,179,097 (GRCm39)		probably null	Het
Mrpl48	T	A	7: 100,198,576 (GRCm39)	D192V	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nckap5	A	T	1: 126,030,279 (GRCm39)		probably null	Het
Nlrp4d	T	C	7: 10,108,879 (GRCm39)	T731A	noncoding transcript	Het
Or4d6	T	C	19: 12,086,049 (GRCm39)	Y287C	probably damaging	Het
Pcyt1b	C	A	X: 92,789,970 (GRCm39)	P318H	probably damaging	Het
Plekhm3	T	C	1: 64,977,086 (GRCm39)	D128G	possibly damaging	Het
Ppp1r9a	A	G	6: 4,905,477 (GRCm39)	T11A	possibly damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rnf138	T	A	18: 21,143,791 (GRCm39)	Y112N	probably damaging	Het
Scn9a	A	T	2: 66,377,362 (GRCm39)	V442E	probably benign	Het
Slc36a4	C	A	9: 15,638,144 (GRCm39)	S190*	probably null	Het
Slc46a1	A	G	11: 78,359,502 (GRCm39)	K378R	possibly damaging	Het
Snai2	T	C	16: 14,526,150 (GRCm39)	V267A	probably benign	Het
Srrm2	T	A	17: 24,034,666 (GRCm39)	S533T	probably benign	Het
St6galnac4	T	A	2: 32,484,111 (GRCm39)	M103K	probably damaging	Het
Tap2	C	A	17: 34,433,006 (GRCm39)	Y429*	probably null	Het
Traf7	T	C	17: 24,732,348 (GRCm39)	K159E	probably damaging	Het
Zfp111	T	G	7: 23,898,563 (GRCm39)	K349N	probably damaging	Het
Zfp462	A	G	4: 55,011,376 (GRCm39)	Y1114C	probably damaging	Het

Other mutations in Hdgfl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02634:Hdgfl1	APN	13	26,953,786 (GRCm39)	missense	probably benign	0.01
IGL02676:Hdgfl1	APN	13	26,953,348 (GRCm39)	missense	possibly damaging	0.91
R0226:Hdgfl1	UTSW	13	26,953,979 (GRCm39)	missense	probably benign	0.09
R0648:Hdgfl1	UTSW	13	26,953,836 (GRCm39)	missense	probably damaging	1.00
R2295:Hdgfl1	UTSW	13	26,953,345 (GRCm39)	missense	possibly damaging	0.53
R2518:Hdgfl1	UTSW	13	26,953,732 (GRCm39)	missense	probably benign	0.10
R6352:Hdgfl1	UTSW	13	26,953,733 (GRCm39)	missense	probably benign	0.04
R6419:Hdgfl1	UTSW	13	26,954,075 (GRCm39)	start gained	probably benign
R8223:Hdgfl1	UTSW	13	26,954,047 (GRCm39)	missense	probably damaging	1.00
R8817:Hdgfl1	UTSW	13	26,954,068 (GRCm39)	missense	probably damaging	0.99
R8874:Hdgfl1	UTSW	13	26,954,007 (GRCm39)	missense	probably damaging	1.00
R9036:Hdgfl1	UTSW	13	26,953,428 (GRCm39)	missense	probably benign
R9559:Hdgfl1	UTSW	13	26,953,239 (GRCm39)	missense	probably damaging	1.00
R9560:Hdgfl1	UTSW	13	26,953,239 (GRCm39)	missense	probably damaging	1.00
R9561:Hdgfl1	UTSW	13	26,953,239 (GRCm39)	missense	probably damaging	1.00
R9665:Hdgfl1	UTSW	13	26,953,812 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGGGTGGTCACTACTTAAGC -3'
(R):5'- TGAAGAGCCTCATTGTCCTCTC -3'

Sequencing Primer
(F):5'- GGTCACTACTTAAGCCACAAAGTTG -3'
(R):5'- AGAGCCTCATTGTCCTCTCAAACG -3'

Posted On

2015-10-08