Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02634:Hdgfl1'

301435

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hdgfl1

Ensembl Gene

ENSMUSG00000045835

Gene Name

HDGF like 1

Synonyms

HRP-1, Pwwp1, Hdgfrp1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02634

Quality Score

Status

Chromosome

Chromosomal Location

26952156-26954148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26953786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 96 (S96P)

Ref Sequence

ENSEMBL: ENSMUSP00000057557 (fasta)

Gene Model

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

AlphaFold

Q2VPR5

Predicted Effect

probably benign
Transcript: ENSMUST00000055915
AA Change: S96P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057557
Gene: ENSMUSG00000045835
AA Change: S96P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,683,548 (GRCm39)	C943*	probably null	Het
Arhgef28	A	T	13: 98,187,566 (GRCm39)	V243D	probably benign	Het
Arrdc3	T	A	13: 81,038,884 (GRCm39)	I62K	probably damaging	Het
Atm	T	C	9: 53,427,863 (GRCm39)	T416A	probably benign	Het
AW209491	A	G	13: 14,812,268 (GRCm39)	T374A	probably damaging	Het
Brcc3	T	C	X: 74,479,704 (GRCm39)		probably benign	Het
Ccdc181	T	G	1: 164,107,514 (GRCm39)	S66A	probably benign	Het
Ccdc62	T	C	5: 124,092,320 (GRCm39)	I435T	probably benign	Het
Cdc14b	C	A	13: 64,364,117 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,477 (GRCm39)	S48P	probably damaging	Het
Ciita	C	A	16: 10,326,577 (GRCm39)	S253Y	probably damaging	Het
Dock7	C	T	4: 98,877,533 (GRCm39)	R1005H	probably damaging	Het
Dsg4	A	T	18: 20,591,637 (GRCm39)	I459F	probably benign	Het
Enpep	T	C	3: 129,103,506 (GRCm39)	E361G	probably damaging	Het
Fblim1	T	C	4: 141,310,422 (GRCm39)	D280G	probably benign	Het
Fignl1	G	A	11: 11,752,756 (GRCm39)	R100*	probably null	Het
Ggcx	G	T	6: 72,395,286 (GRCm39)	A126S	probably damaging	Het
Iqgap2	G	A	13: 95,764,622 (GRCm39)	L1541F	probably damaging	Het
Itga8	T	C	2: 12,145,289 (GRCm39)	E888G	possibly damaging	Het
Kank4	T	A	4: 98,667,064 (GRCm39)	Q461L	probably benign	Het
Klhl20	C	T	1: 160,925,935 (GRCm39)	V438M	probably damaging	Het
Klrc3	A	T	6: 129,620,171 (GRCm39)	S27R	probably damaging	Het
Ksr2	T	C	5: 117,901,394 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,389,938 (GRCm39)	S1829N	probably benign	Het
Obscn	A	G	11: 58,945,611 (GRCm39)	L4585P	probably damaging	Het
Or5p57	T	C	7: 107,665,978 (GRCm39)	N9S	probably benign	Het
Palm3	T	G	8: 84,755,494 (GRCm39)	S335R	probably damaging	Het
Pcsk7	C	T	9: 45,830,560 (GRCm39)	A446V	possibly damaging	Het
Penk	A	G	4: 4,134,065 (GRCm39)	L194P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,403,063 (GRCm39)	F2255S	probably damaging	Het
Plcd3	G	A	11: 102,968,653 (GRCm39)	S31F	probably damaging	Het
Pou2af2	A	G	9: 51,203,055 (GRCm39)	L33P	possibly damaging	Het
Ppp6r2	C	T	15: 89,159,680 (GRCm39)	Q456*	probably null	Het
Rbbp8nl	T	C	2: 179,922,688 (GRCm39)	D235G	probably benign	Het
Ror1	T	A	4: 100,283,307 (GRCm39)	N457K	probably benign	Het
Rpgrip1l	C	A	8: 91,951,972 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 141,595,787 (GRCm39)	F148L	probably benign	Het
Slc45a2	A	T	15: 11,023,440 (GRCm39)	H348L	probably benign	Het
Smg8	C	T	11: 86,977,498 (GRCm39)	A28T	probably benign	Het
Snx14	A	G	9: 88,285,356 (GRCm39)	I436T	probably damaging	Het
Synj2	G	A	17: 6,080,035 (GRCm39)	R1088H	probably damaging	Het
Tubb6	T	C	18: 67,535,366 (GRCm39)	Y422H	probably damaging	Het
Unc13a	T	A	8: 72,108,345 (GRCm39)	I503F	probably benign	Het
Unc13d	A	G	11: 115,961,382 (GRCm39)		probably benign	Het
Zp1	T	C	19: 10,896,871 (GRCm39)		probably benign	Het

Other mutations in Hdgfl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4682:Hdgfl1	UTSW	13	26,953,230 (GRCm39)	missense	possibly damaging	0.72
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

Posted On

2015-04-16