Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02166:Hpdl'

282714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hpdl

Ensembl Gene

ENSMUSG00000043155

Gene Name

4-hydroxyphenylpyruvate dioxygenase-like

Synonyms

Gloxd1, A830048M07Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

IGL02166

Quality Score

Status

Chromosome

Chromosomal Location

116677104-116678705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116678149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 104 (V104A)

Ref Sequence

ENSEMBL: ENSMUSP00000062327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055436] [ENSMUST00000102699] [ENSMUST00000155346]

AlphaFold

Q8K248

Predicted Effect

probably damaging
Transcript: ENSMUST00000055436
AA Change: V104A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062327
Gene: ENSMUSG00000043155
AA Change: V104A

Domain	Start	End	E-Value	Type
SCOP:d1cjxa2	3	144	6e-7	SMART
PDB:1T47\|B	4	367	8e-32	PDB
SCOP:d1cjxa2	161	367	5e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102699

SMART Domains

Protein: ENSMUSP00000099760
Gene: ENSMUSG00000028687

Domain	Start	End	E-Value	Type
ENDO3c	107	259	1.46e-52	SMART
FES	260	280	2.16e-5	SMART
Pfam:NUDIX_4	353	463	2.3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151670

Predicted Effect

probably benign
Transcript: ENSMUST00000155346

SMART Domains

Protein: ENSMUSP00000122777
Gene: ENSMUSG00000028687

Domain	Start	End	E-Value	Type
PDB:3N5N\|Y	50	100	3e-20	PDB
SCOP:d1keaa_	59	86	3e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	A	G	13: 63,163,267 (GRCm39)	H96R	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cdh8	T	C	8: 99,917,083 (GRCm39)	D344G	probably damaging	Het
Ciao3	A	G	17: 25,999,294 (GRCm39)	D236G	possibly damaging	Het
Cltc	T	C	11: 86,594,914 (GRCm39)	I1399V	probably benign	Het
Col4a1	A	T	8: 11,294,509 (GRCm39)		probably benign	Het
Crtc3	C	T	7: 80,327,147 (GRCm39)	G60R	probably damaging	Het
Dscaml1	G	A	9: 45,594,999 (GRCm39)	V701M	probably damaging	Het
Eif3b	T	A	5: 140,425,705 (GRCm39)	C632S	possibly damaging	Het
Ephb3	G	A	16: 21,039,499 (GRCm39)	R417Q	probably damaging	Het
Fpr3	T	C	17: 18,190,726 (GRCm39)		probably benign	Het
Ighv1-55	T	C	12: 115,171,840 (GRCm39)	S76G	probably benign	Het
Ikbip	T	C	10: 90,931,652 (GRCm39)	S99P	probably damaging	Het
Lnpk	T	C	2: 74,360,061 (GRCm39)	E318G	probably damaging	Het
Lrrc66	G	A	5: 73,764,634 (GRCm39)	T803M	probably damaging	Het
Nxf2	C	A	X: 133,857,878 (GRCm39)	W89L	possibly damaging	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or5d46	A	T	2: 88,170,022 (GRCm39)	I38F	probably damaging	Het
Or6c3b	T	A	10: 129,527,782 (GRCm39)	I43F	probably benign	Het
Osbp2	A	T	11: 3,667,983 (GRCm39)	C5S	probably damaging	Het
Ovol2	T	C	2: 144,147,650 (GRCm39)	N200S	possibly damaging	Het
Ppp4r1	A	G	17: 66,120,487 (GRCm39)	D207G	probably benign	Het
Prdm11	C	T	2: 92,843,208 (GRCm39)	V84M	probably damaging	Het
Rspo3	T	A	10: 29,411,275 (GRCm39)	E17V	possibly damaging	Het
Scarf2	A	G	16: 17,621,620 (GRCm39)	N357D	probably damaging	Het
Scn9a	A	T	2: 66,323,447 (GRCm39)	D1447E	possibly damaging	Het
Sdad1	G	A	5: 92,439,621 (GRCm39)	T433I	probably benign	Het
Seh1l	A	G	18: 67,918,093 (GRCm39)	N149S	probably damaging	Het
Sigirr	T	C	7: 140,672,140 (GRCm39)	I268M	probably benign	Het
Slc35d2	A	G	13: 64,246,162 (GRCm39)	F282S	probably damaging	Het
Slc4a1	A	T	11: 102,245,159 (GRCm39)	M596K	probably damaging	Het
Spta1	G	A	1: 174,017,797 (GRCm39)	E494K	probably damaging	Het
Stk32b	C	A	5: 37,656,374 (GRCm39)		probably benign	Het
Tex13b	T	C	X: 139,713,475 (GRCm39)	E122G	probably damaging	Het
Tmem35a	A	G	X: 133,205,357 (GRCm39)	N91S	probably damaging	Het
Tmem67	A	G	4: 12,047,313 (GRCm39)	V841A	possibly damaging	Het
Trdv2-1	A	G	14: 54,184,068 (GRCm39)	D100G	probably benign	Het
Tshz3	T	C	7: 36,468,346 (GRCm39)	S112P	probably benign	Het
Tssc4	T	C	7: 142,623,938 (GRCm39)	M82T	probably benign	Het
Ttn	A	G	2: 76,562,723 (GRCm39)	S28744P	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vim	T	C	2: 13,579,405 (GRCm39)	S55P	probably damaging	Het
Zmat5	T	A	11: 4,687,363 (GRCm39)	Y139N	possibly damaging	Het
Zswim2	G	A	2: 83,745,750 (GRCm39)	Q563*	probably null	Het

Other mutations in Hpdl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Hpdl	APN	4	116,678,141 (GRCm39)	missense	possibly damaging	0.78
IGL02818:Hpdl	APN	4	116,677,439 (GRCm39)	missense	probably damaging	1.00
IGL02886:Hpdl	APN	4	116,677,952 (GRCm39)	missense	probably benign
R0403:Hpdl	UTSW	4	116,677,676 (GRCm39)	missense	possibly damaging	0.89
R0605:Hpdl	UTSW	4	116,677,984 (GRCm39)	missense	possibly damaging	0.87
R1565:Hpdl	UTSW	4	116,678,080 (GRCm39)	missense	probably damaging	1.00
R3791:Hpdl	UTSW	4	116,677,729 (GRCm39)	missense	possibly damaging	0.95
R4736:Hpdl	UTSW	4	116,678,221 (GRCm39)	missense	probably damaging	1.00
R4740:Hpdl	UTSW	4	116,678,221 (GRCm39)	missense	probably damaging	1.00
R5681:Hpdl	UTSW	4	116,678,039 (GRCm39)	missense	probably benign	0.40
R5781:Hpdl	UTSW	4	116,677,775 (GRCm39)	missense	probably damaging	1.00
R7427:Hpdl	UTSW	4	116,678,062 (GRCm39)	missense	probably damaging	1.00
R7428:Hpdl	UTSW	4	116,678,062 (GRCm39)	missense	probably damaging	1.00
R9187:Hpdl	UTSW	4	116,678,372 (GRCm39)	missense	probably damaging	1.00
R9417:Hpdl	UTSW	4	116,677,817 (GRCm39)	missense	possibly damaging	0.64
R9777:Hpdl	UTSW	4	116,678,062 (GRCm39)	missense	probably damaging	1.00
Z1088:Hpdl	UTSW	4	116,678,030 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16