Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02818:Hpdl'

360860

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 #

IGL02818

Quality Score

Status

Chromosome

Chromosomal Location

116677104-116678705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116677439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 341 (I341V)

Ref Sequence

ENSEMBL: ENSMUSP00000062327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055436] [ENSMUST00000102699] [ENSMUST00000130359] [ENSMUST00000155346]

AlphaFold

Q8K248

Predicted Effect

probably damaging
Transcript: ENSMUST00000055436
AA Change: I341V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062327
Gene: ENSMUSG00000043155
AA Change: I341V

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

probably benign
Transcript: ENSMUST00000130359

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,519,326 (GRCm39)	F653S	probably benign	Het
Acsm2	A	G	7: 119,172,804 (GRCm39)		probably null	Het
Aldh2	C	T	5: 121,713,188 (GRCm39)	G256D	probably benign	Het
Ankfn1	G	A	11: 89,429,292 (GRCm39)	H31Y	probably benign	Het
BC016579	A	T	16: 45,449,865 (GRCm39)	S184R	probably damaging	Het
Cd101	A	G	3: 100,919,245 (GRCm39)	L619P	probably damaging	Het
Clec14a	A	T	12: 58,314,888 (GRCm39)	C245S	probably damaging	Het
Csmd2	T	C	4: 128,103,521 (GRCm39)	C247R	probably damaging	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Dctn1	T	C	6: 83,169,496 (GRCm39)	S637P	possibly damaging	Het
Dhx40	A	T	11: 86,690,331 (GRCm39)	I230K	probably benign	Het
Dnah7b	T	C	1: 46,329,968 (GRCm39)	Y3271H	probably damaging	Het
Efcab5	A	T	11: 76,996,174 (GRCm39)	I1129N	probably damaging	Het
Gaa	G	T	11: 119,167,674 (GRCm39)	A445S	probably damaging	Het
Gldc	A	G	19: 30,113,909 (GRCm39)	S498P	probably damaging	Het
Gm973	T	C	1: 59,580,634 (GRCm39)		probably null	Het
Il23r	A	G	6: 67,463,078 (GRCm39)		probably null	Het
Kif9	T	A	9: 110,314,217 (GRCm39)	Y76N	probably damaging	Het
Lct	T	G	1: 128,227,905 (GRCm39)	E1196A	probably damaging	Het
Lrrc37a	T	C	11: 103,392,132 (GRCm39)	I1098V	possibly damaging	Het
Mroh1	A	G	15: 76,316,601 (GRCm39)		probably null	Het
Nmrk1	T	C	19: 18,618,623 (GRCm39)	L102P	probably damaging	Het
Nudcd3	A	T	11: 6,100,635 (GRCm39)		probably benign	Het
Ogdh	A	G	11: 6,298,270 (GRCm39)	T603A	probably benign	Het
Or12j2	A	T	7: 139,916,519 (GRCm39)	Y248F	possibly damaging	Het
Or8k38	T	A	2: 86,488,128 (GRCm39)	I225F	probably damaging	Het
Pcsk4	T	C	10: 80,158,626 (GRCm39)	Y542C	probably damaging	Het
Pkd2l2	T	A	18: 34,545,862 (GRCm39)	W88R	probably damaging	Het
Ppp1r1b	C	T	11: 98,242,096 (GRCm39)	T21I	possibly damaging	Het
Srebf2	C	A	15: 82,069,575 (GRCm39)	H706N	probably damaging	Het
Stradb	T	C	1: 59,019,121 (GRCm39)	V14A	probably damaging	Het
Svep1	T	C	4: 58,069,804 (GRCm39)	T2661A	possibly damaging	Het
Tnn	A	T	1: 159,943,848 (GRCm39)	S988R	possibly damaging	Het
Trpm6	C	A	19: 18,843,621 (GRCm39)	Q1662K	probably benign	Het
Utp3	T	A	5: 88,703,267 (GRCm39)	Y265*	probably null	Het
Vwf	A	G	6: 125,640,511 (GRCm39)	T2316A	probably benign	Het
Zfp90	T	C	8: 107,150,841 (GRCm39)	F185L	probably benign	Het
Zwilch	G	A	9: 64,057,509 (GRCm39)	T395I	probably damaging	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
IGL02166:Hpdl	APN	4	116,678,149 (GRCm39)	missense	probably damaging	0.99
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

2015-12-18