Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02886:Hpdl'

363024

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 #

IGL02886

Quality Score

Status

Chromosome

Chromosomal Location

116677104-116678705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116677952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 170 (S170P)

Ref Sequence

ENSEMBL: ENSMUSP00000062327 (fasta)

Gene Model

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

AlphaFold

Q8K248

Predicted Effect

probably benign
Transcript: ENSMUST00000055436
AA Change: S170P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062327
Gene: ENSMUSG00000043155
AA Change: S170P

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,863 (GRCm39)	C1140S	probably damaging	Het
Abhd12b	T	C	12: 70,229,740 (GRCm39)	I238T	possibly damaging	Het
Adgrb3	T	C	1: 25,543,991 (GRCm39)		probably null	Het
Baz2b	A	T	2: 59,788,087 (GRCm39)		probably null	Het
Brwd3	T	C	X: 107,794,454 (GRCm39)	Y1410C	probably damaging	Het
Casp7	T	A	19: 56,421,775 (GRCm39)	I71N	probably damaging	Het
Cspg4	A	T	9: 56,804,672 (GRCm39)	I1828F	probably damaging	Het
Cul2	T	C	18: 3,426,920 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,986,700 (GRCm39)	D5409G	possibly damaging	Het
Fam187a	A	T	11: 102,777,380 (GRCm39)	T395S	probably benign	Het
Fcgr2b	A	G	1: 170,793,297 (GRCm39)	V244A	possibly damaging	Het
Fubp1	A	G	3: 151,926,392 (GRCm39)	E333G	possibly damaging	Het
Ganab	G	T	19: 8,888,391 (GRCm39)		probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Klhl11	T	C	11: 100,363,047 (GRCm39)	S170G	possibly damaging	Het
Lrrc56	A	G	7: 140,777,090 (GRCm39)		probably benign	Het
Lrrd1	T	C	5: 3,901,534 (GRCm39)	V613A	probably benign	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myo5a	T	A	9: 75,059,169 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,069,569 (GRCm39)	D837V	probably damaging	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nol4l	A	G	2: 153,371,457 (GRCm39)	F76L	probably benign	Het
Or10ak7	T	C	4: 118,792,027 (GRCm39)	E6G	probably benign	Het
Or2b2b	T	A	13: 21,859,122 (GRCm39)		probably benign	Het
Or5b98	T	A	19: 12,931,882 (GRCm39)	S310T	probably benign	Het
Pck1	G	A	2: 172,996,649 (GRCm39)	E188K	probably benign	Het
Pdcd11	T	C	19: 47,102,064 (GRCm39)	V1083A	possibly damaging	Het
Primpol	G	A	8: 47,046,619 (GRCm39)	Q226*	probably null	Het
Rbm15	A	C	3: 107,233,611 (GRCm39)	V959G	probably benign	Het
Rorb	A	G	19: 18,954,943 (GRCm39)		probably null	Het
Spata9	T	C	13: 76,125,853 (GRCm39)	L112P	probably damaging	Het
Stk24	A	T	14: 121,529,527 (GRCm39)	L375Q	probably null	Het
Svip	A	G	7: 51,655,509 (GRCm39)	S11P	possibly damaging	Het
Taf13	T	C	3: 108,488,500 (GRCm39)		probably benign	Het
Tex30	T	C	1: 44,127,683 (GRCm39)	Y7C	probably damaging	Het
Tmem68	T	C	4: 3,569,361 (GRCm39)		probably benign	Het
Tnc	T	C	4: 63,918,344 (GRCm39)	E1189G	probably damaging	Het
Top2b	T	C	14: 16,365,688 (GRCm38)	S4P	possibly damaging	Het
Trav3-3	C	A	14: 53,903,822 (GRCm39)	L47I	probably benign	Het
Ttn	G	A	2: 76,733,557 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,323,811 (GRCm39)		probably benign	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
IGL02818:Hpdl	APN	4	116,677,439 (GRCm39)	missense	probably damaging	1.00
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