Mutagenetix > Incidental Mutation

Incidental Mutation 'R1565:Hpdl'

175183

Institutional Source

Beutler Lab

Gene Symbol

Hpdl

Ensembl Gene

ENSMUSG00000043155

Gene Name

4-hydroxyphenylpyruvate dioxygenase-like

Synonyms

A830048M07Rik, Gloxd1

MMRRC Submission

039604-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R1565 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

116819904-116821707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116820883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 127 (N127S)

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: N127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062327
Gene: ENSMUSG00000043155
AA Change: N127S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.0%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,880,501 (GRCm38)	G270S	probably benign	Het
Abtb1	T	C	6: 88,836,554 (GRCm38)	T401A	probably benign	Het
Adamts14	A	T	10: 61,270,897 (GRCm38)	M148K	probably damaging	Het
Adcy5	A	G	16: 35,268,957 (GRCm38)	E508G	probably damaging	Het
Ankfy1	T	A	11: 72,757,318 (GRCm38)	L875H	probably damaging	Het
Cacng3	A	T	7: 122,768,401 (GRCm38)	D168V	probably damaging	Het
Clpb	G	A	7: 101,785,461 (GRCm38)	R488Q	probably benign	Het
Cltrn	A	G	X: 164,118,234 (GRCm38)	D184G	possibly damaging	Het
Cpxm2	A	T	7: 132,062,145 (GRCm38)	Y350N	probably damaging	Het
D130040H23Rik	T	A	8: 69,303,160 (GRCm38)	*406R	probably null	Het
Dnah10	T	A	5: 124,829,614 (GRCm38)	D4236E	probably damaging	Het
Dpf3	T	A	12: 83,370,617 (GRCm38)	Y27F	probably damaging	Het
Esp4	T	C	17: 40,602,595 (GRCm38)	*118Q	probably null	Het
Fam222b	T	C	11: 78,154,662 (GRCm38)	S222P	possibly damaging	Het
Flnc	T	C	6: 29,455,171 (GRCm38)	V1933A	probably damaging	Het
Gem	T	C	4: 11,713,709 (GRCm38)	F282L	possibly damaging	Het
Gli2	T	C	1: 118,841,930 (GRCm38)	T631A	possibly damaging	Het
Gpld1	T	A	13: 24,956,068 (GRCm38)	V116E	probably damaging	Het
Gpr176	A	G	2: 118,280,214 (GRCm38)	M188T	probably benign	Het
Grk5	T	C	19: 61,089,972 (GRCm38)	V489A	probably damaging	Het
Hsd17b8	C	T	17: 34,027,495 (GRCm38)	V105I	possibly damaging	Het
Id4	G	T	13: 48,262,294 (GRCm38)	V151L	possibly damaging	Het
Kcnh8	G	T	17: 52,956,881 (GRCm38)	G802V	probably benign	Het
Lamc1	C	A	1: 153,242,743 (GRCm38)	S894I	probably benign	Het
Larp1b	A	G	3: 40,972,384 (GRCm38)	N184S	probably damaging	Het
Lhx1	A	T	11: 84,519,821 (GRCm38)	S226T	probably benign	Het
Lmo7	A	T	14: 101,887,521 (GRCm38)	Q472L	probably damaging	Het
Mog	G	C	17: 37,017,582 (GRCm38)	N152K	possibly damaging	Het
Mttp	A	G	3: 138,116,405 (GRCm38)		probably null	Het
Mycbp2	A	G	14: 103,252,509 (GRCm38)	V953A	possibly damaging	Het
Myo3a	A	T	2: 22,340,280 (GRCm38)	Y509F	probably damaging	Het
Myo9b	A	G	8: 71,315,192 (GRCm38)	N303S	possibly damaging	Het
Nek3	T	C	8: 22,132,201 (GRCm38)		probably null	Het
Nlrc4	A	T	17: 74,441,931 (GRCm38)	D771E	probably benign	Het
Nup160	A	T	2: 90,722,061 (GRCm38)	N1127I	possibly damaging	Het
Oas1h	A	T	5: 120,862,600 (GRCm38)	N91I	probably damaging	Het
Or13p4	T	A	4: 118,690,192 (GRCm38)	N87Y	probably damaging	Het
Or4c120	A	T	2: 89,170,627 (GRCm38)	V195D	probably benign	Het
Or4c121	G	T	2: 89,193,883 (GRCm38)	S50R	probably damaging	Het
Parp4	T	C	14: 56,589,872 (GRCm38)		probably benign	Het
Pi4ka	G	A	16: 17,281,900 (GRCm38)	C96Y	probably null	Het
Pira2	A	T	7: 3,844,549 (GRCm38)	F47Y	probably damaging	Het
Pkhd1	C	A	1: 20,347,457 (GRCm38)	G2490V	probably damaging	Het
Plekhg1	C	T	10: 3,940,526 (GRCm38)	T394I	probably damaging	Het
Pramel22	G	A	4: 143,655,617 (GRCm38)	Q170*	probably null	Het
Psmd1	T	C	1: 86,091,997 (GRCm38)		probably benign	Het
Rab3ip	A	T	10: 116,939,223 (GRCm38)	C77S	probably benign	Het
Reln	A	T	5: 21,925,213 (GRCm38)	M2700K	probably benign	Het
Rfx1	A	G	8: 84,073,946 (GRCm38)	T59A	probably benign	Het
Ric8b	G	T	10: 84,980,099 (GRCm38)	V405L	probably benign	Het
Rufy3	G	T	5: 88,640,632 (GRCm38)	A479S	probably damaging	Het
Sardh	A	T	2: 27,242,719 (GRCm38)	Y166N	probably damaging	Het
Slamf6	T	G	1: 171,934,408 (GRCm38)	V132G	possibly damaging	Het
Slc12a3	T	G	8: 94,345,877 (GRCm38)	H674Q	possibly damaging	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Srsf9	A	G	5: 115,327,370 (GRCm38)	N21S	possibly damaging	Het
Stkld1	A	T	2: 26,950,090 (GRCm38)	T391S	probably benign	Het
Sumf2	C	A	5: 129,859,914 (GRCm38)	N230K	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569 (GRCm38)	V22A	possibly damaging	Het
Thsd7b	T	A	1: 129,596,041 (GRCm38)	S194T	possibly damaging	Het
Tnn	T	A	1: 160,097,265 (GRCm38)	Y1173F	probably damaging	Het
Top2a	A	G	11: 99,001,054 (GRCm38)	F1122L	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Trim39	G	A	17: 36,268,854 (GRCm38)	R70W	probably damaging	Het
Ttn	G	A	2: 76,794,261 (GRCm38)	T15289I	probably damaging	Het
Ugt2b38	A	T	5: 87,411,914 (GRCm38)	V373E	probably damaging	Het
Usp54	A	G	14: 20,607,159 (GRCm38)	S24P	probably damaging	Het
Vmn2r27	C	T	6: 124,231,634 (GRCm38)	G51S	probably benign	Het
Xylt2	C	T	11: 94,667,594 (GRCm38)	A579T	probably benign	Het
Zbtb21	A	G	16: 97,952,427 (GRCm38)	S247P	probably benign	Het
Zc3h7b	C	T	15: 81,777,088 (GRCm38)	P376L	probably benign	Het
Zfp251	T	A	15: 76,853,038 (GRCm38)	R613S	probably damaging	Het
Zfp251	C	T	15: 76,853,039 (GRCm38)	R613K	possibly damaging	Het
Zfp91	T	C	19: 12,779,075 (GRCm38)	D135G	probably benign	Het

Other mutations in Hpdl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Hpdl	APN	4	116,820,944 (GRCm38)	missense	possibly damaging	0.78
IGL02166:Hpdl	APN	4	116,820,952 (GRCm38)	missense	probably damaging	0.99
IGL02818:Hpdl	APN	4	116,820,242 (GRCm38)	missense	probably damaging	1.00
IGL02886:Hpdl	APN	4	116,820,755 (GRCm38)	missense	probably benign
R0403:Hpdl	UTSW	4	116,820,479 (GRCm38)	missense	possibly damaging	0.89
R0605:Hpdl	UTSW	4	116,820,787 (GRCm38)	missense	possibly damaging	0.87
R3791:Hpdl	UTSW	4	116,820,532 (GRCm38)	missense	possibly damaging	0.95
R4736:Hpdl	UTSW	4	116,821,024 (GRCm38)	missense	probably damaging	1.00
R4740:Hpdl	UTSW	4	116,821,024 (GRCm38)	missense	probably damaging	1.00
R5681:Hpdl	UTSW	4	116,820,842 (GRCm38)	missense	probably benign	0.40
R5781:Hpdl	UTSW	4	116,820,578 (GRCm38)	missense	probably damaging	1.00
R7427:Hpdl	UTSW	4	116,820,865 (GRCm38)	missense	probably damaging	1.00
R7428:Hpdl	UTSW	4	116,820,865 (GRCm38)	missense	probably damaging	1.00
R9187:Hpdl	UTSW	4	116,821,175 (GRCm38)	missense	probably damaging	1.00
R9417:Hpdl	UTSW	4	116,820,620 (GRCm38)	missense	possibly damaging	0.64
R9777:Hpdl	UTSW	4	116,820,865 (GRCm38)	missense	probably damaging	1.00
Z1088:Hpdl	UTSW	4	116,820,833 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGGAACCAGCGCATAAGCATAG -3'
(R):5'- ACATCGTGTCTTCGGCTTCCAG -3'

Sequencing Primer
(F):5'- CATAAGCATAGGGGAGCTGCC -3'
(R):5'- ACGCTGTCTTTCTAGTGAATGAG -3'

Posted On

2014-04-24