Mutagenetix > Incidental Mutation

Incidental Mutation 'R0525:Phyhd1'

48821

Institutional Source

Beutler Lab

Gene Symbol

Phyhd1

Ensembl Gene

ENSMUSG00000079484

Gene Name

phytanoyl-CoA dioxygenase domain containing 1

Synonyms

MMRRC Submission

038718-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

R0525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30156215-30172161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30171040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 241 (H241R)

Ref Sequence

ENSEMBL: ENSMUSP00000121371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091132] [ENSMUST00000100219] [ENSMUST00000113643] [ENSMUST00000113645] [ENSMUST00000127689] [ENSMUST00000133877] [ENSMUST00000150695] [ENSMUST00000154647] [ENSMUST00000138254] [ENSMUST00000139719] [ENSMUST00000139454]

AlphaFold

Q9DB26

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000085290

Predicted Effect

probably damaging
Transcript: ENSMUST00000091132
AA Change: H261R

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

SMART Domains

Protein: ENSMUSP00000088663
Gene: ENSMUSG00000079484
AA Change: H261R

Domain	Start	End	E-Value	Type
Pfam:PhyH	32	279	2.7e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100219

SMART Domains

Protein: ENSMUSP00000097792
Gene: ENSMUSG00000075419

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	108	130	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	165	187	N/A	INTRINSIC
transmembrane domain	221	243	N/A	INTRINSIC
transmembrane domain	252	274	N/A	INTRINSIC
transmembrane domain	294	313	N/A	INTRINSIC
transmembrane domain	333	350	N/A	INTRINSIC
transmembrane domain	355	377	N/A	INTRINSIC
transmembrane domain	398	418	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	476	493	N/A	INTRINSIC
low complexity region	522	532	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113643
AA Change: H220R

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

SMART Domains

Protein: ENSMUSP00000109273
Gene: ENSMUSG00000079484
AA Change: H220R

Domain	Start	End	E-Value	Type
Pfam:PhyH	12	238	9e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113645
AA Change: H241R

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

SMART Domains

Protein: ENSMUSP00000109275
Gene: ENSMUSG00000079484
AA Change: H241R

Domain	Start	End	E-Value	Type
Pfam:PhyH	12	259	1.4e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127689

SMART Domains

Protein: ENSMUSP00000119543
Gene: ENSMUSG00000079484

Domain	Start	End	E-Value	Type
Pfam:PhyH	12	150	7.5e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129512

Predicted Effect

probably damaging
Transcript: ENSMUST00000133877
AA Change: H237R

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

SMART Domains

Protein: ENSMUSP00000117643
Gene: ENSMUSG00000079484
AA Change: H237R

Domain	Start	End	E-Value	Type
Pfam:PhyH	8	249	9.3e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150695
AA Change: H194R

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

SMART Domains

Protein: ENSMUSP00000121995
Gene: ENSMUSG00000079484
AA Change: H194R

Domain	Start	End	E-Value	Type
Pfam:PhyH	12	107	1.1e-16	PFAM
Pfam:PhyH	104	212	7.2e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154647
AA Change: H241R

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

SMART Domains

Protein: ENSMUSP00000121371
Gene: ENSMUSG00000079484
AA Change: H241R

Domain	Start	End	E-Value	Type
Pfam:PhyH	12	259	1.4e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154988

Predicted Effect

probably benign
Transcript: ENSMUST00000143119

SMART Domains

Protein: ENSMUSP00000125607
Gene: ENSMUSG00000098794

Domain	Start	End	E-Value	Type
PDB:3OBZ\|A	1	31	4e-9	PDB
Pfam:Nup188	47	126	2.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138254

SMART Domains

Protein: ENSMUSP00000116062
Gene: ENSMUSG00000079484

Domain	Start	End	E-Value	Type
Pfam:PhyH	12	157	2.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147204

SMART Domains

Protein: ENSMUSP00000122095
Gene: ENSMUSG00000079484

Domain	Start	End	E-Value	Type
PDB:3OBZ\|A	2	42	4e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000139719

SMART Domains

Protein: ENSMUSP00000116450
Gene: ENSMUSG00000079484

Domain	Start	End	E-Value	Type
Pfam:PhyH	12	217	4.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139454

SMART Domains

Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	3.3e-32	PFAM
Pfam:DUF3733	97	156	2e-22	PFAM
transmembrane domain	320	342	N/A	INTRINSIC
low complexity region	445	455	N/A	INTRINSIC
internal_repeat_1	461	526	7.6e-5	PROSPERO
low complexity region	540	558	N/A	INTRINSIC
LRR	590	613	5.41e0	SMART
LRR	614	636	3.18e2	SMART
LRR	638	660	6.78e1	SMART
LRR_TYP	661	684	1.06e-4	SMART
LRR	685	706	1.15e1	SMART
LRR_TYP	707	730	1.92e-2	SMART
LRR	731	751	1.81e2	SMART
LRR	753	776	2.02e-1	SMART

Meta Mutation Damage Score

0.8381

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	A	7: 124,930,671 (GRCm39)		noncoding transcript	Het
A930002H24Rik	A	G	17: 64,170,642 (GRCm39)	W49R	unknown	Het
Abca13	G	A	11: 9,243,371 (GRCm39)	V1745M	probably damaging	Het
Abca16	T	G	7: 120,065,033 (GRCm39)	Y563*	probably null	Het
Acot12	C	T	13: 91,908,186 (GRCm39)		probably benign	Het
Alms1	G	A	6: 85,564,742 (GRCm39)	A39T	unknown	Het
Arid5b	T	C	10: 67,933,676 (GRCm39)	D742G	possibly damaging	Het
Atp1a4	G	A	1: 172,067,255 (GRCm39)		probably benign	Het
AU021092	T	A	16: 5,035,725 (GRCm39)	E145V	possibly damaging	Het
Calr4	A	T	4: 109,099,461 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,106,093 (GRCm39)		probably null	Het
Cnpy4	A	T	5: 138,190,878 (GRCm39)	H180L	probably benign	Het
Cyp2j9	T	C	4: 96,467,802 (GRCm39)		probably null	Het
Dgkq	A	G	5: 108,802,481 (GRCm39)	S406P	probably damaging	Het
Dhx8	G	A	11: 101,654,754 (GRCm39)	C1014Y	probably damaging	Het
Dnah3	T	C	7: 119,527,977 (GRCm39)	Y3824C	probably damaging	Het
Donson	A	T	16: 91,483,133 (GRCm39)	H69Q	probably damaging	Het
Dppa3	A	G	6: 122,606,939 (GRCm39)	E143G	probably damaging	Het
Drg1	A	G	11: 3,212,545 (GRCm39)	F96L	probably damaging	Het
Dvl1	A	C	4: 155,940,052 (GRCm39)	T395P	probably damaging	Het
Eftud2	A	T	11: 102,730,079 (GRCm39)	V897D	probably damaging	Het
Enpp6	A	G	8: 47,535,478 (GRCm39)	N341S	possibly damaging	Het
F11	A	G	8: 45,706,086 (GRCm39)	F100L	probably benign	Het
Fas	T	C	19: 34,296,727 (GRCm39)	Y189H	probably damaging	Het
Galnt14	G	T	17: 73,852,076 (GRCm39)	S114R	probably damaging	Het
Gfpt2	A	G	11: 49,720,602 (GRCm39)	I528V	probably benign	Het
Glt6d1	A	G	2: 25,684,280 (GRCm39)	V242A	possibly damaging	Het
Grm1	A	T	10: 10,594,953 (GRCm39)		probably benign	Het
Gskip	G	A	12: 105,665,224 (GRCm39)	A88T	probably damaging	Het
Gtpbp1	A	G	15: 79,597,648 (GRCm39)	I348V	probably benign	Het
Hnrnpul1	C	A	7: 25,440,308 (GRCm39)	R316L	possibly damaging	Het
Il34	T	C	8: 111,474,915 (GRCm39)	E121G	probably damaging	Het
Lrr1	T	C	12: 69,215,685 (GRCm39)	L19P	probably damaging	Het
Mat2b	A	G	11: 40,573,496 (GRCm39)		probably benign	Het
Mettl21e	T	C	1: 44,245,542 (GRCm39)	K235E	probably damaging	Het
Mir124-2hg	T	A	3: 17,839,693 (GRCm39)	E126V	possibly damaging	Het
Myh15	A	G	16: 48,952,414 (GRCm39)	K828R	probably benign	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Nek5	C	A	8: 22,569,093 (GRCm39)		probably benign	Het
Nudt7	A	T	8: 114,878,392 (GRCm39)		probably null	Het
Or10ag56	A	T	2: 87,139,693 (GRCm39)	T187S	probably benign	Het
Or10d4c	T	G	9: 39,558,767 (GRCm39)	C248W	probably damaging	Het
Or1j4	T	C	2: 36,740,202 (GRCm39)	L48P	probably damaging	Het
Or4a67	G	A	2: 88,597,658 (GRCm39)	Q334*	probably null	Het
Or8k23	C	T	2: 86,186,619 (GRCm39)	V36I	probably benign	Het
Pmch	T	C	10: 87,927,262 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,717 (GRCm39)	S697G	probably damaging	Het
Rslcan18	A	G	13: 67,260,322 (GRCm39)	V25A	probably benign	Het
Sema6b	T	C	17: 56,433,630 (GRCm39)	H426R	probably damaging	Het
Serpina3g	T	C	12: 104,204,598 (GRCm39)	F9S	probably damaging	Het
Serpinb12	T	A	1: 106,874,432 (GRCm39)	H52Q	probably benign	Het
Sh3gl1	T	C	17: 56,324,873 (GRCm39)	K294R	probably benign	Het
Sidt1	G	T	16: 44,079,809 (GRCm39)	T615K	possibly damaging	Het
Slc16a4	A	C	3: 107,205,255 (GRCm39)		probably benign	Het
Sned1	T	A	1: 93,199,696 (GRCm39)		probably null	Het
Sp2	A	T	11: 96,846,924 (GRCm39)		probably benign	Het
Steap1	T	A	5: 5,792,903 (GRCm39)	I3F	possibly damaging	Het
Stxbp5l	A	T	16: 36,950,159 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,995,614 (GRCm39)	V968F	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Triobp	T	C	15: 78,858,098 (GRCm39)	L1233P	possibly damaging	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpc4ap	A	G	2: 155,482,398 (GRCm39)	F531L	possibly damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Vmn1r86	T	C	7: 12,836,088 (GRCm39)	K213E	probably benign	Het
Vps8	G	A	16: 21,358,859 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,903,525 (GRCm39)	S2563T	probably damaging	Het
Yrdc	C	G	4: 124,745,559 (GRCm39)	R3G	probably damaging	Het
Zfp287	A	T	11: 62,606,070 (GRCm39)	V279E	probably benign	Het

Other mutations in Phyhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0271:Phyhd1	UTSW	2	30,159,834 (GRCm39)	missense	probably benign	0.02
R0665:Phyhd1	UTSW	2	30,171,040 (GRCm39)	missense	probably damaging	1.00
R1555:Phyhd1	UTSW	2	30,164,718 (GRCm39)	missense	probably damaging	1.00
R5568:Phyhd1	UTSW	2	30,167,022 (GRCm39)	missense	probably damaging	1.00
R5714:Phyhd1	UTSW	2	30,169,994 (GRCm39)	missense	probably damaging	1.00
R5763:Phyhd1	UTSW	2	30,169,983 (GRCm39)	missense	probably damaging	1.00
R6334:Phyhd1	UTSW	2	30,164,736 (GRCm39)	critical splice donor site	probably null
R6854:Phyhd1	UTSW	2	30,159,773 (GRCm39)	missense	possibly damaging	0.92
R7792:Phyhd1	UTSW	2	30,156,782 (GRCm39)	start codon destroyed	probably null
R8526:Phyhd1	UTSW	2	30,156,955 (GRCm39)	critical splice donor site	probably null
R9284:Phyhd1	UTSW	2	30,156,879 (GRCm39)	nonsense	probably null
R9429:Phyhd1	UTSW	2	30,156,917 (GRCm39)	missense	probably benign	0.23
R9663:Phyhd1	UTSW	2	30,171,070 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACGAGTGACAGCCCGAGTT -3'
(R):5'- CTGGAGCCTGGAGAGAGTGCAA -3'

Sequencing Primer
(F):5'- CAGCCCGAGTTCCTAAGGATAG -3'
(R):5'- gtgtgtttgtttgtttgtttgtttg -3'

Posted On

2013-06-12