Mutagenetix > Incidental Mutation

Incidental Mutation 'R0665:Phyhd1'

61970

Institutional Source

Beutler Lab

Gene Symbol

Phyhd1

Ensembl Gene

ENSMUSG00000079484

Gene Name

phytanoyl-CoA dioxygenase domain containing 1

Synonyms

MMRRC Submission

038850-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

R0665 (G1)

Quality Score

140

Status

Not 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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl2	A	G	2: 90,631,554 (GRCm39)	Y304C	probably damaging	Het
B3galt2	T	C	1: 143,522,191 (GRCm39)	V109A	possibly damaging	Het
Chml	T	A	1: 175,515,461 (GRCm39)	E153D	probably benign	Het
Dap3	A	T	3: 88,838,304 (GRCm39)	C78*	probably null	Het
Dnah8	T	C	17: 30,955,129 (GRCm39)	F2053L	probably damaging	Het
Dppa3	A	G	6: 122,606,939 (GRCm39)	E143G	probably damaging	Het
Espnl	T	G	1: 91,262,409 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,908,698 (GRCm39)	A2435T	probably benign	Het
Flnc	G	A	6: 29,455,530 (GRCm39)	V2027M	probably damaging	Het
Gtf2h2	C	T	13: 100,617,562 (GRCm39)	G200E	probably damaging	Het
Gtpbp1	A	G	15: 79,597,648 (GRCm39)	I348V	probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnk10	T	C	12: 98,406,944 (GRCm39)	I251V	probably benign	Het
Kri1	G	A	9: 21,192,936 (GRCm39)		probably benign	Het
Lcmt1	G	A	7: 123,002,094 (GRCm39)	D120N	probably damaging	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Or12e1	A	G	2: 87,022,652 (GRCm39)	Y207C	probably damaging	Het
Or1j4	T	C	2: 36,740,202 (GRCm39)	L48P	probably damaging	Het
Or5w13	C	T	2: 87,524,152 (GRCm39)	V25I	probably benign	Het
Ppp2r5d	A	T	17: 46,997,330 (GRCm39)	N287K	probably damaging	Het
Ralgds	A	G	2: 28,435,218 (GRCm39)	H458R	probably damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Triobp	T	C	15: 78,858,098 (GRCm39)	L1233P	possibly damaging	Het
Trpc6	A	C	9: 8,634,123 (GRCm39)	T401P	probably benign	Het
Ttc5	T	A	14: 51,003,415 (GRCm39)	Q423L	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
R0525: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

2013-07-30