Mutagenetix > Incidental Mutation

Incidental Mutation 'R4356:P3h4'

327562

Institutional Source

Beutler Lab

Gene Symbol

P3h4

Ensembl Gene

ENSMUSG00000006931

Gene Name

prolyl 3-hydroxylase family member 4 (non-enzymatic)

Synonyms

1110036O03Rik, Leprel4

MMRRC Submission

041669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100299293-100305542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100304452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 263 (F263S)

Ref Sequence

ENSEMBL: ENSMUSP00000065278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000066489] [ENSMUST00000107400]

AlphaFold

Q8K2B0

Predicted Effect

probably benign
Transcript: ENSMUST00000001595

SMART Domains

Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:FKBP_C	54	146	5.4e-30	PFAM
Pfam:FKBP_C	166	258	4e-29	PFAM
Pfam:FKBP_C	278	370	2.3e-28	PFAM
Pfam:FKBP_C	391	482	6.2e-26	PFAM
EFh	503	528	2.16e0	SMART
EFh	545	573	2.04e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000066489
AA Change: F263S

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

SMART Domains

Protein: ENSMUSP00000065278
Gene: ENSMUSG00000006931
AA Change: F263S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	56	70	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
internal_repeat_1	151	215	5.16e-8	PROSPERO
internal_repeat_1	302	364	5.16e-8	PROSPERO
low complexity region	385	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107400

SMART Domains

Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:FKBP_C	54	146	1.4e-29	PFAM
Pfam:FKBP_C	166	258	2e-29	PFAM
Pfam:FKBP_C	279	370	4.9e-26	PFAM
EFh	391	416	2.16e0	SMART
EFh	433	461	2.04e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134815

SMART Domains

Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	34	65	1.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141840

Meta Mutation Damage Score

0.9126

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased trabecular volume, compact bone thickness, skin tensile strength and muscle below the hypodermis with decreased cutaneous collagen fiber density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,701 (GRCm39)	Y132N	probably damaging	Het
Adam21	T	C	12: 81,605,594 (GRCm39)	T723A	probably damaging	Het
Alox5	C	T	6: 116,397,219 (GRCm39)	V322I	probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Ankhd1	A	T	18: 36,776,096 (GRCm39)	K1482*	probably null	Het
Cacna1e	A	C	1: 154,319,727 (GRCm39)	D1324E	probably damaging	Het
Ccdc150	A	G	1: 54,392,213 (GRCm39)	D657G	probably damaging	Het
Celsr1	A	G	15: 85,863,028 (GRCm39)	S1335P	probably damaging	Het
Cfhr4	T	A	1: 139,660,048 (GRCm39)	K621N	probably damaging	Het
Cspg5	A	G	9: 110,085,245 (GRCm39)	D391G	probably damaging	Het
Defa30	A	T	8: 21,624,821 (GRCm39)	D48V	possibly damaging	Het
E2f7	T	C	10: 110,595,712 (GRCm39)	Y136H	probably damaging	Het
Fam3d	A	G	14: 8,349,314 (GRCm38)	L212P	probably damaging	Het
Fbxw25	A	T	9: 109,491,153 (GRCm39)	C122S	probably damaging	Het
Fgg	A	T	3: 82,920,250 (GRCm39)	D343V	probably damaging	Het
Flnb	T	A	14: 7,922,700 (GRCm38)	M1712K	probably benign	Het
Fnbp4	T	C	2: 90,588,683 (GRCm39)	S485P	probably damaging	Het
Ftsj3	G	A	11: 106,144,502 (GRCm39)	A134V	probably benign	Het
Gast	C	A	11: 100,227,373 (GRCm39)	S22Y	probably damaging	Het
Gm20834	T	A	Y: 10,322,962 (GRCm39)	H158L	possibly damaging	Het
Ids	C	A	X: 69,389,950 (GRCm39)	G506C	probably damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Impg2	C	T	16: 56,080,527 (GRCm39)	T777I	probably damaging	Het
Kif11	C	A	19: 37,399,883 (GRCm39)	T790K	probably benign	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Mib1	A	G	18: 10,751,844 (GRCm39)	N242S	probably benign	Het
Nectin1	A	G	9: 43,703,802 (GRCm39)	D264G	probably benign	Het
Nipsnap3a	T	C	4: 52,995,979 (GRCm39)		probably null	Het
Or10al3	G	T	17: 38,011,790 (GRCm39)	E76D	probably damaging	Het
Or5w14	G	A	2: 87,542,229 (GRCm39)	S7F	possibly damaging	Het
Pcdhga4	C	T	18: 37,820,664 (GRCm39)	H738Y	probably damaging	Het
Prickle2	A	T	6: 92,388,490 (GRCm39)	I304K	probably damaging	Het
Ptprq	A	T	10: 107,444,225 (GRCm39)	Y1460N	probably damaging	Het
Rbl2	A	G	8: 91,833,735 (GRCm39)	D812G	probably damaging	Het
Rbm19	A	G	5: 120,278,427 (GRCm39)	T737A	possibly damaging	Het
Rbsn	G	A	6: 92,184,029 (GRCm39)	L95F	possibly damaging	Het
Sall4	T	C	2: 168,597,400 (GRCm39)	E480G	probably benign	Het
Scfd1	T	A	12: 51,486,068 (GRCm39)	N541K	probably benign	Het
Scube3	G	A	17: 28,383,283 (GRCm39)	G442S	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Smarcc1	A	G	9: 110,025,324 (GRCm39)	D667G	probably damaging	Het
Sned1	A	T	1: 93,193,113 (GRCm39)		probably null	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Sun3	A	G	11: 8,966,328 (GRCm39)	V231A	probably damaging	Het
Vmn2r106	A	T	17: 20,499,910 (GRCm39)	D108E	probably benign	Het
Xdh	A	G	17: 74,222,685 (GRCm39)	V560A	probably benign	Het
Zfp352	T	A	4: 90,112,071 (GRCm39)	H70Q	possibly damaging	Het
Zfp40	C	A	17: 23,396,164 (GRCm39)	C73F	probably benign	Het
Zfp975	A	C	7: 42,311,251 (GRCm39)	L454R	probably damaging	Het
Zik1	A	T	7: 10,224,268 (GRCm39)	C276*	probably null	Het

Other mutations in P3h4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02208:P3h4	APN	11	100,304,901 (GRCm39)	missense	probably damaging	0.96
slight	UTSW	11	100,302,671 (GRCm39)	missense	probably damaging	0.99
R2204:P3h4	UTSW	11	100,304,832 (GRCm39)	missense	probably benign	0.02
R2441:P3h4	UTSW	11	100,304,594 (GRCm39)	missense	probably damaging	1.00
R4358:P3h4	UTSW	11	100,304,452 (GRCm39)	missense	probably damaging	1.00
R5762:P3h4	UTSW	11	100,302,677 (GRCm39)	missense	probably damaging	1.00
R5877:P3h4	UTSW	11	100,304,843 (GRCm39)	missense	probably benign	0.05
R6167:P3h4	UTSW	11	100,302,671 (GRCm39)	missense	probably damaging	0.99
R6371:P3h4	UTSW	11	100,302,575 (GRCm39)	missense	probably benign	0.44
R7830:P3h4	UTSW	11	100,304,869 (GRCm39)	missense	probably damaging	1.00
R9652:P3h4	UTSW	11	100,304,499 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGAATTTGCTATGTATACCAGC -3'
(R):5'- TCGGGGTCTTCTTGACTACC -3'

Sequencing Primer
(F):5'- AGCATTTCTCTCATCAGACTGGAGAC -3'
(R):5'- TGACTACCCCCGCCATG -3'

Posted On

2015-07-07