Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03260:Prg4'

414771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prg4

Ensembl Gene

ENSMUSG00000006014

Gene Name

proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein)

Synonyms

MSF, SZP, lubricin, DOL54

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL03260

Quality Score

Status

Chromosome

Chromosomal Location

150325163-150341916 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 150331378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006171] [ENSMUST00000111901] [ENSMUST00000111902] [ENSMUST00000159035] [ENSMUST00000161320] [ENSMUST00000161611] [ENSMUST00000162367] [ENSMUST00000164600]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006171

SMART Domains

Protein: ENSMUSP00000006171
Gene: ENSMUSG00000006014

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SO	26	68	9.21e-18	SMART
SO	69	108	4.21e-12	SMART
low complexity region	110	124	N/A	INTRINSIC
HX	169	211	1.67e-7	SMART
HX	213	256	3.76e-10	SMART
Blast:HX	369	422	2e-27	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000111901
AA Change: T344S

SMART Domains

Protein: ENSMUSP00000107532
Gene: ENSMUSG00000006014
AA Change: T344S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SO	26	68	9.21e-18	SMART
SO	69	108	4.21e-12	SMART
low complexity region	110	124	N/A	INTRINSIC
low complexity region	141	151	N/A	INTRINSIC
low complexity region	189	221	N/A	INTRINSIC
low complexity region	241	535	N/A	INTRINSIC
low complexity region	570	623	N/A	INTRINSIC
HX	711	753	1.67e-7	SMART
HX	755	798	3.76e-10	SMART
Blast:HX	911	964	5e-27	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000111902
AA Change: T391S

SMART Domains

Protein: ENSMUSP00000107533
Gene: ENSMUSG00000006014
AA Change: T391S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SO	25	67	2.71e-15	SMART
low complexity region	69	81	N/A	INTRINSIC
low complexity region	86	143	N/A	INTRINSIC
low complexity region	150	171	N/A	INTRINSIC
low complexity region	188	198	N/A	INTRINSIC
low complexity region	236	268	N/A	INTRINSIC
low complexity region	288	582	N/A	INTRINSIC
internal_repeat_1	588	614	2.72e-5	PROSPERO
low complexity region	617	670	N/A	INTRINSIC
internal_repeat_1	680	706	2.72e-5	PROSPERO
HX	758	800	1.67e-7	SMART
HX	802	845	3.76e-10	SMART
Blast:HX	958	1011	4e-27	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159035

SMART Domains

Protein: ENSMUSP00000124410
Gene: ENSMUSG00000006014

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SO	25	67	2.71e-15	SMART
low complexity region	69	81	N/A	INTRINSIC
low complexity region	88	99	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161320

SMART Domains

Protein: ENSMUSP00000124801
Gene: ENSMUSG00000006014

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SO	25	67	3.83e-15	SMART
low complexity region	69	83	N/A	INTRINSIC
low complexity region	100	110	N/A	INTRINSIC
low complexity region	148	179	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161611
AA Change: T432S

SMART Domains

Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: T432S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SO	26	68	9.21e-18	SMART
SO	69	108	2.77e-12	SMART
low complexity region	110	122	N/A	INTRINSIC
low complexity region	127	184	N/A	INTRINSIC
low complexity region	191	212	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
internal_repeat_3	244	271	7.42e-5	PROSPERO
low complexity region	277	309	N/A	INTRINSIC
Pfam:Cornifin	578	691	2.2e-9	PFAM
internal_repeat_3	796	825	7.42e-5	PROSPERO
internal_repeat_2	797	823	1.24e-5	PROSPERO
low complexity region	826	879	N/A	INTRINSIC
internal_repeat_2	889	915	1.24e-5	PROSPERO
HX	967	1009	1.67e-7	SMART
HX	1011	1054	3.76e-10	SMART
Blast:HX	1167	1220	6e-27	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162367

SMART Domains

Protein: ENSMUSP00000125551
Gene: ENSMUSG00000006014

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SO	26	68	9.21e-18	SMART
SO	69	108	4.21e-12	SMART
low complexity region	110	124	N/A	INTRINSIC
HX	169	211	1.67e-7	SMART
HX	213	256	3.76e-10	SMART
Blast:HX	369	422	2e-27	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000164600
AA Change: T432S

SMART Domains

Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: T432S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SO	26	68	9.21e-18	SMART
SO	69	108	2.77e-12	SMART
low complexity region	110	122	N/A	INTRINSIC
low complexity region	127	184	N/A	INTRINSIC
low complexity region	191	212	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
internal_repeat_3	244	271	7.42e-5	PROSPERO
low complexity region	277	309	N/A	INTRINSIC
Pfam:Cornifin	404	497	2.4e-14	PFAM
Pfam:Cornifin	468	584	3.2e-15	PFAM
Pfam:Cornifin	550	648	3.3e-16	PFAM
Pfam:Cornifin	625	722	2.1e-15	PFAM
Pfam:Cornifin	647	743	7.8e-16	PFAM
Pfam:Cornifin	706	822	1.4e-12	PFAM
low complexity region	826	879	N/A	INTRINSIC
internal_repeat_2	889	915	1.24e-5	PROSPERO
HX	967	1009	1.67e-7	SMART
HX	1011	1054	3.76e-10	SMART
Blast:HX	1167	1220	6e-27	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Aging homozygous null mice develop a hopping gait, irregular endochondral growth plates, altered cartilage surface, camptodactyly, progressive synovial hyperplasia and, ultimately, joint failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	A	G	10: 20,187,071 (GRCm39)		probably benign	Het
Abca12	A	G	1: 71,323,258 (GRCm39)	L1608P	probably damaging	Het
Akr1b8	G	T	6: 34,340,394 (GRCm39)		probably benign	Het
Appbp2	A	G	11: 85,107,283 (GRCm39)	V69A	probably benign	Het
Ces1e	T	C	8: 93,950,545 (GRCm39)	N79D	probably benign	Het
Cldn34b3	A	G	X: 75,310,479 (GRCm39)	T16A	probably damaging	Het
Frmd4b	A	T	6: 97,373,185 (GRCm39)	F103Y	probably damaging	Het
Ifi47	T	C	11: 48,986,932 (GRCm39)	F233S	probably damaging	Het
Igkv8-30	A	T	6: 70,094,339 (GRCm39)	M24K	probably damaging	Het
Krt72	C	T	15: 101,686,708 (GRCm39)	A413T	probably damaging	Het
Lingo4	A	G	3: 94,309,250 (GRCm39)	T63A	probably benign	Het
Naa35	T	G	13: 59,775,699 (GRCm39)	S125A	probably benign	Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or6z7	A	T	7: 6,483,658 (GRCm39)	C166S	probably damaging	Het
Padi1	T	C	4: 140,555,505 (GRCm39)	H240R	probably benign	Het
Ppp1r12a	A	G	10: 108,097,106 (GRCm39)	T240A	probably benign	Het
Ppp2ca	A	G	11: 52,003,975 (GRCm39)	N44S	probably damaging	Het
Rab33a	A	G	X: 47,608,545 (GRCm39)	E23G	probably benign	Het
Scarb2	G	T	5: 92,594,296 (GRCm39)	A422E	probably damaging	Het
Scn4b	A	T	9: 45,058,987 (GRCm39)	N86I	probably damaging	Het
Serpina1d	G	A	12: 103,730,108 (GRCm39)	T358I	probably damaging	Het
Slc12a3	T	A	8: 95,059,870 (GRCm39)	I172N	probably damaging	Het
Slc18a1	T	C	8: 69,527,766 (GRCm39)	E15G	probably benign	Het
Snx7	A	G	3: 117,575,942 (GRCm39)		probably benign	Het
Srpx	T	A	X: 9,921,987 (GRCm39)	K216*	probably null	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Unc13c	A	G	9: 73,838,626 (GRCm39)	S742P	probably benign	Het
Vmn2r104	C	T	17: 20,263,083 (GRCm39)	C126Y	probably benign	Het
Vmn2r63	A	T	7: 42,578,616 (GRCm39)	N92K	probably damaging	Het

Other mutations in Prg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Prg4	APN	1	150,327,671 (GRCm39)	missense	probably damaging	0.99
IGL02033:Prg4	APN	1	150,331,619 (GRCm39)	intron	probably benign
IGL02154:Prg4	APN	1	150,330,613 (GRCm39)	intron	probably benign
IGL03111:Prg4	APN	1	150,327,653 (GRCm39)	missense	probably benign	0.06
IGL03177:Prg4	APN	1	150,331,354 (GRCm39)	intron	probably benign
IGL03281:Prg4	APN	1	150,325,839 (GRCm39)	splice site	probably benign
R0046:Prg4	UTSW	1	150,331,837 (GRCm39)	missense	possibly damaging	0.53
R0046:Prg4	UTSW	1	150,331,837 (GRCm39)	missense	possibly damaging	0.53
R0196:Prg4	UTSW	1	150,330,243 (GRCm39)	intron	probably benign
R0233:Prg4	UTSW	1	150,329,298 (GRCm39)	splice site	probably benign
R0255:Prg4	UTSW	1	150,331,558 (GRCm39)	intron	probably benign
R0616:Prg4	UTSW	1	150,336,462 (GRCm39)	missense	probably damaging	1.00
R1016:Prg4	UTSW	1	150,330,442 (GRCm39)	intron	probably benign
R1826:Prg4	UTSW	1	150,327,760 (GRCm39)	missense	probably benign	0.09
R1862:Prg4	UTSW	1	150,336,420 (GRCm39)	missense	probably damaging	0.99
R1863:Prg4	UTSW	1	150,336,420 (GRCm39)	missense	probably damaging	0.99
R1922:Prg4	UTSW	1	150,325,750 (GRCm39)	nonsense	probably null
R1940:Prg4	UTSW	1	150,331,774 (GRCm39)	missense	possibly damaging	0.53
R3765:Prg4	UTSW	1	150,327,122 (GRCm39)	missense	probably damaging	0.97
R3855:Prg4	UTSW	1	150,327,751 (GRCm39)	missense	probably damaging	1.00
R3894:Prg4	UTSW	1	150,330,510 (GRCm39)	intron	probably benign
R3895:Prg4	UTSW	1	150,330,510 (GRCm39)	intron	probably benign
R3912:Prg4	UTSW	1	150,327,619 (GRCm39)	missense	probably damaging	1.00
R3935:Prg4	UTSW	1	150,333,908 (GRCm39)	missense	possibly damaging	0.68
R4050:Prg4	UTSW	1	150,330,510 (GRCm39)	intron	probably benign
R4475:Prg4	UTSW	1	150,330,610 (GRCm39)	intron	probably benign
R4794:Prg4	UTSW	1	150,330,297 (GRCm39)	intron	probably benign
R4910:Prg4	UTSW	1	150,331,574 (GRCm39)	intron	probably benign
R4911:Prg4	UTSW	1	150,331,574 (GRCm39)	intron	probably benign
R4993:Prg4	UTSW	1	150,336,432 (GRCm39)	missense	probably damaging	1.00
R5378:Prg4	UTSW	1	150,330,977 (GRCm39)	intron	probably benign
R5381:Prg4	UTSW	1	150,330,204 (GRCm39)	intron	probably benign
R5452:Prg4	UTSW	1	150,331,519 (GRCm39)	intron	probably benign
R5870:Prg4	UTSW	1	150,331,300 (GRCm39)	nonsense	probably null
R5888:Prg4	UTSW	1	150,328,101 (GRCm39)	missense	probably damaging	1.00
R5929:Prg4	UTSW	1	150,329,880 (GRCm39)	missense	probably benign	0.01
R6058:Prg4	UTSW	1	150,327,197 (GRCm39)	missense	probably damaging	0.99
R6059:Prg4	UTSW	1	150,325,748 (GRCm39)	missense	possibly damaging	0.67
R6232:Prg4	UTSW	1	150,331,567 (GRCm39)	intron	probably benign
R6272:Prg4	UTSW	1	150,330,517 (GRCm39)	intron	probably benign
R6459:Prg4	UTSW	1	150,330,052 (GRCm39)	intron	probably benign
R6659:Prg4	UTSW	1	150,336,432 (GRCm39)	missense	probably damaging	1.00
R6663:Prg4	UTSW	1	150,330,852 (GRCm39)	intron	probably benign
R6882:Prg4	UTSW	1	150,329,246 (GRCm39)	missense	probably damaging	1.00
R6970:Prg4	UTSW	1	150,331,657 (GRCm39)	intron	probably benign
R7078:Prg4	UTSW	1	150,334,014 (GRCm39)	missense	possibly damaging	0.91
R7102:Prg4	UTSW	1	150,328,005 (GRCm39)	missense	probably damaging	1.00
R7264:Prg4	UTSW	1	150,329,818 (GRCm39)	missense	not run
R7487:Prg4	UTSW	1	150,331,656 (GRCm39)	missense	unknown
R7531:Prg4	UTSW	1	150,330,786 (GRCm39)	missense	unknown
R7651:Prg4	UTSW	1	150,330,696 (GRCm39)	missense	unknown
R7701:Prg4	UTSW	1	150,333,293 (GRCm39)	missense	possibly damaging	0.53
R8072:Prg4	UTSW	1	150,331,774 (GRCm39)	missense	possibly damaging	0.53
R8168:Prg4	UTSW	1	150,331,601 (GRCm39)	missense	unknown
R8248:Prg4	UTSW	1	150,330,877 (GRCm39)	missense	unknown
R8436:Prg4	UTSW	1	150,331,318 (GRCm39)	missense	unknown
R8460:Prg4	UTSW	1	150,331,692 (GRCm39)	missense	possibly damaging	0.83
R8514:Prg4	UTSW	1	150,330,396 (GRCm39)	missense	unknown
R8904:Prg4	UTSW	1	150,331,810 (GRCm39)	missense	possibly damaging	0.83
R9072:Prg4	UTSW	1	150,331,288 (GRCm39)	missense	unknown
R9073:Prg4	UTSW	1	150,331,288 (GRCm39)	missense	unknown
R9274:Prg4	UTSW	1	150,331,924 (GRCm39)	missense	possibly damaging	0.53
R9337:Prg4	UTSW	1	150,327,116 (GRCm39)	missense	probably damaging	1.00
R9488:Prg4	UTSW	1	150,327,024 (GRCm39)	missense	probably benign
R9613:Prg4	UTSW	1	150,331,660 (GRCm39)	missense	unknown
R9670:Prg4	UTSW	1	150,326,618 (GRCm39)	missense	probably benign	0.01
X0024:Prg4	UTSW	1	150,330,243 (GRCm39)	intron	probably benign

Posted On

2016-08-02