Mutagenetix > Incidental Mutation

Incidental Mutation 'R3974:Fmod'

312503

Institutional Source

Beutler Lab

Gene Symbol

Fmod

Ensembl Gene

ENSMUSG00000041559

Gene Name

fibromodulin

Synonyms

SLRR2E

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R3974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133964992-133976015 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133968496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 179 (R179G)

Ref Sequence

ENSEMBL: ENSMUSP00000035489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048183] [ENSMUST00000162779]

AlphaFold

P50608

Predicted Effect

probably benign
Transcript: ENSMUST00000048183
AA Change: R179G

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035489
Gene: ENSMUSG00000041559
AA Change: R179G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LRRNT	75	109	6.04e-13	SMART
LRR	105	127	8.98e1	SMART
LRR	154	177	1.41e0	SMART
LRR	178	198	2.82e0	SMART
LRR	199	221	8.72e0	SMART
LRR_TYP	222	245	2.2e-2	SMART
LRR	246	266	8.73e1	SMART
LRR	293	314	6.97e1	SMART
LRR	342	367	6.78e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162779

SMART Domains

Protein: ENSMUSP00000124896
Gene: ENSMUSG00000041559

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	38	84	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a targeted null mutation contain more immature, small diameter collagen fibrils in the tendon and display an increase in age-dependent osteoarthritis and degenerative changes of the articular cartilage. [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
2510039O18Rik	T	C	4: 148,029,488 (GRCm39)	I486T	probably damaging	Het
Abca8a	A	T	11: 109,974,328 (GRCm39)	M202K	probably damaging	Het
Abhd4	T	A	14: 54,500,417 (GRCm39)	I117N	probably damaging	Het
Adam23	T	A	1: 63,586,888 (GRCm39)	Y416*	probably null	Het
Cenpe	A	G	3: 134,940,986 (GRCm39)		probably null	Het
Cenph	A	G	13: 100,900,075 (GRCm39)	V151A	probably damaging	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Clca3a1	A	T	3: 144,738,400 (GRCm39)	V36D	probably damaging	Het
Cnbd1	G	A	4: 18,887,693 (GRCm39)	R274C	probably benign	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Dll4	A	G	2: 119,164,573 (GRCm39)	D664G	probably damaging	Het
Ehbp1	C	T	11: 22,087,867 (GRCm39)	A406T	probably benign	Het
Far2	T	A	6: 148,052,252 (GRCm39)	I177N	probably damaging	Het
Flt4	T	G	11: 49,527,567 (GRCm39)	V910G	probably damaging	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Grik2	A	T	10: 49,298,750 (GRCm39)	Y37N	probably damaging	Het
Grn	T	C	11: 102,327,165 (GRCm39)	V559A	probably damaging	Het
Lrrc37	A	T	11: 103,509,927 (GRCm39)		probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Myo5b	T	C	18: 74,767,552 (GRCm39)	Y287H	probably damaging	Het
Nbeal2	T	C	9: 110,462,914 (GRCm39)	T1350A	probably damaging	Het
Nfkbiz	T	C	16: 55,638,799 (GRCm39)	I220M	probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Omg	T	A	11: 79,393,224 (GRCm39)	E211D	probably benign	Het
Or52ab7	T	G	7: 102,978,285 (GRCm39)	D197E	probably damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,901 (GRCm39)	T404A	possibly damaging	Het
Plcl1	T	A	1: 55,737,374 (GRCm39)	M905K	probably benign	Het
Plod2	G	T	9: 92,480,672 (GRCm39)	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Ptprq	T	G	10: 107,547,923 (GRCm39)	K158N	possibly damaging	Het
Rimbp2	A	G	5: 128,874,862 (GRCm39)	V243A	probably damaging	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Rtn4	C	T	11: 29,657,505 (GRCm39)	T553I	probably damaging	Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Serpina1f	C	A	12: 103,659,830 (GRCm39)	G151*	probably null	Het
Sis	T	C	3: 72,850,968 (GRCm39)	T577A	probably damaging	Het
Slco1a1	A	T	6: 141,854,819 (GRCm39)	S611T	probably benign	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Syne1	T	C	10: 4,993,630 (GRCm39)	D8370G	probably benign	Het
Tigd4	G	A	3: 84,502,585 (GRCm39)	A501T	possibly damaging	Het
Tjp1	A	T	7: 64,947,387 (GRCm39)	C1724*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tyw5	A	T	1: 57,430,687 (GRCm39)	D165E	probably damaging	Het
U2af2	T	A	7: 5,072,438 (GRCm39)		probably null	Het
Ube3b	T	A	5: 114,550,491 (GRCm39)	D839E	probably benign	Het
Ush2a	A	G	1: 188,113,698 (GRCm39)	D639G	probably benign	Het
Veph1	A	T	3: 66,065,648 (GRCm39)	M473K	probably benign	Het
Vmn2r72	A	T	7: 85,399,017 (GRCm39)	N445K	probably damaging	Het
Vps37d	T	C	5: 135,105,393 (GRCm39)	M77V	probably null	Het

Other mutations in Fmod

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02041:Fmod	APN	1	133,968,001 (GRCm39)	missense	probably benign	0.27
IGL02279:Fmod	APN	1	133,968,235 (GRCm39)	missense	probably damaging	1.00
R0499:Fmod	UTSW	1	133,968,934 (GRCm39)	missense	possibly damaging	0.78
R1702:Fmod	UTSW	1	133,968,500 (GRCm39)	missense	probably damaging	1.00
R1887:Fmod	UTSW	1	133,968,551 (GRCm39)	missense	possibly damaging	0.94
R1912:Fmod	UTSW	1	133,968,458 (GRCm39)	missense	possibly damaging	0.90
R2145:Fmod	UTSW	1	133,968,256 (GRCm39)	missense	probably benign	0.18
R4083:Fmod	UTSW	1	133,968,043 (GRCm39)	missense	probably benign	0.00
R4748:Fmod	UTSW	1	133,968,912 (GRCm39)	missense	probably damaging	0.99
R4888:Fmod	UTSW	1	133,967,977 (GRCm39)	missense	possibly damaging	0.55
R6650:Fmod	UTSW	1	133,968,745 (GRCm39)	missense	probably benign	0.00
R7396:Fmod	UTSW	1	133,967,978 (GRCm39)	missense	probably benign	0.03
R7558:Fmod	UTSW	1	133,968,731 (GRCm39)	missense	probably benign	0.42
R8445:Fmod	UTSW	1	133,968,736 (GRCm39)	missense	probably benign
R8737:Fmod	UTSW	1	133,968,043 (GRCm39)	missense	probably benign	0.00
R8935:Fmod	UTSW	1	133,968,586 (GRCm39)	missense	probably benign	0.09
R9325:Fmod	UTSW	1	133,968,371 (GRCm39)	missense	probably damaging	0.96
R9327:Fmod	UTSW	1	133,968,589 (GRCm39)	missense	probably damaging	1.00
R9387:Fmod	UTSW	1	133,968,514 (GRCm39)	missense	probably benign	0.13
Z1176:Fmod	UTSW	1	133,968,657 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGAAGGTGTCTTTGACAATGC -3'
(R):5'- TGTGTTCTAGGTACAGCTGC -3'

Sequencing Primer
(F):5'- AAGGTGTCTTTGACAATGCCACTG -3'
(R):5'- GTTCTAGGTACAGCTGCTCCAG -3'

Posted On

2015-04-30