Mutagenetix > Incidental Mutation

Incidental Mutation 'R9327:Fmod'

706556

Institutional Source

Beutler Lab

Gene Symbol

Fmod

Ensembl Gene

ENSMUSG00000041559

Gene Name

fibromodulin

Synonyms

SLRR2E

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133964992-133976015 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133968589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 210 (N210Y)

Ref Sequence

ENSEMBL: ENSMUSP00000035489 (fasta)

Gene Model

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

AlphaFold

P50608

Predicted Effect

probably damaging
Transcript: ENSMUST00000048183
AA Change: N210Y

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

SMART Domains

Protein: ENSMUSP00000035489
Gene: ENSMUSG00000041559
AA Change: N210Y

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,895,499 (GRCm39)	M194K	probably benign	Het
Abcg1	T	C	17: 31,333,122 (GRCm39)	S622P	probably benign	Het
Ahnak2	A	T	12: 112,748,446 (GRCm39)	V467E		Het
Amdhd2	T	C	17: 24,377,421 (GRCm39)	E164G	probably benign	Het
Ank3	G	A	10: 69,812,086 (GRCm39)		probably null	Het
Bank1	A	T	3: 135,799,308 (GRCm39)	N545K	probably benign	Het
C9orf72	A	G	4: 35,205,883 (GRCm39)	I247T		Het
Cep63	T	C	9: 102,467,723 (GRCm39)	I548V	probably benign	Het
Col28a1	T	C	6: 8,175,653 (GRCm39)	D65G	unknown	Het
Cspg4b	C	A	13: 113,453,710 (GRCm39)	Q58K		Het
Cyp2c50	A	G	19: 40,079,010 (GRCm39)	N118D	probably benign	Het
Dock10	C	T	1: 80,510,184 (GRCm39)	C1549Y	probably damaging	Het
Epg5	A	G	18: 77,991,435 (GRCm39)	E44G	probably benign	Het
Ephb4	T	C	5: 137,361,529 (GRCm39)	S520P	probably damaging	Het
Eppk1	T	C	15: 75,993,755 (GRCm39)	E1042G	probably benign	Het
Fpr3	A	G	17: 18,191,713 (GRCm39)	D328G	probably damaging	Het
Garem2	T	G	5: 30,321,989 (GRCm39)	C783G	probably benign	Het
Gm10542	A	G	18: 44,337,689 (GRCm39)	N56D	probably damaging	Het
Gm20939	T	A	17: 95,184,424 (GRCm39)	N357K	probably benign	Het
Hr	A	G	14: 70,805,228 (GRCm39)	H990R	possibly damaging	Het
Il21r	A	G	7: 125,226,163 (GRCm39)	N53S	unknown	Het
Insrr	C	T	3: 87,721,604 (GRCm39)	T1170I	probably damaging	Het
Itga11	A	G	9: 62,638,034 (GRCm39)	M103V	probably damaging	Het
Izumo3	G	T	4: 92,035,050 (GRCm39)	Q56K	probably damaging	Het
Kcnh8	T	C	17: 53,146,084 (GRCm39)	V324A	probably damaging	Het
Kcnj2	T	A	11: 110,963,719 (GRCm39)	N370K	probably benign	Het
Klf16	G	T	10: 80,412,688 (GRCm39)	S116*	probably null	Het
Mettl16	T	C	11: 74,696,089 (GRCm39)	V310A	probably benign	Het
Misp3	G	T	8: 84,737,080 (GRCm39)	Q105K	unknown	Het
Mmrn2	G	A	14: 34,097,473 (GRCm39)		probably benign	Het
Mtcl1	A	G	17: 66,645,130 (GRCm39)	L1888P	probably damaging	Het
Muc5ac	A	C	7: 141,365,429 (GRCm39)	T1984P	possibly damaging	Het
Myo16	G	T	8: 10,489,705 (GRCm39)		probably null	Het
Nckipsd	T	C	9: 108,691,699 (GRCm39)	I466T	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npffr2	A	G	5: 89,730,661 (GRCm39)	H197R	probably benign	Het
Nrap	T	A	19: 56,340,100 (GRCm39)	M842L	probably benign	Het
Nxpe4	G	A	9: 48,309,984 (GRCm39)	A416T	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or51t4	T	C	7: 102,597,687 (GRCm39)	V5A	probably benign	Het
Or52n20	A	G	7: 104,320,742 (GRCm39)	I278V	probably damaging	Het
Or5p53	T	A	7: 107,533,019 (GRCm39)	C97*	probably null	Het
Ppp1r15a	C	T	7: 45,174,035 (GRCm39)	A258T	possibly damaging	Het
Prss36	A	T	7: 127,532,570 (GRCm39)	Y760*	probably null	Het
Psg26	T	A	7: 18,216,480 (GRCm39)	T120S	probably damaging	Het
Ptk7	A	T	17: 46,878,977 (GRCm39)	L908Q	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc25a44	A	T	3: 88,328,025 (GRCm39)	H155Q	probably benign	Het
Smarcc2	A	G	10: 128,321,486 (GRCm39)	T894A	probably damaging	Het
Tle4	A	G	19: 14,574,149 (GRCm39)	F39L	probably damaging	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Tmt1b	A	G	10: 128,794,607 (GRCm39)	M239T	probably benign	Het
Trpm3	T	C	19: 22,896,004 (GRCm39)	V947A	possibly damaging	Het
Txndc16	G	A	14: 45,379,448 (GRCm39)	T663I	probably benign	Het
Vmn2r45	T	C	7: 8,474,532 (GRCm39)	Y832C	probably damaging	Het
Vmn2r9	T	C	5: 108,996,841 (GRCm39)	T143A	probably damaging	Het
Vps26b	T	C	9: 26,930,750 (GRCm39)	N82D	probably benign	Het
Zfp318	T	G	17: 46,721,892 (GRCm39)	F1298L	probably damaging	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
R3974:Fmod	UTSW	1	133,968,496 (GRCm39)	missense	probably benign	0.22
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
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'- AAGGTAGGCAGGAAAGTCTTCTC -3'
(R):5'- TGTGAGACAACCGGACGTAC -3'

Sequencing Primer
(F):5'- GAAAGTCTTCTCCAAGCTGAGGC -3'
(R):5'- ACGTACAGCAGCTTGGGTGAC -3'

Posted On

2022-04-18