Mutagenetix > Incidental Mutation

Incidental Mutation 'R8747:Lum'

663614

Institutional Source

Beutler Lab

Gene Symbol

Lum

Ensembl Gene

ENSMUSG00000036446

Gene Name

lumican

Synonyms

Ldc, SLRR2D

MMRRC Submission

068618-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R8747 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97401363-97408565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97404351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 82 (D82V)

Ref Sequence

ENSEMBL: ENSMUSP00000040877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038160]

AlphaFold

P51885

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038160
AA Change: D82V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040877
Gene: ENSMUSG00000036446
AA Change: D82V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LRRNT	36	70	1.02e-10	SMART
LRR	66	88	2.14e1	SMART
LRR	89	114	1.92e2	SMART
LRR	135	157	1.67e2	SMART
LRR	158	181	7.8e1	SMART
LRR_TYP	183	206	2.36e-2	SMART
LRR	207	227	6.41e1	SMART
LRR	228	253	6.59e1	SMART
LRR	254	275	4.45e1	SMART
LRR	303	328	3.18e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,240 (GRCm39)	D190G	probably benign	Het
Abhd11	A	G	5: 135,040,760 (GRCm39)	I271V	possibly damaging	Het
Akap6	T	G	12: 53,188,999 (GRCm39)	S2138A	probably benign	Het
Amn	C	A	12: 111,241,440 (GRCm39)	P235H	probably damaging	Het
Arf2	A	T	11: 103,859,975 (GRCm39)	M18L	probably benign	Het
Asic2	A	T	11: 81,043,233 (GRCm39)	F20Y	possibly damaging	Het
Bok	T	C	1: 93,622,664 (GRCm39)		probably null	Het
Cachd1	T	A	4: 100,860,045 (GRCm39)		probably benign	Het
Casp8	A	G	1: 58,883,617 (GRCm39)	N308S	probably benign	Het
Cavin3	G	T	7: 105,131,154 (GRCm39)	H71Q	possibly damaging	Het
Ccdc87	A	G	19: 4,891,646 (GRCm39)	I713V	probably benign	Het
Clcn6	A	T	4: 148,093,354 (GRCm39)		probably null	Het
Cmas	T	C	6: 142,716,927 (GRCm39)	I273T	possibly damaging	Het
Ctxn3	A	T	18: 57,610,378 (GRCm39)	D65V	probably damaging	Het
D130040H23Rik	C	A	8: 69,755,705 (GRCm39)	N387K	probably benign	Het
Depp1	T	A	6: 116,629,122 (GRCm39)	L155Q	possibly damaging	Het
Dnah9	T	C	11: 65,818,816 (GRCm39)	K3174R	possibly damaging	Het
Ecpas	C	T	4: 58,828,632 (GRCm39)	V934I	probably damaging	Het
Efcab14	A	G	4: 115,603,793 (GRCm39)	N157S	probably damaging	Het
Ets1	G	A	9: 32,641,474 (GRCm39)	G109D	probably damaging	Het
Fbln5	G	A	12: 101,734,754 (GRCm39)	R173C	probably damaging	Het
Fchsd1	G	A	18: 38,096,035 (GRCm39)	P525L	probably benign	Het
Gmppa	G	A	1: 75,416,025 (GRCm39)	V156I	probably damaging	Het
Gtpbp1	A	G	15: 79,603,482 (GRCm39)	D182G		Het
Ift140	T	A	17: 25,254,809 (GRCm39)	S430T	probably benign	Het
Kat7	G	C	11: 95,185,392 (GRCm39)	C161W	probably damaging	Het
Lipk	T	A	19: 33,996,184 (GRCm39)	M32K	probably damaging	Het
Macf1	C	A	4: 123,248,944 (GRCm39)	A7196S	probably damaging	Het
Mroh2b	T	A	15: 4,964,782 (GRCm39)	S926T	probably damaging	Het
Nbn	G	T	4: 15,981,555 (GRCm39)	R549I	probably damaging	Het
Nfu1	T	C	6: 86,996,400 (GRCm39)	I117T	probably damaging	Het
Or51f1	T	C	7: 102,506,139 (GRCm39)	T117A	probably benign	Het
Or7a39	A	G	10: 78,715,155 (GRCm39)	T50A	probably benign	Het
Parp1	T	C	1: 180,422,275 (GRCm39)	L778P	probably damaging	Het
Pbld2	G	T	10: 62,888,069 (GRCm39)	V125F	probably benign	Het
Prkag2	A	G	5: 25,085,680 (GRCm39)		probably null	Het
Prss54	A	G	8: 96,286,351 (GRCm39)	F241L	probably benign	Het
Rnf121	T	C	7: 101,678,316 (GRCm39)	D177G	probably damaging	Het
Slc12a7	G	A	13: 73,933,241 (GRCm39)	V100I	probably benign	Het
Slc28a1	C	T	7: 80,774,719 (GRCm39)	L189F	possibly damaging	Het
Slc35a3	T	C	3: 116,488,219 (GRCm39)	Q16R	probably damaging	Het
Snap91	A	G	9: 86,686,577 (GRCm39)	F354L	probably damaging	Het
Steap2	A	G	5: 5,723,539 (GRCm39)	I447T	probably benign	Het
Tagap	T	A	17: 8,147,602 (GRCm39)	I104N	probably damaging	Het
Tas1r2	A	G	4: 139,387,318 (GRCm39)	D259G	probably benign	Het
Tgm3	T	C	2: 129,886,452 (GRCm39)	S558P	probably benign	Het
Tuba3a	A	G	6: 125,258,018 (GRCm39)	V324A	probably damaging	Het
Vmn1r238	T	G	18: 3,123,232 (GRCm39)	I61L	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,451 (GRCm39)	T252A	probably benign	Het
Vmp1	A	G	11: 86,492,885 (GRCm39)	V308A	probably damaging	Het
Wdfy4	A	C	14: 32,874,611 (GRCm39)	V159G		Het
Zfp180	A	G	7: 23,804,687 (GRCm39)	T369A	possibly damaging	Het
Zfp827	A	G	8: 79,755,316 (GRCm39)	M1V	probably null	Het
Zmym4	A	G	4: 126,787,198 (GRCm39)	I1031T	probably damaging	Het

Other mutations in Lum

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Lum	APN	10	97,404,547 (GRCm39)	missense	probably damaging	1.00
IGL01394:Lum	APN	10	97,404,834 (GRCm39)	missense	probably damaging	1.00
IGL02160:Lum	APN	10	97,404,443 (GRCm39)	missense	probably damaging	0.96
IGL02659:Lum	APN	10	97,404,609 (GRCm39)	missense	probably benign
PIT4305001:Lum	UTSW	10	97,404,738 (GRCm39)	missense	probably damaging	1.00
R0352:Lum	UTSW	10	97,404,471 (GRCm39)	missense	probably damaging	0.97
R0403:Lum	UTSW	10	97,407,905 (GRCm39)	missense	probably benign	0.05
R1446:Lum	UTSW	10	97,404,252 (GRCm39)	missense	possibly damaging	0.88
R2760:Lum	UTSW	10	97,404,633 (GRCm39)	missense	probably benign	0.16
R4154:Lum	UTSW	10	97,404,815 (GRCm39)	missense	probably damaging	1.00
R4492:Lum	UTSW	10	97,404,300 (GRCm39)	missense	probably damaging	1.00
R7601:Lum	UTSW	10	97,404,168 (GRCm39)	missense	probably damaging	1.00
R8058:Lum	UTSW	10	97,404,425 (GRCm39)	missense	probably benign	0.00
R9334:Lum	UTSW	10	97,404,347 (GRCm39)	missense	probably damaging	1.00
R9360:Lum	UTSW	10	97,404,752 (GRCm39)	nonsense	probably null
R9800:Lum	UTSW	10	97,404,157 (GRCm39)	missense	probably benign	0.00
X0065:Lum	UTSW	10	97,404,842 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCTTGGCATTAGTCGGTAG -3'
(R):5'- TCAGCTGTAGGTCTTGCAGG -3'

Sequencing Primer
(F):5'- TGTCAGTGGCCAATACTACG -3'
(R):5'- CAGGGACTTTGGAAGTGGACC -3'

Posted On

2021-03-08