Mutagenetix > Incidental Mutation

Incidental Mutation 'R9334:Lum'

707006

Institutional Source

Beutler Lab

Gene Symbol

Lum

Ensembl Gene

ENSMUSG00000036446

Gene Name

lumican

Synonyms

Ldc, SLRR2D

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9334 (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 97404347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 81 (I81F)

Ref Sequence

ENSEMBL: ENSMUSP00000040877 (fasta)

Gene Model

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

AlphaFold

P51885

Predicted Effect

probably damaging
Transcript: ENSMUST00000038160
AA Change: I81F

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

SMART Domains

Protein: ENSMUSP00000040877
Gene: ENSMUSG00000036446
AA Change: I81F

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,739,251 (GRCm39)	I346N	probably damaging	Het
Adam6b	A	C	12: 113,454,768 (GRCm39)	E528D	probably damaging	Het
Ang	A	G	14: 51,339,017 (GRCm39)	M53V	possibly damaging	Het
Ankrd26	G	A	6: 118,509,262 (GRCm39)	A601V	probably benign	Het
Atp6v0d2	A	G	4: 19,890,695 (GRCm39)	L155P	probably damaging	Het
Cacna1a	T	C	8: 85,296,594 (GRCm39)	V1204A	probably damaging	Het
Car4	A	G	11: 84,855,415 (GRCm39)	I183V	probably benign	Het
Ccdc149	G	T	5: 52,578,171 (GRCm39)	A87E	possibly damaging	Het
Ccdc88b	A	G	19: 6,833,541 (GRCm39)	M208T	possibly damaging	Het
Ccnt2	T	C	1: 127,723,046 (GRCm39)	L162S	probably damaging	Het
Cd27	A	G	6: 125,213,718 (GRCm39)		probably null	Het
Cfap44	C	A	16: 44,239,654 (GRCm39)	T567K	probably damaging	Het
Cpne5	C	T	17: 29,423,673 (GRCm39)	V152M	probably benign	Het
Cyp2u1	C	T	3: 131,092,065 (GRCm39)	V152M	probably damaging	Het
Dnajc13	A	T	9: 104,051,659 (GRCm39)	F1733I	probably benign	Het
Dop1a	A	G	9: 86,403,027 (GRCm39)	Y1409C	probably damaging	Het
Ecm2	T	C	13: 49,677,815 (GRCm39)	M367T	probably benign	Het
Eif4g2	A	G	7: 110,674,031 (GRCm39)	S658P	possibly damaging	Het
Exoc3l4	T	C	12: 111,397,117 (GRCm39)	L666P	probably damaging	Het
Fbxl4	G	A	4: 22,376,778 (GRCm39)	M71I	probably damaging	Het
Fbxw10	T	C	11: 62,765,910 (GRCm39)	S727P	possibly damaging	Het
Fem1b	A	T	9: 62,703,604 (GRCm39)	L552*	probably null	Het
Filip1	A	T	9: 79,725,739 (GRCm39)	V960D	probably benign	Het
Glipr1l3	A	T	10: 111,979,948 (GRCm39)	M198K	probably benign	Het
Gm19410	T	A	8: 36,270,722 (GRCm39)	C1216*	probably null	Het
Gmps	T	A	3: 63,889,864 (GRCm39)	V81E	probably damaging	Het
Gpr150	G	T	13: 76,204,103 (GRCm39)	Q281K	probably benign	Het
Grsf1	A	G	5: 88,820,469 (GRCm39)	V221A	probably damaging	Het
Gsc	T	A	12: 104,439,353 (GRCm39)	I8F	probably damaging	Het
Homer2	A	T	7: 81,261,078 (GRCm39)	C284*	probably null	Het
Hrg	T	A	16: 22,780,061 (GRCm39)	H446Q	unknown	Het
Jag1	C	T	2: 136,943,593 (GRCm39)	R201H	probably damaging	Het
Kctd15	C	T	7: 34,341,483 (GRCm39)	R148H	possibly damaging	Het
Klhdc7a	G	A	4: 139,693,493 (GRCm39)	R485C	probably benign	Het
Ldhd	T	A	8: 112,353,980 (GRCm39)	I407F	probably benign	Het
Lgals12	G	A	19: 7,578,086 (GRCm39)	R192C	probably benign	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Map1b	G	T	13: 99,568,148 (GRCm39)	D1524E	unknown	Het
Marveld3	A	G	8: 110,675,036 (GRCm39)	L260S	probably damaging	Het
Mms19	C	T	19: 41,942,203 (GRCm39)	R555H	probably benign	Het
Mrpl37	G	A	4: 106,921,605 (GRCm39)	T208I	probably benign	Het
Mug1	A	T	6: 121,838,490 (GRCm39)	T498S	probably benign	Het
Myo3b	T	C	2: 70,047,360 (GRCm39)	C289R	probably damaging	Het
Myo7a	A	T	7: 97,716,369 (GRCm39)	F1459Y	probably damaging	Het
Neurl4	C	A	11: 69,796,792 (GRCm39)	R518S	probably damaging	Het
Nmnat2	T	G	1: 152,949,585 (GRCm39)	V43G	probably damaging	Het
Or2b11	T	C	11: 59,462,272 (GRCm39)	Y98C	probably damaging	Het
Or2n1b	T	A	17: 38,459,840 (GRCm39)	F120L	probably benign	Het
Or6c6c	A	G	10: 129,541,683 (GRCm39)	N312S	probably benign	Het
Otog	A	G	7: 45,909,353 (GRCm39)	T608A	possibly damaging	Het
Pck2	G	A	14: 55,785,283 (GRCm39)	R482Q	probably damaging	Het
Pcx	G	A	19: 4,670,532 (GRCm39)	M1013I	probably benign	Het
Pex13	A	G	11: 23,605,630 (GRCm39)	M200T	probably benign	Het
Pigt	CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	2: 164,349,420 (GRCm39)		probably null	Het
Pramel32	A	T	4: 88,548,186 (GRCm39)	I73K	probably damaging	Het
Ptpn4	T	C	1: 119,730,114 (GRCm39)	H26R	probably benign	Het
Ralgps2	T	A	1: 156,715,599 (GRCm39)	E72V	probably damaging	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Scube1	A	T	15: 83,512,264 (GRCm39)	C396S	possibly damaging	Het
Sec23b	T	A	2: 144,410,550 (GRCm39)	N283K	possibly damaging	Het
Setx	T	A	2: 29,044,032 (GRCm39)	Y1800*	probably null	Het
Sgce	G	T	6: 4,707,205 (GRCm39)	S213R	probably damaging	Het
Skic3	C	A	13: 76,281,076 (GRCm39)	T704N	possibly damaging	Het
Slc36a2	T	C	11: 55,075,865 (GRCm39)		probably benign	Het
Sult5a1	A	T	8: 123,875,146 (GRCm39)	D129E	probably damaging	Het
Tacr1	A	T	6: 82,380,913 (GRCm39)	H108L	probably damaging	Het
Tnfsf10	T	A	3: 27,389,496 (GRCm39)	Y186N	probably damaging	Het
Unc80	T	C	1: 66,688,919 (GRCm39)	S2428P	possibly damaging	Het
Vwf	G	A	6: 125,654,909 (GRCm39)	R2535H		Het
Zfp532	A	G	18: 65,756,128 (GRCm39)	I20M	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
R8747:Lum	UTSW	10	97,404,351 (GRCm39)	missense	possibly damaging	0.88
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'- CTTGCCTTGGCATTAGTCGG -3'
(R):5'- TCTTGCAGGGACTTTGGAAG -3'

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

Posted On

2022-04-18