Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Lum'

158890

Institutional Source

Beutler Lab

Gene Symbol

Lum

Ensembl Gene

ENSMUSG00000036446

Gene Name

lumican

Synonyms

Ldc, SLRR2D

MMRRC Submission

039501-MU

Accession Numbers

Essential gene?

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

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97401363-97408565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97404252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 49 (T49I)

Ref Sequence

ENSEMBL: ENSMUSP00000040877 (fasta)

Gene Model

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

AlphaFold

P51885

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038160
AA Change: T49I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040877
Gene: ENSMUSG00000036446
AA Change: T49I

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: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Ahcyl2	T	C	6: 29,891,239 (GRCm39)	S448P	probably damaging	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Arpc1a	A	G	5: 145,037,896 (GRCm39)		probably null	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 57,922,560 (GRCm39)	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,704,727 (GRCm39)	F252L	probably benign	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pigw	A	C	11: 84,769,186 (GRCm39)	S48A	probably benign	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Retreg2	T	A	1: 75,120,103 (GRCm39)	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Skint4	T	A	4: 111,975,311 (GRCm39)	H82Q	probably benign	Het
Srbd1	T	C	17: 86,446,580 (GRCm39)	K60E	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	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
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
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'- CCTGTTTCCACCCAAAGGTGTGAAC -3'
(R):5'- GGTTGTGGTCAAGAATGAGCCACTG -3'

Sequencing Primer
(F):5'- AGACACTATTTTGGAGGCACTG -3'
(R):5'- GACGTTCTCAAAGGCCTTCT -3'

Posted On

2014-03-14