Incidental Mutation 'R2760:Lum'
| ID |
254013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lum
|
| Ensembl Gene |
ENSMUSG00000036446 |
| Gene Name |
lumican |
| Synonyms |
Ldc, SLRR2D |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R2760 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
97401363-97408565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97404633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 176
(V176A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038160]
|
| AlphaFold |
P51885 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038160
AA Change: V176A
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000040877
Gene: ENSMUSG00000036446
AA Change: V176A
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,097,641 (GRCm39) |
V796I |
probably benign |
Het |
| Btnl1 |
T |
G |
17: 34,600,012 (GRCm39) |
W172G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,176,899 (GRCm39) |
T21A |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,525,837 (GRCm39) |
H257R |
probably benign |
Het |
| Frmpd1 |
A |
C |
4: 45,244,667 (GRCm39) |
I119L |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,501,413 (GRCm39) |
Y819* |
probably null |
Het |
| Ildr2 |
A |
G |
1: 166,131,175 (GRCm39) |
R344G |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,291 (GRCm39) |
I642V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Nobox |
A |
G |
6: 43,281,040 (GRCm39) |
L478P |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,692 (GRCm39) |
M1K |
probably null |
Het |
| Or4a67 |
T |
A |
2: 88,597,980 (GRCm39) |
R226S |
possibly damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,583 (GRCm39) |
H248R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,802 (GRCm39) |
V225A |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,876 (GRCm39) |
Y279F |
probably damaging |
Het |
| Rtn1 |
A |
T |
12: 72,455,136 (GRCm39) |
C64S |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,029,260 (GRCm39) |
Y285C |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,195,997 (GRCm39) |
M335I |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,927,840 (GRCm39) |
I648K |
probably damaging |
Het |
| Ube3d |
T |
C |
9: 86,305,027 (GRCm39) |
I272V |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,566,622 (GRCm39) |
V1180A |
probably damaging |
Het |
| Vill |
T |
C |
9: 118,895,950 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,901 (GRCm39) |
I229T |
probably benign |
Het |
| Zbtb8b |
A |
T |
4: 129,326,293 (GRCm39) |
L291M |
probably benign |
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 |
|
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'- CAGTGGCTCATTCTTGACCAC -3'
(R):5'- TATTGCAGCCCAGTGAAGC -3'
Sequencing Primer
(F):5'- CCAAGATCAAAGGAAAGGTTTTCTC -3'
(R):5'- CGCTTGAAGTACTCATCCGGAATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation