Incidental Mutation 'R1593:Lamb3'
| ID |
175596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamb3
|
| Ensembl Gene |
ENSMUSG00000026639 |
| Gene Name |
laminin, beta 3 |
| Synonyms |
nicein, 125kDa |
| MMRRC Submission |
039630-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.694)
|
| Stock # |
R1593 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
192976661-193026186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 193013104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 443
(E443G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016315]
[ENSMUST00000159955]
[ENSMUST00000192322]
[ENSMUST00000194677]
|
| AlphaFold |
Q61087 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016315
AA Change: E443G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: E443G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
248 |
7.63e-84 |
SMART |
|
EGF_Lam
|
250 |
310 |
1.67e-7 |
SMART |
|
EGF_Lam
|
313 |
373 |
1.14e-9 |
SMART |
|
EGF_Lam
|
376 |
425 |
5.56e-13 |
SMART |
|
EGF_Lam
|
428 |
475 |
6.05e-14 |
SMART |
|
EGF_Lam
|
478 |
528 |
5e-6 |
SMART |
|
EGF_Lam
|
531 |
575 |
3.01e-9 |
SMART |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
763 |
N/A |
INTRINSIC |
|
coiled coil region
|
830 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
949 |
979 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159955
AA Change: E443G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: E443G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
248 |
7.63e-84 |
SMART |
|
EGF_Lam
|
250 |
310 |
1.67e-7 |
SMART |
|
EGF_Lam
|
313 |
373 |
1.14e-9 |
SMART |
|
EGF_Lam
|
376 |
425 |
5.56e-13 |
SMART |
|
EGF_Lam
|
428 |
475 |
6.05e-14 |
SMART |
|
EGF_Lam
|
478 |
528 |
5e-6 |
SMART |
|
EGF_Lam
|
531 |
575 |
3.01e-9 |
SMART |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
763 |
N/A |
INTRINSIC |
|
coiled coil region
|
830 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
949 |
979 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192322
|
| SMART Domains |
Protein: ENSMUSP00000141302
Gene: ENSMUSG00000026639
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
244 |
2.9e-80 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194677
AA Change: E443G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: E443G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
248 |
7.63e-84 |
SMART |
|
EGF_Lam
|
250 |
310 |
1.67e-7 |
SMART |
|
EGF_Lam
|
313 |
373 |
1.14e-9 |
SMART |
|
EGF_Lam
|
376 |
425 |
5.56e-13 |
SMART |
|
EGF_Lam
|
428 |
475 |
6.05e-14 |
SMART |
|
EGF_Lam
|
478 |
528 |
5e-6 |
SMART |
|
EGF_Lam
|
531 |
575 |
3.01e-9 |
SMART |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
763 |
N/A |
INTRINSIC |
|
coiled coil region
|
830 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
949 |
979 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous intracisternal A particle sequence insertion exhibit blistering of the skin and mucosal surfaces with abnormal hemidesmosomes. Mutants die neonatally, usually without feeding. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
T |
11: 100,372,581 (GRCm39) |
I902N |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,214,134 (GRCm39) |
D88G |
probably damaging |
Het |
| Adam1a |
A |
C |
5: 121,657,706 (GRCm39) |
I529S |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,638,435 (GRCm39) |
V838A |
unknown |
Het |
| Arrdc2 |
T |
C |
8: 71,289,764 (GRCm39) |
Y280C |
probably damaging |
Het |
| Atg10 |
T |
C |
13: 91,302,380 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc136 |
T |
C |
6: 29,415,583 (GRCm39) |
S699P |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,769,379 (GRCm39) |
V462L |
possibly damaging |
Het |
| Clcn6 |
C |
T |
4: 148,099,051 (GRCm39) |
A431T |
probably benign |
Het |
| Cntn6 |
T |
G |
6: 104,809,541 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Ctr9 |
T |
C |
7: 110,642,060 (GRCm39) |
F296S |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,183,986 (GRCm39) |
|
probably null |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Epha6 |
A |
T |
16: 60,245,267 (GRCm39) |
F311I |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,798,582 (GRCm39) |
T150S |
possibly damaging |
Het |
| Exoc2 |
C |
A |
13: 31,040,744 (GRCm39) |
R758L |
possibly damaging |
Het |
| Exosc7 |
G |
C |
9: 122,961,058 (GRCm39) |
V242L |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,921,315 (GRCm39) |
D190G |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,894 (GRCm39) |
S583P |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,477,999 (GRCm39) |
Y60C |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,091,150 (GRCm39) |
I815N |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,113 (GRCm39) |
L257Q |
probably damaging |
Het |
| Hectd3 |
C |
A |
4: 116,854,217 (GRCm39) |
T289K |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,871,817 (GRCm39) |
V207A |
probably damaging |
Het |
| Meis2 |
T |
A |
2: 115,830,745 (GRCm39) |
D256V |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,686 (GRCm38) |
N1520S |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,387,281 (GRCm39) |
R719G |
probably null |
Het |
| Or6c210 |
A |
T |
10: 129,496,094 (GRCm39) |
R140* |
probably null |
Het |
| Pabpc6 |
A |
T |
17: 9,886,742 (GRCm39) |
M603K |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,486,012 (GRCm39) |
R1862L |
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,337,381 (GRCm39) |
I399N |
possibly damaging |
Het |
| Pon2 |
T |
C |
6: 5,273,003 (GRCm39) |
D122G |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,579,425 (GRCm39) |
W378R |
unknown |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,488 (GRCm39) |
E389D |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rarg |
A |
G |
15: 102,148,376 (GRCm39) |
F233L |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,453,490 (GRCm39) |
F90L |
possibly damaging |
Het |
| Rrp12 |
T |
A |
19: 41,851,680 (GRCm39) |
H1285L |
probably benign |
Het |
| Slc16a13 |
C |
A |
11: 70,109,908 (GRCm39) |
A198S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,988,059 (GRCm39) |
D441G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,414 (GRCm39) |
F1099S |
probably damaging |
Het |
| Tex19.1 |
T |
A |
11: 121,038,079 (GRCm39) |
W146R |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,418,445 (GRCm39) |
D197G |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,014,593 (GRCm39) |
H644R |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,778,910 (GRCm39) |
V352A |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,581,675 (GRCm39) |
K233E |
probably damaging |
Het |
| Vsir |
A |
G |
10: 60,193,737 (GRCm39) |
T67A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,304,248 (GRCm39) |
N487S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,786 (GRCm39) |
N99S |
probably damaging |
Het |
| Zfp583 |
C |
T |
7: 6,320,008 (GRCm39) |
G335S |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,354,675 (GRCm39) |
V98E |
possibly damaging |
Het |
|
| Other mutations in Lamb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Lamb3
|
APN |
1 |
193,002,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00898:Lamb3
|
APN |
1 |
193,021,191 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01599:Lamb3
|
APN |
1 |
193,025,720 (GRCm39) |
missense |
probably benign |
|
|
IGL02108:Lamb3
|
APN |
1 |
193,014,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Lamb3
|
APN |
1 |
193,010,941 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02437:Lamb3
|
APN |
1 |
193,010,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Lamb3
|
APN |
1 |
193,014,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02677:Lamb3
|
APN |
1 |
193,021,830 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02815:Lamb3
|
APN |
1 |
193,007,863 (GRCm39) |
splice site |
probably benign |
|
|
G1patch:Lamb3
|
UTSW |
1 |
192,986,890 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0238:Lamb3
|
UTSW |
1 |
193,003,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Lamb3
|
UTSW |
1 |
193,003,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Lamb3
|
UTSW |
1 |
193,003,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Lamb3
|
UTSW |
1 |
193,003,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Lamb3
|
UTSW |
1 |
193,017,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Lamb3
|
UTSW |
1 |
193,017,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Lamb3
|
UTSW |
1 |
193,002,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Lamb3
|
UTSW |
1 |
193,025,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0647:Lamb3
|
UTSW |
1 |
193,013,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0669:Lamb3
|
UTSW |
1 |
193,014,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Lamb3
|
UTSW |
1 |
193,013,216 (GRCm39) |
nonsense |
probably null |
|
|
R1552:Lamb3
|
UTSW |
1 |
193,013,067 (GRCm39) |
splice site |
probably null |
|
|
R1560:Lamb3
|
UTSW |
1 |
193,021,710 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1599:Lamb3
|
UTSW |
1 |
193,002,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Lamb3
|
UTSW |
1 |
193,017,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1848:Lamb3
|
UTSW |
1 |
193,016,924 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2117:Lamb3
|
UTSW |
1 |
193,016,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2147:Lamb3
|
UTSW |
1 |
193,010,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2148:Lamb3
|
UTSW |
1 |
193,010,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2879:Lamb3
|
UTSW |
1 |
193,013,092 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3019:Lamb3
|
UTSW |
1 |
193,013,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4380:Lamb3
|
UTSW |
1 |
193,013,683 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4648:Lamb3
|
UTSW |
1 |
193,013,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4758:Lamb3
|
UTSW |
1 |
193,022,269 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4790:Lamb3
|
UTSW |
1 |
193,022,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4895:Lamb3
|
UTSW |
1 |
193,014,622 (GRCm39) |
nonsense |
probably null |
|
|
R5316:Lamb3
|
UTSW |
1 |
193,012,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5457:Lamb3
|
UTSW |
1 |
193,008,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5952:Lamb3
|
UTSW |
1 |
193,014,670 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5965:Lamb3
|
UTSW |
1 |
193,025,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Lamb3
|
UTSW |
1 |
193,017,782 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6522:Lamb3
|
UTSW |
1 |
193,017,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6725:Lamb3
|
UTSW |
1 |
192,986,890 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6791:Lamb3
|
UTSW |
1 |
193,017,169 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6828:Lamb3
|
UTSW |
1 |
193,017,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7143:Lamb3
|
UTSW |
1 |
192,986,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Lamb3
|
UTSW |
1 |
193,002,848 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7439:Lamb3
|
UTSW |
1 |
193,014,474 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7556:Lamb3
|
UTSW |
1 |
193,014,757 (GRCm39) |
missense |
probably benign |
|
|
R8051:Lamb3
|
UTSW |
1 |
193,012,375 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8220:Lamb3
|
UTSW |
1 |
193,016,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Lamb3
|
UTSW |
1 |
193,006,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Lamb3
|
UTSW |
1 |
193,013,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Lamb3
|
UTSW |
1 |
193,003,363 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8885:Lamb3
|
UTSW |
1 |
193,017,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8893:Lamb3
|
UTSW |
1 |
193,014,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:Lamb3
|
UTSW |
1 |
193,021,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Lamb3
|
UTSW |
1 |
193,014,525 (GRCm39) |
nonsense |
probably null |
|
|
R9043:Lamb3
|
UTSW |
1 |
193,007,919 (GRCm39) |
nonsense |
probably null |
|
|
R9219:Lamb3
|
UTSW |
1 |
193,010,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Lamb3
|
UTSW |
1 |
193,014,665 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9402:Lamb3
|
UTSW |
1 |
193,013,704 (GRCm39) |
missense |
|
|
|
R9415:Lamb3
|
UTSW |
1 |
193,008,319 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9555:Lamb3
|
UTSW |
1 |
193,011,113 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
X0066:Lamb3
|
UTSW |
1 |
193,021,722 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGAGTGAGAGTCTGGGACAC -3'
(R):5'- TATGGGAAACAAGCTCGGCCCAAG -3'
Sequencing Primer
(F):5'- GGGTTACTCTCTCCAGTAAGTCAG -3'
(R):5'- ATCCCTCTGTGACTGAAGAGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation