Incidental Mutation 'R1772:Lamb1'
| ID |
196731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamb1
|
| Ensembl Gene |
ENSMUSG00000002900 |
| Gene Name |
laminin B1 |
| Synonyms |
Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1 |
| MMRRC Submission |
039803-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31315233-31379643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31328524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 163
(Y163H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002979]
[ENSMUST00000169088]
|
| AlphaFold |
P02469 |
| PDB Structure |
Laminin beta1 LN-LE1-4 structure [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002979
AA Change: Y211H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: Y211H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
|
LamNT
|
77 |
317 |
3.24e-96 |
SMART |
|
EGF_Lam
|
319 |
380 |
1.34e-6 |
SMART |
|
EGF_Lam
|
383 |
443 |
1.33e-10 |
SMART |
|
EGF_Lam
|
446 |
503 |
2.89e-11 |
SMART |
|
EGF_Lam
|
506 |
555 |
2.89e-11 |
SMART |
|
EGF_Lam
|
558 |
602 |
3.4e-8 |
SMART |
|
EGF_Lam
|
821 |
866 |
4.99e-15 |
SMART |
|
EGF_Lam
|
869 |
912 |
2.38e-12 |
SMART |
|
EGF_Lam
|
915 |
962 |
2.4e-8 |
SMART |
|
EGF_Lam
|
965 |
1021 |
1.41e-5 |
SMART |
|
EGF_Lam
|
1024 |
1073 |
4.81e-8 |
SMART |
|
EGF_Lam
|
1076 |
1129 |
3.81e-11 |
SMART |
|
EGF_Lam
|
1132 |
1177 |
5.61e-9 |
SMART |
|
EGF_Lam
|
1180 |
1224 |
2.89e-11 |
SMART |
|
coiled coil region
|
1329 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1468 |
1480 |
N/A |
INTRINSIC |
|
coiled coil region
|
1497 |
1551 |
N/A |
INTRINSIC |
|
coiled coil region
|
1600 |
1826 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164009
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164919
AA Change: Y211H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132616
Gene: ENSMUSG00000002900
AA Change: Y211H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
|
LamNT
|
77 |
317 |
3.24e-96 |
SMART |
|
EGF_Lam
|
319 |
380 |
1.34e-6 |
SMART |
|
EGF_Lam
|
383 |
443 |
1.33e-10 |
SMART |
|
EGF_Lam
|
446 |
503 |
2.89e-11 |
SMART |
|
EGF_Lam
|
506 |
555 |
2.89e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169065
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169088
AA Change: Y163H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: Y163H
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
29 |
269 |
3.24e-96 |
SMART |
|
EGF_Lam
|
271 |
332 |
1.34e-6 |
SMART |
|
EGF_Lam
|
335 |
395 |
1.33e-10 |
SMART |
|
EGF_Lam
|
398 |
455 |
2.89e-11 |
SMART |
|
EGF_Lam
|
458 |
507 |
2.89e-11 |
SMART |
|
EGF_Lam
|
510 |
554 |
3.4e-8 |
SMART |
|
EGF_Lam
|
773 |
818 |
4.99e-15 |
SMART |
|
EGF_Lam
|
821 |
864 |
2.38e-12 |
SMART |
|
EGF_Lam
|
867 |
914 |
2.4e-8 |
SMART |
|
EGF_Lam
|
917 |
973 |
1.41e-5 |
SMART |
|
EGF_Lam
|
976 |
1025 |
4.81e-8 |
SMART |
|
EGF_Lam
|
1028 |
1081 |
3.81e-11 |
SMART |
|
EGF_Lam
|
1084 |
1129 |
5.61e-9 |
SMART |
|
EGF_Lam
|
1132 |
1176 |
2.89e-11 |
SMART |
|
coiled coil region
|
1281 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1432 |
N/A |
INTRINSIC |
|
coiled coil region
|
1449 |
1503 |
N/A |
INTRINSIC |
|
coiled coil region
|
1552 |
1778 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7730 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.5%
|
| Validation Efficiency |
97% (107/110) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a gene trapped allele lack basement membranes and fail to survive past E5.5. Mice heterozygous for a spontaneous mutation exhibit dystonis with impaired neuron firing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,258,465 (GRCm39) |
|
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,693,383 (GRCm39) |
K179E |
probably damaging |
Het |
| Angptl7 |
G |
A |
4: 148,581,883 (GRCm39) |
R168C |
probably damaging |
Het |
| Atp8b1 |
T |
A |
18: 64,706,563 (GRCm39) |
I208F |
possibly damaging |
Het |
| Bco1 |
A |
G |
8: 117,857,347 (GRCm39) |
Y438C |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,013,581 (GRCm39) |
S1937P |
probably damaging |
Het |
| Btrc |
A |
C |
19: 45,501,100 (GRCm39) |
K218Q |
probably damaging |
Het |
| Cct8l1 |
G |
A |
5: 25,722,697 (GRCm39) |
V471M |
probably damaging |
Het |
| Cd180 |
C |
T |
13: 102,842,750 (GRCm39) |
L599F |
probably benign |
Het |
| Cd300e |
T |
C |
11: 114,945,344 (GRCm39) |
N150S |
probably benign |
Het |
| Clcn1 |
C |
A |
6: 42,271,079 (GRCm39) |
T281K |
probably damaging |
Het |
| Cnnm3 |
T |
C |
1: 36,558,038 (GRCm39) |
S417P |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,804,776 (GRCm39) |
S1862R |
probably benign |
Het |
| Cspg5 |
A |
T |
9: 110,091,206 (GRCm39) |
N432Y |
probably damaging |
Het |
| Cyp2r1 |
T |
A |
7: 114,152,451 (GRCm39) |
I169F |
probably damaging |
Het |
| D130043K22Rik |
T |
A |
13: 25,059,982 (GRCm39) |
S618T |
probably damaging |
Het |
| Diaph3 |
G |
A |
14: 87,202,985 (GRCm39) |
P635L |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,484,485 (GRCm39) |
I38V |
possibly damaging |
Het |
| Dlk1 |
T |
G |
12: 109,425,685 (GRCm39) |
V186G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,330,508 (GRCm39) |
|
probably benign |
Het |
| Dnajc17 |
G |
A |
2: 119,014,164 (GRCm39) |
R132* |
probably null |
Het |
| Dock9 |
G |
T |
14: 121,847,210 (GRCm39) |
N1042K |
probably benign |
Het |
| Dok7 |
A |
T |
5: 35,243,994 (GRCm39) |
Q511L |
probably damaging |
Het |
| Espnl |
G |
A |
1: 91,272,325 (GRCm39) |
E562K |
possibly damaging |
Het |
| Evi5 |
G |
A |
5: 107,943,707 (GRCm39) |
T562I |
probably benign |
Het |
| Exd2 |
T |
A |
12: 80,536,253 (GRCm39) |
D294E |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,245,148 (GRCm39) |
D246E |
possibly damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,268,650 (GRCm39) |
W247R |
possibly damaging |
Het |
| Fcer1a |
A |
G |
1: 173,053,004 (GRCm39) |
I64T |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,804,600 (GRCm39) |
Q1903K |
possibly damaging |
Het |
| Fmn1 |
A |
G |
2: 113,195,700 (GRCm39) |
S467G |
unknown |
Het |
| Fndc7 |
T |
A |
3: 108,777,850 (GRCm39) |
T369S |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,490,994 (GRCm39) |
|
probably benign |
Het |
| Gak |
A |
T |
5: 108,754,758 (GRCm39) |
H289Q |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,252,876 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,163,987 (GRCm39) |
N437S |
probably benign |
Het |
| Gk5 |
G |
A |
9: 96,032,850 (GRCm39) |
|
probably null |
Het |
| Hid1 |
A |
T |
11: 115,239,299 (GRCm39) |
V788E |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,439,319 (GRCm39) |
T5505A |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,844,822 (GRCm39) |
M865K |
probably benign |
Het |
| Katnal2 |
G |
A |
18: 77,090,233 (GRCm39) |
T258I |
probably damaging |
Het |
| Kdm3b |
A |
T |
18: 34,936,557 (GRCm39) |
I280L |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,409,787 (GRCm39) |
V382A |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 107,114,640 (GRCm39) |
|
probably benign |
Het |
| Klhl10 |
A |
G |
11: 100,333,022 (GRCm39) |
I56V |
probably benign |
Het |
| Klk6 |
C |
T |
7: 43,478,695 (GRCm39) |
Q201* |
probably null |
Het |
| Klra3 |
A |
T |
6: 130,300,671 (GRCm39) |
S233T |
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,082,131 (GRCm39) |
M223K |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,936,220 (GRCm39) |
E632K |
probably benign |
Het |
| Lipo3 |
A |
G |
19: 33,764,821 (GRCm39) |
I11T |
probably benign |
Het |
| Lix1l |
T |
A |
3: 96,531,207 (GRCm39) |
H333Q |
possibly damaging |
Het |
| Mal2 |
T |
A |
15: 54,451,783 (GRCm39) |
M68K |
probably damaging |
Het |
| Map2k2 |
T |
C |
10: 80,956,934 (GRCm39) |
I104T |
probably damaging |
Het |
| Matn2 |
T |
C |
15: 34,428,931 (GRCm39) |
V765A |
probably damaging |
Het |
| Mptx2 |
T |
A |
1: 173,102,040 (GRCm39) |
K216N |
probably damaging |
Het |
| Mup5 |
C |
T |
4: 61,750,578 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,419,855 (GRCm39) |
Y2494H |
probably damaging |
Het |
| Myh3 |
G |
A |
11: 66,990,220 (GRCm39) |
D1622N |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,177,331 (GRCm39) |
I609T |
possibly damaging |
Het |
| Ndst1 |
G |
A |
18: 60,835,909 (GRCm39) |
T458I |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,125,689 (GRCm39) |
Y3622N |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,090,396 (GRCm39) |
Y108H |
probably benign |
Het |
| Or13c3 |
T |
G |
4: 52,855,730 (GRCm39) |
K261T |
probably benign |
Het |
| Or1a1b |
T |
C |
11: 74,097,398 (GRCm39) |
I215V |
probably benign |
Het |
| Or52e19 |
T |
C |
7: 102,959,449 (GRCm39) |
Y174H |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,641,938 (GRCm39) |
I1373F |
possibly damaging |
Het |
| Pear1 |
A |
G |
3: 87,661,799 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
C |
T |
3: 31,015,969 (GRCm39) |
A81T |
probably damaging |
Het |
| Pmepa1 |
A |
G |
2: 173,076,153 (GRCm39) |
S105P |
probably damaging |
Het |
| Ppp6r1 |
T |
C |
7: 4,645,030 (GRCm39) |
I248V |
probably benign |
Het |
| Prdm4 |
G |
A |
10: 85,729,256 (GRCm39) |
T717I |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,168,566 (GRCm39) |
T669A |
probably benign |
Het |
| Ptpn5 |
T |
A |
7: 46,740,516 (GRCm39) |
I96F |
probably benign |
Het |
| Ptpro |
T |
C |
6: 137,407,741 (GRCm39) |
L922P |
probably damaging |
Het |
| Reck |
A |
T |
4: 43,890,982 (GRCm39) |
H40L |
probably benign |
Het |
| Rreb1 |
T |
A |
13: 38,114,899 (GRCm39) |
C753S |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,448,346 (GRCm39) |
L3464P |
probably damaging |
Het |
| Samsn1 |
A |
T |
16: 75,667,663 (GRCm39) |
D304E |
probably benign |
Het |
| Scgb2b3 |
T |
C |
7: 31,059,621 (GRCm39) |
N51S |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,088,515 (GRCm39) |
S341P |
probably damaging |
Het |
| Siglece |
T |
C |
7: 43,308,717 (GRCm39) |
D212G |
probably damaging |
Het |
| Sirpa |
A |
G |
2: 129,458,376 (GRCm39) |
T331A |
probably damaging |
Het |
| Spata21 |
T |
C |
4: 140,838,607 (GRCm39) |
S553P |
possibly damaging |
Het |
| Speer4b |
T |
A |
5: 27,705,236 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,247,376 (GRCm39) |
D552G |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,790,098 (GRCm39) |
I556T |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,534,047 (GRCm39) |
|
probably null |
Het |
| Stxbp6 |
T |
A |
12: 44,949,653 (GRCm39) |
D92V |
probably damaging |
Het |
| Styx |
A |
G |
14: 45,594,215 (GRCm39) |
K46E |
probably damaging |
Het |
| Supt20 |
T |
A |
3: 54,617,841 (GRCm39) |
V314E |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,985,503 (GRCm39) |
D1650E |
probably benign |
Het |
| Szt2 |
T |
A |
4: 118,262,714 (GRCm39) |
K21M |
probably damaging |
Het |
| Tbx4 |
A |
T |
11: 85,802,033 (GRCm39) |
H222L |
probably damaging |
Het |
| Tcstv1b |
T |
A |
13: 120,634,725 (GRCm39) |
D2E |
probably benign |
Het |
| Tmx3 |
A |
T |
18: 90,551,121 (GRCm39) |
I254L |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpv2 |
A |
T |
11: 62,485,052 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
A |
G |
4: 41,202,380 (GRCm39) |
S683P |
probably benign |
Het |
| Ube2d3 |
C |
T |
3: 135,170,972 (GRCm39) |
R139W |
probably benign |
Het |
| Ubox5 |
G |
T |
2: 130,433,794 (GRCm39) |
Q518K |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,702,857 (GRCm39) |
N588S |
probably damaging |
Het |
| Vars2 |
G |
A |
17: 35,970,976 (GRCm39) |
T618M |
probably damaging |
Het |
| Wfdc17 |
A |
T |
11: 83,595,730 (GRCm39) |
N65Y |
probably damaging |
Het |
| Zbtb38 |
G |
A |
9: 96,570,094 (GRCm39) |
P330L |
probably damaging |
Het |
| Zfp385a |
C |
T |
15: 103,224,308 (GRCm39) |
|
probably null |
Het |
| Zfp637 |
T |
A |
6: 117,822,373 (GRCm39) |
L167H |
probably damaging |
Het |
|
| Other mutations in Lamb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00932:Lamb1
|
APN |
12 |
31,348,825 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL00939:Lamb1
|
APN |
12 |
31,352,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01017:Lamb1
|
APN |
12 |
31,351,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01384:Lamb1
|
APN |
12 |
31,370,930 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01470:Lamb1
|
APN |
12 |
31,350,261 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01554:Lamb1
|
APN |
12 |
31,356,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Lamb1
|
APN |
12 |
31,379,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02271:Lamb1
|
APN |
12 |
31,350,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Lamb1
|
APN |
12 |
31,355,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02365:Lamb1
|
APN |
12 |
31,368,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Lamb1
|
APN |
12 |
31,370,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Lamb1
|
APN |
12 |
31,368,466 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03132:Lamb1
|
APN |
12 |
31,350,333 (GRCm39) |
splice site |
probably null |
|
|
IGL03161:Lamb1
|
APN |
12 |
31,376,255 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03169:Lamb1
|
APN |
12 |
31,373,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Crush
|
UTSW |
12 |
31,337,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Deflationary
|
UTSW |
12 |
31,371,074 (GRCm39) |
missense |
probably null |
0.63 |
|
E0374:Lamb1
|
UTSW |
12 |
31,337,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0043:Lamb1
|
UTSW |
12 |
31,328,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Lamb1
|
UTSW |
12 |
31,351,155 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0047:Lamb1
|
UTSW |
12 |
31,328,600 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0047:Lamb1
|
UTSW |
12 |
31,328,600 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0285:Lamb1
|
UTSW |
12 |
31,376,644 (GRCm39) |
nonsense |
probably null |
|
|
R0456:Lamb1
|
UTSW |
12 |
31,354,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Lamb1
|
UTSW |
12 |
31,376,268 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0480:Lamb1
|
UTSW |
12 |
31,332,720 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0544:Lamb1
|
UTSW |
12 |
31,332,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Lamb1
|
UTSW |
12 |
31,348,914 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1500:Lamb1
|
UTSW |
12 |
31,348,948 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1624:Lamb1
|
UTSW |
12 |
31,328,651 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1836:Lamb1
|
UTSW |
12 |
31,351,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1853:Lamb1
|
UTSW |
12 |
31,368,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Lamb1
|
UTSW |
12 |
31,368,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Lamb1
|
UTSW |
12 |
31,379,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Lamb1
|
UTSW |
12 |
31,337,428 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2186:Lamb1
|
UTSW |
12 |
31,368,466 (GRCm39) |
nonsense |
probably null |
|
|
R2268:Lamb1
|
UTSW |
12 |
31,377,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Lamb1
|
UTSW |
12 |
31,319,054 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2698:Lamb1
|
UTSW |
12 |
31,348,882 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3121:Lamb1
|
UTSW |
12 |
31,337,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Lamb1
|
UTSW |
12 |
31,337,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3406:Lamb1
|
UTSW |
12 |
31,337,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Lamb1
|
UTSW |
12 |
31,337,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Lamb1
|
UTSW |
12 |
31,371,074 (GRCm39) |
missense |
probably null |
0.63 |
|
R3726:Lamb1
|
UTSW |
12 |
31,371,074 (GRCm39) |
missense |
probably null |
0.63 |
|
R3949:Lamb1
|
UTSW |
12 |
31,332,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Lamb1
|
UTSW |
12 |
31,379,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Lamb1
|
UTSW |
12 |
31,373,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4604:Lamb1
|
UTSW |
12 |
31,328,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Lamb1
|
UTSW |
12 |
31,316,847 (GRCm39) |
nonsense |
probably null |
|
|
R4710:Lamb1
|
UTSW |
12 |
31,332,582 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4767:Lamb1
|
UTSW |
12 |
31,358,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Lamb1
|
UTSW |
12 |
31,328,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Lamb1
|
UTSW |
12 |
31,348,929 (GRCm39) |
missense |
probably benign |
|
|
R4842:Lamb1
|
UTSW |
12 |
31,337,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Lamb1
|
UTSW |
12 |
31,371,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4909:Lamb1
|
UTSW |
12 |
31,338,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Lamb1
|
UTSW |
12 |
31,376,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5444:Lamb1
|
UTSW |
12 |
31,348,908 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5736:Lamb1
|
UTSW |
12 |
31,352,664 (GRCm39) |
nonsense |
probably null |
|
|
R5766:Lamb1
|
UTSW |
12 |
31,349,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Lamb1
|
UTSW |
12 |
31,368,613 (GRCm39) |
missense |
probably benign |
|
|
R5840:Lamb1
|
UTSW |
12 |
31,316,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5867:Lamb1
|
UTSW |
12 |
31,348,954 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5887:Lamb1
|
UTSW |
12 |
31,316,863 (GRCm39) |
nonsense |
probably null |
|
|
R5984:Lamb1
|
UTSW |
12 |
31,377,773 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6313:Lamb1
|
UTSW |
12 |
31,319,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6359:Lamb1
|
UTSW |
12 |
31,332,715 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6505:Lamb1
|
UTSW |
12 |
31,373,461 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7127:Lamb1
|
UTSW |
12 |
31,374,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Lamb1
|
UTSW |
12 |
31,374,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Lamb1
|
UTSW |
12 |
31,337,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Lamb1
|
UTSW |
12 |
31,315,595 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7486:Lamb1
|
UTSW |
12 |
31,337,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7496:Lamb1
|
UTSW |
12 |
31,350,020 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7591:Lamb1
|
UTSW |
12 |
31,376,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Lamb1
|
UTSW |
12 |
31,373,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7985:Lamb1
|
UTSW |
12 |
31,350,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8058:Lamb1
|
UTSW |
12 |
31,353,046 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8353:Lamb1
|
UTSW |
12 |
31,356,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Lamb1
|
UTSW |
12 |
31,379,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8846:Lamb1
|
UTSW |
12 |
31,379,388 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8888:Lamb1
|
UTSW |
12 |
31,352,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8895:Lamb1
|
UTSW |
12 |
31,352,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9312:Lamb1
|
UTSW |
12 |
31,368,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9340:Lamb1
|
UTSW |
12 |
31,374,224 (GRCm39) |
missense |
probably benign |
|
|
R9340:Lamb1
|
UTSW |
12 |
31,374,223 (GRCm39) |
missense |
probably benign |
|
|
R9371:Lamb1
|
UTSW |
12 |
31,348,863 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9417:Lamb1
|
UTSW |
12 |
31,337,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Lamb1
|
UTSW |
12 |
31,322,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Lamb1
|
UTSW |
12 |
31,354,669 (GRCm39) |
missense |
probably benign |
|
|
R9641:Lamb1
|
UTSW |
12 |
31,337,457 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0054:Lamb1
|
UTSW |
12 |
31,337,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Lamb1
|
UTSW |
12 |
31,353,041 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1176:Lamb1
|
UTSW |
12 |
31,377,701 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCTACAAGTGCGGCCTTTC -3'
(R):5'- AGACCCTCCGTAAGTACTGTTTCCC -3'
Sequencing Primer
(F):5'- AGTGCGGCCTTTCAAGAAC -3'
(R):5'- GTAAGTACTGTTTCCCACCAAAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation