Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02365:Lamb1'

290687

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lamb1

Ensembl Gene

ENSMUSG00000002900

Gene Name

laminin B1

Synonyms

Lamb-1, D130003D08Rik, C80098, C81607, Lamb1-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02365

Quality Score

Status

Chromosome

Chromosomal Location

31315233-31379643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31368344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1158 (E1158V)

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 benign
Transcript: ENSMUST00000002979
AA Change: E1206V

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: E1206V

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

probably damaging
Transcript: ENSMUST00000169088
AA Change: E1158V

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

SMART Domains

Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: E1158V

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

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	A	T	11: 30,599,318 (GRCm39)	V21E	probably damaging	Het
Adgrl3	A	G	5: 81,660,428 (GRCm39)	D331G	probably damaging	Het
Arfgef1	A	T	1: 10,270,108 (GRCm39)	I347N	probably benign	Het
Bfsp1	T	G	2: 143,668,656 (GRCm39)	E647A	probably damaging	Het
Bhmt	A	T	13: 93,754,146 (GRCm39)	N354K	probably benign	Het
Brinp3	A	T	1: 146,776,860 (GRCm39)	T436S	probably benign	Het
Capza1b	T	C	X: 168,559,526 (GRCm39)	N272D	probably benign	Het
Cog7	C	A	7: 121,576,959 (GRCm39)	M66I	possibly damaging	Het
Csf2rb2	A	T	15: 78,171,260 (GRCm39)	M333K	possibly damaging	Het
Cyp2u1	A	G	3: 131,091,878 (GRCm39)	V214A	probably damaging	Het
Dcaf5	A	T	12: 80,445,547 (GRCm39)	H177Q	probably benign	Het
Dchs1	T	C	7: 105,404,395 (GRCm39)	T2716A	probably benign	Het
Dsc1	T	C	18: 20,241,873 (GRCm39)	Q156R	probably damaging	Het
Dspp	G	T	5: 104,323,927 (GRCm39)	G357W	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fto	T	G	8: 92,195,003 (GRCm39)	S265R	probably damaging	Het
Gphb5	A	G	12: 75,462,591 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,844,975 (GRCm39)	V162A	probably benign	Het
Klk13	A	C	7: 43,373,290 (GRCm39)	K107T	possibly damaging	Het
Kpna7	T	A	5: 144,922,543 (GRCm39)	D507V	possibly damaging	Het
Lonp2	A	T	8: 87,442,993 (GRCm39)	D818V	possibly damaging	Het
Med15	A	G	16: 17,489,470 (GRCm39)		probably benign	Het
Or5p51	T	A	7: 107,444,119 (GRCm39)	N274Y	probably damaging	Het
Or6c69b	T	C	10: 129,627,404 (GRCm39)	D18G	possibly damaging	Het
Or8g52	A	T	9: 39,630,970 (GRCm39)	Y149F	possibly damaging	Het
Or8g52	G	A	9: 39,631,396 (GRCm39)	S291N	probably damaging	Het
Plpbp	A	G	8: 27,535,952 (GRCm39)	I82V	probably benign	Het
Ptprcap	A	G	19: 4,206,267 (GRCm39)	I117V	probably benign	Het
Rhox12	T	A	X: 37,196,758 (GRCm39)	D88V	possibly damaging	Het
Rnpc3	A	G	3: 113,402,048 (GRCm39)	S500P	probably damaging	Het
Sdhd	A	T	9: 50,510,125 (GRCm39)	Y84N	possibly damaging	Het
Sema6d	G	A	2: 124,498,788 (GRCm39)	V233I	probably benign	Het
Vegfb	A	T	19: 6,962,855 (GRCm39)	I140N	probably benign	Het
Vldlr	A	G	19: 27,223,025 (GRCm39)	Y732C	probably damaging	Het
Vmn2r17	T	A	5: 109,601,175 (GRCm39)	F824L	probably damaging	Het
Xdh	A	T	17: 74,250,885 (GRCm39)	N22K	probably benign	Het
Zc3h11a	A	C	1: 133,565,151 (GRCm39)	N249K	probably benign	Het
Zwilch	T	A	9: 64,068,206 (GRCm39)	D203V	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
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
R1772:Lamb1	UTSW	12	31,328,524 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16