Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03169:Lamb1'

411752

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 #

IGL03169

Quality Score

Status

Chromosome

Chromosomal Location

31315233-31379643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31373645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1458 (V1458A)

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

possibly damaging
Transcript: ENSMUST00000002979
AA Change: V1506A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: V1506A

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: V1458A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: V1458A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172134

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,658,624 (GRCm39)	I548F	probably damaging	Het
Adgrv1	T	A	13: 81,652,019 (GRCm39)	Q2995L	probably damaging	Het
Capn9	T	C	8: 125,332,616 (GRCm39)	I485T	probably damaging	Het
Ccdc17	T	A	4: 116,454,957 (GRCm39)	I197N	probably damaging	Het
Chl1	T	A	6: 103,642,928 (GRCm39)	L222Q	probably damaging	Het
Ctla4	T	C	1: 60,953,764 (GRCm39)		probably benign	Het
Cyp2d12	T	C	15: 82,443,492 (GRCm39)	S485P	probably benign	Het
Ddx50	A	T	10: 62,457,166 (GRCm39)		probably null	Het
Dlgap4	C	A	2: 156,552,938 (GRCm39)		probably null	Het
Dpysl4	G	A	7: 138,679,826 (GRCm39)		probably null	Het
Erbin	T	C	13: 103,977,740 (GRCm39)	M606V	possibly damaging	Het
Fat4	T	G	3: 39,011,547 (GRCm39)	S2216A	probably benign	Het
Frem2	T	C	3: 53,429,713 (GRCm39)	N2779S	probably benign	Het
Fut1	T	C	7: 45,268,457 (GRCm39)	V82A	probably benign	Het
Gnb1l	C	T	16: 18,359,205 (GRCm39)	A2V	probably damaging	Het
Hdac1	C	T	4: 129,412,624 (GRCm39)	E327K	probably null	Het
Hdlbp	A	G	1: 93,344,309 (GRCm39)	V819A	possibly damaging	Het
Ift122	T	C	6: 115,882,922 (GRCm39)		probably benign	Het
Iqgap2	T	C	13: 95,867,785 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,913,884 (GRCm39)	V613A	possibly damaging	Het
Lef1	A	G	3: 130,988,312 (GRCm39)	K265R	probably damaging	Het
Lrp2	T	C	2: 69,353,538 (GRCm39)	D574G	probably damaging	Het
Mterf2	C	T	10: 84,956,324 (GRCm39)	R100H	probably benign	Het
Nr1d2	C	T	14: 18,216,703 (GRCm38)	R155Q	probably damaging	Het
Obscn	T	C	11: 58,964,122 (GRCm39)	T3304A	probably damaging	Het
Or2j3	G	T	17: 38,615,992 (GRCm39)	S120Y	probably damaging	Het
Or4a78	A	G	2: 89,497,831 (GRCm39)	I133T	possibly damaging	Het
Os9	G	A	10: 126,934,463 (GRCm39)	T391M	probably benign	Het
Parp6	C	A	9: 59,557,300 (GRCm39)	Y131*	probably null	Het
Plxdc1	T	C	11: 97,823,146 (GRCm39)	E358G	possibly damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Ptprc	A	T	1: 138,041,357 (GRCm39)	S167R	probably benign	Het
Rad54l2	T	C	9: 106,596,263 (GRCm39)	D225G	probably benign	Het
Rgs7	T	C	1: 175,098,401 (GRCm39)	I53V	possibly damaging	Het
Rpa1	T	C	11: 75,192,183 (GRCm39)	D607G	probably damaging	Het
Shisa5	T	A	9: 108,885,560 (GRCm39)	H213Q	probably damaging	Het
Syncrip	A	G	9: 88,338,496 (GRCm39)		probably benign	Het
Taf4b	T	G	18: 14,954,592 (GRCm39)	V556G	probably damaging	Het
Tgif1	A	C	17: 71,151,836 (GRCm39)	S258R	possibly damaging	Het
Tmem106a	T	C	11: 101,481,284 (GRCm39)		probably benign	Het
Vmn1r113	A	T	7: 20,522,012 (GRCm39)	H268L	probably benign	Het
Vmn1r40	A	T	6: 89,692,005 (GRCm39)	Q274L	probably damaging	Het
Wdr70	A	C	15: 7,913,821 (GRCm39)	I609M	possibly damaging	Het
Wdr91	G	A	6: 34,882,426 (GRCm39)	S241L	possibly damaging	Het
Zfyve9	T	C	4: 108,553,022 (GRCm39)	Y713C	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
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

2016-08-02