Mutagenetix > Incidental Mutation

Incidental Mutation 'R7591:Lamb1'

587410

Institutional Source

Beutler Lab

Gene Symbol

Lamb1

Ensembl Gene

ENSMUSG00000002900

Gene Name

laminin B1

Synonyms

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

MMRRC Submission

045638-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7591 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31315233-31379643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31376647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1657 (A1657E)

Ref Sequence

ENSEMBL: ENSMUSP00000002979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000110857] [ENSMUST00000169088]

AlphaFold

P02469

Predicted Effect

probably damaging
Transcript: ENSMUST00000002979
AA Change: A1657E

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

SMART Domains

Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: A1657E

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 benign
Transcript: ENSMUST00000110857

SMART Domains

Protein: ENSMUSP00000106481
Gene: ENSMUSG00000020664

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	42	370	2.3e-71	PFAM
Pfam:FAD_binding_2	43	83	2.5e-7	PFAM
Pfam:GIDA	43	111	1.7e-8	PFAM
Pfam:FAD_oxidored	43	135	4.3e-10	PFAM
Pfam:NAD_binding_8	46	100	1.4e-6	PFAM
Pfam:Pyr_redox	215	298	4.9e-17	PFAM
Pfam:Pyr_redox_dim	389	498	1.6e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169088
AA Change: A1609E

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

SMART Domains

Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: A1609E

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

0.0971

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (45/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccne2	T	C	4: 11,201,393 (GRCm39)	I307T	probably benign	Het
Chrm3	A	T	13: 9,927,349 (GRCm39)	C562*	probably null	Het
Cldn11	A	T	3: 31,204,436 (GRCm39)	E46D	probably benign	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dbh	A	G	2: 27,060,522 (GRCm39)	T233A	probably damaging	Het
Dennd2c	T	A	3: 103,040,661 (GRCm39)	Y309N	possibly damaging	Het
Dnttip2	T	A	3: 122,070,117 (GRCm39)	L444*	probably null	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epop	A	T	11: 97,519,158 (GRCm39)	V317E	probably damaging	Het
Eppk1	T	C	15: 75,991,797 (GRCm39)	T1695A	possibly damaging	Het
Fam149a	T	A	8: 45,803,472 (GRCm39)	I421F	possibly damaging	Het
Impa2	T	C	18: 67,451,480 (GRCm39)	L258P	probably damaging	Het
Itga1	G	A	13: 115,119,315 (GRCm39)	R855W	probably damaging	Het
Kcnh5	T	C	12: 75,054,541 (GRCm39)	T468A	probably benign	Het
Kif11	A	G	19: 37,372,711 (GRCm39)	K33R	probably damaging	Het
Macc1	T	C	12: 119,410,393 (GRCm39)	V387A	probably damaging	Het
Nalcn	T	C	14: 123,561,297 (GRCm39)	T734A	probably benign	Het
Nphp3	T	C	9: 103,895,477 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,627,903 (GRCm39)	I461M	probably damaging	Het
Or14p1	T	C	13: 65,292,462 (GRCm39)	F130L	probably benign	Het
Or4p7	G	A	2: 88,222,220 (GRCm39)	V210M	probably benign	Het
Or4s2	A	C	2: 88,473,811 (GRCm39)	K233N	probably damaging	Het
Or5b112	A	G	19: 13,319,619 (GRCm39)	S166G	probably benign	Het
Pigo	T	C	4: 43,025,093 (GRCm39)	N2S	probably benign	Het
Plcl1	A	T	1: 55,736,608 (GRCm39)	I650L	probably benign	Het
Ppcdc	A	T	9: 57,342,262 (GRCm39)	V20D	probably damaging	Het
Pramel27	A	T	4: 143,577,481 (GRCm39)	I88L	probably benign	Het
Rhobtb2	A	G	14: 70,037,190 (GRCm39)	V78A	possibly damaging	Het
Rp1l1	T	C	14: 64,263,558 (GRCm39)	V226A	probably damaging	Het
Scrt1	C	A	15: 76,403,694 (GRCm39)	G99C	probably damaging	Het
Skint9	A	T	4: 112,248,147 (GRCm39)	I199N	probably damaging	Het
Slc5a4a	T	C	10: 75,983,501 (GRCm39)		probably benign	Het
Smad3	C	T	9: 63,561,999 (GRCm39)	W326*	probably null	Het
Spata18	A	T	5: 73,829,759 (GRCm39)	I305F		Het
Spata31h1	C	A	10: 82,128,046 (GRCm39)	V1655F	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syne3	A	G	12: 104,906,863 (GRCm39)		probably null	Het
Trim69	G	A	2: 121,998,454 (GRCm39)	R142Q	probably benign	Het
Vmn1r40	A	T	6: 89,691,755 (GRCm39)	I191F	probably benign	Het
Vmn2r16	T	A	5: 109,510,223 (GRCm39)	D535E	probably damaging	Het
Vwa5b2	A	G	16: 20,420,317 (GRCm39)	E742G	probably damaging	Het
Zfp442	A	T	2: 150,250,092 (GRCm39)	Y603*	probably null	Het
Zp1	T	C	19: 10,896,835 (GRCm39)	N68S	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
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
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'- CTGCTGTAACGAGCACACTG -3'
(R):5'- TGTTGGTAGGGACACAGGAC -3'

Sequencing Primer
(F):5'- GTAACGAGCACACTGTAAGAGACTTC -3'
(R):5'- GGACACAGGACAACATTTGTAAATC -3'

Posted On

2019-10-24