Mutagenetix > Incidental Mutation

Incidental Mutation 'R5867:Lamb1'

454237

Institutional Source

Beutler Lab

Gene Symbol

Lamb1

Ensembl Gene

ENSMUSG00000002900

Gene Name

laminin B1

Synonyms

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

MMRRC Submission

043233-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31315233-31379643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31348954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 662 (I662N)

Ref Sequence

ENSEMBL: ENSMUSP00000002979 (fasta)

Gene Model

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

AlphaFold

P02469

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002979
AA Change: I662N

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900
AA Change: I662N

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: ENSMUST00000169088
AA Change: I614N

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900
AA Change: I614N

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

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.3%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,987,416 (GRCm39)	V2900A	probably damaging	Het
Akip1	A	G	7: 109,306,684 (GRCm39)	H127R	probably benign	Het
Alad	A	T	4: 62,431,203 (GRCm39)	Y56N	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Ap1g1	C	T	8: 110,545,614 (GRCm39)	A89V	probably damaging	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Cd209b	T	C	8: 3,974,246 (GRCm39)	I89V	possibly damaging	Het
Cd36	T	C	5: 17,990,733 (GRCm39)	K469R	probably benign	Het
Cdh20	T	A	1: 109,976,581 (GRCm39)	I82N	probably damaging	Het
Clmn	G	T	12: 104,748,014 (GRCm39)	P511H	probably damaging	Het
Cyfip1	A	C	7: 55,576,061 (GRCm39)	D1077A	probably damaging	Het
Cyp2a5	T	C	7: 26,542,383 (GRCm39)	F462L	probably benign	Het
Dclk2	A	G	3: 86,699,166 (GRCm39)	*709Q	probably null	Het
Drd1	T	C	13: 54,208,182 (GRCm39)	T4A	probably benign	Het
Ephb2	C	T	4: 136,402,733 (GRCm39)	V513I	possibly damaging	Het
Fam43a	T	A	16: 30,420,277 (GRCm39)	V287E	probably benign	Het
Gm5134	A	G	10: 75,844,450 (GRCm39)	E602G	probably benign	Het
Gtsf2	C	T	15: 103,348,063 (GRCm39)	G149E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhl6	T	C	16: 19,801,570 (GRCm39)	T62A	probably benign	Het
Lmod3	A	G	6: 97,224,963 (GRCm39)	V286A	probably damaging	Het
Mefv	T	C	16: 3,533,797 (GRCm39)	D158G	probably damaging	Het
Mff	T	C	1: 82,728,327 (GRCm39)		probably null	Het
Mfsd6l	G	T	11: 68,448,036 (GRCm39)	V296L	possibly damaging	Het
Neu2	G	T	1: 87,524,478 (GRCm39)	Q154H	probably damaging	Het
Or5m3b	A	G	2: 85,871,795 (GRCm39)	I45M	probably benign	Het
Pdk4	T	A	6: 5,487,452 (GRCm39)	H266L	probably benign	Het
Pdrg1	T	C	2: 152,855,975 (GRCm39)	N40D	probably damaging	Het
Pi4k2a	T	C	19: 42,093,924 (GRCm39)		probably null	Het
Pkd1l2	T	A	8: 117,781,750 (GRCm39)	D765V	probably damaging	Het
Pspc1	A	T	14: 56,999,498 (GRCm39)		probably null	Het
Ptprm	T	C	17: 67,352,976 (GRCm39)		probably null	Het
Spata31d1d	T	C	13: 59,875,054 (GRCm39)	K827R	possibly damaging	Het
Srebf2	T	A	15: 82,053,987 (GRCm39)	F46Y	probably damaging	Het
Tfrc	T	A	16: 32,439,230 (GRCm39)	C365S	possibly damaging	Het
Ttc7	A	G	17: 87,629,900 (GRCm39)	H294R	possibly damaging	Het
Ubr7	T	A	12: 102,727,753 (GRCm39)	Y92N	probably damaging	Het
Vmn1r42	A	C	6: 89,821,761 (GRCm39)	Y269*	probably null	Het
Vmn2r1	A	G	3: 64,011,990 (GRCm39)	E617G	probably benign	Het
Vps13c	A	G	9: 67,889,904 (GRCm39)		probably null	Het
Vps50	T	C	6: 3,536,965 (GRCm39)	L312P	probably damaging	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zcchc3	A	G	2: 152,256,444 (GRCm39)	F85S	probably damaging	Het
Zfhx3	T	C	8: 109,520,078 (GRCm39)	L400P	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
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'- TCAGGGAGTTTGCAGCTAGG -3'
(R):5'- TTAGGGGCCTAACAGGAGAC -3'

Sequencing Primer
(F):5'- AGGTGTAGGTGAATTCCATTTCGTAC -3'
(R):5'- GAAGCTATTGGGAGTAGTG -3'

Posted On

2017-02-10