Mutagenetix > Incidental Mutation

Incidental Mutation 'R6888:Lamc1'

537019

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

044982-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6888 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153218922-153332786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153262492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 205 (D205E)

Ref Sequence

ENSEMBL: ENSMUSP00000027752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027752]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027752
AA Change: D205E

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

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: D205E

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
LamNT	42	282	1.97e-150	SMART
EGF_Lam	284	337	7.18e-7	SMART
EGF_Lam	340	393	7.93e-9	SMART
EGF_Lam	396	440	2.11e-13	SMART
EGF_Lam	443	490	2.87e-15	SMART
LamB	551	676	5.52e-48	SMART
Pfam:Laminin_EGF	683	718	1.3e-4	PFAM
EGF_Lam	722	768	2.38e-12	SMART
EGF_Lam	771	823	1.39e-4	SMART
EGF_Lam	826	879	8.05e-10	SMART
EGF_Lam	882	930	8.9e-12	SMART
EGF_Lam	933	978	1.26e-11	SMART
EGF_Lam	981	1026	7.4e-9	SMART
coiled coil region	1063	1594	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have 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 gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	G	2: 91,421,894 (GRCm38)	Y41H	probably damaging	Het
Actg1	T	C	11: 120,347,315 (GRCm38)	Y190C	probably damaging	Het
Adgrv1	A	G	13: 81,508,669 (GRCm38)	I2902T	probably damaging	Het
AI429214	G	A	8: 36,993,833 (GRCm38)	G45D	possibly damaging	Het
Ambra1	A	G	2: 91,769,027 (GRCm38)	D164G	probably damaging	Het
Ap3b1	A	T	13: 94,408,791 (GRCm38)	Q184L	probably benign	Het
Arhgef17	T	C	7: 100,930,820 (GRCm38)	D307G	possibly damaging	Het
AY761185	A	T	8: 20,944,555 (GRCm38)	Y52*	probably null	Het
Bfsp1	A	G	2: 143,826,719 (GRCm38)	S647P	probably benign	Het
C130073F10Rik	A	G	4: 101,890,256 (GRCm38)	V192A	probably benign	Het
Cacna1g	T	A	11: 94,459,207 (GRCm38)	D604V	probably benign	Het
Ccdc170	T	C	10: 4,546,854 (GRCm38)	V458A	possibly damaging	Het
Ccdc187	G	A	2: 26,289,734 (GRCm38)	R238W	probably damaging	Het
Cdh1	A	G	8: 106,658,314 (GRCm38)	S380G	probably benign	Het
Cdk5rap3	T	C	11: 96,916,192 (GRCm38)	H4R	probably benign	Het
Cftr	G	A	6: 18,313,730 (GRCm38)		probably null	Het
Dnajc16	A	G	4: 141,776,992 (GRCm38)	V219A	probably benign	Het
Drd3	A	T	16: 43,817,139 (GRCm38)	I266F	probably benign	Het
Dut	A	G	2: 125,257,124 (GRCm38)	D177G	probably benign	Het
Esr1	A	G	10: 4,857,076 (GRCm38)	I331V	probably benign	Het
Fam129c	G	T	8: 71,603,739 (GRCm38)	R361L	probably benign	Het
Gm11110	A	G	17: 57,102,143 (GRCm38)		probably benign	Het
Grm7	G	T	6: 111,358,353 (GRCm38)	G575V	possibly damaging	Het
Heatr3	A	G	8: 88,170,884 (GRCm38)	Y531C	probably damaging	Het
Igfn1	A	G	1: 135,982,480 (GRCm38)	V122A	probably benign	Het
Igsf21	T	C	4: 140,034,743 (GRCm38)	D208G	probably benign	Het
Kntc1	T	C	5: 123,811,310 (GRCm38)	Y1915H	probably damaging	Het
Limch1	C	T	5: 67,021,926 (GRCm38)	T713I	probably benign	Het
Lrp1b	A	G	2: 41,471,126 (GRCm38)	I555T	probably benign	Het
Lrp2	A	T	2: 69,524,141 (GRCm38)	F448I	probably damaging	Het
March6	T	C	15: 31,459,233 (GRCm38)	K896E	probably benign	Het
Mpp6	T	G	6: 50,180,277 (GRCm38)		probably null	Het
Mroh4	T	C	15: 74,613,249 (GRCm38)	Y469C	possibly damaging	Het
Nos3	T	C	5: 24,383,335 (GRCm38)	V1060A	possibly damaging	Het
Nr1h4	A	G	10: 89,456,542 (GRCm38)	I406T	probably damaging	Het
Odf2l	T	C	3: 145,148,618 (GRCm38)		probably null	Het
Olfr1162	A	G	2: 88,050,264 (GRCm38)	M120T	probably damaging	Het
Olfr1387	A	T	11: 49,460,260 (GRCm38)	T194S	probably damaging	Het
Pbx2	A	G	17: 34,594,107 (GRCm38)	Y119C	possibly damaging	Het
Pdcd6ip	C	A	9: 113,671,837 (GRCm38)	A526S	probably benign	Het
Prx	G	A	7: 27,519,634 (GRCm38)	D1187N	possibly damaging	Het
Ptpro	G	A	6: 137,380,200 (GRCm38)	V230I	probably benign	Het
Rtn3	C	T	19: 7,457,249 (GRCm38)	M440I	probably benign	Het
Sar1b	T	C	11: 51,788,192 (GRCm38)	I96T	probably damaging	Het
Sds	T	C	5: 120,480,900 (GRCm38)		probably null	Het
Secisbp2	A	G	13: 51,679,941 (GRCm38)	T706A	probably benign	Het
Sorcs3	A	T	19: 48,693,824 (GRCm38)	M433L	possibly damaging	Het
Sppl2a	A	G	2: 126,904,992 (GRCm38)	V472A	probably damaging	Het
Tbc1d9	A	G	8: 83,271,588 (GRCm38)	E1258G	possibly damaging	Het
Tbxas1	C	A	6: 38,952,074 (GRCm38)		probably benign	Het
Tg	T	C	15: 66,696,246 (GRCm38)	I1333T	probably damaging	Het
Tmem108	C	T	9: 103,499,716 (GRCm38)	G178D	probably damaging	Het
Tmem174	A	G	13: 98,637,061 (GRCm38)	L87P	probably damaging	Het
Tmppe	T	A	9: 114,404,701 (GRCm38)	S23T	probably damaging	Het
Ttn	G	A	2: 76,761,103 (GRCm38)	T21074I	probably benign	Het
Tub	A	G	7: 109,029,298 (GRCm38)	M338V	probably null	Het
Vmn1r160	A	T	7: 22,872,106 (GRCm38)	R295*	probably null	Het
Vps52	T	C	17: 33,963,206 (GRCm38)	V518A	probably benign	Het
Wdr59	A	G	8: 111,451,043 (GRCm38)	V909A	probably benign	Het
Wnk1	T	C	6: 119,948,781 (GRCm38)	T1241A	probably benign	Het
Zfp882	G	A	8: 71,914,286 (GRCm38)	C319Y	probably benign	Het
Znfx1	A	T	2: 167,038,940 (GRCm38)	I308N	possibly damaging	Het

Other mutations in Lamc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Lamc1	APN	1	153,240,495 (GRCm38)	missense	probably damaging	1.00
IGL01397:Lamc1	APN	1	153,251,134 (GRCm38)	missense	probably damaging	1.00
IGL01661:Lamc1	APN	1	153,221,573 (GRCm38)	missense	possibly damaging	0.89
IGL01894:Lamc1	APN	1	153,247,082 (GRCm38)	missense	possibly damaging	0.51
IGL02000:Lamc1	APN	1	153,240,433 (GRCm38)	missense	probably damaging	1.00
IGL02649:Lamc1	APN	1	153,247,042 (GRCm38)	missense	possibly damaging	0.78
IGL02749:Lamc1	APN	1	153,249,853 (GRCm38)	missense	possibly damaging	0.51
IGL02819:Lamc1	APN	1	153,250,661 (GRCm38)	missense	probably damaging	1.00
IGL02831:Lamc1	APN	1	153,247,055 (GRCm38)	missense	probably benign	0.00
IGL03069:Lamc1	APN	1	153,239,381 (GRCm38)	missense	probably damaging	1.00
IGL03143:Lamc1	APN	1	153,332,274 (GRCm38)	missense	probably benign	0.00
IGL03166:Lamc1	APN	1	153,332,301 (GRCm38)	missense	probably benign	0.01
IGL03285:Lamc1	APN	1	153,227,685 (GRCm38)	missense	possibly damaging	0.96
IGL03294:Lamc1	APN	1	153,262,646 (GRCm38)	missense	probably damaging	1.00
pride	UTSW	1	153,247,284 (GRCm38)	missense	probably benign	0.01
Stratum	UTSW	1	153,251,124 (GRCm38)	nonsense	probably null
tier	UTSW	1	153,250,522 (GRCm38)	missense	probably damaging	1.00
PIT4280001:Lamc1	UTSW	1	153,243,471 (GRCm38)	missense	probably damaging	1.00
R0003:Lamc1	UTSW	1	153,262,439 (GRCm38)	missense	probably damaging	0.99
R0003:Lamc1	UTSW	1	153,262,439 (GRCm38)	missense	probably damaging	0.99
R0027:Lamc1	UTSW	1	153,262,583 (GRCm38)	missense	probably damaging	1.00
R0060:Lamc1	UTSW	1	153,241,868 (GRCm38)	unclassified	probably benign
R0078:Lamc1	UTSW	1	153,229,190 (GRCm38)	missense	probably damaging	0.96
R0157:Lamc1	UTSW	1	153,262,607 (GRCm38)	missense	probably benign	0.00
R0282:Lamc1	UTSW	1	153,255,312 (GRCm38)	missense	probably benign
R0374:Lamc1	UTSW	1	153,251,065 (GRCm38)	splice site	probably benign
R0494:Lamc1	UTSW	1	153,246,936 (GRCm38)	critical splice donor site	probably null
R0502:Lamc1	UTSW	1	153,246,932 (GRCm38)	splice site	probably benign
R0755:Lamc1	UTSW	1	153,247,450 (GRCm38)	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153,234,595 (GRCm38)	missense	probably damaging	1.00
R0791:Lamc1	UTSW	1	153,234,580 (GRCm38)	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153,234,612 (GRCm38)	missense	probably benign	0.01
R0792:Lamc1	UTSW	1	153,234,580 (GRCm38)	missense	possibly damaging	0.94
R0792:Lamc1	UTSW	1	153,234,595 (GRCm38)	missense	probably damaging	1.00
R0792:Lamc1	UTSW	1	153,234,612 (GRCm38)	missense	probably benign	0.01
R0892:Lamc1	UTSW	1	153,332,254 (GRCm38)	missense	possibly damaging	0.95
R0941:Lamc1	UTSW	1	153,332,274 (GRCm38)	missense	possibly damaging	0.72
R0961:Lamc1	UTSW	1	153,221,700 (GRCm38)	missense	probably benign	0.03
R0961:Lamc1	UTSW	1	153,221,646 (GRCm38)	frame shift	probably null
R0963:Lamc1	UTSW	1	153,243,386 (GRCm38)	missense	probably benign
R1127:Lamc1	UTSW	1	153,250,459 (GRCm38)	missense	possibly damaging	0.69
R1173:Lamc1	UTSW	1	153,247,231 (GRCm38)	splice site	probably benign
R1175:Lamc1	UTSW	1	153,247,231 (GRCm38)	splice site	probably benign
R1449:Lamc1	UTSW	1	153,250,495 (GRCm38)	missense	probably benign
R1481:Lamc1	UTSW	1	153,221,634 (GRCm38)	missense	probably damaging	1.00
R1565:Lamc1	UTSW	1	153,242,743 (GRCm38)	missense	probably benign	0.34
R1583:Lamc1	UTSW	1	153,243,478 (GRCm38)	critical splice acceptor site	probably null
R1643:Lamc1	UTSW	1	153,258,072 (GRCm38)	splice site	probably benign
R1652:Lamc1	UTSW	1	153,249,646 (GRCm38)	missense	probably damaging	1.00
R1691:Lamc1	UTSW	1	153,247,249 (GRCm38)	missense	probably benign	0.04
R1854:Lamc1	UTSW	1	153,249,872 (GRCm38)	missense	probably damaging	0.99
R2018:Lamc1	UTSW	1	153,242,632 (GRCm38)	missense	probably benign	0.07
R2170:Lamc1	UTSW	1	153,249,142 (GRCm38)	missense	probably benign	0.07
R2410:Lamc1	UTSW	1	153,247,395 (GRCm38)	missense	possibly damaging	0.61
R3438:Lamc1	UTSW	1	153,226,415 (GRCm38)	missense	probably benign	0.04
R3615:Lamc1	UTSW	1	153,251,150 (GRCm38)	missense	probably damaging	1.00
R3616:Lamc1	UTSW	1	153,251,150 (GRCm38)	missense	probably damaging	1.00
R3699:Lamc1	UTSW	1	153,255,205 (GRCm38)	missense	possibly damaging	0.79
R3811:Lamc1	UTSW	1	153,262,708 (GRCm38)	splice site	probably null
R4285:Lamc1	UTSW	1	153,234,552 (GRCm38)	missense	probably damaging	0.99
R4431:Lamc1	UTSW	1	153,221,528 (GRCm38)	missense	probably damaging	1.00
R4579:Lamc1	UTSW	1	153,247,269 (GRCm38)	missense	probably damaging	1.00
R4625:Lamc1	UTSW	1	153,242,696 (GRCm38)	missense	probably benign	0.04
R4649:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4650:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4651:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4652:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4653:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4784:Lamc1	UTSW	1	153,231,740 (GRCm38)	missense	probably damaging	1.00
R4785:Lamc1	UTSW	1	153,231,740 (GRCm38)	missense	probably damaging	1.00
R4853:Lamc1	UTSW	1	153,229,100 (GRCm38)	missense	possibly damaging	0.89
R5216:Lamc1	UTSW	1	153,227,696 (GRCm38)	missense	probably damaging	1.00
R5217:Lamc1	UTSW	1	153,227,696 (GRCm38)	missense	probably damaging	1.00
R5218:Lamc1	UTSW	1	153,227,696 (GRCm38)	missense	probably damaging	1.00
R5219:Lamc1	UTSW	1	153,227,696 (GRCm38)	missense	probably damaging	1.00
R5468:Lamc1	UTSW	1	153,233,564 (GRCm38)	missense	probably damaging	0.99
R5597:Lamc1	UTSW	1	153,251,970 (GRCm38)	missense	probably damaging	1.00
R5754:Lamc1	UTSW	1	153,247,284 (GRCm38)	missense	probably benign	0.01
R6233:Lamc1	UTSW	1	153,223,666 (GRCm38)	missense	probably benign
R6431:Lamc1	UTSW	1	153,221,671 (GRCm38)	missense	probably benign	0.21
R6636:Lamc1	UTSW	1	153,241,975 (GRCm38)	missense	possibly damaging	0.93
R7161:Lamc1	UTSW	1	153,226,454 (GRCm38)	missense	probably damaging	1.00
R7240:Lamc1	UTSW	1	153,234,650 (GRCm38)	missense	possibly damaging	0.82
R7388:Lamc1	UTSW	1	153,249,076 (GRCm38)	missense	probably damaging	1.00
R7474:Lamc1	UTSW	1	153,332,265 (GRCm38)	missense	possibly damaging	0.81
R7570:Lamc1	UTSW	1	153,243,275 (GRCm38)	missense	possibly damaging	0.64
R7583:Lamc1	UTSW	1	153,243,232 (GRCm38)	missense	possibly damaging	0.71
R7597:Lamc1	UTSW	1	153,240,454 (GRCm38)	missense	possibly damaging	0.94
R7635:Lamc1	UTSW	1	153,249,060 (GRCm38)	missense	probably damaging	1.00
R7976:Lamc1	UTSW	1	153,247,268 (GRCm38)	missense	probably damaging	1.00
R8012:Lamc1	UTSW	1	153,221,612 (GRCm38)	missense	probably benign	0.04
R8207:Lamc1	UTSW	1	153,250,522 (GRCm38)	missense	probably damaging	1.00
R8219:Lamc1	UTSW	1	153,247,327 (GRCm38)	missense	probably damaging	1.00
R8227:Lamc1	UTSW	1	153,223,754 (GRCm38)	missense	probably benign	0.04
R8315:Lamc1	UTSW	1	153,243,421 (GRCm38)	missense	probably benign	0.00
R8417:Lamc1	UTSW	1	153,230,769 (GRCm38)	missense	probably damaging	1.00
R8685:Lamc1	UTSW	1	153,233,542 (GRCm38)	missense	probably benign	0.31
R8827:Lamc1	UTSW	1	153,221,678 (GRCm38)	missense	probably damaging	1.00
R8995:Lamc1	UTSW	1	153,332,247 (GRCm38)	missense	probably benign	0.00
R9061:Lamc1	UTSW	1	153,251,124 (GRCm38)	nonsense	probably null
R9141:Lamc1	UTSW	1	153,247,450 (GRCm38)	missense	probably benign	0.01
R9187:Lamc1	UTSW	1	153,221,688 (GRCm38)	nonsense	probably null
R9206:Lamc1	UTSW	1	153,250,451 (GRCm38)	missense	probably damaging	1.00
R9222:Lamc1	UTSW	1	153,243,341 (GRCm38)	missense	probably damaging	0.96
R9297:Lamc1	UTSW	1	153,252,000 (GRCm38)	missense	probably damaging	1.00
R9318:Lamc1	UTSW	1	153,252,000 (GRCm38)	missense	probably damaging	1.00
R9377:Lamc1	UTSW	1	153,239,263 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACATGTTCCCAAGGCAGAGG -3'
(R):5'- TTACGTGCGCCTCAAGTTCC -3'

Sequencing Primer
(F):5'- GAGAATGGCATTAAAACCTAGCC -3'
(R):5'- GTTCCACACCAGCCGTC -3'

Posted On

2018-10-18