Mutagenetix > Incidental Mutation

Incidental Mutation 'R7597:Lamc1'

587760

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

045672-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7597 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153094668-153208532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153116200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 994 (K994E)

Ref Sequence

ENSEMBL: ENSMUSP00000027752 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027752
AA Change: K994E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: K994E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163011

SMART Domains

Protein: ENSMUSP00000124216
Gene: ENSMUSG00000026478

Domain	Start	End	E-Value	Type
coiled coil region	1	93	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,644,661 (GRCm39)	L838P	probably damaging	Het
Adam34l	T	G	8: 44,078,281 (GRCm39)	N648H	probably damaging	Het
Adgrl4	T	A	3: 151,248,895 (GRCm39)	F728I	probably damaging	Het
Asap1	A	G	15: 64,184,304 (GRCm39)	V7A	probably benign	Het
B230104I21Rik	A	G	4: 154,434,050 (GRCm39)		probably benign	Het
C4b	A	T	17: 34,958,649 (GRCm39)	S562T	probably benign	Het
Carmil2	A	G	8: 106,422,121 (GRCm39)	Y1130C	probably damaging	Het
Cit	A	T	5: 116,024,740 (GRCm39)	K328*	probably null	Het
Col18a1	T	C	10: 76,949,137 (GRCm39)	D125G	unknown	Het
Cxadr	T	C	16: 78,125,996 (GRCm39)	V122A	probably damaging	Het
Cyp2d22	G	A	15: 82,260,053 (GRCm39)	P44S	probably damaging	Het
Elapor1	A	G	3: 108,378,745 (GRCm39)	V351A	possibly damaging	Het
Gabrr1	A	G	4: 33,148,964 (GRCm39)	T74A	probably benign	Het
Gfm2	C	A	13: 97,309,086 (GRCm39)	A597E	probably benign	Het
H2-T22	T	C	17: 36,351,408 (GRCm39)	Y274C	probably damaging	Het
Has2	C	A	15: 56,531,817 (GRCm39)	W299C	probably damaging	Het
Hsd17b6	A	G	10: 127,827,227 (GRCm39)	S282P	probably benign	Het
Itga1	T	C	13: 115,110,676 (GRCm39)	I972V	probably benign	Het
Itih5	T	A	2: 10,254,187 (GRCm39)	Y813N	probably damaging	Het
Kctd16	A	G	18: 40,663,848 (GRCm39)	T326A	possibly damaging	Het
Klhdc1	T	C	12: 69,316,642 (GRCm39)	S342P	probably damaging	Het
Kmt2a	T	C	9: 44,742,650 (GRCm39)	I1682M	unknown	Het
Lig1	T	G	7: 13,030,270 (GRCm39)	S416A	probably benign	Het
Lims1	A	G	10: 58,248,263 (GRCm39)	E240G	probably damaging	Het
Lnpk	T	C	2: 74,399,316 (GRCm39)	M76V	probably benign	Het
Lrrtm4	T	A	6: 79,999,428 (GRCm39)	L280*	probably null	Het
Mfap3l	A	T	8: 61,124,315 (GRCm39)	I186F	possibly damaging	Het
Mta3	T	C	17: 84,083,011 (GRCm39)	F234L	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybpc2	C	T	7: 44,159,223 (GRCm39)	G609D	probably damaging	Het
Naga	A	T	15: 82,219,035 (GRCm39)	D237E	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nipsnap2	T	C	5: 129,816,637 (GRCm39)	L60P	probably damaging	Het
Or4f47	T	A	2: 111,972,925 (GRCm39)	F212I	probably benign	Het
Or8b1b	G	A	9: 38,375,802 (GRCm39)	G155D	probably benign	Het
Pclo	C	T	5: 14,727,601 (GRCm39)	T2153I	unknown	Het
Pclo	A	C	5: 14,908,869 (GRCm39)	K5059T	unknown	Het
Pdlim2	C	A	14: 70,403,645 (GRCm39)	A256S	possibly damaging	Het
Pira2	T	C	7: 3,845,460 (GRCm39)	D308G	probably damaging	Het
Proc	G	T	18: 32,256,689 (GRCm39)	A326E	probably damaging	Het
Rab40b	T	C	11: 121,248,709 (GRCm39)	D182G	probably benign	Het
Rai14	A	G	15: 10,574,937 (GRCm39)	S703P	possibly damaging	Het
Rdx	C	T	9: 51,972,196 (GRCm39)	P2L	possibly damaging	Het
Recql5	T	C	11: 115,819,207 (GRCm39)	K120E	probably benign	Het
Rev3l	C	T	10: 39,698,880 (GRCm39)	R1126C	probably damaging	Het
Slc2a6	G	T	2: 26,917,195 (GRCm39)	D70E	possibly damaging	Het
Slc6a17	A	T	3: 107,378,668 (GRCm39)	D671E	possibly damaging	Het
Slc7a8	G	A	14: 55,018,857 (GRCm39)		probably benign	Het
Srpk2	A	G	5: 23,753,517 (GRCm39)	Y79H	possibly damaging	Het
Traf3ip1	T	A	1: 91,439,167 (GRCm39)	I361K	probably damaging	Het
Trpm8	A	G	1: 88,255,918 (GRCm39)	Y191C	probably damaging	Het
Ubr3	T	C	2: 69,803,812 (GRCm39)	V1135A	possibly damaging	Het
Usp12	C	A	5: 146,691,179 (GRCm39)		probably null	Het
Vmn1r44	C	A	6: 89,870,818 (GRCm39)	P188Q	probably benign	Het
Xirp2	T	A	2: 67,356,099 (GRCm39)	V3620D	possibly damaging	Het
Zcchc14	A	T	8: 122,335,239 (GRCm39)	S294T	unknown	Het
Zfp800	T	C	6: 28,260,764 (GRCm39)	D5G	probably damaging	Het
Zfp87	C	T	13: 67,665,412 (GRCm39)	R350Q	probably benign	Het

Other mutations in Lamc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Lamc1	APN	1	153,116,241 (GRCm39)	missense	probably damaging	1.00
IGL01397:Lamc1	APN	1	153,126,880 (GRCm39)	missense	probably damaging	1.00
IGL01661:Lamc1	APN	1	153,097,319 (GRCm39)	missense	possibly damaging	0.89
IGL01894:Lamc1	APN	1	153,122,828 (GRCm39)	missense	possibly damaging	0.51
IGL02000:Lamc1	APN	1	153,116,179 (GRCm39)	missense	probably damaging	1.00
IGL02649:Lamc1	APN	1	153,122,788 (GRCm39)	missense	possibly damaging	0.78
IGL02749:Lamc1	APN	1	153,125,599 (GRCm39)	missense	possibly damaging	0.51
IGL02819:Lamc1	APN	1	153,126,407 (GRCm39)	missense	probably damaging	1.00
IGL02831:Lamc1	APN	1	153,122,801 (GRCm39)	missense	probably benign	0.00
IGL03069:Lamc1	APN	1	153,115,127 (GRCm39)	missense	probably damaging	1.00
IGL03143:Lamc1	APN	1	153,208,020 (GRCm39)	missense	probably benign	0.00
IGL03166:Lamc1	APN	1	153,208,047 (GRCm39)	missense	probably benign	0.01
IGL03285:Lamc1	APN	1	153,103,431 (GRCm39)	missense	possibly damaging	0.96
IGL03294:Lamc1	APN	1	153,138,392 (GRCm39)	missense	probably damaging	1.00
pride	UTSW	1	153,123,030 (GRCm39)	missense	probably benign	0.01
Stratum	UTSW	1	153,126,870 (GRCm39)	nonsense	probably null
tier	UTSW	1	153,126,268 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Lamc1	UTSW	1	153,119,217 (GRCm39)	missense	probably damaging	1.00
R0003:Lamc1	UTSW	1	153,138,185 (GRCm39)	missense	probably damaging	0.99
R0003:Lamc1	UTSW	1	153,138,185 (GRCm39)	missense	probably damaging	0.99
R0027:Lamc1	UTSW	1	153,138,329 (GRCm39)	missense	probably damaging	1.00
R0060:Lamc1	UTSW	1	153,117,614 (GRCm39)	unclassified	probably benign
R0078:Lamc1	UTSW	1	153,104,936 (GRCm39)	missense	probably damaging	0.96
R0157:Lamc1	UTSW	1	153,138,353 (GRCm39)	missense	probably benign	0.00
R0282:Lamc1	UTSW	1	153,131,058 (GRCm39)	missense	probably benign
R0374:Lamc1	UTSW	1	153,126,811 (GRCm39)	splice site	probably benign
R0494:Lamc1	UTSW	1	153,122,682 (GRCm39)	critical splice donor site	probably null
R0502:Lamc1	UTSW	1	153,122,678 (GRCm39)	splice site	probably benign
R0755:Lamc1	UTSW	1	153,123,196 (GRCm39)	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153,110,341 (GRCm39)	missense	probably damaging	1.00
R0791:Lamc1	UTSW	1	153,110,326 (GRCm39)	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153,110,358 (GRCm39)	missense	probably benign	0.01
R0792:Lamc1	UTSW	1	153,110,326 (GRCm39)	missense	possibly damaging	0.94
R0792:Lamc1	UTSW	1	153,110,341 (GRCm39)	missense	probably damaging	1.00
R0792:Lamc1	UTSW	1	153,110,358 (GRCm39)	missense	probably benign	0.01
R0892:Lamc1	UTSW	1	153,208,000 (GRCm39)	missense	possibly damaging	0.95
R0941:Lamc1	UTSW	1	153,208,020 (GRCm39)	missense	possibly damaging	0.72
R0961:Lamc1	UTSW	1	153,097,446 (GRCm39)	missense	probably benign	0.03
R0961:Lamc1	UTSW	1	153,097,392 (GRCm39)	frame shift	probably null
R0963:Lamc1	UTSW	1	153,119,132 (GRCm39)	missense	probably benign
R1127:Lamc1	UTSW	1	153,126,205 (GRCm39)	missense	possibly damaging	0.69
R1173:Lamc1	UTSW	1	153,122,977 (GRCm39)	splice site	probably benign
R1175:Lamc1	UTSW	1	153,122,977 (GRCm39)	splice site	probably benign
R1449:Lamc1	UTSW	1	153,126,241 (GRCm39)	missense	probably benign
R1481:Lamc1	UTSW	1	153,097,380 (GRCm39)	missense	probably damaging	1.00
R1565:Lamc1	UTSW	1	153,118,489 (GRCm39)	missense	probably benign	0.34
R1583:Lamc1	UTSW	1	153,119,224 (GRCm39)	critical splice acceptor site	probably null
R1643:Lamc1	UTSW	1	153,133,818 (GRCm39)	splice site	probably benign
R1652:Lamc1	UTSW	1	153,125,392 (GRCm39)	missense	probably damaging	1.00
R1691:Lamc1	UTSW	1	153,122,995 (GRCm39)	missense	probably benign	0.04
R1854:Lamc1	UTSW	1	153,125,618 (GRCm39)	missense	probably damaging	0.99
R2018:Lamc1	UTSW	1	153,118,378 (GRCm39)	missense	probably benign	0.07
R2170:Lamc1	UTSW	1	153,124,888 (GRCm39)	missense	probably benign	0.07
R2410:Lamc1	UTSW	1	153,123,141 (GRCm39)	missense	possibly damaging	0.61
R3438:Lamc1	UTSW	1	153,102,161 (GRCm39)	missense	probably benign	0.04
R3615:Lamc1	UTSW	1	153,126,896 (GRCm39)	missense	probably damaging	1.00
R3616:Lamc1	UTSW	1	153,126,896 (GRCm39)	missense	probably damaging	1.00
R3699:Lamc1	UTSW	1	153,130,951 (GRCm39)	missense	possibly damaging	0.79
R3811:Lamc1	UTSW	1	153,138,454 (GRCm39)	splice site	probably null
R4285:Lamc1	UTSW	1	153,110,298 (GRCm39)	missense	probably damaging	0.99
R4431:Lamc1	UTSW	1	153,097,274 (GRCm39)	missense	probably damaging	1.00
R4579:Lamc1	UTSW	1	153,123,015 (GRCm39)	missense	probably damaging	1.00
R4625:Lamc1	UTSW	1	153,118,442 (GRCm39)	missense	probably benign	0.04
R4649:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4650:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4651:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4652:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4653:Lamc1	UTSW	1	153,104,523 (GRCm39)	missense	probably damaging	0.99
R4784:Lamc1	UTSW	1	153,107,486 (GRCm39)	missense	probably damaging	1.00
R4785:Lamc1	UTSW	1	153,107,486 (GRCm39)	missense	probably damaging	1.00
R4853:Lamc1	UTSW	1	153,104,846 (GRCm39)	missense	possibly damaging	0.89
R5216:Lamc1	UTSW	1	153,103,442 (GRCm39)	missense	probably damaging	1.00
R5217:Lamc1	UTSW	1	153,103,442 (GRCm39)	missense	probably damaging	1.00
R5218:Lamc1	UTSW	1	153,103,442 (GRCm39)	missense	probably damaging	1.00
R5219:Lamc1	UTSW	1	153,103,442 (GRCm39)	missense	probably damaging	1.00
R5468:Lamc1	UTSW	1	153,109,310 (GRCm39)	missense	probably damaging	0.99
R5597:Lamc1	UTSW	1	153,127,716 (GRCm39)	missense	probably damaging	1.00
R5754:Lamc1	UTSW	1	153,123,030 (GRCm39)	missense	probably benign	0.01
R6233:Lamc1	UTSW	1	153,099,412 (GRCm39)	missense	probably benign
R6431:Lamc1	UTSW	1	153,097,417 (GRCm39)	missense	probably benign	0.21
R6636:Lamc1	UTSW	1	153,117,721 (GRCm39)	missense	possibly damaging	0.93
R6888:Lamc1	UTSW	1	153,138,238 (GRCm39)	missense	probably damaging	1.00
R7161:Lamc1	UTSW	1	153,102,200 (GRCm39)	missense	probably damaging	1.00
R7240:Lamc1	UTSW	1	153,110,396 (GRCm39)	missense	possibly damaging	0.82
R7388:Lamc1	UTSW	1	153,124,822 (GRCm39)	missense	probably damaging	1.00
R7474:Lamc1	UTSW	1	153,208,011 (GRCm39)	missense	possibly damaging	0.81
R7570:Lamc1	UTSW	1	153,119,021 (GRCm39)	missense	possibly damaging	0.64
R7583:Lamc1	UTSW	1	153,118,978 (GRCm39)	missense	possibly damaging	0.71
R7635:Lamc1	UTSW	1	153,124,806 (GRCm39)	missense	probably damaging	1.00
R7976:Lamc1	UTSW	1	153,123,014 (GRCm39)	missense	probably damaging	1.00
R8012:Lamc1	UTSW	1	153,097,358 (GRCm39)	missense	probably benign	0.04
R8207:Lamc1	UTSW	1	153,126,268 (GRCm39)	missense	probably damaging	1.00
R8219:Lamc1	UTSW	1	153,123,073 (GRCm39)	missense	probably damaging	1.00
R8227:Lamc1	UTSW	1	153,099,500 (GRCm39)	missense	probably benign	0.04
R8315:Lamc1	UTSW	1	153,119,167 (GRCm39)	missense	probably benign	0.00
R8417:Lamc1	UTSW	1	153,106,515 (GRCm39)	missense	probably damaging	1.00
R8685:Lamc1	UTSW	1	153,109,288 (GRCm39)	missense	probably benign	0.31
R8827:Lamc1	UTSW	1	153,097,424 (GRCm39)	missense	probably damaging	1.00
R8995:Lamc1	UTSW	1	153,207,993 (GRCm39)	missense	probably benign	0.00
R9061:Lamc1	UTSW	1	153,126,870 (GRCm39)	nonsense	probably null
R9141:Lamc1	UTSW	1	153,123,196 (GRCm39)	missense	probably benign	0.01
R9187:Lamc1	UTSW	1	153,097,434 (GRCm39)	nonsense	probably null
R9206:Lamc1	UTSW	1	153,126,197 (GRCm39)	missense	probably damaging	1.00
R9222:Lamc1	UTSW	1	153,119,087 (GRCm39)	missense	probably damaging	0.96
R9297:Lamc1	UTSW	1	153,127,746 (GRCm39)	missense	probably damaging	1.00
R9318:Lamc1	UTSW	1	153,127,746 (GRCm39)	missense	probably damaging	1.00
R9377:Lamc1	UTSW	1	153,115,009 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCTGGAGCTTAGAGTAGACTTGAG -3'
(R):5'- GCTGCCCATATTACTTCACAAC -3'

Sequencing Primer
(F):5'- CTACTTCATGTCTGCTGAAGGAATG -3'
(R):5'- CTGCTACATGGACTTAGC -3'

Posted On

2019-10-24