Mutagenetix > Incidental Mutation

Incidental Mutation 'R0027:Lamc1'

44492

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

038322-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0027 (G1) of strain 730

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

153094668-153208532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153138329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 175 (Y175C)

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: Y175C

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

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: Y175C

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

Meta Mutation Damage Score

0.9422

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

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
Adamts12	A	T	15: 11,285,959 (GRCm39)	I723F	probably damaging	Het
Anapc1	G	T	2: 128,483,431 (GRCm39)	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 98,082,204 (GRCm39)	E1201V	possibly damaging	Het
Capn12	T	A	7: 28,581,385 (GRCm39)	H79Q	probably benign	Het
Caprin1	A	T	2: 103,605,925 (GRCm39)		probably benign	Het
Carmil3	T	A	14: 55,731,860 (GRCm39)	F196Y	probably damaging	Het
Casp8ap2	A	G	4: 32,643,810 (GRCm39)	H961R	probably benign	Het
Cdkl3	C	T	11: 51,923,176 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col13a1	A	G	10: 61,685,940 (GRCm39)	L684P	unknown	Het
D430041D05Rik	A	T	2: 104,085,389 (GRCm39)	F1053L	probably benign	Het
Dab1	T	C	4: 104,561,396 (GRCm39)		probably benign	Het
Dmxl1	A	T	18: 50,090,362 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eml1	T	C	12: 108,502,557 (GRCm39)	C708R	possibly damaging	Het
Fam131b	T	A	6: 42,295,182 (GRCm39)	M304L	probably benign	Het
Foxk1	A	T	5: 142,436,095 (GRCm39)	I321F	probably damaging	Het
Gm10306	C	T	4: 94,445,027 (GRCm39)		probably benign	Het
Gm10985	TA	TANA	3: 53,752,677 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,293,285 (GRCm39)		probably benign	Het
Hcn3	A	G	3: 89,067,132 (GRCm39)	S79P	probably damaging	Het
Hspa4	T	A	11: 53,174,412 (GRCm39)	M203L	probably benign	Het
Ints15	G	A	5: 143,293,817 (GRCm39)	T220I	probably damaging	Het
Kctd7	G	A	5: 130,181,414 (GRCm39)	R279H	probably damaging	Het
Kif11	C	T	19: 37,395,431 (GRCm39)		probably benign	Het
Klf13	T	C	7: 63,541,509 (GRCm39)	N206S	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lrpprc	G	A	17: 85,074,435 (GRCm39)	R491*	probably null	Het
Madd	T	A	2: 90,982,894 (GRCm39)	I1350F	probably damaging	Het
Mbtd1	T	C	11: 93,815,375 (GRCm39)	V321A	possibly damaging	Het
Mon2	G	A	10: 122,871,953 (GRCm39)	S357L	possibly damaging	Het
Ndst3	A	G	3: 123,465,162 (GRCm39)	V270A	probably damaging	Het
Nlrp2	T	C	7: 5,325,447 (GRCm39)	T742A	probably damaging	Het
Nopchap1	G	A	10: 83,200,393 (GRCm39)		probably benign	Het
Or6d14	T	C	6: 116,533,910 (GRCm39)	S175P	probably damaging	Het
Papola	A	C	12: 105,799,395 (GRCm39)	S675R	probably benign	Het
Pcdh9	T	A	14: 94,126,081 (GRCm39)	I30F	probably null	Het
Prl6a1	T	A	13: 27,502,011 (GRCm39)	L126Q	probably damaging	Het
Prr29	A	G	11: 106,267,102 (GRCm39)	E89G	possibly damaging	Het
Psmd1	T	C	1: 86,021,987 (GRCm39)		probably benign	Het
Rad9b	A	G	5: 122,489,786 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,430,398 (GRCm39)	V939A	probably benign	Het
Rnf135	T	A	11: 80,084,768 (GRCm39)	S180R	probably benign	Het
Sarm1	C	A	11: 78,378,917 (GRCm39)	R376L	probably damaging	Het
Scap	C	A	9: 110,208,798 (GRCm39)	P613Q	probably benign	Het
Scube3	C	T	17: 28,383,331 (GRCm39)	R374*	probably null	Het
Setx	T	G	2: 29,029,233 (GRCm39)	V167G	probably damaging	Het
Snrnp40	T	A	4: 130,262,066 (GRCm39)	H151Q	probably damaging	Het
Sox21	G	T	14: 118,473,029 (GRCm39)	H7N	probably benign	Het
Stard9	A	T	2: 120,533,982 (GRCm39)	Q3413L	probably benign	Het
Sycp1	A	G	3: 102,803,226 (GRCm39)	V528A	probably benign	Het
Tcl1b3	A	T	12: 105,157,498 (GRCm39)	S47C	probably damaging	Het
Treml4	T	C	17: 48,571,962 (GRCm39)	S122P	possibly damaging	Het
Trip11	C	T	12: 101,851,428 (GRCm39)	A879T	probably benign	Het
Ubr4	C	A	4: 139,127,704 (GRCm39)	N567K	probably damaging	Het
Zan	T	C	5: 137,404,781 (GRCm39)		probably benign	Het
Zfp804a	G	A	2: 82,087,544 (GRCm39)	D458N	probably damaging	Het
Zic2	T	C	14: 122,713,755 (GRCm39)	M223T	possibly damaging	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
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	153,110,358 (GRCm39)	missense	probably benign	0.01
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
R0792:Lamc1	UTSW	1	153,110,341 (GRCm39)	missense	probably damaging	1.00
R0792:Lamc1	UTSW	1	153,110,326 (GRCm39)	missense	possibly damaging	0.94
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	153,097,392 (GRCm39)	frame shift	probably null
R0961:Lamc1	UTSW	1	153,097,446 (GRCm39)	missense	probably benign	0.03
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
R7597:Lamc1	UTSW	1	153,116,200 (GRCm39)	missense	possibly damaging	0.94
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'- TCCTTCCAGGGTTGAAAAGGCCAC -3'
(R):5'- TGGGCAATTTCCAGGCTTAGACG -3'

Sequencing Primer
(F):5'- TTGAAAAGGCCACGTTGC -3'
(R):5'- CAGGCTTAGACGAGCCTAC -3'

Posted On

2013-06-11