Mutagenetix > Incidental Mutation

Incidental Mutation 'R5754:Lamc1'

444927

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153094668-153208532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153123030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 720 (V720E)

Ref Sequence

ENSEMBL: ENSMUSP00000027752 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027752
AA Change: V720E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: V720E

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

noncoding transcript
Transcript: ENSMUST00000159251

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,984,320 (GRCm39)	N683K	probably benign	Het
Atad2b	T	A	12: 5,060,351 (GRCm39)	H915Q	probably benign	Het
Bltp2	T	C	11: 78,160,367 (GRCm39)	S609P	probably damaging	Het
Camk1d	G	T	2: 5,449,908 (GRCm39)	P91Q	probably benign	Het
Camk1d	G	C	2: 5,449,910 (GRCm39)	S90R	probably damaging	Het
Card11	T	C	5: 140,885,524 (GRCm39)	E345G	probably damaging	Het
Ccpg1	G	T	9: 72,920,526 (GRCm39)	V714L	possibly damaging	Het
Chst9	T	C	18: 15,586,254 (GRCm39)	E103G	possibly damaging	Het
Cnga1	C	T	5: 72,762,615 (GRCm39)	V300I	probably benign	Het
Crb1	T	C	1: 139,159,337 (GRCm39)	Y1295C	probably damaging	Het
Dnah5	A	G	15: 28,402,014 (GRCm39)	T3392A	probably benign	Het
Elp3	C	A	14: 65,785,439 (GRCm39)	R473L	probably damaging	Het
Epgn	T	A	5: 91,181,807 (GRCm39)	I145N	probably benign	Het
Fam107b	G	A	2: 3,779,457 (GRCm39)	G220D	probably damaging	Het
Fbn2	A	G	18: 58,257,383 (GRCm39)	V328A	probably benign	Het
Fn1	A	T	1: 71,639,481 (GRCm39)	I1770N	probably damaging	Het
Fndc1	T	A	17: 7,988,585 (GRCm39)	Y1159F	unknown	Het
Frem2	A	G	3: 53,444,679 (GRCm39)	L2484P	probably damaging	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf3c1	A	T	7: 125,243,237 (GRCm39)	V1789D	possibly damaging	Het
Hmgcl	T	C	4: 135,677,898 (GRCm39)	V33A	probably damaging	Het
Ighv7-1	A	G	12: 113,860,239 (GRCm39)	F51S	probably damaging	Het
Kcna6	A	G	6: 126,716,688 (GRCm39)	L67P	probably damaging	Het
Lrch1	T	C	14: 75,054,558 (GRCm39)	D312G	probably damaging	Het
Mix23	A	G	16: 35,905,427 (GRCm39)	N63S	probably benign	Het
Nav2	A	G	7: 49,206,794 (GRCm39)	T1540A	probably damaging	Het
Nisch	A	T	14: 30,913,373 (GRCm39)		probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Npc1l1	A	G	11: 6,177,839 (GRCm39)	Y524H	probably damaging	Het
Nrap	T	C	19: 56,377,916 (GRCm39)	T25A	possibly damaging	Het
Nusap1	A	G	2: 119,477,580 (GRCm39)	K363R	probably damaging	Het
Or5ar1	T	C	2: 85,671,656 (GRCm39)	T160A	probably damaging	Het
Or5b124	A	G	19: 13,611,357 (GRCm39)	E294G	probably damaging	Het
Or7e177	T	A	9: 20,212,390 (GRCm39)	L298Q	probably damaging	Het
Pde4d	T	C	13: 110,074,547 (GRCm39)	I384T	probably damaging	Het
Pkhd1	T	A	1: 20,593,875 (GRCm39)	R1413*	probably null	Het
Plcd3	T	A	11: 102,964,592 (GRCm39)	Y593F	possibly damaging	Het
Plxna1	A	T	6: 89,310,087 (GRCm39)	I1026N	possibly damaging	Het
Podxl	T	A	6: 31,501,329 (GRCm39)	I409F	probably damaging	Het
Polq	A	C	16: 36,837,625 (GRCm39)	Q179P	probably benign	Het
Pomt1	T	C	2: 32,137,602 (GRCm39)	V401A	probably damaging	Het
Qdpr	C	T	5: 45,596,727 (GRCm39)	G146S	probably damaging	Het
Shc4	T	A	2: 125,512,218 (GRCm39)	Q2L	probably damaging	Het
Skint8	T	A	4: 111,807,387 (GRCm39)	C358S	probably benign	Het
Smc5	T	C	19: 23,221,467 (GRCm39)	E354G	possibly damaging	Het
Snx30	T	C	4: 59,868,275 (GRCm39)	V129A	probably damaging	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Spag6	T	A	2: 18,703,613 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,763,036 (GRCm39)	Y450N	probably benign	Het
Trip11	C	T	12: 101,851,924 (GRCm39)	W428*	probably null	Het
Umodl1	T	A	17: 31,213,761 (GRCm39)	V966E	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r72	T	C	7: 11,403,776 (GRCm39)	Y224C	probably damaging	Het
Whrn	A	G	4: 63,334,825 (GRCm39)	S748P	probably damaging	Het
Zbtb41	T	A	1: 139,359,816 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,526,964 (GRCm39)	F954L	probably damaging	Het
Zfp456	A	T	13: 67,514,359 (GRCm39)	I449K	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
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'- TTGAGTCCCCATAGTACCCATC -3'
(R):5'- TGGGTACTTGGATGATGTCACC -3'

Sequencing Primer
(F):5'- ATCGCTACATTTCTCACAGTGGGG -3'
(R):5'- GATGTCACCTTGCAAAGTGC -3'

Posted On

2016-11-21