Mutagenetix > Incidental Mutation

Incidental Mutation 'R4653:Lamc1'

351449

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

041913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4653 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

153094668-153208532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 153104523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 59 (S59R)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027752
AA Change: S1356R

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: S1356R

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: ENSMUST00000160515

Predicted Effect

probably damaging
Transcript: ENSMUST00000161744
AA Change: S59R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124662
Gene: ENSMUSG00000026478
AA Change: S59R

Domain	Start	End	E-Value	Type
coiled coil region	1	73	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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (66/68)

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
2610008E11Rik	T	C	10: 78,903,264 (GRCm39)	T351A	probably benign	Het
3930402G23Rik	A	T	8: 10,976,075 (GRCm39)		noncoding transcript	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,932,230 (GRCm39)	E295*	probably null	Het
Abi3	T	C	11: 95,723,637 (GRCm39)	I215V	probably benign	Het
Adhfe1	G	T	1: 9,620,803 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,495,156 (GRCm39)		probably benign	Het
Ank	T	A	15: 27,590,447 (GRCm39)	W344R	probably null	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Ccdc39	A	G	3: 33,873,955 (GRCm39)		probably null	Het
Cd180	T	A	13: 102,841,416 (GRCm39)	L154H	probably damaging	Het
Cnp	A	T	11: 100,467,342 (GRCm39)	D95V	probably benign	Het
Cul1	T	C	6: 47,461,897 (GRCm39)	I20T	probably damaging	Het
Dnah6	T	C	6: 73,050,440 (GRCm39)	K3042R	possibly damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dpys	C	A	15: 39,656,642 (GRCm39)	R475L	probably damaging	Het
Dync1i2	A	G	2: 71,078,199 (GRCm39)	N276S	probably damaging	Het
Ext2	T	C	2: 93,526,504 (GRCm39)	S711G	probably benign	Het
Fancm	A	G	12: 65,129,828 (GRCm39)	Y223C	probably damaging	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Garin5b	T	C	7: 4,761,054 (GRCm39)	R553G	possibly damaging	Het
Gcat	T	C	15: 78,919,487 (GRCm39)	S151P	probably damaging	Het
Gcm2	A	T	13: 41,256,317 (GRCm39)	D477E	probably benign	Het
Git1	A	G	11: 77,395,869 (GRCm39)	N468S	possibly damaging	Het
Gtf3c1	T	C	7: 125,273,272 (GRCm39)	I622V	probably benign	Het
Hsd17b13	G	A	5: 104,113,702 (GRCm39)	L251F	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Ly9	G	T	1: 171,421,597 (GRCm39)	H441Q	probably benign	Het
Mtcl2	A	G	2: 156,882,511 (GRCm39)	F514L	probably damaging	Het
Myo15b	G	A	11: 115,770,813 (GRCm39)		probably null	Het
Nomo1	G	T	7: 45,711,237 (GRCm39)	A639S	probably benign	Het
P3h2	T	C	16: 25,924,027 (GRCm39)	D136G	probably damaging	Het
Pde4dip	A	T	3: 97,674,654 (GRCm39)	D87E	probably damaging	Het
Pdpk1	A	T	17: 24,325,871 (GRCm39)	D108E	probably benign	Het
Pex26	C	T	6: 121,167,084 (GRCm39)	S231L	probably damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Ryr3	T	A	2: 112,483,108 (GRCm39)	N4213I	probably damaging	Het
Slc7a14	A	G	3: 31,311,831 (GRCm39)	V63A	probably damaging	Het
Sppl2a	C	T	2: 126,762,233 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,455,580 (GRCm39)	W3077R	probably damaging	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Sv2a	T	C	3: 96,098,078 (GRCm39)		probably null	Het
Themis2	A	G	4: 132,510,287 (GRCm39)	S638P	probably benign	Het
Trabd	A	G	15: 88,970,042 (GRCm39)	Y346C	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trmt1l	G	A	1: 151,315,320 (GRCm39)	V16I	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Usp13	A	T	3: 32,892,073 (GRCm39)	Q84L	probably damaging	Het
Vmn1r172	G	T	7: 23,359,997 (GRCm39)	G294V	probably damaging	Het
Vmn2r59	A	T	7: 41,693,228 (GRCm39)	H457Q	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vps8	T	C	16: 21,318,960 (GRCm39)	Y602H	probably damaging	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	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
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
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'- ACCACTGCATCTAAATAGTCTATGGG -3'
(R):5'- TTAAACTGCTCAGGTGGGAG -3'

Sequencing Primer
(F):5'- GGGAATTACCATACTCTTTCGTTCTG -3'
(R):5'- AGCCTAGCGTGTCTAGCG -3'

Posted On

2015-10-08