Mutagenetix > Incidental Mutation

Incidental Mutation 'R0494:Lamc1'

42607

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

038691-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0494 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

153218922-153332786 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 153246936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027752 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027752

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478

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

0.9501

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (109/112)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	G	A	5: 9,420,723		probably null	Het
Aatf	T	C	11: 84,511,513	I116V	probably benign	Het
Abhd18	T	C	3: 40,916,688	F94S	probably damaging	Het
Adam28	T	A	14: 68,630,792		probably benign	Het
Amn1	A	T	6: 149,185,136		probably benign	Het
Arhgap32	T	C	9: 32,258,903	V993A	probably damaging	Het
Arhgap33	A	T	7: 30,524,496	S703T	probably damaging	Het
Arhgef1	T	C	7: 24,919,360		probably benign	Het
Atg2a	A	G	19: 6,253,377	Y1083C	probably damaging	Het
Atp2a3	T	C	11: 72,981,905	F760L	probably damaging	Het
B9d1	A	G	11: 61,512,445		probably benign	Het
Batf	C	T	12: 85,686,862		probably benign	Het
BC051019	T	A	7: 109,717,975	Y170F	probably benign	Het
Bphl	T	C	13: 34,037,771	*37Q	probably null	Het
Cab39l	T	C	14: 59,499,559	S43P	probably damaging	Het
Cad	A	G	5: 31,077,512		probably benign	Het
Cct4	T	G	11: 22,996,014	S119A	probably benign	Het
Cd163	G	A	6: 124,311,449	V280M	probably damaging	Het
Cd86	A	G	16: 36,618,637		probably benign	Het
Cdh23	G	A	10: 60,316,596		probably benign	Het
Cdhr5	A	G	7: 141,272,518	F145S	probably damaging	Het
Cdt1	T	C	8: 122,572,060	S479P	possibly damaging	Het
Ces2g	T	C	8: 104,966,567	V372A	probably benign	Het
Chrna3	T	C	9: 55,022,278	D92G	probably damaging	Het
Cndp1	A	G	18: 84,619,533	S359P	probably benign	Het
Cops4	A	G	5: 100,528,662	Q93R	probably damaging	Het
Dgka	G	C	10: 128,721,083		probably benign	Het
Dmp1	A	T	5: 104,212,208	D250V	probably damaging	Het
Dnajb2	C	T	1: 75,239,634		probably benign	Het
Dock9	T	C	14: 121,662,584	T113A	possibly damaging	Het
Egln3	T	A	12: 54,203,321	I81F	probably benign	Het
Elovl5	T	C	9: 77,960,917	V37A	probably benign	Het
Esco1	A	T	18: 10,594,940	N115K	probably benign	Het
Fat1	A	T	8: 44,950,542	N110I	probably damaging	Het
Fezf1	T	A	6: 23,246,055	K370N	probably damaging	Het
Galnt18	T	A	7: 111,554,564	K284N	probably damaging	Het
Glt8d1	C	A	14: 31,011,623	T355K	possibly damaging	Het
Gm13083	G	T	4: 143,616,156	V278F	probably benign	Het
Gm17455	G	A	10: 60,403,235	R93H	possibly damaging	Het
Gng8	T	A	7: 16,895,288	D46E	probably benign	Het
Gpx4	T	C	10: 80,056,177		probably benign	Het
Grk2	A	T	19: 4,291,319	N189K	probably damaging	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Hibch	A	G	1: 52,902,896	E237G	possibly damaging	Het
Hipk2	C	T	6: 38,729,989	A682T	probably benign	Het
Hmcn1	G	T	1: 150,732,792		probably benign	Het
Htt	A	G	5: 34,821,844	D857G	possibly damaging	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Igsf8	A	G	1: 172,318,698	E421G	probably benign	Het
Kif26a	T	A	12: 112,179,471		probably null	Het
Klhl26	T	C	8: 70,451,601	Y519C	probably damaging	Het
Mical3	A	T	6: 120,959,201	S1455T	possibly damaging	Het
Mitf	G	A	6: 97,994,429	G186S	probably benign	Het
Ms4a15	G	A	19: 10,981,358		probably benign	Het
Myo5b	A	G	18: 74,653,967	E481G	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nbeal2	C	A	9: 110,627,187	V1686L	probably damaging	Het
Nedd4l	T	G	18: 65,173,021	S335A	possibly damaging	Het
Nos1	A	T	5: 117,905,474	N605Y	probably damaging	Het
Nyx	C	A	X: 13,487,269	T454K	probably benign	Het
Olfr666	A	G	7: 104,893,271	L119P	probably damaging	Het
Olfr972	T	A	9: 39,873,402	N42K	probably damaging	Het
Pcdhb12	T	A	18: 37,438,095	F765I	probably benign	Het
Pex3	C	T	10: 13,527,788	G330R	probably damaging	Het
Pfkfb1	T	C	X: 150,634,613	Y339H	probably damaging	Het
Pias1	G	A	9: 62,887,311	Q26*	probably null	Het
Pik3cg	C	A	12: 32,204,546	V481L	possibly damaging	Het
Plcg2	C	T	8: 117,556,104	T108M	probably damaging	Het
Pon2	G	A	6: 5,267,059		probably benign	Het
Ppef2	A	T	5: 92,253,093		probably benign	Het
Ptpn22	A	G	3: 103,860,455	K18E	probably damaging	Het
Pum2	C	T	12: 8,721,736	Q360*	probably null	Het
Rab10	A	C	12: 3,252,723		probably null	Het
Ranbp2	T	G	10: 58,467,432	S809A	possibly damaging	Het
Rbms2	A	G	10: 128,133,670	V348A	probably benign	Het
Rnf213	A	G	11: 119,426,012	E988G	possibly damaging	Het
Rnf213	A	T	11: 119,443,120	M3052L	probably damaging	Het
Rpl14	C	A	9: 120,574,362		probably benign	Het
Rplp0	A	G	5: 115,559,872	Y13C	possibly damaging	Het
Ryr1	A	G	7: 29,003,793		probably benign	Het
Sac3d1	T	C	19: 6,118,294	E98G	probably damaging	Het
Scn10a	T	A	9: 119,624,100	D1242V	probably damaging	Het
Scnn1b	T	C	7: 121,899,458	Y74H	probably damaging	Het
Serpinb3a	C	T	1: 107,047,482	W198*	probably null	Het
Sf3b4	C	A	3: 96,173,701	D108E	probably damaging	Het
Shprh	T	C	10: 11,157,191	V307A	probably damaging	Het
Slc2a2	A	G	3: 28,727,277	D458G	probably benign	Het
Spata5	G	C	3: 37,432,163	D345H	possibly damaging	Het
Strc	T	C	2: 121,379,533	D103G	probably damaging	Het
Synrg	T	C	11: 84,019,543	I923T	probably benign	Het
Tango6	G	T	8: 106,735,682		probably benign	Het
Tas2r106	A	G	6: 131,678,576	L104P	probably damaging	Het
Tat	C	T	8: 109,991,684	P67L	probably damaging	Het
Tln2	A	C	9: 67,355,197	S593A	probably benign	Het
Tmem94	A	G	11: 115,794,781		probably null	Het
Tppp3	G	A	8: 105,468,172	A109V	probably benign	Het
Trank1	T	C	9: 111,391,293	F2366S	probably benign	Het
Trpc5	T	A	X: 144,481,396	Y155F	probably damaging	Het
Trpv1	A	G	11: 73,260,442	T451A	probably benign	Het
Ttc9	C	A	12: 81,631,649	A82E	probably damaging	Het
Ttll11	T	A	2: 35,944,874	N180I	probably damaging	Het
Ttn	T	C	2: 76,736,399	N28050S	possibly damaging	Het
Vmn2r73	G	T	7: 85,872,932	H66Q	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Wnt3	G	A	11: 103,812,315	C208Y	probably damaging	Het
Zfp521	C	A	18: 13,845,268	C696F	probably damaging	Het
Zfp521	T	C	18: 13,846,870	D162G	probably damaging	Het
Zfp869	A	T	8: 69,706,404	H506Q	probably damaging	Het

Other mutations in Lamc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Lamc1	APN	1	153240495	missense	probably damaging	1.00
IGL01397:Lamc1	APN	1	153251134	missense	probably damaging	1.00
IGL01661:Lamc1	APN	1	153221573	missense	possibly damaging	0.89
IGL01894:Lamc1	APN	1	153247082	missense	possibly damaging	0.51
IGL02000:Lamc1	APN	1	153240433	missense	probably damaging	1.00
IGL02649:Lamc1	APN	1	153247042	missense	possibly damaging	0.78
IGL02749:Lamc1	APN	1	153249853	missense	possibly damaging	0.51
IGL02819:Lamc1	APN	1	153250661	missense	probably damaging	1.00
IGL02831:Lamc1	APN	1	153247055	missense	probably benign	0.00
IGL03069:Lamc1	APN	1	153239381	missense	probably damaging	1.00
IGL03143:Lamc1	APN	1	153332274	missense	probably benign	0.00
IGL03166:Lamc1	APN	1	153332301	missense	probably benign	0.01
IGL03285:Lamc1	APN	1	153227685	missense	possibly damaging	0.96
IGL03294:Lamc1	APN	1	153262646	missense	probably damaging	1.00
pride	UTSW	1	153247284	missense	probably benign	0.01
Stratum	UTSW	1	153251124	nonsense	probably null
tier	UTSW	1	153250522	missense	probably damaging	1.00
PIT4280001:Lamc1	UTSW	1	153243471	missense	probably damaging	1.00
R0003:Lamc1	UTSW	1	153262439	missense	probably damaging	0.99
R0003:Lamc1	UTSW	1	153262439	missense	probably damaging	0.99
R0027:Lamc1	UTSW	1	153262583	missense	probably damaging	1.00
R0060:Lamc1	UTSW	1	153241868	unclassified	probably benign
R0078:Lamc1	UTSW	1	153229190	missense	probably damaging	0.96
R0157:Lamc1	UTSW	1	153262607	missense	probably benign	0.00
R0282:Lamc1	UTSW	1	153255312	missense	probably benign
R0374:Lamc1	UTSW	1	153251065	splice site	probably benign
R0502:Lamc1	UTSW	1	153246932	splice site	probably benign
R0755:Lamc1	UTSW	1	153247450	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153234580	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153234595	missense	probably damaging	1.00
R0791:Lamc1	UTSW	1	153234612	missense	probably benign	0.01
R0792:Lamc1	UTSW	1	153234580	missense	possibly damaging	0.94
R0792:Lamc1	UTSW	1	153234595	missense	probably damaging	1.00
R0792:Lamc1	UTSW	1	153234612	missense	probably benign	0.01
R0892:Lamc1	UTSW	1	153332254	missense	possibly damaging	0.95
R0941:Lamc1	UTSW	1	153332274	missense	possibly damaging	0.72
R0961:Lamc1	UTSW	1	153221646	frame shift	probably null
R0961:Lamc1	UTSW	1	153221700	missense	probably benign	0.03
R0963:Lamc1	UTSW	1	153243386	missense	probably benign
R1127:Lamc1	UTSW	1	153250459	missense	possibly damaging	0.69
R1173:Lamc1	UTSW	1	153247231	splice site	probably benign
R1175:Lamc1	UTSW	1	153247231	splice site	probably benign
R1449:Lamc1	UTSW	1	153250495	missense	probably benign
R1481:Lamc1	UTSW	1	153221634	missense	probably damaging	1.00
R1565:Lamc1	UTSW	1	153242743	missense	probably benign	0.34
R1583:Lamc1	UTSW	1	153243478	critical splice acceptor site	probably null
R1643:Lamc1	UTSW	1	153258072	splice site	probably benign
R1652:Lamc1	UTSW	1	153249646	missense	probably damaging	1.00
R1691:Lamc1	UTSW	1	153247249	missense	probably benign	0.04
R1854:Lamc1	UTSW	1	153249872	missense	probably damaging	0.99
R2018:Lamc1	UTSW	1	153242632	missense	probably benign	0.07
R2170:Lamc1	UTSW	1	153249142	missense	probably benign	0.07
R2410:Lamc1	UTSW	1	153247395	missense	possibly damaging	0.61
R3438:Lamc1	UTSW	1	153226415	missense	probably benign	0.04
R3615:Lamc1	UTSW	1	153251150	missense	probably damaging	1.00
R3616:Lamc1	UTSW	1	153251150	missense	probably damaging	1.00
R3699:Lamc1	UTSW	1	153255205	missense	possibly damaging	0.79
R3811:Lamc1	UTSW	1	153262708	splice site	probably null
R4285:Lamc1	UTSW	1	153234552	missense	probably damaging	0.99
R4431:Lamc1	UTSW	1	153221528	missense	probably damaging	1.00
R4579:Lamc1	UTSW	1	153247269	missense	probably damaging	1.00
R4625:Lamc1	UTSW	1	153242696	missense	probably benign	0.04
R4649:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4650:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4651:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4652:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4653:Lamc1	UTSW	1	153228777	missense	probably damaging	0.99
R4784:Lamc1	UTSW	1	153231740	missense	probably damaging	1.00
R4785:Lamc1	UTSW	1	153231740	missense	probably damaging	1.00
R4853:Lamc1	UTSW	1	153229100	missense	possibly damaging	0.89
R5216:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5217:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5218:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5219:Lamc1	UTSW	1	153227696	missense	probably damaging	1.00
R5468:Lamc1	UTSW	1	153233564	missense	probably damaging	0.99
R5597:Lamc1	UTSW	1	153251970	missense	probably damaging	1.00
R5754:Lamc1	UTSW	1	153247284	missense	probably benign	0.01
R6233:Lamc1	UTSW	1	153223666	missense	probably benign
R6431:Lamc1	UTSW	1	153221671	missense	probably benign	0.21
R6636:Lamc1	UTSW	1	153241975	missense	possibly damaging	0.93
R6888:Lamc1	UTSW	1	153262492	missense	probably damaging	1.00
R7161:Lamc1	UTSW	1	153226454	missense	probably damaging	1.00
R7240:Lamc1	UTSW	1	153234650	missense	possibly damaging	0.82
R7388:Lamc1	UTSW	1	153249076	missense	probably damaging	1.00
R7474:Lamc1	UTSW	1	153332265	missense	possibly damaging	0.81
R7570:Lamc1	UTSW	1	153243275	missense	possibly damaging	0.64
R7583:Lamc1	UTSW	1	153243232	missense	possibly damaging	0.71
R7597:Lamc1	UTSW	1	153240454	missense	possibly damaging	0.94
R7635:Lamc1	UTSW	1	153249060	missense	probably damaging	1.00
R7976:Lamc1	UTSW	1	153247268	missense	probably damaging	1.00
R8012:Lamc1	UTSW	1	153221612	missense	probably benign	0.04
R8207:Lamc1	UTSW	1	153250522	missense	probably damaging	1.00
R8219:Lamc1	UTSW	1	153247327	missense	probably damaging	1.00
R8227:Lamc1	UTSW	1	153223754	missense	probably benign	0.04
R8315:Lamc1	UTSW	1	153243421	missense	probably benign	0.00
R8417:Lamc1	UTSW	1	153230769	missense	probably damaging	1.00
R8685:Lamc1	UTSW	1	153233542	missense	probably benign	0.31
R8827:Lamc1	UTSW	1	153221678	missense	probably damaging	1.00
R8995:Lamc1	UTSW	1	153332247	missense	probably benign	0.00
R9061:Lamc1	UTSW	1	153251124	nonsense	probably null
R9141:Lamc1	UTSW	1	153247450	missense	probably benign	0.01
R9187:Lamc1	UTSW	1	153221688	nonsense	probably null
R9206:Lamc1	UTSW	1	153250451	missense	probably damaging	1.00
R9222:Lamc1	UTSW	1	153243341	missense	probably damaging	0.96
R9297:Lamc1	UTSW	1	153252000	missense	probably damaging	1.00
R9318:Lamc1	UTSW	1	153252000	missense	probably damaging	1.00
R9377:Lamc1	UTSW	1	153239263	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCACACAGCCTTGAACAGAG -3'
(R):5'- GTACCTGTAATGGGCACAGTGAGAC -3'

Sequencing Primer
(F):5'- CTTGAACAGAGCACTCAGTTTC -3'
(R):5'- ATAGTGTATCTCCACTCTCGCAATAG -3'

Posted On

2013-05-23