Mutagenetix > Incidental Mutation

Incidental Mutation 'R0791:Lamc1'

82375

Institutional Source

Beutler Lab

Gene Symbol

Lamc1

Ensembl Gene

ENSMUSG00000026478

Gene Name

laminin, gamma 1

Synonyms

laminin B2, Lamb2

MMRRC Submission

038971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153218922-153332786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 153234580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 1116 (Q1116H)

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: Q1116H

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: Q1116H

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

unknown
Transcript: ENSMUST00000163011
AA Change: Q48H

SMART Domains

Protein: ENSMUSP00000124216
Gene: ENSMUSG00000026478
AA Change: Q48H

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

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (59/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,933,868 (GRCm38)		probably null	Het
Ahnak	G	A	19: 9,016,734 (GRCm38)	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,194,112 (GRCm38)	Y55H	probably damaging	Het
Atp2b2	C	T	6: 113,773,388 (GRCm38)	R625H	probably damaging	Het
Bpifb2	T	C	2: 153,878,519 (GRCm38)	V66A	probably benign	Het
Ccdc33	T	C	9: 58,028,763 (GRCm38)	T950A	possibly damaging	Het
Ceacam19	A	T	7: 19,882,632 (GRCm38)		probably null	Het
Cenpn	T	A	8: 116,940,820 (GRCm38)		probably benign	Het
Ces1f	A	T	8: 93,271,889 (GRCm38)	Y160N	possibly damaging	Het
Clca1	A	C	3: 145,004,854 (GRCm38)	S863A	probably benign	Het
Cntrl	T	A	2: 35,155,279 (GRCm38)	I781K	possibly damaging	Het
Dock4	C	T	12: 40,704,481 (GRCm38)	R490W	probably damaging	Het
Evpl	T	A	11: 116,227,723 (GRCm38)	Q686L	probably damaging	Het
Fbxw10	A	G	11: 62,847,456 (GRCm38)	S59G	probably benign	Het
Glb1l2	A	G	9: 26,769,751 (GRCm38)	V218A	possibly damaging	Het
Gpatch1	A	T	7: 35,281,376 (GRCm38)		probably benign	Het
Grin2c	G	A	11: 115,250,646 (GRCm38)	P882L	probably damaging	Het
H2-Ob	C	A	17: 34,242,614 (GRCm38)	T109N	probably damaging	Het
Ipo8	A	G	6: 148,821,727 (GRCm38)	V64A	possibly damaging	Het
Jpt2	C	A	17: 24,948,673 (GRCm38)	A101S	probably benign	Het
Large1	A	G	8: 73,048,479 (GRCm38)		probably benign	Het
Lig4	A	T	8: 9,973,012 (GRCm38)	V256E	possibly damaging	Het
Mpz	C	A	1: 171,158,774 (GRCm38)	Q86K	possibly damaging	Het
Mrps24	A	G	11: 5,704,684 (GRCm38)	V90A	possibly damaging	Het
Mtdh	A	G	15: 34,116,382 (GRCm38)		probably benign	Het
Mtor	T	C	4: 148,462,910 (GRCm38)	V450A	probably benign	Het
Mycbpap	A	G	11: 94,511,623 (GRCm38)		probably null	Het
Myo6	T	A	9: 80,262,374 (GRCm38)		probably benign	Het
Myom1	A	T	17: 71,121,136 (GRCm38)	I1450F	probably damaging	Het
Nbas	T	A	12: 13,482,633 (GRCm38)	S1781T	probably benign	Het
Nedd1	T	C	10: 92,719,614 (GRCm38)	E3G	probably damaging	Het
Nt5c3	T	C	6: 56,886,749 (GRCm38)	T149A	probably benign	Het
Olfr477	A	G	7: 107,990,533 (GRCm38)	H56R	probably benign	Het
Osbp2	G	A	11: 3,711,882 (GRCm38)		probably benign	Het
Paip1	T	C	13: 119,430,318 (GRCm38)	S54P	possibly damaging	Het
Pole2	G	A	12: 69,207,929 (GRCm38)	L381F	probably benign	Het
Prdm14	G	T	1: 13,125,744 (GRCm38)	A31E	probably benign	Het
Ptpn14	C	T	1: 189,836,440 (GRCm38)		probably benign	Het
Rims2	A	G	15: 39,679,625 (GRCm38)		probably benign	Het
Rnf20	A	G	4: 49,638,197 (GRCm38)	N103S	possibly damaging	Het
Sema3g	T	A	14: 31,220,904 (GRCm38)		probably benign	Het
Slc30a6	T	C	17: 74,415,645 (GRCm38)	S236P	possibly damaging	Het
Slc5a1	T	C	5: 33,158,077 (GRCm38)		probably benign	Het
Snx25	A	T	8: 46,124,082 (GRCm38)	M1K	probably null	Het
Synpo2	A	G	3: 123,113,186 (GRCm38)	V827A	probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Trak2	A	T	1: 58,903,661 (GRCm38)	M862K	probably benign	Het
Trim42	A	T	9: 97,365,679 (GRCm38)	H321Q	probably damaging	Het
Twnk	T	C	19: 45,010,254 (GRCm38)		probably benign	Het
Tymp	T	C	15: 89,374,818 (GRCm38)	K221R	probably damaging	Het
Uaca	C	A	9: 60,872,059 (GRCm38)	Q1243K	possibly damaging	Het
Vwa8	T	C	14: 78,994,576 (GRCm38)		probably benign	Het
Wnt4	C	T	4: 137,289,283 (GRCm38)	R83W	probably damaging	Het
Zfp820	T	C	17: 21,819,528 (GRCm38)	D273G	probably benign	Het
Zfp974	A	T	7: 27,910,085 (GRCm38)	Y738*	probably null	Het
Zkscan4	A	C	13: 21,483,911 (GRCm38)	E177D	probably benign	Het

Other mutations in Lamc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Lamc1	APN	1	153,240,495 (GRCm38)	missense	probably damaging	1.00
IGL01397:Lamc1	APN	1	153,251,134 (GRCm38)	missense	probably damaging	1.00
IGL01661:Lamc1	APN	1	153,221,573 (GRCm38)	missense	possibly damaging	0.89
IGL01894:Lamc1	APN	1	153,247,082 (GRCm38)	missense	possibly damaging	0.51
IGL02000:Lamc1	APN	1	153,240,433 (GRCm38)	missense	probably damaging	1.00
IGL02649:Lamc1	APN	1	153,247,042 (GRCm38)	missense	possibly damaging	0.78
IGL02749:Lamc1	APN	1	153,249,853 (GRCm38)	missense	possibly damaging	0.51
IGL02819:Lamc1	APN	1	153,250,661 (GRCm38)	missense	probably damaging	1.00
IGL02831:Lamc1	APN	1	153,247,055 (GRCm38)	missense	probably benign	0.00
IGL03069:Lamc1	APN	1	153,239,381 (GRCm38)	missense	probably damaging	1.00
IGL03143:Lamc1	APN	1	153,332,274 (GRCm38)	missense	probably benign	0.00
IGL03166:Lamc1	APN	1	153,332,301 (GRCm38)	missense	probably benign	0.01
IGL03285:Lamc1	APN	1	153,227,685 (GRCm38)	missense	possibly damaging	0.96
IGL03294:Lamc1	APN	1	153,262,646 (GRCm38)	missense	probably damaging	1.00
pride	UTSW	1	153,247,284 (GRCm38)	missense	probably benign	0.01
Stratum	UTSW	1	153,251,124 (GRCm38)	nonsense	probably null
tier	UTSW	1	153,250,522 (GRCm38)	missense	probably damaging	1.00
PIT4280001:Lamc1	UTSW	1	153,243,471 (GRCm38)	missense	probably damaging	1.00
R0003:Lamc1	UTSW	1	153,262,439 (GRCm38)	missense	probably damaging	0.99
R0003:Lamc1	UTSW	1	153,262,439 (GRCm38)	missense	probably damaging	0.99
R0027:Lamc1	UTSW	1	153,262,583 (GRCm38)	missense	probably damaging	1.00
R0060:Lamc1	UTSW	1	153,241,868 (GRCm38)	unclassified	probably benign
R0078:Lamc1	UTSW	1	153,229,190 (GRCm38)	missense	probably damaging	0.96
R0157:Lamc1	UTSW	1	153,262,607 (GRCm38)	missense	probably benign	0.00
R0282:Lamc1	UTSW	1	153,255,312 (GRCm38)	missense	probably benign
R0374:Lamc1	UTSW	1	153,251,065 (GRCm38)	splice site	probably benign
R0494:Lamc1	UTSW	1	153,246,936 (GRCm38)	critical splice donor site	probably null
R0502:Lamc1	UTSW	1	153,246,932 (GRCm38)	splice site	probably benign
R0755:Lamc1	UTSW	1	153,247,450 (GRCm38)	missense	possibly damaging	0.94
R0791:Lamc1	UTSW	1	153,234,612 (GRCm38)	missense	probably benign	0.01
R0791:Lamc1	UTSW	1	153,234,595 (GRCm38)	missense	probably damaging	1.00
R0792:Lamc1	UTSW	1	153,234,612 (GRCm38)	missense	probably benign	0.01
R0792:Lamc1	UTSW	1	153,234,580 (GRCm38)	missense	possibly damaging	0.94
R0792:Lamc1	UTSW	1	153,234,595 (GRCm38)	missense	probably damaging	1.00
R0892:Lamc1	UTSW	1	153,332,254 (GRCm38)	missense	possibly damaging	0.95
R0941:Lamc1	UTSW	1	153,332,274 (GRCm38)	missense	possibly damaging	0.72
R0961:Lamc1	UTSW	1	153,221,700 (GRCm38)	missense	probably benign	0.03
R0961:Lamc1	UTSW	1	153,221,646 (GRCm38)	frame shift	probably null
R0963:Lamc1	UTSW	1	153,243,386 (GRCm38)	missense	probably benign
R1127:Lamc1	UTSW	1	153,250,459 (GRCm38)	missense	possibly damaging	0.69
R1173:Lamc1	UTSW	1	153,247,231 (GRCm38)	splice site	probably benign
R1175:Lamc1	UTSW	1	153,247,231 (GRCm38)	splice site	probably benign
R1449:Lamc1	UTSW	1	153,250,495 (GRCm38)	missense	probably benign
R1481:Lamc1	UTSW	1	153,221,634 (GRCm38)	missense	probably damaging	1.00
R1565:Lamc1	UTSW	1	153,242,743 (GRCm38)	missense	probably benign	0.34
R1583:Lamc1	UTSW	1	153,243,478 (GRCm38)	critical splice acceptor site	probably null
R1643:Lamc1	UTSW	1	153,258,072 (GRCm38)	splice site	probably benign
R1652:Lamc1	UTSW	1	153,249,646 (GRCm38)	missense	probably damaging	1.00
R1691:Lamc1	UTSW	1	153,247,249 (GRCm38)	missense	probably benign	0.04
R1854:Lamc1	UTSW	1	153,249,872 (GRCm38)	missense	probably damaging	0.99
R2018:Lamc1	UTSW	1	153,242,632 (GRCm38)	missense	probably benign	0.07
R2170:Lamc1	UTSW	1	153,249,142 (GRCm38)	missense	probably benign	0.07
R2410:Lamc1	UTSW	1	153,247,395 (GRCm38)	missense	possibly damaging	0.61
R3438:Lamc1	UTSW	1	153,226,415 (GRCm38)	missense	probably benign	0.04
R3615:Lamc1	UTSW	1	153,251,150 (GRCm38)	missense	probably damaging	1.00
R3616:Lamc1	UTSW	1	153,251,150 (GRCm38)	missense	probably damaging	1.00
R3699:Lamc1	UTSW	1	153,255,205 (GRCm38)	missense	possibly damaging	0.79
R3811:Lamc1	UTSW	1	153,262,708 (GRCm38)	splice site	probably null
R4285:Lamc1	UTSW	1	153,234,552 (GRCm38)	missense	probably damaging	0.99
R4431:Lamc1	UTSW	1	153,221,528 (GRCm38)	missense	probably damaging	1.00
R4579:Lamc1	UTSW	1	153,247,269 (GRCm38)	missense	probably damaging	1.00
R4625:Lamc1	UTSW	1	153,242,696 (GRCm38)	missense	probably benign	0.04
R4649:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4650:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4651:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4652:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4653:Lamc1	UTSW	1	153,228,777 (GRCm38)	missense	probably damaging	0.99
R4784:Lamc1	UTSW	1	153,231,740 (GRCm38)	missense	probably damaging	1.00
R4785:Lamc1	UTSW	1	153,231,740 (GRCm38)	missense	probably damaging	1.00
R4853:Lamc1	UTSW	1	153,229,100 (GRCm38)	missense	possibly damaging	0.89
R5216:Lamc1	UTSW	1	153,227,696 (GRCm38)	missense	probably damaging	1.00
R5217:Lamc1	UTSW	1	153,227,696 (GRCm38)	missense	probably damaging	1.00
R5218:Lamc1	UTSW	1	153,227,696 (GRCm38)	missense	probably damaging	1.00
R5219:Lamc1	UTSW	1	153,227,696 (GRCm38)	missense	probably damaging	1.00
R5468:Lamc1	UTSW	1	153,233,564 (GRCm38)	missense	probably damaging	0.99
R5597:Lamc1	UTSW	1	153,251,970 (GRCm38)	missense	probably damaging	1.00
R5754:Lamc1	UTSW	1	153,247,284 (GRCm38)	missense	probably benign	0.01
R6233:Lamc1	UTSW	1	153,223,666 (GRCm38)	missense	probably benign
R6431:Lamc1	UTSW	1	153,221,671 (GRCm38)	missense	probably benign	0.21
R6636:Lamc1	UTSW	1	153,241,975 (GRCm38)	missense	possibly damaging	0.93
R6888:Lamc1	UTSW	1	153,262,492 (GRCm38)	missense	probably damaging	1.00
R7161:Lamc1	UTSW	1	153,226,454 (GRCm38)	missense	probably damaging	1.00
R7240:Lamc1	UTSW	1	153,234,650 (GRCm38)	missense	possibly damaging	0.82
R7388:Lamc1	UTSW	1	153,249,076 (GRCm38)	missense	probably damaging	1.00
R7474:Lamc1	UTSW	1	153,332,265 (GRCm38)	missense	possibly damaging	0.81
R7570:Lamc1	UTSW	1	153,243,275 (GRCm38)	missense	possibly damaging	0.64
R7583:Lamc1	UTSW	1	153,243,232 (GRCm38)	missense	possibly damaging	0.71
R7597:Lamc1	UTSW	1	153,240,454 (GRCm38)	missense	possibly damaging	0.94
R7635:Lamc1	UTSW	1	153,249,060 (GRCm38)	missense	probably damaging	1.00
R7976:Lamc1	UTSW	1	153,247,268 (GRCm38)	missense	probably damaging	1.00
R8012:Lamc1	UTSW	1	153,221,612 (GRCm38)	missense	probably benign	0.04
R8207:Lamc1	UTSW	1	153,250,522 (GRCm38)	missense	probably damaging	1.00
R8219:Lamc1	UTSW	1	153,247,327 (GRCm38)	missense	probably damaging	1.00
R8227:Lamc1	UTSW	1	153,223,754 (GRCm38)	missense	probably benign	0.04
R8315:Lamc1	UTSW	1	153,243,421 (GRCm38)	missense	probably benign	0.00
R8417:Lamc1	UTSW	1	153,230,769 (GRCm38)	missense	probably damaging	1.00
R8685:Lamc1	UTSW	1	153,233,542 (GRCm38)	missense	probably benign	0.31
R8827:Lamc1	UTSW	1	153,221,678 (GRCm38)	missense	probably damaging	1.00
R8995:Lamc1	UTSW	1	153,332,247 (GRCm38)	missense	probably benign	0.00
R9061:Lamc1	UTSW	1	153,251,124 (GRCm38)	nonsense	probably null
R9141:Lamc1	UTSW	1	153,247,450 (GRCm38)	missense	probably benign	0.01
R9187:Lamc1	UTSW	1	153,221,688 (GRCm38)	nonsense	probably null
R9206:Lamc1	UTSW	1	153,250,451 (GRCm38)	missense	probably damaging	1.00
R9222:Lamc1	UTSW	1	153,243,341 (GRCm38)	missense	probably damaging	0.96
R9297:Lamc1	UTSW	1	153,252,000 (GRCm38)	missense	probably damaging	1.00
R9318:Lamc1	UTSW	1	153,252,000 (GRCm38)	missense	probably damaging	1.00
R9377:Lamc1	UTSW	1	153,239,263 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCATGAGCAGCATGGCTCTC -3'
(R):5'- CAGTGCCACAGCTTCACATAGACG -3'

Sequencing Primer
(F):5'- CATGGCTCTCGTGCTCTGG -3'
(R):5'- GCTTCACATAGACGGCATAAC -3'

Posted On

2013-11-08