Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Lama4'

177941

Institutional Source

Beutler Lab

Gene Symbol

Lama4

Ensembl Gene

ENSMUSG00000019846

Gene Name

laminin, alpha 4

Synonyms

laminin [a]4

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0257 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38841511-38986184 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 38970880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019992]

AlphaFold

P97927

Predicted Effect

probably benign
Transcript: ENSMUST00000019992

SMART Domains

Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
EGF_Lam	82	129	1.95e-8	SMART
EGF_Lam	132	184	5.78e-11	SMART
EGF_Lam	187	238	9.83e-14	SMART
Pfam:Laminin_I	283	548	5.3e-71	PFAM
coiled coil region	658	685	N/A	INTRINSIC
LamG	850	1009	9.54e-11	SMART
LamG	1066	1205	5.9e-25	SMART
LamG	1250	1374	6.68e-24	SMART
LamG	1484	1619	1.54e-37	SMART
LamG	1661	1794	3.63e-34	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form 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 alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired motor control of the hind limbs associated with improperly positioned synaptic active zones and junctional folds, and prenatal and neonatal hemorrhages associated with capillary defects. [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
Aatf	T	A	11: 84,401,107 (GRCm39)	E171D	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgre5	T	A	8: 84,458,624 (GRCm39)	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,717,790 (GRCm39)	M256L	probably benign	Het
Alk	A	T	17: 72,910,490 (GRCm39)	L72Q	probably damaging	Het
Ano2	C	A	6: 125,857,676 (GRCm39)	A505E	probably benign	Het
Bcas3	A	G	11: 85,712,865 (GRCm39)	K908E	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Car2	C	G	3: 14,965,037 (GRCm39)	H224D	probably benign	Het
Cfh	T	C	1: 140,071,773 (GRCm39)	D287G	probably benign	Het
Disp3	G	T	4: 148,335,211 (GRCm39)	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,661,671 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,708,123 (GRCm39)	E1281G	probably damaging	Het
Dmxl1	T	A	18: 50,088,870 (GRCm39)		probably benign	Het
Dtx3	T	C	10: 127,028,761 (GRCm39)	D159G	probably benign	Het
Ets2	T	A	16: 95,513,245 (GRCm39)	C140*	probably null	Het
Fbf1	T	C	11: 116,045,917 (GRCm39)	I226V	probably benign	Het
Fgd6	T	A	10: 93,879,777 (GRCm39)	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898 (GRCm39)	T179A	probably benign	Het
Galnt10	T	C	11: 57,671,904 (GRCm39)	M398T	probably damaging	Het
Grk5	G	T	19: 61,065,068 (GRCm39)		probably benign	Het
Gse1	A	G	8: 121,299,073 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,259,176 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,861,052 (GRCm39)		probably null	Het
Luzp2	A	G	7: 54,899,194 (GRCm39)	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534 (GRCm39)	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,705,649 (GRCm39)		probably benign	Het
Msh5	G	C	17: 35,251,840 (GRCm39)	R407G	probably damaging	Het
Myo1c	A	T	11: 75,556,342 (GRCm39)		probably null	Het
Nek5	T	C	8: 22,613,688 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,728 (GRCm39)	I894V	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Pde4a	C	T	9: 21,103,717 (GRCm39)	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,150,930 (GRCm39)	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,660,080 (GRCm39)	S139N	probably benign	Het
Prob1	T	C	18: 35,786,092 (GRCm39)	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,495,382 (GRCm39)	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,589,842 (GRCm39)	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,664 (GRCm39)	M199L	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,682,761 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,192,819 (GRCm39)	S369C	possibly damaging	Het
St18	T	A	1: 6,890,186 (GRCm39)	F539L	probably benign	Het
Stam2	C	T	2: 52,584,794 (GRCm39)	G500D	possibly damaging	Het
Stx16	G	A	2: 173,938,754 (GRCm39)	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610 (GRCm39)	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,765,904 (GRCm39)	S512N	probably benign	Het
Tiam2	T	C	17: 3,501,088 (GRCm39)	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343 (GRCm39)	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,778,556 (GRCm39)	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,741,045 (GRCm39)	S1264L	probably benign	Het
Ttn	T	A	2: 76,640,775 (GRCm39)	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,249,889 (GRCm39)	T794I	probably damaging	Het
Vmn2r52	T	A	7: 9,904,982 (GRCm39)	R286*	probably null	Het
Vps53	A	T	11: 76,068,211 (GRCm39)		probably benign	Het
Wdr18	A	G	10: 79,796,953 (GRCm39)		probably benign	Het
Wdr31	A	G	4: 62,378,755 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,407,706 (GRCm39)	K47*	probably null	Het
Zfp983	A	G	17: 21,880,356 (GRCm39)	T95A	probably benign	Het

Other mutations in Lama4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Lama4	APN	10	38,941,591 (GRCm39)	splice site	probably benign
IGL00091:Lama4	APN	10	38,948,801 (GRCm39)	missense	probably damaging	1.00
IGL00429:Lama4	APN	10	38,887,022 (GRCm39)	missense	possibly damaging	0.58
IGL00430:Lama4	APN	10	38,921,700 (GRCm39)	missense	possibly damaging	0.54
IGL01074:Lama4	APN	10	38,974,484 (GRCm39)	critical splice donor site	probably null
IGL01386:Lama4	APN	10	38,887,060 (GRCm39)	missense	probably benign	0.00
IGL01603:Lama4	APN	10	38,941,642 (GRCm39)	missense	possibly damaging	0.92
IGL01643:Lama4	APN	10	38,932,846 (GRCm39)	missense	probably benign
IGL01655:Lama4	APN	10	38,936,209 (GRCm39)	missense	probably benign
IGL01954:Lama4	APN	10	38,963,295 (GRCm39)	missense	probably benign	0.05
IGL01984:Lama4	APN	10	38,951,525 (GRCm39)	critical splice donor site	probably null
IGL02193:Lama4	APN	10	38,918,670 (GRCm39)	missense	probably benign
IGL02290:Lama4	APN	10	38,893,360 (GRCm39)	missense	probably benign	0.00
IGL02441:Lama4	APN	10	38,937,441 (GRCm39)	missense	probably benign	0.20
IGL02549:Lama4	APN	10	38,936,200 (GRCm39)	missense	probably benign	0.00
IGL02797:Lama4	APN	10	38,932,920 (GRCm39)	missense	probably null	0.00
IGL02819:Lama4	APN	10	38,902,565 (GRCm39)	missense	possibly damaging	0.80
IGL03122:Lama4	APN	10	38,943,959 (GRCm39)	missense	probably benign
IGL03184:Lama4	APN	10	38,954,839 (GRCm39)	missense	probably damaging	1.00
IGL03307:Lama4	APN	10	38,893,379 (GRCm39)	missense	probably benign
BB006:Lama4	UTSW	10	38,954,843 (GRCm39)	missense	probably damaging	1.00
BB016:Lama4	UTSW	10	38,954,843 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Lama4	UTSW	10	38,950,742 (GRCm39)	missense	probably damaging	1.00
R0003:Lama4	UTSW	10	38,936,218 (GRCm39)	missense	possibly damaging	0.55
R0015:Lama4	UTSW	10	38,951,432 (GRCm39)	missense	possibly damaging	0.87
R0015:Lama4	UTSW	10	38,951,432 (GRCm39)	missense	possibly damaging	0.87
R0035:Lama4	UTSW	10	38,948,734 (GRCm39)	missense	probably benign	0.01
R0141:Lama4	UTSW	10	38,968,274 (GRCm39)	missense	probably benign	0.05
R0267:Lama4	UTSW	10	38,904,635 (GRCm39)	missense	probably damaging	0.96
R0557:Lama4	UTSW	10	38,964,393 (GRCm39)	missense	probably benign	0.38
R1052:Lama4	UTSW	10	38,968,241 (GRCm39)	missense	possibly damaging	0.68
R1248:Lama4	UTSW	10	38,932,843 (GRCm39)	missense	probably damaging	0.99
R1249:Lama4	UTSW	10	38,951,474 (GRCm39)	missense	probably damaging	1.00
R1291:Lama4	UTSW	10	38,924,065 (GRCm39)	missense	probably benign	0.00
R1307:Lama4	UTSW	10	38,946,028 (GRCm39)	missense	probably benign	0.06
R1404:Lama4	UTSW	10	38,937,387 (GRCm39)	missense	probably benign	0.09
R1404:Lama4	UTSW	10	38,937,387 (GRCm39)	missense	probably benign	0.09
R1443:Lama4	UTSW	10	38,949,639 (GRCm39)	missense	probably damaging	1.00
R1499:Lama4	UTSW	10	38,964,876 (GRCm39)	missense	possibly damaging	0.92
R1616:Lama4	UTSW	10	38,951,446 (GRCm39)	missense	probably damaging	1.00
R1691:Lama4	UTSW	10	38,956,559 (GRCm39)	missense	probably benign	0.09
R1748:Lama4	UTSW	10	38,941,615 (GRCm39)	missense	probably benign	0.01
R1768:Lama4	UTSW	10	38,979,497 (GRCm39)	missense	possibly damaging	0.82
R1772:Lama4	UTSW	10	38,936,220 (GRCm39)	missense	probably benign	0.00
R1813:Lama4	UTSW	10	38,936,182 (GRCm39)	missense	probably damaging	1.00
R1813:Lama4	UTSW	10	38,909,121 (GRCm39)	splice site	probably benign
R1897:Lama4	UTSW	10	38,936,182 (GRCm39)	missense	probably damaging	1.00
R1907:Lama4	UTSW	10	38,948,754 (GRCm39)	missense	probably benign	0.13
R1943:Lama4	UTSW	10	38,973,134 (GRCm39)	missense	possibly damaging	0.85
R2041:Lama4	UTSW	10	38,945,987 (GRCm39)	missense	probably damaging	1.00
R2242:Lama4	UTSW	10	38,902,689 (GRCm39)	missense	probably damaging	1.00
R2300:Lama4	UTSW	10	38,963,316 (GRCm39)	missense	probably benign
R2326:Lama4	UTSW	10	38,918,563 (GRCm39)	splice site	probably null
R2570:Lama4	UTSW	10	38,982,043 (GRCm39)	missense	probably damaging	1.00
R2570:Lama4	UTSW	10	38,951,354 (GRCm39)	missense	possibly damaging	0.94
R2571:Lama4	UTSW	10	38,918,671 (GRCm39)	missense	possibly damaging	0.55
R2887:Lama4	UTSW	10	38,968,250 (GRCm39)	missense	possibly damaging	0.94
R2926:Lama4	UTSW	10	38,954,828 (GRCm39)	missense	probably benign	0.16
R3237:Lama4	UTSW	10	38,973,175 (GRCm39)	missense	probably damaging	0.97
R4095:Lama4	UTSW	10	38,973,118 (GRCm39)	missense	probably damaging	1.00
R4151:Lama4	UTSW	10	38,881,424 (GRCm39)	missense	probably benign	0.00
R4470:Lama4	UTSW	10	38,956,492 (GRCm39)	nonsense	probably null
R4812:Lama4	UTSW	10	38,948,765 (GRCm39)	missense	probably benign
R4822:Lama4	UTSW	10	38,909,049 (GRCm39)	missense	probably benign	0.01
R4997:Lama4	UTSW	10	38,968,262 (GRCm39)	missense	probably damaging	0.99
R5119:Lama4	UTSW	10	38,924,050 (GRCm39)	missense	probably benign	0.00
R5468:Lama4	UTSW	10	38,948,678 (GRCm39)	splice site	probably null
R5909:Lama4	UTSW	10	38,948,855 (GRCm39)	missense	probably benign	0.00
R5917:Lama4	UTSW	10	38,924,028 (GRCm39)	missense	probably benign	0.10
R5927:Lama4	UTSW	10	38,948,808 (GRCm39)	missense	probably damaging	1.00
R5950:Lama4	UTSW	10	38,906,444 (GRCm39)	missense	probably benign	0.03
R6051:Lama4	UTSW	10	38,943,898 (GRCm39)	missense	probably benign	0.01
R6277:Lama4	UTSW	10	38,982,006 (GRCm39)	missense	probably damaging	1.00
R6294:Lama4	UTSW	10	38,951,466 (GRCm39)	missense	probably damaging	1.00
R6372:Lama4	UTSW	10	38,943,948 (GRCm39)	missense	probably benign
R6532:Lama4	UTSW	10	38,924,073 (GRCm39)	missense	possibly damaging	0.58
R6547:Lama4	UTSW	10	38,949,652 (GRCm39)	missense	probably damaging	1.00
R6578:Lama4	UTSW	10	38,893,361 (GRCm39)	missense	probably benign	0.01
R6737:Lama4	UTSW	10	38,970,907 (GRCm39)	missense	probably damaging	0.96
R6987:Lama4	UTSW	10	38,950,275 (GRCm39)	missense	probably benign	0.00
R7040:Lama4	UTSW	10	38,936,158 (GRCm39)	missense	possibly damaging	0.69
R7139:Lama4	UTSW	10	38,951,491 (GRCm39)	missense	probably damaging	1.00
R7188:Lama4	UTSW	10	38,841,729 (GRCm39)	start gained	probably benign
R7189:Lama4	UTSW	10	38,841,729 (GRCm39)	start gained	probably benign
R7199:Lama4	UTSW	10	38,956,536 (GRCm39)	missense	possibly damaging	0.84
R7211:Lama4	UTSW	10	38,881,491 (GRCm39)	missense	probably damaging	0.98
R7262:Lama4	UTSW	10	38,970,930 (GRCm39)	missense	probably damaging	1.00
R7274:Lama4	UTSW	10	38,968,295 (GRCm39)	missense	probably benign	0.00
R7311:Lama4	UTSW	10	38,902,631 (GRCm39)	missense	probably damaging	1.00
R7391:Lama4	UTSW	10	38,963,383 (GRCm39)	critical splice donor site	probably null
R7399:Lama4	UTSW	10	38,923,944 (GRCm39)	missense	probably damaging	0.98
R7426:Lama4	UTSW	10	38,921,751 (GRCm39)	missense	possibly damaging	0.82
R7472:Lama4	UTSW	10	38,963,369 (GRCm39)	missense	possibly damaging	0.65
R7635:Lama4	UTSW	10	38,968,184 (GRCm39)	missense	probably benign
R7775:Lama4	UTSW	10	38,954,843 (GRCm39)	missense	probably damaging	1.00
R7805:Lama4	UTSW	10	38,902,747 (GRCm39)	critical splice donor site	probably null
R7885:Lama4	UTSW	10	38,964,840 (GRCm39)	missense	probably benign	0.01
R7895:Lama4	UTSW	10	38,964,325 (GRCm39)	missense	probably damaging	0.96
R7910:Lama4	UTSW	10	38,946,005 (GRCm39)	missense	probably damaging	0.99
R7929:Lama4	UTSW	10	38,954,843 (GRCm39)	missense	probably damaging	1.00
R7952:Lama4	UTSW	10	38,906,486 (GRCm39)	missense	probably benign	0.39
R7991:Lama4	UTSW	10	38,921,805 (GRCm39)	missense	possibly damaging	0.70
R8059:Lama4	UTSW	10	38,842,057 (GRCm39)	missense	probably benign	0.00
R8194:Lama4	UTSW	10	38,954,716 (GRCm39)	missense	probably damaging	0.99
R8248:Lama4	UTSW	10	38,937,375 (GRCm39)	missense	possibly damaging	0.82
R8252:Lama4	UTSW	10	38,936,142 (GRCm39)	missense	probably benign	0.00
R8265:Lama4	UTSW	10	38,981,200 (GRCm39)	missense	probably damaging	1.00
R8275:Lama4	UTSW	10	38,948,807 (GRCm39)	missense	probably damaging	1.00
R8426:Lama4	UTSW	10	38,979,487 (GRCm39)	missense	probably damaging	0.98
R8434:Lama4	UTSW	10	38,902,703 (GRCm39)	missense	possibly damaging	0.92
R8720:Lama4	UTSW	10	38,971,079 (GRCm39)	missense	probably damaging	0.97
R8792:Lama4	UTSW	10	38,924,048 (GRCm39)	missense	probably benign	0.00
R8836:Lama4	UTSW	10	38,902,587 (GRCm39)	missense	probably damaging	1.00
R8867:Lama4	UTSW	10	38,923,996 (GRCm39)	missense	probably damaging	1.00
R8892:Lama4	UTSW	10	38,973,194 (GRCm39)	missense	probably damaging	1.00
R8913:Lama4	UTSW	10	38,982,039 (GRCm39)	missense	probably benign	0.10
R9129:Lama4	UTSW	10	38,932,887 (GRCm39)	missense	probably benign
R9177:Lama4	UTSW	10	38,950,688 (GRCm39)	missense	probably damaging	0.98
R9187:Lama4	UTSW	10	38,924,124 (GRCm39)	critical splice donor site	probably null
R9193:Lama4	UTSW	10	38,951,444 (GRCm39)	missense	probably benign	0.03
R9268:Lama4	UTSW	10	38,950,688 (GRCm39)	missense	probably damaging	0.98
R9287:Lama4	UTSW	10	38,981,960 (GRCm39)	missense	probably damaging	1.00
R9295:Lama4	UTSW	10	38,948,747 (GRCm39)	missense	probably damaging	1.00
R9303:Lama4	UTSW	10	38,973,137 (GRCm39)	missense	probably damaging	0.99
R9330:Lama4	UTSW	10	38,954,722 (GRCm39)	missense	probably damaging	0.99
R9430:Lama4	UTSW	10	38,921,802 (GRCm39)	missense	probably null
R9572:Lama4	UTSW	10	38,959,271 (GRCm39)	missense	probably damaging	1.00
R9636:Lama4	UTSW	10	38,956,500 (GRCm39)	missense	possibly damaging	0.67
R9663:Lama4	UTSW	10	38,923,944 (GRCm39)	missense	probably damaging	0.98
R9777:Lama4	UTSW	10	38,924,101 (GRCm39)	missense	probably benign	0.00
X0067:Lama4	UTSW	10	38,921,688 (GRCm39)	missense	probably benign	0.00
Z1177:Lama4	UTSW	10	38,881,421 (GRCm39)	missense	probably damaging	1.00
Z1177:Lama4	UTSW	10	38,881,420 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCATGGGAAGTAACCATGCCTACGTAA -3'
(R):5'- GCTGACAGCACTATTCTCTGCATTCAA -3'

Sequencing Primer
(F):5'- ATAACTAATTAAGGCATCACTGGGG -3'
(R):5'- TGCATTCAACTTACATCATGCCAC -3'

Posted On

2014-05-06