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

38965515-39110188 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 39094884 bp (GRCm38)

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
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Lama4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Lama4	APN	10	39065595	splice site	probably benign
IGL00091:Lama4	APN	10	39072805	missense	probably damaging	1.00
IGL00429:Lama4	APN	10	39011026	missense	possibly damaging	0.58
IGL00430:Lama4	APN	10	39045704	missense	possibly damaging	0.54
IGL01074:Lama4	APN	10	39098488	critical splice donor site	probably null
IGL01386:Lama4	APN	10	39011064	missense	probably benign	0.00
IGL01603:Lama4	APN	10	39065646	missense	possibly damaging	0.92
IGL01643:Lama4	APN	10	39056850	missense	probably benign
IGL01655:Lama4	APN	10	39060213	missense	probably benign
IGL01954:Lama4	APN	10	39087299	missense	probably benign	0.05
IGL01984:Lama4	APN	10	39075529	critical splice donor site	probably null
IGL02193:Lama4	APN	10	39042674	missense	probably benign
IGL02290:Lama4	APN	10	39017364	missense	probably benign	0.00
IGL02441:Lama4	APN	10	39061445	missense	probably benign	0.20
IGL02549:Lama4	APN	10	39060204	missense	probably benign	0.00
IGL02797:Lama4	APN	10	39056924	missense	probably null	0.00
IGL02819:Lama4	APN	10	39026569	missense	possibly damaging	0.80
IGL03122:Lama4	APN	10	39067963	missense	probably benign
IGL03184:Lama4	APN	10	39078843	missense	probably damaging	1.00
IGL03307:Lama4	APN	10	39017383	missense	probably benign
BB006:Lama4	UTSW	10	39078847	missense	probably damaging	1.00
BB016:Lama4	UTSW	10	39078847	missense	probably damaging	1.00
PIT4585001:Lama4	UTSW	10	39074746	missense	probably damaging	1.00
R0003:Lama4	UTSW	10	39060222	missense	possibly damaging	0.55
R0015:Lama4	UTSW	10	39075436	missense	possibly damaging	0.87
R0015:Lama4	UTSW	10	39075436	missense	possibly damaging	0.87
R0035:Lama4	UTSW	10	39072738	missense	probably benign	0.01
R0141:Lama4	UTSW	10	39092278	missense	probably benign	0.05
R0267:Lama4	UTSW	10	39028639	missense	probably damaging	0.96
R0557:Lama4	UTSW	10	39088397	missense	probably benign	0.38
R1052:Lama4	UTSW	10	39092245	missense	possibly damaging	0.68
R1248:Lama4	UTSW	10	39056847	missense	probably damaging	0.99
R1249:Lama4	UTSW	10	39075478	missense	probably damaging	1.00
R1291:Lama4	UTSW	10	39048069	missense	probably benign	0.00
R1307:Lama4	UTSW	10	39070032	missense	probably benign	0.06
R1404:Lama4	UTSW	10	39061391	missense	probably benign	0.09
R1404:Lama4	UTSW	10	39061391	missense	probably benign	0.09
R1443:Lama4	UTSW	10	39073643	missense	probably damaging	1.00
R1499:Lama4	UTSW	10	39088880	missense	possibly damaging	0.92
R1616:Lama4	UTSW	10	39075450	missense	probably damaging	1.00
R1691:Lama4	UTSW	10	39080563	missense	probably benign	0.09
R1748:Lama4	UTSW	10	39065619	missense	probably benign	0.01
R1768:Lama4	UTSW	10	39103501	missense	possibly damaging	0.82
R1772:Lama4	UTSW	10	39060224	missense	probably benign	0.00
R1813:Lama4	UTSW	10	39033125	splice site	probably benign
R1813:Lama4	UTSW	10	39060186	missense	probably damaging	1.00
R1897:Lama4	UTSW	10	39060186	missense	probably damaging	1.00
R1907:Lama4	UTSW	10	39072758	missense	probably benign	0.13
R1943:Lama4	UTSW	10	39097138	missense	possibly damaging	0.85
R2041:Lama4	UTSW	10	39069991	missense	probably damaging	1.00
R2242:Lama4	UTSW	10	39026693	missense	probably damaging	1.00
R2300:Lama4	UTSW	10	39087320	missense	probably benign
R2326:Lama4	UTSW	10	39042567	splice site	probably null
R2570:Lama4	UTSW	10	39075358	missense	possibly damaging	0.94
R2570:Lama4	UTSW	10	39106047	missense	probably damaging	1.00
R2571:Lama4	UTSW	10	39042675	missense	possibly damaging	0.55
R2887:Lama4	UTSW	10	39092254	missense	possibly damaging	0.94
R2926:Lama4	UTSW	10	39078832	missense	probably benign	0.16
R3237:Lama4	UTSW	10	39097179	missense	probably damaging	0.97
R4095:Lama4	UTSW	10	39097122	missense	probably damaging	1.00
R4151:Lama4	UTSW	10	39005428	missense	probably benign	0.00
R4470:Lama4	UTSW	10	39080496	nonsense	probably null
R4812:Lama4	UTSW	10	39072769	missense	probably benign
R4822:Lama4	UTSW	10	39033053	missense	probably benign	0.01
R4997:Lama4	UTSW	10	39092266	missense	probably damaging	0.99
R5119:Lama4	UTSW	10	39048054	missense	probably benign	0.00
R5468:Lama4	UTSW	10	39072682	splice site	probably null
R5909:Lama4	UTSW	10	39072859	missense	probably benign	0.00
R5917:Lama4	UTSW	10	39048032	missense	probably benign	0.10
R5927:Lama4	UTSW	10	39072812	missense	probably damaging	1.00
R5950:Lama4	UTSW	10	39030448	missense	probably benign	0.03
R6051:Lama4	UTSW	10	39067902	missense	probably benign	0.01
R6277:Lama4	UTSW	10	39106010	missense	probably damaging	1.00
R6294:Lama4	UTSW	10	39075470	missense	probably damaging	1.00
R6372:Lama4	UTSW	10	39067952	missense	probably benign
R6532:Lama4	UTSW	10	39048077	missense	possibly damaging	0.58
R6547:Lama4	UTSW	10	39073656	missense	probably damaging	1.00
R6578:Lama4	UTSW	10	39017365	missense	probably benign	0.01
R6737:Lama4	UTSW	10	39094911	missense	probably damaging	0.96
R6987:Lama4	UTSW	10	39074279	missense	probably benign	0.00
R7040:Lama4	UTSW	10	39060162	missense	possibly damaging	0.69
R7139:Lama4	UTSW	10	39075495	missense	probably damaging	1.00
R7188:Lama4	UTSW	10	38965733	start gained	probably benign
R7189:Lama4	UTSW	10	38965733	start gained	probably benign
R7199:Lama4	UTSW	10	39080540	missense	possibly damaging	0.84
R7211:Lama4	UTSW	10	39005495	missense	probably damaging	0.98
R7262:Lama4	UTSW	10	39094934	missense	probably damaging	1.00
R7274:Lama4	UTSW	10	39092299	missense	probably benign	0.00
R7311:Lama4	UTSW	10	39026635	missense	probably damaging	1.00
R7391:Lama4	UTSW	10	39087387	critical splice donor site	probably null
R7399:Lama4	UTSW	10	39047948	missense	probably damaging	0.98
R7426:Lama4	UTSW	10	39045755	missense	possibly damaging	0.82
R7472:Lama4	UTSW	10	39087373	missense	possibly damaging	0.65
R7635:Lama4	UTSW	10	39092188	missense	probably benign
R7775:Lama4	UTSW	10	39078847	missense	probably damaging	1.00
R7805:Lama4	UTSW	10	39026751	critical splice donor site	probably null
R7885:Lama4	UTSW	10	39088844	missense	probably benign	0.01
R7895:Lama4	UTSW	10	39088329	missense	probably damaging	0.96
R7910:Lama4	UTSW	10	39070009	missense	probably damaging	0.99
R7929:Lama4	UTSW	10	39078847	missense	probably damaging	1.00
R7952:Lama4	UTSW	10	39030490	missense	probably benign	0.39
R7991:Lama4	UTSW	10	39045809	missense	possibly damaging	0.70
R8059:Lama4	UTSW	10	38966061	missense	probably benign	0.00
R8194:Lama4	UTSW	10	39078720	missense	probably damaging	0.99
R8248:Lama4	UTSW	10	39061379	missense	possibly damaging	0.82
R8252:Lama4	UTSW	10	39060146	missense	probably benign	0.00
R8265:Lama4	UTSW	10	39105204	missense	probably damaging	1.00
R8275:Lama4	UTSW	10	39072811	missense	probably damaging	1.00
R8426:Lama4	UTSW	10	39103491	missense	probably damaging	0.98
R8434:Lama4	UTSW	10	39026707	missense	possibly damaging	0.92
R8720:Lama4	UTSW	10	39095083	missense	probably damaging	0.97
R8792:Lama4	UTSW	10	39048052	missense	probably benign	0.00
R8836:Lama4	UTSW	10	39026591	missense	probably damaging	1.00
R8867:Lama4	UTSW	10	39048000	missense	probably damaging	1.00
R8892:Lama4	UTSW	10	39097198	missense	probably damaging	1.00
R8913:Lama4	UTSW	10	39106043	missense	probably benign	0.10
R9129:Lama4	UTSW	10	39056891	missense	probably benign
R9177:Lama4	UTSW	10	39074692	missense	probably damaging	0.98
R9187:Lama4	UTSW	10	39048128	critical splice donor site	probably null
R9193:Lama4	UTSW	10	39075448	missense	probably benign	0.03
R9268:Lama4	UTSW	10	39074692	missense	probably damaging	0.98
R9287:Lama4	UTSW	10	39105964	missense	probably damaging	1.00
R9295:Lama4	UTSW	10	39072751	missense	probably damaging	1.00
R9303:Lama4	UTSW	10	39097141	missense	probably damaging	0.99
R9330:Lama4	UTSW	10	39078726	missense	probably damaging	0.99
R9430:Lama4	UTSW	10	39045806	missense	probably null
R9572:Lama4	UTSW	10	39083275	missense	probably damaging	1.00
R9636:Lama4	UTSW	10	39080504	missense	possibly damaging	0.67
R9663:Lama4	UTSW	10	39047948	missense	probably damaging	0.98
R9777:Lama4	UTSW	10	39048105	missense	probably benign	0.00
X0067:Lama4	UTSW	10	39045692	missense	probably benign	0.00
Z1177:Lama4	UTSW	10	39005424	nonsense	probably null
Z1177:Lama4	UTSW	10	39005425	missense	probably damaging	1.00

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