Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00091:Lama4'

1256

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lama4

Ensembl Gene

ENSMUSG00000019846

Gene Name

laminin, alpha 4

Synonyms

laminin [a]4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00091

Quality Score

Status

Chromosome

Chromosomal Location

38841511-38986184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38948801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 855 (S855R)

Ref Sequence

ENSEMBL: ENSMUSP00000019992 (fasta)

Gene Model

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

AlphaFold

P97927

Predicted Effect

probably damaging
Transcript: ENSMUST00000019992
AA Change: S855R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: S855R

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,485,157 (GRCm39)	Y400F	probably benign	Het
Adamts8	C	A	9: 30,864,796 (GRCm39)	T429K	probably damaging	Het
Adgrv1	C	T	13: 81,726,220 (GRCm39)	D602N	probably damaging	Het
Ano7	A	T	1: 93,329,888 (GRCm39)	H775L	probably benign	Het
Apoo-ps	A	T	13: 107,551,134 (GRCm39)		noncoding transcript	Het
Arid2	T	C	15: 96,270,183 (GRCm39)	V1432A	probably benign	Het
Atoh1	T	C	6: 64,706,568 (GRCm39)	S88P	possibly damaging	Het
C130050O18Rik	A	G	5: 139,400,601 (GRCm39)	E218G	probably damaging	Het
Cacna2d1	T	A	5: 16,417,942 (GRCm39)	F155L	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cyp1a2	G	T	9: 57,589,352 (GRCm39)	S154*	probably null	Het
Cyp3a25	A	T	5: 145,938,273 (GRCm39)	Y68*	probably null	Het
Dmbt1	C	A	7: 130,681,270 (GRCm39)		probably benign	Het
Dnajc22	T	A	15: 98,999,059 (GRCm39)	F81L	possibly damaging	Het
Eml5	G	A	12: 98,839,468 (GRCm39)		probably benign	Het
Fpgs	A	T	2: 32,576,559 (GRCm39)		probably benign	Het
Gab2	T	C	7: 96,951,650 (GRCm39)	S537P	possibly damaging	Het
Gmds	G	A	13: 32,418,373 (GRCm39)	S37L	probably damaging	Het
Ipo13	T	C	4: 117,760,602 (GRCm39)	E626G	probably benign	Het
Kcng1	T	C	2: 168,110,684 (GRCm39)	H160R	probably benign	Het
Lama3	A	G	18: 12,713,349 (GRCm39)	T1608A	probably benign	Het
Ltbp1	C	T	17: 75,532,333 (GRCm39)	H454Y	probably damaging	Het
Map3k14	C	A	11: 103,118,405 (GRCm39)	G594C	probably damaging	Het
Mcph1	A	G	8: 18,682,636 (GRCm39)	N591S	possibly damaging	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Mptx2	T	G	1: 173,102,455 (GRCm39)	N78T	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Nup50	T	A	15: 84,819,605 (GRCm39)	F293Y	probably benign	Het
Ogn	A	G	13: 49,774,514 (GRCm39)	Y219C	probably damaging	Het
Pdia3	T	C	2: 121,244,659 (GRCm39)	L47P	probably damaging	Het
Piwil4	A	T	9: 14,614,393 (GRCm39)	D786E	probably damaging	Het
Pspc1	A	G	14: 57,009,168 (GRCm39)	L222P	probably damaging	Het
Ptchd3	T	A	11: 121,721,972 (GRCm39)	Y282N	probably damaging	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Serpini2	T	C	3: 75,156,549 (GRCm39)	Y327C	probably damaging	Het
Spire2	A	G	8: 124,080,798 (GRCm39)	D14G	probably damaging	Het
Stab2	A	T	10: 86,705,070 (GRCm39)		probably null	Het
Timeless	T	C	10: 128,077,577 (GRCm39)	L219P	probably damaging	Het
Tmem63a	C	T	1: 180,790,653 (GRCm39)	T437M	probably damaging	Het
Tslp	A	G	18: 32,948,448 (GRCm39)		probably benign	Het
Ttbk2	C	A	2: 120,579,314 (GRCm39)	G534*	probably null	Het
Uggt1	T	C	1: 36,218,633 (GRCm39)		probably benign	Het
Vmn2r118	T	C	17: 55,899,708 (GRCm39)	E732G	probably damaging	Het
Zfhx2	G	A	14: 55,304,022 (GRCm39)	P1321S	possibly damaging	Het
Zfp58	A	G	13: 67,639,114 (GRCm39)	V459A	probably benign	Het
Zfp831	T	C	2: 174,487,451 (GRCm39)	S709P	possibly damaging	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
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
R0257:Lama4	UTSW	10	38,970,880 (GRCm39)	splice site	probably benign
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

Posted On

2011-07-12