Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02819:Lama4'

360906

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 #

IGL02819

Quality Score

Status

Chromosome

Chromosomal Location

38841511-38986184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38902565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 180 (I180F)

Ref Sequence

ENSEMBL: ENSMUSP00000019992 (fasta)

Gene Model

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

AlphaFold

P97927

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019992
AA Change: I180F

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: I180F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162211

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	C	T	13: 54,712,033 (GRCm39)		probably benign	Het
Abcb8	T	A	5: 24,611,422 (GRCm39)	N470K	probably benign	Het
Adamtsl3	A	T	7: 82,223,329 (GRCm39)	N1037Y	probably damaging	Het
Adcy3	T	C	12: 4,256,986 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,597,524 (GRCm39)	D983G	possibly damaging	Het
Asf1a	A	G	10: 53,483,920 (GRCm39)	T118A	probably benign	Het
Atp2a3	T	C	11: 72,868,033 (GRCm39)	Y389H	probably damaging	Het
Atp5f1b	T	C	10: 127,919,821 (GRCm39)	I63T	probably damaging	Het
C2cd5	A	G	6: 143,028,946 (GRCm39)	Y98H	probably benign	Het
Caprin2	A	G	6: 148,749,756 (GRCm39)	V518A	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Clcn2	C	A	16: 20,528,006 (GRCm39)	E487*	probably null	Het
Cog6	T	A	3: 52,916,966 (GRCm39)	K184M	probably damaging	Het
Cpn1	A	G	19: 43,956,907 (GRCm39)	Y286H	probably damaging	Het
Cpne9	A	T	6: 113,277,624 (GRCm39)	S448C	probably damaging	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Cys1	T	C	12: 24,717,169 (GRCm39)	E132G	possibly damaging	Het
Depdc7	T	C	2: 104,555,071 (GRCm39)	M280V	probably benign	Het
Fhad1	C	T	4: 141,646,069 (GRCm39)	D298N	probably benign	Het
Golga1	T	A	2: 38,929,090 (GRCm39)	N318Y	probably null	Het
Hsd3b6	A	G	3: 98,718,262 (GRCm39)	V34A	probably benign	Het
Krt9	A	G	11: 100,082,346 (GRCm39)	I193T	probably damaging	Het
Lamc1	T	C	1: 153,126,407 (GRCm39)	T458A	probably damaging	Het
Lin28b	A	T	10: 45,346,155 (GRCm39)	M1K	probably null	Het
Myo16	T	C	8: 10,372,600 (GRCm39)	C100R	probably damaging	Het
Nt5c3	A	T	6: 56,860,718 (GRCm39)	M279K	probably damaging	Het
Ppfia2	A	G	10: 106,742,255 (GRCm39)	Y1016C	probably damaging	Het
Rpl6	A	G	5: 121,345,264 (GRCm39)		probably benign	Het
Rpn2	G	T	2: 157,158,130 (GRCm39)		probably null	Het
Rspry1	T	C	8: 95,380,884 (GRCm39)	V396A	probably benign	Het
Serpina3i	C	T	12: 104,234,761 (GRCm39)	T364I	probably damaging	Het
Shprh	A	G	10: 11,030,509 (GRCm39)	K242R	possibly damaging	Het
Slit3	A	G	11: 35,062,417 (GRCm39)	N72S	possibly damaging	Het
Syt17	G	A	7: 118,009,143 (GRCm39)		probably benign	Het
Tatdn3	C	A	1: 190,787,541 (GRCm39)	A114S	probably benign	Het
Tjp2	A	G	19: 24,091,469 (GRCm39)	V564A	probably damaging	Het
Tmem117	T	C	15: 94,777,253 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 144,995,703 (GRCm39)	E452G	probably damaging	Het
Tns1	T	C	1: 73,976,407 (GRCm39)	D1147G	probably damaging	Het
Traf6	T	C	2: 101,515,134 (GRCm39)	S97P	probably damaging	Het
Ttc28	A	T	5: 111,414,449 (GRCm39)	E1321D	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
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

2015-12-18