Mutagenetix > Incidental Mutation

Incidental Mutation 'R8194:Lama4'

635355

Institutional Source

Beutler Lab

Gene Symbol

Lama4

Ensembl Gene

ENSMUSG00000019846

Gene Name

laminin, alpha 4

Synonyms

laminin [a]4

MMRRC Submission

067617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38841511-38986184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38954716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1090 (S1090G)

Ref Sequence

ENSEMBL: ENSMUSP00000019992 (fasta)

Gene Model

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

AlphaFold

P97927

Predicted Effect

probably damaging
Transcript: ENSMUST00000019992
AA Change: S1090G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: S1090G

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4a	T	A	12: 71,106,889 (GRCm39)	Y320*	probably null	Het
Ash1l	T	A	3: 88,960,062 (GRCm39)	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,713,694 (GRCm39)	C55*	probably null	Het
Cacna1s	A	T	1: 136,005,430 (GRCm39)	N405I	probably benign	Het
Capn11	A	T	17: 45,944,325 (GRCm39)	D526E	probably damaging	Het
Ccdc188	A	G	16: 18,036,244 (GRCm39)	R71G	probably benign	Het
Ccser2	G	A	14: 36,618,220 (GRCm39)	R772W	probably damaging	Het
Cenpf	T	A	1: 189,414,600 (GRCm39)	E172D	probably benign	Het
Cep85	T	C	4: 133,861,400 (GRCm39)	M627V	probably null	Het
Chd1	G	A	17: 17,594,737 (GRCm39)		probably benign	Het
Cnst	A	G	1: 179,437,759 (GRCm39)	H441R	probably benign	Het
Cyp2d11	G	T	15: 82,274,638 (GRCm39)	T313N	probably damaging	Het
Cyp2g1	A	G	7: 26,514,159 (GRCm39)	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,414 (GRCm39)	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,217,364 (GRCm39)		probably null	Het
Malrd1	A	G	2: 15,929,931 (GRCm39)	D1479G	unknown	Het
Man2a2	T	C	7: 80,010,766 (GRCm39)	K742E	probably benign	Het
Mapk8	A	T	14: 33,104,241 (GRCm39)	S392T	probably benign	Het
Mark3	T	C	12: 111,559,117 (GRCm39)	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,986,867 (GRCm39)	I219V	probably benign	Het
Mlycd	A	T	8: 120,134,332 (GRCm39)	E278V	probably benign	Het
Muc2	G	T	7: 141,290,801 (GRCm39)	C29F		Het
Mup20	T	C	4: 61,971,721 (GRCm39)	I77V	probably benign	Het
Myh3	A	G	11: 66,982,828 (GRCm39)	E849G	probably damaging	Het
Nedd4	A	G	9: 72,593,389 (GRCm39)	N154S	probably damaging	Het
Odad4	G	A	11: 100,454,502 (GRCm39)	G429E	probably benign	Het
Or1e1f	A	T	11: 73,856,240 (GRCm39)	I269F	probably benign	Het
Pcdh7	A	T	5: 57,877,678 (GRCm39)	N411I	probably damaging	Het
Plekhm1	A	G	11: 103,285,886 (GRCm39)	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,569,710 (GRCm39)	V19M	probably damaging	Het
Prss35	T	G	9: 86,637,666 (GRCm39)	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,291,747 (GRCm39)	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,575,651 (GRCm39)	V315F	probably damaging	Het
Slc32a1	T	C	2: 158,455,761 (GRCm39)	Y139H	probably damaging	Het
Slc5a2	T	C	7: 127,870,328 (GRCm39)	V522A	probably benign	Het
Slc6a6	A	T	6: 91,717,952 (GRCm39)	Q297L	probably damaging	Het
Sos2	A	C	12: 69,645,598 (GRCm39)	Y914D	probably damaging	Het
Spata1	G	T	3: 146,195,614 (GRCm39)	T32N	possibly damaging	Het
Srcap	C	T	7: 127,138,369 (GRCm39)	R1180C	probably damaging	Het
St14	A	T	9: 31,042,921 (GRCm39)	M1K	probably null	Het
Tcaf1	T	C	6: 42,652,236 (GRCm39)	T749A	probably benign	Het
Tcp1	T	C	17: 13,141,621 (GRCm39)		probably null	Het
Tle6	A	G	10: 81,426,888 (GRCm39)	V576A	probably damaging	Het
Usp17lc	T	A	7: 103,067,407 (GRCm39)	M234K	probably benign	Het
Washc4	A	G	10: 83,416,163 (GRCm39)	I818V	possibly damaging	Het
Zdhhc18	A	G	4: 133,341,165 (GRCm39)	L236P	probably damaging	Het
Zfp266	T	C	9: 20,411,610 (GRCm39)	D189G	probably benign	Het
Zfp474	A	T	18: 52,772,229 (GRCm39)	D294V	probably damaging	Het
Zfp568	T	C	7: 29,722,758 (GRCm39)	F568L	probably damaging	Het
Zfp93	A	G	7: 23,975,479 (GRCm39)	K488R	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
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
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'- CCATACAGTGGTTTGTAGGGTAAC -3'
(R):5'- ATTGCATTTGGTCACCAGGTC -3'

Sequencing Primer
(F):5'- CCTCCTGAGTGCTGAGATTAAAG -3'
(R):5'- GCATTTGGTCACCAGGTCATATAC -3'

Posted On

2020-07-13