Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Lama4'

459960

Institutional Source

Beutler Lab

Gene Symbol

Lama4

Ensembl Gene

ENSMUSG00000019846

Gene Name

laminin, alpha 4

Synonyms

laminin [a]4

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38841511-38986184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38948808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 857 (Y857C)

Ref Sequence

ENSEMBL: ENSMUSP00000019992 (fasta)

Gene Model

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

AlphaFold

P97927

Predicted Effect

probably damaging
Transcript: ENSMUST00000019992
AA Change: Y857C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: Y857C

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

0.4227

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,644,745 (GRCm39)	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,484,597 (GRCm39)		probably null	Het
Arhgdib	A	T	6: 136,901,136 (GRCm39)	W198R	probably damaging	Het
Atad5	T	A	11: 80,018,111 (GRCm39)	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,513,619 (GRCm39)	K500*	probably null	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Cmip	A	T	8: 117,984,048 (GRCm39)	T70S	possibly damaging	Het
Col22a1	G	T	15: 71,878,815 (GRCm39)	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,093,531 (GRCm39)		probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,431,671 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,335,864 (GRCm39)	T2277S	probably benign	Het
Dysf	T	A	6: 84,184,194 (GRCm39)	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,147,440 (GRCm39)		probably benign	Het
Elp3	A	G	14: 65,819,626 (GRCm39)	Y111H	probably damaging	Het
Eps8l2	A	T	7: 140,936,259 (GRCm39)	Q243L	probably benign	Het
Eri2	C	A	7: 119,385,291 (GRCm39)	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,314,700 (GRCm39)	N614K	probably damaging	Het
Gm5108	T	G	5: 68,134,214 (GRCm39)	I74S	unknown	Het
Gpn1	T	C	5: 31,658,235 (GRCm39)	F130L	probably damaging	Het
Gpr176	T	A	2: 118,203,521 (GRCm39)	I50F	probably benign	Het
Gramd1a	A	G	7: 30,839,246 (GRCm39)	S221P	probably benign	Het
Hivep3	A	G	4: 119,954,305 (GRCm39)	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,856,383 (GRCm39)		noncoding transcript	Het
Itgb2	C	A	10: 77,381,868 (GRCm39)	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,819,988 (GRCm39)	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,799,388 (GRCm39)		probably benign	Het
Kif15	A	G	9: 122,846,326 (GRCm39)	S76G	probably benign	Het
Kpna3	C	T	14: 61,622,096 (GRCm39)	V223I	probably damaging	Het
Krt80	A	G	15: 101,262,089 (GRCm39)		probably benign	Het
Lcorl	G	T	5: 45,882,766 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,921,348 (GRCm39)	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,203 (GRCm39)	N255K	possibly damaging	Het
Npat	A	T	9: 53,473,521 (GRCm39)	K438*	probably null	Het
Or4a73	T	A	2: 89,421,444 (GRCm39)	N5I	possibly damaging	Het
P4htm	T	C	9: 108,474,582 (GRCm39)	Y61C	probably damaging	Het
Pgap6	T	C	17: 26,340,972 (GRCm39)	Y692H	probably benign	Het
Polr3h	G	T	15: 81,801,480 (GRCm39)		probably null	Het
Prlr	C	T	15: 10,322,532 (GRCm39)	T176I	probably benign	Het
Psme4	T	G	11: 30,754,294 (GRCm39)	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 100,967,968 (GRCm39)	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792 (GRCm39)	E448G	probably damaging	Het
Rpf1	A	T	3: 146,225,218 (GRCm39)		probably null	Het
Sectm1b	T	C	11: 120,946,500 (GRCm39)	I132V	probably benign	Het
Sestd1	T	A	2: 77,017,503 (GRCm39)	H688L	probably benign	Het
Sidt2	T	C	9: 45,855,752 (GRCm39)	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,018,395 (GRCm39)	K938M	probably damaging	Het
Sin3b	C	A	8: 73,476,506 (GRCm39)	R647S	probably benign	Het
Slc16a14	T	C	1: 84,889,988 (GRCm39)	H439R	possibly damaging	Het
Stc1	T	C	14: 69,269,822 (GRCm39)	V134A	probably benign	Het
Stk11ip	G	A	1: 75,501,335 (GRCm39)	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Thra	G	A	11: 98,654,514 (GRCm39)	V295I	possibly damaging	Het
Tnr	T	C	1: 159,740,336 (GRCm39)	M1170T	probably damaging	Het
Tpcn2	T	A	7: 144,832,521 (GRCm39)	I112F	probably damaging	Het
Trdv2-2	T	C	14: 54,198,998 (GRCm39)	L96P	probably damaging	Het
Trim24	T	A	6: 37,935,504 (GRCm39)	W832R	probably damaging	Het
Usp4	T	G	9: 108,268,959 (GRCm39)	S891A	probably benign	Het
Vmn1r88	A	T	7: 12,912,440 (GRCm39)	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,931,494 (GRCm39)	L60S	probably benign	Het
Wdr74	T	C	19: 8,717,197 (GRCm39)	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,218,653 (GRCm39)		probably benign	Het
Xpo1	A	T	11: 23,218,656 (GRCm39)		probably benign	Het
Zfp850	C	A	7: 27,689,620 (GRCm39)	G196V	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
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'- ATGGAGCAAGTAGGGGTTCC -3'
(R):5'- TGAGTCCTGCCATTAAAGTGATC -3'

Sequencing Primer
(F):5'- CCCCCAAAACTGTAGGAGAG -3'
(R):5'- GTCCTGCCATTAAAGTGATCTCTAG -3'

Posted On

2017-02-28