Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02410:Lamc3'

292270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lamc3

Ensembl Gene

ENSMUSG00000026840

Gene Name

laminin gamma 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02410

Quality Score

Status

Chromosome

Chromosomal Location

31777303-31836551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31795977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 417 (T417A)

Ref Sequence

ENSEMBL: ENSMUSP00000118745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028187] [ENSMUST00000138325]

AlphaFold

Q9R0B6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028187
AA Change: T417A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: T417A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
LamNT	38	278	4.32e-115	SMART
EGF_Lam	280	333	4.19e-8	SMART
EGF_Lam	336	389	4.81e-8	SMART
EGF_Lam	392	436	2.52e-11	SMART
EGF_Lam	439	486	1.16e-10	SMART
low complexity region	538	549	N/A	INTRINSIC
low complexity region	591	603	N/A	INTRINSIC
EGF_like	649	716	3.69e0	SMART
EGF_Lam	719	764	3.1e-11	SMART
EGF_Lam	767	819	3.43e-4	SMART
EGF_Lam	822	875	2.16e-10	SMART
EGF_Lam	878	925	6.29e-12	SMART
EGF_Lam	928	973	1.62e-14	SMART
EGF_Lam	976	1021	1.02e-6	SMART
low complexity region	1032	1046	N/A	INTRINSIC
coiled coil region	1119	1150	N/A	INTRINSIC
low complexity region	1234	1247	N/A	INTRINSIC
low complexity region	1397	1407	N/A	INTRINSIC
coiled coil region	1444	1467	N/A	INTRINSIC
coiled coil region	1528	1575	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000138325
AA Change: T417A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: T417A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
LamNT	38	278	4.32e-115	SMART
EGF_Lam	280	333	4.19e-8	SMART
EGF_Lam	336	389	4.81e-8	SMART
EGF_Lam	392	436	2.52e-11	SMART
EGF_Lam	439	486	1.16e-10	SMART
low complexity region	538	549	N/A	INTRINSIC
low complexity region	591	603	N/A	INTRINSIC
EGF_like	649	716	3.69e0	SMART
EGF_Lam	719	764	3.1e-11	SMART
EGF_Lam	767	819	3.43e-4	SMART
EGF_Lam	822	875	2.16e-10	SMART
EGF_Lam	878	925	6.29e-12	SMART
EGF_Lam	928	973	1.62e-14	SMART
EGF_Lam	976	1021	1.02e-6	SMART
low complexity region	1032	1046	N/A	INTRINSIC
coiled coil region	1119	1150	N/A	INTRINSIC
low complexity region	1245	1258	N/A	INTRINSIC
low complexity region	1408	1418	N/A	INTRINSIC
coiled coil region	1455	1478	N/A	INTRINSIC

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 gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal amacrine cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	G	A	1: 165,337,977 (GRCm39)	C197Y	probably damaging	Het
Ano2	A	G	6: 125,792,496 (GRCm39)		probably null	Het
Aqr	A	G	2: 113,967,398 (GRCm39)	V539A	possibly damaging	Het
Bnip3	C	A	7: 138,500,528 (GRCm39)	G21C	probably damaging	Het
Cul1	T	A	6: 47,461,948 (GRCm39)	M37K	probably damaging	Het
Dazl	T	C	17: 50,600,426 (GRCm39)		probably benign	Het
Dsg2	A	G	18: 20,735,189 (GRCm39)	T1056A	probably benign	Het
Ewsr1	A	G	11: 5,043,863 (GRCm39)		probably benign	Het
Fam167b	G	A	4: 129,472,011 (GRCm39)	A53V	probably benign	Het
Fat3	T	C	9: 15,909,141 (GRCm39)	Y2287C	probably damaging	Het
H2-M10.3	A	T	17: 36,677,428 (GRCm39)	H283Q	probably damaging	Het
Hectd2	C	T	19: 36,572,613 (GRCm39)	R39*	probably null	Het
Hnrnph3	A	G	10: 62,851,503 (GRCm39)		probably benign	Het
Hps4	T	C	5: 112,518,093 (GRCm39)	V362A	probably benign	Het
Igkv9-120	A	C	6: 68,027,027 (GRCm39)		probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Loxhd1	T	C	18: 77,490,648 (GRCm39)	V1307A	probably benign	Het
Mpdz	T	C	4: 81,215,730 (GRCm39)	E1511G	probably benign	Het
Nprl3	A	T	11: 32,217,539 (GRCm39)	M1K	probably null	Het
Or9i2	A	G	19: 13,816,495 (GRCm39)	I14T	probably benign	Het
Ppp1r15a	A	G	7: 45,173,479 (GRCm39)	V443A	probably damaging	Het
Psmd1	T	G	1: 86,005,159 (GRCm39)	L198V	probably damaging	Het
Rapgef4	A	T	2: 72,056,938 (GRCm39)	I566F	possibly damaging	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Siah2	T	C	3: 58,583,468 (GRCm39)	R273G	probably damaging	Het
Siglecg	C	T	7: 43,058,253 (GRCm39)	P47S	probably damaging	Het
Sox6	A	G	7: 115,085,979 (GRCm39)	S621P	probably damaging	Het
Spata31e5	A	G	1: 28,817,712 (GRCm39)	S107P	probably benign	Het
Ttn	C	A	2: 76,555,278 (GRCm39)	A30576S	probably benign	Het
Ttyh1	A	G	7: 4,136,898 (GRCm39)		probably benign	Het
Ush2a	C	T	1: 188,648,194 (GRCm39)	R4600C	probably damaging	Het
Usp36	C	T	11: 118,167,011 (GRCm39)	V289M	probably damaging	Het

Other mutations in Lamc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Lamc3	APN	2	31,790,593 (GRCm39)	missense	probably damaging	0.99
IGL00823:Lamc3	APN	2	31,808,533 (GRCm39)	missense	probably damaging	1.00
IGL01020:Lamc3	APN	2	31,804,668 (GRCm39)	missense	probably benign	0.07
IGL01086:Lamc3	APN	2	31,788,488 (GRCm39)	missense	probably damaging	1.00
IGL01618:Lamc3	APN	2	31,802,119 (GRCm39)	missense	probably damaging	0.99
IGL01655:Lamc3	APN	2	31,788,290 (GRCm39)	missense	probably damaging	1.00
IGL02093:Lamc3	APN	2	31,777,667 (GRCm39)	missense	probably damaging	1.00
IGL02309:Lamc3	APN	2	31,804,616 (GRCm39)	splice site	probably benign
IGL02340:Lamc3	APN	2	31,808,469 (GRCm39)	missense	probably damaging	1.00
IGL02548:Lamc3	APN	2	31,810,674 (GRCm39)	missense	probably benign	0.00
IGL02679:Lamc3	APN	2	31,835,410 (GRCm39)	missense	probably benign	0.01
IGL02751:Lamc3	APN	2	31,810,716 (GRCm39)	missense	probably benign	0.07
IGL02820:Lamc3	APN	2	31,813,034 (GRCm39)	missense	probably damaging	1.00
IGL02926:Lamc3	APN	2	31,825,738 (GRCm39)	splice site	probably benign
IGL02926:Lamc3	APN	2	31,825,737 (GRCm39)	splice site	probably benign
IGL03090:Lamc3	APN	2	31,798,710 (GRCm39)	splice site	probably benign
IGL03258:Lamc3	APN	2	31,777,695 (GRCm39)	missense	probably damaging	1.00
R0005:Lamc3	UTSW	2	31,812,440 (GRCm39)	missense	probably benign	0.07
R0137:Lamc3	UTSW	2	31,798,628 (GRCm39)	missense	probably damaging	1.00
R0179:Lamc3	UTSW	2	31,805,096 (GRCm39)	splice site	probably benign
R0244:Lamc3	UTSW	2	31,830,733 (GRCm39)	missense	probably damaging	1.00
R0512:Lamc3	UTSW	2	31,827,980 (GRCm39)	missense	probably damaging	1.00
R1052:Lamc3	UTSW	2	31,818,814 (GRCm39)	missense	probably benign	0.03
R1142:Lamc3	UTSW	2	31,830,733 (GRCm39)	missense	probably damaging	1.00
R1366:Lamc3	UTSW	2	31,818,859 (GRCm39)	missense	probably damaging	1.00
R1463:Lamc3	UTSW	2	31,777,423 (GRCm39)	missense	probably benign
R1515:Lamc3	UTSW	2	31,830,763 (GRCm39)	missense	probably damaging	1.00
R1642:Lamc3	UTSW	2	31,806,008 (GRCm39)	missense	probably damaging	1.00
R1692:Lamc3	UTSW	2	31,811,793 (GRCm39)	missense	probably null	0.01
R1707:Lamc3	UTSW	2	31,802,141 (GRCm39)	critical splice donor site	probably null
R1714:Lamc3	UTSW	2	31,830,769 (GRCm39)	missense	probably benign	0.02
R1838:Lamc3	UTSW	2	31,815,594 (GRCm39)	missense	possibly damaging	0.89
R2940:Lamc3	UTSW	2	31,830,714 (GRCm39)	missense	probably benign	0.02
R3177:Lamc3	UTSW	2	31,798,637 (GRCm39)	missense	probably damaging	1.00
R3277:Lamc3	UTSW	2	31,798,637 (GRCm39)	missense	probably damaging	1.00
R3846:Lamc3	UTSW	2	31,814,604 (GRCm39)	missense	probably benign	0.01
R4065:Lamc3	UTSW	2	31,835,270 (GRCm39)	missense	probably benign	0.00
R4089:Lamc3	UTSW	2	31,810,520 (GRCm39)	nonsense	probably null
R4373:Lamc3	UTSW	2	31,788,244 (GRCm39)	missense	probably damaging	1.00
R4394:Lamc3	UTSW	2	31,821,964 (GRCm39)	missense	probably benign
R4395:Lamc3	UTSW	2	31,821,964 (GRCm39)	missense	probably benign
R4397:Lamc3	UTSW	2	31,821,964 (GRCm39)	missense	probably benign
R4746:Lamc3	UTSW	2	31,795,626 (GRCm39)	missense	possibly damaging	0.77
R4948:Lamc3	UTSW	2	31,830,748 (GRCm39)	missense	probably benign	0.02
R4960:Lamc3	UTSW	2	31,805,966 (GRCm39)	missense	probably benign	0.00
R5025:Lamc3	UTSW	2	31,798,681 (GRCm39)	missense	probably benign	0.13
R5062:Lamc3	UTSW	2	31,795,679 (GRCm39)	missense	possibly damaging	0.60
R5170:Lamc3	UTSW	2	31,777,356 (GRCm39)	start codon destroyed	probably benign	0.03
R5286:Lamc3	UTSW	2	31,808,608 (GRCm39)	missense	probably damaging	1.00
R5457:Lamc3	UTSW	2	31,821,997 (GRCm39)	missense	probably benign
R5655:Lamc3	UTSW	2	31,815,729 (GRCm39)	missense	probably benign	0.01
R5928:Lamc3	UTSW	2	31,811,721 (GRCm39)	missense	probably benign	0.00
R6018:Lamc3	UTSW	2	31,795,724 (GRCm39)	missense	probably damaging	1.00
R6479:Lamc3	UTSW	2	31,777,413 (GRCm39)	missense	probably benign
R6601:Lamc3	UTSW	2	31,810,544 (GRCm39)	missense	possibly damaging	0.94
R6920:Lamc3	UTSW	2	31,798,701 (GRCm39)	missense	probably damaging	1.00
R6924:Lamc3	UTSW	2	31,828,081 (GRCm39)	missense	probably benign
R7114:Lamc3	UTSW	2	31,820,657 (GRCm39)	missense	probably damaging	0.99
R7305:Lamc3	UTSW	2	31,820,714 (GRCm39)	missense	probably benign	0.39
R7559:Lamc3	UTSW	2	31,812,380 (GRCm39)	missense	probably benign	0.00
R7714:Lamc3	UTSW	2	31,812,279 (GRCm39)	splice site	probably null
R7787:Lamc3	UTSW	2	31,790,551 (GRCm39)	missense	probably damaging	0.99
R7819:Lamc3	UTSW	2	31,811,775 (GRCm39)	missense	probably benign
R8171:Lamc3	UTSW	2	31,804,983 (GRCm39)	missense	probably benign	0.06
R8208:Lamc3	UTSW	2	31,777,426 (GRCm39)	missense	possibly damaging	0.47
R8412:Lamc3	UTSW	2	31,802,128 (GRCm39)	missense	probably damaging	0.98
R9058:Lamc3	UTSW	2	31,798,653 (GRCm39)	missense	probably benign	0.01
R9242:Lamc3	UTSW	2	31,788,323 (GRCm39)	missense	probably benign	0.14
R9269:Lamc3	UTSW	2	31,818,908 (GRCm39)	nonsense	probably null
R9269:Lamc3	UTSW	2	31,813,017 (GRCm39)	missense	probably benign	0.11
X0010:Lamc3	UTSW	2	31,828,024 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16