Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Lamb3'

576796

Institutional Source

Beutler Lab

Gene Symbol

Lamb3

Ensembl Gene

ENSMUSG00000026639

Gene Name

laminin, beta 3

Synonyms

nicein, 125kDa

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

193207699-193343878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 193332166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 544 (D544E)

Ref Sequence

ENSEMBL: ENSMUSP00000016315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000194677]

AlphaFold

Q61087

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016315
AA Change: D544E

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: D544E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159955
AA Change: D544E

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: D544E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194677
AA Change: D544E

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: D544E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous intracisternal A particle sequence insertion exhibit blistering of the skin and mucosal surfaces with abnormal hemidesmosomes. Mutants die neonatally, usually without feeding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	Het

Other mutations in Lamb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Lamb3	APN	1	193320447	missense	probably damaging	1.00
IGL00898:Lamb3	APN	1	193338883	missense	possibly damaging	0.81
IGL01599:Lamb3	APN	1	193343412	missense	probably benign
IGL02108:Lamb3	APN	1	193332222	missense	probably damaging	1.00
IGL02218:Lamb3	APN	1	193328633	critical splice acceptor site	probably null
IGL02437:Lamb3	APN	1	193327945	missense	probably damaging	1.00
IGL02659:Lamb3	APN	1	193332161	missense	probably damaging	1.00
IGL02677:Lamb3	APN	1	193339522	missense	probably benign	0.01
IGL02815:Lamb3	APN	1	193325555	splice site	probably benign
G1patch:Lamb3	UTSW	1	193304582	missense	probably benign	0.05
R0238:Lamb3	UTSW	1	193321053	missense	probably damaging	1.00
R0238:Lamb3	UTSW	1	193321053	missense	probably damaging	1.00
R0239:Lamb3	UTSW	1	193321053	missense	probably damaging	1.00
R0239:Lamb3	UTSW	1	193321053	missense	probably damaging	1.00
R0240:Lamb3	UTSW	1	193335027	missense	probably damaging	1.00
R0240:Lamb3	UTSW	1	193335027	missense	probably damaging	1.00
R0265:Lamb3	UTSW	1	193320531	missense	probably damaging	1.00
R0455:Lamb3	UTSW	1	193343392	missense	probably damaging	0.99
R0647:Lamb3	UTSW	1	193330796	missense	probably damaging	0.99
R0669:Lamb3	UTSW	1	193332330	missense	probably damaging	1.00
R0826:Lamb3	UTSW	1	193330908	nonsense	probably null
R1552:Lamb3	UTSW	1	193330759	splice site	probably null
R1560:Lamb3	UTSW	1	193339402	missense	probably benign	0.05
R1593:Lamb3	UTSW	1	193330796	missense	probably damaging	0.99
R1599:Lamb3	UTSW	1	193320493	missense	probably damaging	1.00
R1831:Lamb3	UTSW	1	193334879	missense	probably damaging	0.99
R1848:Lamb3	UTSW	1	193334616	missense	possibly damaging	0.96
R2117:Lamb3	UTSW	1	193334181	missense	probably benign	0.00
R2147:Lamb3	UTSW	1	193327904	missense	probably benign	0.00
R2148:Lamb3	UTSW	1	193327904	missense	probably benign	0.00
R2879:Lamb3	UTSW	1	193330784	missense	possibly damaging	0.67
R3019:Lamb3	UTSW	1	193331409	critical splice donor site	probably null
R4380:Lamb3	UTSW	1	193331375	missense	probably benign	0.10
R4648:Lamb3	UTSW	1	193331357	missense	probably damaging	0.99
R4758:Lamb3	UTSW	1	193339961	missense	possibly damaging	0.65
R4790:Lamb3	UTSW	1	193339886	missense	probably damaging	1.00
R4895:Lamb3	UTSW	1	193332314	nonsense	probably null
R5316:Lamb3	UTSW	1	193330193	missense	probably benign	0.00
R5457:Lamb3	UTSW	1	193325994	missense	probably damaging	1.00
R5952:Lamb3	UTSW	1	193332362	missense	probably benign	0.04
R5965:Lamb3	UTSW	1	193343460	missense	probably damaging	1.00
R6334:Lamb3	UTSW	1	193335474	missense	probably damaging	0.96
R6522:Lamb3	UTSW	1	193335453	missense	probably benign	0.01
R6725:Lamb3	UTSW	1	193304582	missense	probably benign	0.05
R6791:Lamb3	UTSW	1	193334861	missense	possibly damaging	0.93
R6828:Lamb3	UTSW	1	193335448	missense	probably benign	0.00
R7143:Lamb3	UTSW	1	193304565	missense	probably damaging	1.00
R7329:Lamb3	UTSW	1	193320540	missense	possibly damaging	0.89
R7556:Lamb3	UTSW	1	193332449	missense	probably benign
R8051:Lamb3	UTSW	1	193330067	missense	possibly damaging	0.80
R8220:Lamb3	UTSW	1	193334248	missense	probably damaging	1.00
R8719:Lamb3	UTSW	1	193323791	missense	probably damaging	1.00
R8878:Lamb3	UTSW	1	193330816	missense	probably damaging	1.00
R8880:Lamb3	UTSW	1	193321055	missense	possibly damaging	0.74
R8885:Lamb3	UTSW	1	193334874	missense	probably benign	0.04
R8893:Lamb3	UTSW	1	193332336	missense	probably damaging	1.00
R8934:Lamb3	UTSW	1	193338860	missense	probably damaging	1.00
R8944:Lamb3	UTSW	1	193332217	nonsense	probably null
R9043:Lamb3	UTSW	1	193325611	nonsense	probably null
R9219:Lamb3	UTSW	1	193327924	missense	probably damaging	1.00
R9329:Lamb3	UTSW	1	193332357	missense	probably benign	0.28
R9402:Lamb3	UTSW	1	193331396	missense
R9415:Lamb3	UTSW	1	193326011	missense	probably benign	0.13
R9555:Lamb3	UTSW	1	193328805	missense	possibly damaging	0.67
X0066:Lamb3	UTSW	1	193339414	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTTGCTCTAGCTGATGTCAAC -3'
(R):5'- TCTAGCAACCGAGAAGCCAG -3'

Sequencing Primer
(F):5'- GCTCTAGCTGATGTCAACAAATAGTC -3'
(R):5'- CTTCGGTGGCATTACGGAGAC -3'

Posted On

2019-10-07