Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00978:Ltbp3'

29550

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltbp3

Ensembl Gene

ENSMUSG00000024940

Gene Name

latent transforming growth factor beta binding protein 3

Synonyms

Ltbp2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

5790932-5808560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5804047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 853 (H853L)

Ref Sequence

ENSEMBL: ENSMUSP00000080214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025890] [ENSMUST00000081496]

AlphaFold

Q61810

Predicted Effect

probably benign
Transcript: ENSMUST00000025890

SMART Domains

Protein: ENSMUSP00000025890
Gene: ENSMUSG00000024941

Domain	Start	End	E-Value	Type
low complexity region	18	28	N/A	INTRINSIC
Pfam:Pkinase_Tyr	30	254	3.3e-11	PFAM
Pfam:Pkinase	31	252	2e-14	PFAM
SCOP:d1gw5a_	350	536	1e-18	SMART
low complexity region	556	577	N/A	INTRINSIC
low complexity region	608	620	N/A	INTRINSIC
coiled coil region	759	795	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081496
AA Change: H853L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: H853L

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
EGF	109	138	6.76e-3	SMART
low complexity region	140	154	N/A	INTRINSIC
low complexity region	191	199	N/A	INTRINSIC
low complexity region	221	233	N/A	INTRINSIC
low complexity region	254	273	N/A	INTRINSIC
Pfam:TB	286	323	8e-9	PFAM
EGF_CA	352	392	2.08e-12	SMART
Pfam:TB	411	451	4.8e-18	PFAM
low complexity region	526	537	N/A	INTRINSIC
EGF_CA	571	612	8.71e-6	SMART
EGF_CA	613	656	2.8e-9	SMART
EGF_CA	657	699	2.48e-10	SMART
EGF_CA	700	740	4.96e-10	SMART
EGF_CA	741	781	1.69e-12	SMART
EGF_CA	782	822	1.94e-12	SMART
EGF_CA	823	862	3.27e-10	SMART
EGF_CA	863	905	3.32e-11	SMART
Pfam:TB	925	967	5.7e-16	PFAM
EGF_CA	990	1032	4.49e-8	SMART
EGF_CA	1033	1073	3.17e-8	SMART
Pfam:TB	1097	1134	1.2e-11	PFAM
EGF	1170	1203	1.53e1	SMART
EGF_CA	1204	1248	1.53e-10	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,241,773 (GRCm39)		probably benign	Het
Alpk2	A	T	18: 65,424,605 (GRCm39)		probably benign	Het
Angptl8	T	C	9: 21,748,349 (GRCm39)		probably benign	Het
AU040320	T	A	4: 126,722,632 (GRCm39)	D383E	probably benign	Het
Cep97	C	T	16: 55,745,323 (GRCm39)		probably benign	Het
Clcn4	A	T	7: 7,290,672 (GRCm39)	L649H	probably damaging	Het
Col5a2	T	C	1: 45,415,899 (GRCm39)	N1416S	probably benign	Het
Erbb2	C	T	11: 98,326,456 (GRCm39)	P1027S	probably damaging	Het
Eya1	A	G	1: 14,340,925 (GRCm39)		probably benign	Het
Gfm2	T	C	13: 97,299,485 (GRCm39)	I402T	probably benign	Het
Gmeb2	A	T	2: 180,900,836 (GRCm39)	V187E	probably benign	Het
Hectd1	T	C	12: 51,838,173 (GRCm39)	H662R	possibly damaging	Het
Ifne	T	C	4: 88,798,268 (GRCm39)	Q50R	probably benign	Het
Kidins220	A	G	12: 25,107,473 (GRCm39)	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245 (GRCm39)	D146V	probably damaging	Het
Krt36	T	C	11: 99,993,774 (GRCm39)	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,601,188 (GRCm39)	S73R	possibly damaging	Het
Map3k5	G	A	10: 20,017,313 (GRCm39)	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,663,326 (GRCm39)	N148S	probably benign	Het
Mylk3	A	T	8: 86,082,155 (GRCm39)	L211*	probably null	Het
Nras	T	C	3: 102,966,232 (GRCm39)		probably benign	Het
Or2n1c	A	T	17: 38,519,873 (GRCm39)	I246F	probably damaging	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Os9	A	T	10: 126,956,378 (GRCm39)	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,151,228 (GRCm39)	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,359,284 (GRCm39)	R95*	probably null	Het
Rnf17	C	T	14: 56,749,728 (GRCm39)	P1425S	probably damaging	Het
Smad2	T	C	18: 76,432,846 (GRCm39)		probably benign	Het
Ttll5	C	T	12: 85,980,256 (GRCm39)	Q76*	probably null	Het
Uri1	A	T	7: 37,696,156 (GRCm39)		probably benign	Het
Vmn2r102	G	T	17: 19,899,185 (GRCm39)		probably null	Het
Vmn2r70	T	G	7: 85,213,007 (GRCm39)	M467L	probably benign	Het
Zfp318	T	A	17: 46,724,652 (GRCm39)	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,204,855 (GRCm39)	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,200,824 (GRCm39)	H235R	possibly damaging	Het

Other mutations in Ltbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Ltbp3	APN	19	5,806,044 (GRCm39)	missense	probably damaging	0.99
IGL01517:Ltbp3	APN	19	5,807,760 (GRCm39)	missense	possibly damaging	0.57
IGL01529:Ltbp3	APN	19	5,797,867 (GRCm39)	missense	probably benign	0.06
IGL03119:Ltbp3	APN	19	5,807,471 (GRCm39)	missense	probably damaging	0.98
abner	UTSW	19	5,795,685 (GRCm39)	missense	probably benign	0.09
csp	UTSW	19	5,797,716 (GRCm39)	missense	probably damaging	1.00
lilia	UTSW	19	5,797,885 (GRCm39)	critical splice donor site	probably null
Rapunzel	UTSW	19	5,803,970 (GRCm39)	nonsense	probably null
PIT4305001:Ltbp3	UTSW	19	5,802,095 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Ltbp3	UTSW	19	5,807,822 (GRCm39)	missense	probably damaging	0.97
PIT4480001:Ltbp3	UTSW	19	5,801,254 (GRCm39)	missense	possibly damaging	0.73
R0211:Ltbp3	UTSW	19	5,802,171 (GRCm39)	critical splice donor site	probably null
R0718:Ltbp3	UTSW	19	5,796,776 (GRCm39)	splice site	probably benign
R1103:Ltbp3	UTSW	19	5,797,440 (GRCm39)	critical splice acceptor site	probably null
R1103:Ltbp3	UTSW	19	5,797,439 (GRCm39)	critical splice acceptor site	probably null
R1299:Ltbp3	UTSW	19	5,795,456 (GRCm39)	splice site	probably benign
R1510:Ltbp3	UTSW	19	5,798,915 (GRCm39)	missense	probably benign	0.02
R1616:Ltbp3	UTSW	19	5,796,995 (GRCm39)	missense	probably damaging	1.00
R1682:Ltbp3	UTSW	19	5,801,782 (GRCm39)	missense	probably benign	0.02
R1752:Ltbp3	UTSW	19	5,795,685 (GRCm39)	missense	probably benign	0.09
R1806:Ltbp3	UTSW	19	5,803,970 (GRCm39)	nonsense	probably null
R1866:Ltbp3	UTSW	19	5,797,877 (GRCm39)	missense	probably benign	0.43
R1981:Ltbp3	UTSW	19	5,808,107 (GRCm39)	missense	probably benign	0.15
R2211:Ltbp3	UTSW	19	5,803,990 (GRCm39)	missense	possibly damaging	0.79
R2239:Ltbp3	UTSW	19	5,801,551 (GRCm39)	nonsense	probably null
R2261:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R2263:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R2380:Ltbp3	UTSW	19	5,801,551 (GRCm39)	nonsense	probably null
R2412:Ltbp3	UTSW	19	5,796,673 (GRCm39)	missense	probably benign	0.08
R2446:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R2449:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3056:Ltbp3	UTSW	19	5,801,434 (GRCm39)	missense	probably benign	0.11
R3080:Ltbp3	UTSW	19	5,806,916 (GRCm39)	frame shift	probably null
R3863:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3864:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3951:Ltbp3	UTSW	19	5,806,029 (GRCm39)	missense	probably damaging	1.00
R3961:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3962:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3963:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3972:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R4028:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R4031:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R4041:Ltbp3	UTSW	19	5,801,899 (GRCm39)	missense	possibly damaging	0.95
R4060:Ltbp3	UTSW	19	5,792,348 (GRCm39)	missense	probably benign	0.41
R4296:Ltbp3	UTSW	19	5,806,610 (GRCm39)	critical splice acceptor site	probably null
R4525:Ltbp3	UTSW	19	5,796,387 (GRCm39)	missense	probably benign	0.09
R4660:Ltbp3	UTSW	19	5,798,814 (GRCm39)	splice site	probably null
R4794:Ltbp3	UTSW	19	5,806,707 (GRCm39)	missense	probably damaging	1.00
R4980:Ltbp3	UTSW	19	5,803,955 (GRCm39)	critical splice acceptor site	probably null
R5071:Ltbp3	UTSW	19	5,806,851 (GRCm39)	missense	probably damaging	1.00
R5702:Ltbp3	UTSW	19	5,797,849 (GRCm39)	missense	probably benign
R5771:Ltbp3	UTSW	19	5,797,572 (GRCm39)	missense	probably damaging	1.00
R6021:Ltbp3	UTSW	19	5,803,708 (GRCm39)	missense	probably benign	0.00
R6053:Ltbp3	UTSW	19	5,802,122 (GRCm39)	missense	probably damaging	0.98
R6321:Ltbp3	UTSW	19	5,795,685 (GRCm39)	missense	probably benign	0.09
R6339:Ltbp3	UTSW	19	5,797,505 (GRCm39)	missense	probably damaging	1.00
R6371:Ltbp3	UTSW	19	5,795,800 (GRCm39)	splice site	probably null
R6709:Ltbp3	UTSW	19	5,797,885 (GRCm39)	critical splice donor site	probably null
R7666:Ltbp3	UTSW	19	5,797,034 (GRCm39)	missense	possibly damaging	0.79
R8499:Ltbp3	UTSW	19	5,798,712 (GRCm39)	missense	probably benign	0.01
R8937:Ltbp3	UTSW	19	5,797,512 (GRCm39)	missense	probably benign	0.09
R9362:Ltbp3	UTSW	19	5,803,697 (GRCm39)	missense	probably benign	0.01
R9645:Ltbp3	UTSW	19	5,802,099 (GRCm39)	missense	probably damaging	1.00
R9697:Ltbp3	UTSW	19	5,792,521 (GRCm39)	missense	probably benign	0.00
R9774:Ltbp3	UTSW	19	5,804,014 (GRCm39)	missense	probably benign	0.08
X0066:Ltbp3	UTSW	19	5,801,305 (GRCm39)	missense	probably benign	0.01
Z1177:Ltbp3	UTSW	19	5,797,758 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17