Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00507:Ltbp3'

3267

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: 0.167) question?

Stock #

IGL00507

Quality Score

Status

Chromosome

Chromosomal Location

5790932-5808560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5806044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 934 (V934A)

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 damaging
Transcript: ENSMUST00000081496
AA Change: V934A

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

SMART Domains

Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: V934A

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	T	9: 54,529,712 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,796 (GRCm39)	R1450S	possibly damaging	Het
Apc	A	G	18: 34,449,979 (GRCm39)	I2258V	probably benign	Het
Atxn2l	C	A	7: 126,095,756 (GRCm39)	A374S	possibly damaging	Het
Cacna1a	T	A	8: 85,297,837 (GRCm39)	Y1182*	probably null	Het
Cc2d1b	G	T	4: 108,486,927 (GRCm39)	A647S	probably damaging	Het
Csn2	A	G	5: 87,842,632 (GRCm39)	S116P	probably benign	Het
Eya4	G	A	10: 23,033,434 (GRCm39)	Q163*	probably null	Het
Fam47c	A	T	X: 77,781,931 (GRCm39)	D171V	probably benign	Het
Fhdc1	A	T	3: 84,356,107 (GRCm39)	C446S	probably damaging	Het
Fkbp9	T	A	6: 56,827,686 (GRCm39)	V169E	probably damaging	Het
Fras1	A	T	5: 96,926,048 (GRCm39)	I3751F	probably damaging	Het
Gkn1	T	C	6: 87,323,321 (GRCm39)	Y164C	probably damaging	Het
Hs3st5	T	C	10: 36,708,918 (GRCm39)	I151T	probably benign	Het
Ighv8-6	A	T	12: 115,129,472 (GRCm39)	S95T	probably damaging	Het
Loxhd1	A	G	18: 77,420,263 (GRCm39)	I296V	probably benign	Het
Lrrc66	T	C	5: 73,764,457 (GRCm39)	E862G	probably benign	Het
Mpp3	A	T	11: 101,892,929 (GRCm39)	I501K	possibly damaging	Het
Mroh2b	C	T	15: 4,991,609 (GRCm39)	T1569I	probably damaging	Het
Nup133	A	T	8: 124,645,706 (GRCm39)	Y626*	probably null	Het
Pak3	T	A	X: 142,572,329 (GRCm39)	N477K	probably damaging	Het
Plod3	A	G	5: 137,025,030 (GRCm39)	H714R	possibly damaging	Het
Ppil1	T	C	17: 29,470,675 (GRCm39)	N102S	probably damaging	Het
Rapgef6	A	T	11: 54,554,935 (GRCm39)	R996*	probably null	Het
Scd3	G	A	19: 44,224,273 (GRCm39)	D169N	probably damaging	Het
Sgo2a	T	A	1: 58,055,753 (GRCm39)	F646I	probably damaging	Het
Slc5a8	A	G	10: 88,743,902 (GRCm39)	Y346C	possibly damaging	Het
Slc7a15	A	T	12: 8,585,474 (GRCm39)	V49E	probably damaging	Het
Stard8	G	A	X: 98,112,941 (GRCm39)	E649K	probably damaging	Het

Other mutations in Ltbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Ltbp3	APN	19	5,804,047 (GRCm39)	missense	probably benign	0.26
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

2012-04-20