Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01529:Ltbp3'

89691

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 #

IGL01529

Quality Score

Status

Chromosome

Chromosomal Location

5790932-5808560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5797867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 502 (D502G)

Ref Sequence

ENSEMBL: ENSMUSP00000080214 (fasta)

Gene Model

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

AlphaFold

Q61810

Predicted Effect

probably benign
Transcript: ENSMUST00000081496
AA Change: D502G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: D502G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	A	T	7: 83,800,622 (GRCm39)	I144N	possibly damaging	Het
Adamts19	T	A	18: 59,096,535 (GRCm39)	H588Q	probably damaging	Het
Ankrd2	A	G	19: 42,028,349 (GRCm39)	K46E	probably damaging	Het
Arhgap10	A	C	8: 78,072,920 (GRCm39)	L513V	possibly damaging	Het
Arhgef12	C	A	9: 42,901,351 (GRCm39)	R817L	probably damaging	Het
Asxl3	T	A	18: 22,650,712 (GRCm39)	N900K	probably damaging	Het
Atp9b	A	T	18: 80,887,826 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,398,042 (GRCm39)	N773D	probably damaging	Het
Cep97	A	G	16: 55,750,981 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,808,133 (GRCm39)	F67S	probably damaging	Het
Dolk	T	C	2: 30,175,749 (GRCm39)	T99A	probably benign	Het
Egfr	A	T	11: 16,813,014 (GRCm39)	R165W	probably benign	Het
Fat2	T	A	11: 55,172,982 (GRCm39)	D2577V	probably damaging	Het
Hsph1	T	C	5: 149,559,499 (GRCm39)	I15V	probably benign	Het
Idh2	T	C	7: 79,747,693 (GRCm39)	T276A	probably benign	Het
Jag1	T	C	2: 136,926,897 (GRCm39)	Y954C	probably damaging	Het
Kat2a	A	T	11: 100,602,735 (GRCm39)	W118R	probably damaging	Het
Kcnh6	G	T	11: 105,911,522 (GRCm39)	R636L	probably benign	Het
Klk1b16	G	T	7: 43,790,163 (GRCm39)	K144N	probably benign	Het
Lrrk2	T	A	15: 91,696,516 (GRCm39)	L2435I	possibly damaging	Het
Ltn1	A	T	16: 87,178,359 (GRCm39)	N1623K	probably benign	Het
Mcm10	C	A	2: 5,013,439 (GRCm39)	E64D	probably benign	Het
Med13l	A	G	5: 118,880,400 (GRCm39)	N1164S	probably damaging	Het
Myo1a	A	G	10: 127,556,529 (GRCm39)	N1025D	probably benign	Het
Or2m12	A	T	16: 19,105,450 (GRCm39)	D14E	probably benign	Het
Or8g27	C	T	9: 39,129,427 (GRCm39)	T258I	probably benign	Het
Pdcd11	A	G	19: 47,098,068 (GRCm39)	N785D	probably benign	Het
Psmd8	A	T	7: 28,878,576 (GRCm39)	I81N	probably damaging	Het
Rigi	G	A	4: 40,225,685 (GRCm39)	H194Y	probably benign	Het
Ryr1	C	T	7: 28,774,652 (GRCm39)	G2330R	probably damaging	Het
Scrib	T	C	15: 75,921,084 (GRCm39)	T80A	possibly damaging	Het
Sergef	A	T	7: 46,092,942 (GRCm39)	W356R	probably damaging	Het
Slc22a19	T	C	19: 7,660,300 (GRCm39)	N370S	probably damaging	Het
Syde1	A	G	10: 78,426,015 (GRCm39)	S51P	probably benign	Het
Umodl1	A	T	17: 31,215,233 (GRCm39)	D1019V	possibly damaging	Het
Vmn2r45	A	G	7: 8,486,493 (GRCm39)	M265T	probably benign	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
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
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

2013-12-03