Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Ltbp3'

555366

Institutional Source

Beutler Lab

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: 0.209) question?

Stock #

PIT4453001 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

5740904-5758532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5757794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1188 (E1188K)

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: E1188K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: E1188K

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

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	probably benign	Het

Other mutations in Ltbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Ltbp3	APN	19	5756016	missense	probably damaging	0.99
IGL00978:Ltbp3	APN	19	5754019	missense	probably benign	0.26
IGL01517:Ltbp3	APN	19	5757732	missense	possibly damaging	0.57
IGL01529:Ltbp3	APN	19	5747839	missense	probably benign	0.06
IGL03119:Ltbp3	APN	19	5757443	missense	probably damaging	0.98
abner	UTSW	19	5745657	missense	probably benign	0.09
csp	UTSW	19	5747688	missense	probably damaging	1.00
lilia	UTSW	19	5747857	critical splice donor site	probably null
Rapunzel	UTSW	19	5753942	nonsense	probably null
PIT4305001:Ltbp3	UTSW	19	5752067	missense	probably damaging	0.99
PIT4480001:Ltbp3	UTSW	19	5751226	missense	possibly damaging	0.73
R0211:Ltbp3	UTSW	19	5752143	critical splice donor site	probably null
R0718:Ltbp3	UTSW	19	5746748	splice site	probably benign
R1103:Ltbp3	UTSW	19	5747411	critical splice acceptor site	probably null
R1103:Ltbp3	UTSW	19	5747412	critical splice acceptor site	probably null
R1299:Ltbp3	UTSW	19	5745428	splice site	probably benign
R1510:Ltbp3	UTSW	19	5748887	missense	probably benign	0.02
R1616:Ltbp3	UTSW	19	5746967	missense	probably damaging	1.00
R1682:Ltbp3	UTSW	19	5751754	missense	probably benign	0.02
R1752:Ltbp3	UTSW	19	5745657	missense	probably benign	0.09
R1806:Ltbp3	UTSW	19	5753942	nonsense	probably null
R1866:Ltbp3	UTSW	19	5747849	missense	probably benign	0.43
R1981:Ltbp3	UTSW	19	5758079	missense	probably benign	0.15
R2211:Ltbp3	UTSW	19	5753962	missense	possibly damaging	0.79
R2239:Ltbp3	UTSW	19	5751523	nonsense	probably null
R2261:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R2263:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R2380:Ltbp3	UTSW	19	5751523	nonsense	probably null
R2412:Ltbp3	UTSW	19	5746645	missense	probably benign	0.08
R2446:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R2449:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3056:Ltbp3	UTSW	19	5751406	missense	probably benign	0.11
R3080:Ltbp3	UTSW	19	5756888	frame shift	probably null
R3863:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3864:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3951:Ltbp3	UTSW	19	5756001	missense	probably damaging	1.00
R3961:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3962:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3963:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3972:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R4028:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R4031:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R4041:Ltbp3	UTSW	19	5751871	missense	possibly damaging	0.95
R4060:Ltbp3	UTSW	19	5742320	missense	probably benign	0.41
R4296:Ltbp3	UTSW	19	5756582	critical splice acceptor site	probably null
R4525:Ltbp3	UTSW	19	5746359	missense	probably benign	0.09
R4660:Ltbp3	UTSW	19	5748786	splice site	probably null
R4794:Ltbp3	UTSW	19	5756679	missense	probably damaging	1.00
R4980:Ltbp3	UTSW	19	5753927	critical splice acceptor site	probably null
R5071:Ltbp3	UTSW	19	5756823	missense	probably damaging	1.00
R5702:Ltbp3	UTSW	19	5747821	missense	probably benign
R5771:Ltbp3	UTSW	19	5747544	missense	probably damaging	1.00
R6021:Ltbp3	UTSW	19	5753680	missense	probably benign	0.00
R6053:Ltbp3	UTSW	19	5752094	missense	probably damaging	0.98
R6321:Ltbp3	UTSW	19	5745657	missense	probably benign	0.09
R6339:Ltbp3	UTSW	19	5747477	missense	probably damaging	1.00
R6371:Ltbp3	UTSW	19	5745772	splice site	probably null
R6709:Ltbp3	UTSW	19	5747857	critical splice donor site	probably null
R7666:Ltbp3	UTSW	19	5747006	missense	possibly damaging	0.79
R8499:Ltbp3	UTSW	19	5748684	missense	probably benign	0.01
R8937:Ltbp3	UTSW	19	5747484	missense	probably benign	0.09
R9362:Ltbp3	UTSW	19	5753669	missense	probably benign	0.01
R9645:Ltbp3	UTSW	19	5752071	missense	probably damaging	1.00
R9697:Ltbp3	UTSW	19	5742493	missense	probably benign	0.00
R9774:Ltbp3	UTSW	19	5753986	missense	probably benign	0.08
X0066:Ltbp3	UTSW	19	5751277	missense	probably benign	0.01
Z1177:Ltbp3	UTSW	19	5747730	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTGAGAGCAATTCATTCTGGGAC -3'
(R):5'- TGGTTCAGTTCTCGGCACTC -3'

Sequencing Primer
(F):5'- GCAATTCATTCTGGGACACAAG -3'
(R):5'- CACTCATCAATGTCTGCAAGGTGG -3'

Posted On

2019-06-07