Incidental Mutation 'R6709:Ltbp3'
| ID |
529086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp3
|
| Ensembl Gene |
ENSMUSG00000024940 |
| Gene Name |
latent transforming growth factor beta binding protein 3 |
| Synonyms |
Ltbp2 |
| MMRRC Submission |
044827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R6709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5790932-5808560 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 5797885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081496]
|
| AlphaFold |
Q61810 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081496
|
| SMART Domains |
Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
| 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 |
|
| Meta Mutation Damage Score |
0.9501 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (58/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,552,779 (GRCm39) |
D36G |
possibly damaging |
Het |
| Actn1 |
T |
A |
12: 80,240,418 (GRCm39) |
D223V |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,713,917 (GRCm39) |
N201Y |
probably benign |
Het |
| Agbl4 |
T |
A |
4: 111,423,979 (GRCm39) |
|
probably benign |
Het |
| Atg4d |
T |
C |
9: 21,179,944 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,884,242 (GRCm39) |
T367A |
possibly damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,229,262 (GRCm39) |
T293A |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,321,577 (GRCm39) |
G977E |
probably damaging |
Het |
| Csnka2ip |
A |
T |
16: 64,298,932 (GRCm39) |
H33Q |
possibly damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,714,902 (GRCm39) |
|
probably null |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,594,706 (GRCm39) |
D3492G |
probably damaging |
Het |
| Eepd1 |
A |
T |
9: 25,394,164 (GRCm39) |
T143S |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,940,136 (GRCm39) |
*650W |
probably null |
Het |
| Etv1 |
C |
T |
12: 38,833,796 (GRCm39) |
T19I |
possibly damaging |
Het |
| Fam133b |
T |
C |
5: 3,619,059 (GRCm39) |
|
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,302,345 (GRCm39) |
H70R |
probably benign |
Het |
| Galnt11 |
C |
T |
5: 25,453,851 (GRCm39) |
R26C |
probably damaging |
Het |
| Gm136 |
T |
A |
4: 34,755,884 (GRCm39) |
Y43F |
probably damaging |
Het |
| Gm17409 |
A |
T |
2: 58,361,088 (GRCm39) |
|
probably null |
Het |
| Gm5591 |
A |
G |
7: 38,221,499 (GRCm39) |
I190T |
probably benign |
Het |
| H1f9 |
T |
A |
11: 94,858,772 (GRCm39) |
S22R |
possibly damaging |
Het |
| Htra1 |
C |
T |
7: 130,537,948 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,221,117 (GRCm39) |
Y753N |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,475,276 (GRCm39) |
T412A |
probably benign |
Het |
| L3mbtl3 |
G |
A |
10: 26,158,695 (GRCm39) |
T651I |
unknown |
Het |
| Ltb4r2 |
A |
C |
14: 55,999,990 (GRCm39) |
T204P |
possibly damaging |
Het |
| Mlxip |
A |
T |
5: 123,585,339 (GRCm39) |
I616F |
possibly damaging |
Het |
| Mpz |
A |
T |
1: 170,978,301 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,041,358 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,703,906 (GRCm39) |
L1949P |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,584,009 (GRCm39) |
Y116H |
probably damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,862 (GRCm39) |
M68V |
probably benign |
Het |
| Or6s1 |
A |
T |
14: 51,308,286 (GRCm39) |
L188H |
probably damaging |
Het |
| Pde4d |
T |
G |
13: 110,084,813 (GRCm39) |
L470R |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,472,074 (GRCm39) |
N1013K |
probably benign |
Het |
| Ptpn13 |
A |
C |
5: 103,734,622 (GRCm39) |
Q2118P |
probably benign |
Het |
| Pwwp2a |
C |
G |
11: 43,595,554 (GRCm39) |
L240V |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,979,263 (GRCm39) |
L196P |
probably benign |
Het |
| Shank1 |
A |
T |
7: 44,003,600 (GRCm39) |
N1765I |
probably benign |
Het |
| Slc25a13 |
A |
G |
6: 6,073,440 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc33a1 |
C |
A |
3: 63,852,122 (GRCm39) |
M450I |
possibly damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,001,216 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,526,616 (GRCm39) |
L812Q |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,301,024 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,773,887 (GRCm39) |
M528K |
probably benign |
Het |
| Syngr4 |
A |
G |
7: 45,538,122 (GRCm39) |
V82A |
probably benign |
Het |
| Tmem185b |
G |
A |
1: 119,454,604 (GRCm39) |
V122I |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,340,587 (GRCm39) |
D607G |
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,183,262 (GRCm39) |
I186N |
probably damaging |
Het |
| Trp53i11 |
A |
T |
2: 93,030,163 (GRCm39) |
M157L |
probably benign |
Het |
| Ubr3 |
C |
A |
2: 69,843,436 (GRCm39) |
H1559N |
probably damaging |
Het |
| Usp25 |
A |
C |
16: 76,880,820 (GRCm39) |
E727A |
probably benign |
Het |
| Vmn2r42 |
T |
A |
7: 8,195,618 (GRCm39) |
R509S |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,069 (GRCm39) |
N172D |
probably benign |
Het |
| Zfp14 |
T |
C |
7: 29,737,557 (GRCm39) |
Y476C |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTCAAGGAGATCTGCC -3'
(R):5'- AGGCTAGGGATTTACATGTTAGAG -3'
Sequencing Primer
(F):5'- AAGGAGATCTGCCCGGCTG -3'
(R):5'- GCAGGATATCTGATATGTGACACCC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation