Incidental Mutation 'PIT4480001:Ltbp3'
| ID |
554896 |
| 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: 0.198)
|
| Stock # |
PIT4480001 (G1)
|
| Quality Score |
165.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5790932-5808560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5801254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 631
(N631S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081496]
|
| AlphaFold |
Q61810 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081496
AA Change: N631S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: N631S
| 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: 90.7%
- 10x: 83.8%
- 20x: 69.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
G |
A |
19: 4,917,605 (GRCm39) |
Q413* |
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,740,358 (GRCm39) |
S1238N |
possibly damaging |
Het |
| Arsk |
T |
C |
13: 76,210,484 (GRCm39) |
E521G |
probably damaging |
Het |
| Baiap2 |
A |
G |
11: 119,887,913 (GRCm39) |
T356A |
probably benign |
Het |
| Baz1b |
G |
A |
5: 135,246,819 (GRCm39) |
R756H |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,615 (GRCm39) |
P453S |
probably damaging |
Het |
| Cep41 |
G |
A |
6: 30,658,412 (GRCm39) |
P196S |
probably damaging |
Het |
| Cln5 |
T |
A |
14: 103,309,214 (GRCm39) |
Y89* |
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,905,024 (GRCm39) |
F919S |
probably damaging |
Het |
| Cntrl |
C |
T |
2: 35,045,440 (GRCm39) |
H1383Y |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,592 (GRCm39) |
S1037P |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,659,813 (GRCm39) |
S380T |
probably benign |
Het |
| Cyrib |
G |
A |
15: 63,828,490 (GRCm39) |
T11I |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,238,022 (GRCm39) |
S323T |
probably benign |
Het |
| Dicer1 |
G |
T |
12: 104,662,803 (GRCm39) |
Q1593K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,078,863 (GRCm39) |
I2367V |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,086,588 (GRCm39) |
S184P |
possibly damaging |
Het |
| Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,114,702 (GRCm39) |
M914K |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,068,784 (GRCm39) |
E37G |
probably damaging |
Het |
| Fyco1 |
G |
T |
9: 123,657,715 (GRCm39) |
Y820* |
probably null |
Het |
| Gipr |
T |
C |
7: 18,896,859 (GRCm39) |
Y137C |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,536,181 (GRCm39) |
V148A |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,685 (GRCm39) |
V79A |
probably damaging |
Het |
| Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
| Inpp4b |
A |
C |
8: 82,772,896 (GRCm39) |
E730A |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,286,858 (GRCm39) |
T579I |
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,840,608 (GRCm39) |
M1201L |
probably benign |
Het |
| Mdh1 |
G |
A |
11: 21,508,538 (GRCm39) |
S268L |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,103 (GRCm39) |
T314S |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,731 (GRCm39) |
Q233R |
probably benign |
Het |
| Or11g1 |
T |
C |
14: 50,651,372 (GRCm39) |
F124L |
probably benign |
Het |
| Or5w17 |
T |
C |
2: 87,584,127 (GRCm39) |
D70G |
possibly damaging |
Het |
| Paqr5 |
T |
A |
9: 61,863,438 (GRCm39) |
I295L |
probably benign |
Het |
| Peg10 |
C |
T |
6: 4,756,560 (GRCm39) |
H379Y |
unknown |
Het |
| Phtf2 |
A |
T |
5: 21,018,242 (GRCm39) |
I33N |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,553,977 (GRCm39) |
M115V |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,003,576 (GRCm39) |
Y431H |
possibly damaging |
Het |
| Prph2 |
GT |
G |
17: 47,222,039 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
C |
T |
1: 86,055,960 (GRCm39) |
P774L |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,247,340 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,304,977 (GRCm39) |
D770G |
possibly damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,087 (GRCm39) |
L439P |
probably damaging |
Het |
| Slitrk6 |
TTTTAGTCTGTTCTACCAACACCTT |
TTT |
14: 110,987,257 (GRCm39) |
|
probably null |
Het |
| Sox6 |
T |
C |
7: 115,196,744 (GRCm39) |
I295M |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,586 (GRCm39) |
M4475V |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,929,637 (GRCm39) |
D301E |
probably benign |
Het |
| Tas2r117 |
G |
A |
6: 132,780,014 (GRCm39) |
V51I |
possibly damaging |
Het |
| Tbx2 |
C |
T |
11: 85,725,561 (GRCm39) |
R171C |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,402,955 (GRCm39) |
I320V |
probably benign |
Het |
| Tjp3 |
C |
A |
10: 81,115,091 (GRCm39) |
G396W |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,400,460 (GRCm39) |
N4D |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,071 (GRCm39) |
N165D |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,802 (GRCm39) |
Y138F |
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,632,817 (GRCm39) |
S267P |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,940,328 (GRCm39) |
L803* |
probably null |
Het |
| Zbbx |
T |
A |
3: 75,043,794 (GRCm39) |
D35V |
probably damaging |
Het |
| Zscan12 |
T |
G |
13: 21,552,744 (GRCm39) |
N189K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGATTACTCCTGCCACTG -3'
(R):5'- ACTCGTTCAGGTCTGAGCAAAG -3'
Sequencing Primer
(F):5'- ACTGCAACGCTGGCTAC -3'
(R):5'- TCTGAGCAAAGACAGGGTGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation