Incidental Mutation 'IGL03378:Sh3pxd2b'
| ID |
420568 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3pxd2b
|
| Ensembl Gene |
ENSMUSG00000040711 |
| Gene Name |
SH3 and PX domains 2B |
| Synonyms |
Tks4, Fad49, G431001E03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
IGL03378
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
32297820-32378173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 32331443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 56
(L56V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038753]
|
| AlphaFold |
A2AAY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038753
AA Change: L56V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: L56V
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
5 |
125 |
2.65e-30 |
SMART |
|
SH3
|
155 |
210 |
1.11e-14 |
SMART |
|
SH3
|
224 |
279 |
3.78e-17 |
SMART |
|
SH3
|
371 |
426 |
2.33e-8 |
SMART |
|
low complexity region
|
525 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
772 |
N/A |
INTRINSIC |
|
SH3
|
850 |
908 |
5.75e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138771
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit abnormal craniofacial morphology, decreased bone density, impaired hearing secondary to otis media, reduced growth, size, and weight, and decreased white adipose tissue. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430069I07Rik |
T |
A |
15: 34,355,778 (GRCm39) |
I261N |
probably benign |
Het |
| Bace1 |
T |
A |
9: 45,770,199 (GRCm39) |
|
probably null |
Het |
| Caprin2 |
G |
T |
6: 148,779,352 (GRCm39) |
Q152K |
probably benign |
Het |
| Cdh16 |
C |
T |
8: 105,345,917 (GRCm39) |
D285N |
probably benign |
Het |
| Cnnm2 |
G |
A |
19: 46,866,473 (GRCm39) |
A874T |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,285,722 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
C |
7: 105,362,940 (GRCm39) |
E3834A |
possibly damaging |
Het |
| Erc2 |
A |
C |
14: 27,733,680 (GRCm39) |
S585R |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,819,005 (GRCm39) |
E269G |
probably damaging |
Het |
| Gpr161 |
T |
C |
1: 165,138,077 (GRCm39) |
L204P |
probably damaging |
Het |
| Hp |
A |
G |
8: 110,302,339 (GRCm39) |
V203A |
probably damaging |
Het |
| Krtap6-5 |
A |
T |
16: 88,844,677 (GRCm39) |
C19S |
unknown |
Het |
| Lce1i |
A |
T |
3: 92,685,033 (GRCm39) |
S48T |
unknown |
Het |
| Lrp2 |
A |
T |
2: 69,261,496 (GRCm39) |
S4482T |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,337,285 (GRCm39) |
|
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,886,915 (GRCm39) |
F31S |
probably damaging |
Het |
| Or4c100 |
T |
A |
2: 88,356,498 (GRCm39) |
Y190* |
probably null |
Het |
| Or8k18 |
T |
A |
2: 86,085,363 (GRCm39) |
I225L |
possibly damaging |
Het |
| Papola |
G |
T |
12: 105,775,692 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
C |
7: 89,159,352 (GRCm39) |
D239G |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,382,220 (GRCm39) |
T83A |
unknown |
Het |
| Ski |
A |
G |
4: 155,245,329 (GRCm39) |
S300P |
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,053,989 (GRCm39) |
S17P |
probably damaging |
Het |
| Svs5 |
C |
A |
2: 164,175,260 (GRCm39) |
H37Q |
probably benign |
Het |
| Tbx21 |
A |
G |
11: 97,005,567 (GRCm39) |
S133P |
probably benign |
Het |
| Tgfbr3 |
G |
T |
5: 107,257,568 (GRCm39) |
S830R |
probably damaging |
Het |
| Thsd1 |
A |
T |
8: 22,733,794 (GRCm39) |
K280N |
probably benign |
Het |
| Tnfrsf13c |
T |
A |
15: 82,108,513 (GRCm39) |
M1L |
probably benign |
Het |
| Ttll7 |
T |
C |
3: 146,615,408 (GRCm39) |
F291L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,599,907 (GRCm39) |
V10762A |
probably damaging |
Het |
|
| Other mutations in Sh3pxd2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Sh3pxd2b
|
APN |
11 |
32,353,993 (GRCm39) |
nonsense |
probably null |
|
|
IGL01581:Sh3pxd2b
|
APN |
11 |
32,337,973 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02067:Sh3pxd2b
|
APN |
11 |
32,373,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02412:Sh3pxd2b
|
APN |
11 |
32,337,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02930:Sh3pxd2b
|
APN |
11 |
32,367,161 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03299:Sh3pxd2b
|
APN |
11 |
32,361,448 (GRCm39) |
splice site |
probably benign |
|
|
FR4449:Sh3pxd2b
|
UTSW |
11 |
32,373,065 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Sh3pxd2b
|
UTSW |
11 |
32,373,065 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Sh3pxd2b
|
UTSW |
11 |
32,373,064 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Sh3pxd2b
|
UTSW |
11 |
32,373,060 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Sh3pxd2b
|
UTSW |
11 |
32,373,055 (GRCm39) |
small insertion |
probably benign |
|
|
R0097:Sh3pxd2b
|
UTSW |
11 |
32,353,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Sh3pxd2b
|
UTSW |
11 |
32,353,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Sh3pxd2b
|
UTSW |
11 |
32,373,023 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0715:Sh3pxd2b
|
UTSW |
11 |
32,373,341 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1456:Sh3pxd2b
|
UTSW |
11 |
32,365,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Sh3pxd2b
|
UTSW |
11 |
32,331,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1748:Sh3pxd2b
|
UTSW |
11 |
32,372,203 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1902:Sh3pxd2b
|
UTSW |
11 |
32,373,559 (GRCm39) |
makesense |
probably null |
|
|
R1977:Sh3pxd2b
|
UTSW |
11 |
32,372,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3761:Sh3pxd2b
|
UTSW |
11 |
32,372,750 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3850:Sh3pxd2b
|
UTSW |
11 |
32,361,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4060:Sh3pxd2b
|
UTSW |
11 |
32,372,263 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4062:Sh3pxd2b
|
UTSW |
11 |
32,372,263 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4064:Sh3pxd2b
|
UTSW |
11 |
32,372,263 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4585:Sh3pxd2b
|
UTSW |
11 |
32,346,479 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5278:Sh3pxd2b
|
UTSW |
11 |
32,331,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Sh3pxd2b
|
UTSW |
11 |
32,372,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5827:Sh3pxd2b
|
UTSW |
11 |
32,372,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5994:Sh3pxd2b
|
UTSW |
11 |
32,357,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6083:Sh3pxd2b
|
UTSW |
11 |
32,372,985 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6392:Sh3pxd2b
|
UTSW |
11 |
32,373,302 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6625:Sh3pxd2b
|
UTSW |
11 |
32,372,594 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6649:Sh3pxd2b
|
UTSW |
11 |
32,365,978 (GRCm39) |
splice site |
probably null |
|
|
R7056:Sh3pxd2b
|
UTSW |
11 |
32,372,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7131:Sh3pxd2b
|
UTSW |
11 |
32,372,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Sh3pxd2b
|
UTSW |
11 |
32,364,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Sh3pxd2b
|
UTSW |
11 |
32,321,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Sh3pxd2b
|
UTSW |
11 |
32,361,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Sh3pxd2b
|
UTSW |
11 |
32,372,210 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8555:Sh3pxd2b
|
UTSW |
11 |
32,361,469 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8939:Sh3pxd2b
|
UTSW |
11 |
32,364,433 (GRCm39) |
splice site |
probably benign |
|
|
R9003:Sh3pxd2b
|
UTSW |
11 |
32,361,571 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9090:Sh3pxd2b
|
UTSW |
11 |
32,373,361 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9271:Sh3pxd2b
|
UTSW |
11 |
32,373,361 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF016:Sh3pxd2b
|
UTSW |
11 |
32,373,053 (GRCm39) |
small insertion |
probably benign |
|
|
RF022:Sh3pxd2b
|
UTSW |
11 |
32,373,054 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Sh3pxd2b
|
UTSW |
11 |
32,373,057 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Sh3pxd2b
|
UTSW |
11 |
32,373,055 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Sh3pxd2b
|
UTSW |
11 |
32,373,055 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Sh3pxd2b
|
UTSW |
11 |
32,373,051 (GRCm39) |
small insertion |
probably benign |
|
|
X0017:Sh3pxd2b
|
UTSW |
11 |
32,364,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0028:Sh3pxd2b
|
UTSW |
11 |
32,373,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation