Incidental Mutation 'IGL03299:Sh3pxd2b'
ID |
416191 |
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 # |
IGL03299
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
32297820-32378173 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 32361448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044276
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038753]
|
AlphaFold |
A2AAY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038753
|
SMART Domains |
Protein: ENSMUSP00000044276 Gene: ENSMUSG00000040711
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 |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
A |
G |
X: 126,303,476 (GRCm39) |
|
probably benign |
Het |
Abca17 |
A |
T |
17: 24,484,565 (GRCm39) |
C1566S |
probably damaging |
Het |
Akr1cl |
A |
T |
1: 65,063,874 (GRCm39) |
L105H |
probably damaging |
Het |
Ano1 |
A |
G |
7: 144,207,993 (GRCm39) |
F256S |
probably damaging |
Het |
Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
Cers6 |
T |
A |
2: 68,692,128 (GRCm39) |
M50K |
probably benign |
Het |
Dnah1 |
G |
A |
14: 31,037,079 (GRCm39) |
Q256* |
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,585,644 (GRCm39) |
E852K |
possibly damaging |
Het |
Fars2 |
C |
T |
13: 36,721,384 (GRCm39) |
Q443* |
probably null |
Het |
Glb1l3 |
T |
C |
9: 26,770,748 (GRCm39) |
N106S |
probably damaging |
Het |
Haus7 |
T |
C |
X: 72,496,670 (GRCm39) |
|
probably null |
Het |
Hectd1 |
C |
T |
12: 51,847,671 (GRCm39) |
|
probably benign |
Het |
Hyal5 |
G |
T |
6: 24,877,881 (GRCm39) |
G326C |
probably damaging |
Het |
Ibtk |
A |
T |
9: 85,603,189 (GRCm39) |
D605E |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,649,125 (GRCm39) |
L415P |
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
Muc5b |
A |
G |
7: 141,395,117 (GRCm39) |
D41G |
unknown |
Het |
Mxra7 |
A |
G |
11: 116,695,360 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,249,207 (GRCm39) |
T1366A |
probably damaging |
Het |
Nmd3 |
C |
T |
3: 69,637,762 (GRCm39) |
|
probably null |
Het |
Or6c206 |
T |
C |
10: 129,097,196 (GRCm39) |
V122A |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,727,118 (GRCm39) |
N546S |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,371,247 (GRCm39) |
T139A |
possibly damaging |
Het |
Rarb |
T |
C |
14: 16,434,168 (GRCm38) |
K337E |
probably damaging |
Het |
Rps6ka4 |
C |
T |
19: 6,809,615 (GRCm39) |
|
probably benign |
Het |
Scamp2 |
A |
G |
9: 57,485,023 (GRCm39) |
|
probably null |
Het |
Scn3a |
T |
A |
2: 65,327,860 (GRCm39) |
M877L |
probably benign |
Het |
Slc22a29 |
C |
T |
19: 8,140,012 (GRCm39) |
|
probably null |
Het |
Slc34a1 |
T |
C |
13: 24,005,094 (GRCm39) |
|
probably null |
Het |
Srbd1 |
A |
T |
17: 86,428,087 (GRCm39) |
I382N |
possibly damaging |
Het |
Tm7sf2 |
T |
C |
19: 6,112,958 (GRCm39) |
I387M |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,125,731 (GRCm39) |
E311* |
probably null |
Het |
Zc3h13 |
G |
A |
14: 75,531,381 (GRCm39) |
R93H |
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 |
IGL03378:Sh3pxd2b
|
APN |
11 |
32,331,443 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |