Incidental Mutation 'R6625:Sh3pxd2b'
ID |
524752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2b
|
Ensembl Gene |
ENSMUSG00000040711 |
Gene Name |
SH3 and PX domains 2B |
Synonyms |
Tks4, Fad49, G431001E03Rik |
MMRRC Submission |
044747-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.348)
|
Stock # |
R6625 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
32297820-32378173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32372594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 587
(L587Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044276
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038753]
|
AlphaFold |
A2AAY5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038753
AA Change: L587Q
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044276 Gene: ENSMUSG00000040711 AA Change: L587Q
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 |
|
Meta Mutation Damage Score |
0.0723 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
91% (30/33) |
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 |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATATGAGGAGATCTCGGACCC -3'
(R):5'- TGGTTTGGGCCTAACCTGAG -3'
Sequencing Primer
(F):5'- AGAGTCCATCATCAAGTCTGAAG -3'
(R):5'- CCTGAGGTCTAGACTTCATGAACAG -3'
|
Posted On |
2018-06-22 |