Incidental Mutation 'IGL02412:Sh3pxd2b'
| ID |
294398 |
| 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 # |
IGL02412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
32297820-32378173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32337992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 99
(D99E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038753]
|
| AlphaFold |
A2AAY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038753
AA Change: D99E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: D99E
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
A |
6: 85,605,854 (GRCm39) |
F2032L |
possibly damaging |
Het |
| Caps2 |
T |
C |
10: 112,039,941 (GRCm39) |
|
probably null |
Het |
| Ccdc88b |
A |
T |
19: 6,824,012 (GRCm39) |
F1414I |
probably damaging |
Het |
| Cr1l |
T |
G |
1: 194,797,080 (GRCm39) |
Y319S |
probably damaging |
Het |
| Cr1l |
C |
T |
1: 194,797,074 (GRCm39) |
G283E |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,407,165 (GRCm39) |
|
probably benign |
Het |
| Dhx37 |
T |
A |
5: 125,508,692 (GRCm39) |
K81M |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,778,820 (GRCm39) |
M326L |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,652,849 (GRCm39) |
D488G |
probably benign |
Het |
| Gm2058 |
G |
A |
7: 39,238,457 (GRCm39) |
|
noncoding transcript |
Het |
| Gm43638 |
T |
A |
5: 87,633,995 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,469,307 (GRCm39) |
D119G |
probably damaging |
Het |
| Gnb3 |
A |
C |
6: 124,814,425 (GRCm39) |
M120R |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,301,899 (GRCm39) |
D74E |
probably benign |
Het |
| Kpna1 |
T |
C |
16: 35,851,561 (GRCm39) |
F382L |
probably benign |
Het |
| Krt33a |
G |
T |
11: 99,902,805 (GRCm39) |
Q340K |
probably benign |
Het |
| Lrrc17 |
T |
A |
5: 21,765,877 (GRCm39) |
S120T |
possibly damaging |
Het |
| Mapk3 |
C |
A |
7: 126,362,210 (GRCm39) |
Y56* |
probably null |
Het |
| Mfhas1 |
C |
T |
8: 36,055,969 (GRCm39) |
A148V |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,647,005 (GRCm39) |
I713V |
probably damaging |
Het |
| Obp1a |
T |
A |
X: 77,131,980 (GRCm39) |
Y108F |
probably damaging |
Het |
| Or51f1d |
A |
T |
7: 102,701,359 (GRCm39) |
M285L |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,555 (GRCm39) |
L13H |
probably damaging |
Het |
| Or6n1 |
T |
C |
1: 173,916,809 (GRCm39) |
F68L |
probably benign |
Het |
| Or7e178 |
T |
A |
9: 20,225,935 (GRCm39) |
S86C |
probably benign |
Het |
| Pias1 |
A |
T |
9: 62,800,421 (GRCm39) |
N430K |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,254,052 (GRCm39) |
A836D |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,245,497 (GRCm39) |
E238G |
probably benign |
Het |
| Samt4 |
T |
G |
X: 153,267,118 (GRCm39) |
S86A |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,379,842 (GRCm39) |
M1219T |
probably benign |
Het |
| Sh3rf1 |
A |
T |
8: 61,825,723 (GRCm39) |
T573S |
probably benign |
Het |
| Sugct |
A |
G |
13: 17,837,386 (GRCm39) |
W82R |
probably damaging |
Het |
| Syt4 |
T |
G |
18: 31,576,896 (GRCm39) |
K153Q |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,563,908 (GRCm39) |
|
probably null |
Het |
| Tex36 |
C |
T |
7: 133,189,137 (GRCm39) |
R145K |
probably benign |
Het |
| Tfap2b |
A |
T |
1: 19,289,427 (GRCm39) |
D166V |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,322,830 (GRCm39) |
Y694C |
probably damaging |
Het |
| Trpc1 |
G |
A |
9: 95,618,914 (GRCm39) |
L146F |
probably damaging |
Het |
| Ttc29 |
G |
A |
8: 79,003,569 (GRCm39) |
E262K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,547,293 (GRCm39) |
I32251N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,612,691 (GRCm39) |
D17129E |
probably benign |
Het |
| Ucma |
T |
A |
2: 4,981,636 (GRCm39) |
I47N |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,474 (GRCm39) |
K211M |
possibly damaging |
Het |
| Vmn2r95 |
A |
C |
17: 18,660,218 (GRCm39) |
H210P |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,476,767 (GRCm39) |
E444G |
probably benign |
Het |
| Yy1 |
T |
C |
12: 108,760,023 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,954,422 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,720,043 (GRCm39) |
Y1080* |
probably null |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation