Incidental Mutation 'IGL01017:Sh3pxd2b'
| ID |
53878 |
| 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 # |
IGL01017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
32297820-32378173 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 32353993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 187
(S187*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038753]
|
| AlphaFold |
A2AAY5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038753
AA Change: S187*
|
| SMART Domains |
Protein: ENSMUSP00000044276
Gene: ENSMUSG00000040711
AA Change: S187*
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
G |
A |
5: 88,607,218 (GRCm39) |
A29T |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,467 (GRCm39) |
K795R |
probably damaging |
Het |
| Atg3 |
T |
C |
16: 45,004,174 (GRCm39) |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,078,739 (GRCm39) |
V200A |
possibly damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,564 (GRCm39) |
Q141K |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,715,988 (GRCm39) |
I93F |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,171,287 (GRCm39) |
L372S |
probably damaging |
Het |
| Elovl5 |
T |
C |
9: 77,888,853 (GRCm39) |
I240T |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,510,186 (GRCm39) |
A728V |
possibly damaging |
Het |
| Fbln1 |
A |
G |
15: 85,128,390 (GRCm39) |
D529G |
possibly damaging |
Het |
| Flnb |
G |
T |
14: 7,917,390 (GRCm38) |
|
probably benign |
Het |
| Gm14401 |
A |
T |
2: 176,778,625 (GRCm39) |
H237L |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,956,443 (GRCm39) |
H1586Q |
probably damaging |
Het |
| Igkv12-98 |
T |
A |
6: 68,548,093 (GRCm39) |
L74* |
probably null |
Het |
| Iigp1c |
T |
A |
18: 60,378,508 (GRCm39) |
D14E |
possibly damaging |
Het |
| Ktn1 |
T |
C |
14: 47,946,335 (GRCm39) |
S917P |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,574,200 (GRCm39) |
|
probably null |
Het |
| Lamb1 |
A |
G |
12: 31,351,063 (GRCm39) |
D723G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,364,500 (GRCm39) |
R130S |
probably benign |
Het |
| Mcm3 |
A |
C |
1: 20,875,039 (GRCm39) |
|
probably null |
Het |
| Muc19 |
T |
G |
15: 91,764,901 (GRCm39) |
|
noncoding transcript |
Het |
| Necap2 |
A |
G |
4: 140,794,879 (GRCm39) |
F266S |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 53,122,055 (GRCm39) |
G283D |
probably damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,021,092 (GRCm39) |
K526N |
possibly damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,389 (GRCm39) |
T166A |
probably benign |
Het |
| Or4p7 |
T |
A |
2: 88,222,245 (GRCm39) |
V218E |
possibly damaging |
Het |
| Pelp1 |
G |
A |
11: 70,287,720 (GRCm39) |
R401W |
probably damaging |
Het |
| Phldb3 |
G |
T |
7: 24,328,295 (GRCm39) |
C613F |
probably damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,243,110 (GRCm39) |
Y93H |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,476 (GRCm39) |
E105G |
probably benign |
Het |
| Prb1a |
G |
T |
6: 132,184,194 (GRCm39) |
Q480K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,781,968 (GRCm39) |
I2007N |
probably damaging |
Het |
| Scgb1b27 |
A |
G |
7: 33,721,228 (GRCm39) |
T39A |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,187 (GRCm39) |
D359G |
probably benign |
Het |
| Sgo2b |
G |
T |
8: 64,379,557 (GRCm39) |
R1092S |
probably benign |
Het |
| Slc11a1 |
T |
A |
1: 74,418,955 (GRCm39) |
L92H |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,617,758 (GRCm39) |
V585A |
probably damaging |
Het |
| Sp6 |
A |
G |
11: 96,913,429 (GRCm39) |
|
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,894,871 (GRCm39) |
I307F |
possibly damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,359 (GRCm39) |
H33L |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,912,782 (GRCm39) |
D1642E |
probably damaging |
Het |
| Ttc1 |
T |
C |
11: 43,621,320 (GRCm39) |
N287S |
probably damaging |
Het |
| Ttc9 |
G |
A |
12: 81,678,536 (GRCm39) |
V120I |
possibly damaging |
Het |
| Umps |
A |
G |
16: 33,787,272 (GRCm39) |
V27A |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,551,334 (GRCm39) |
M48I |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,309 (GRCm39) |
C267S |
possibly damaging |
Het |
| Wee1 |
A |
T |
7: 109,725,055 (GRCm39) |
D275V |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 126,982,152 (GRCm39) |
P63L |
probably benign |
Het |
|
| Other mutations in Sh3pxd2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-28 |
Incidental Mutation