Incidental Mutation 'RF022:Sh3pxd2b'
| ID |
603953 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF022 (G1)
|
| Quality Score |
214.791 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
32297820-32378173 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCTGT to GCCTGTTCCTGT
at 32373054 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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
GTACT |
GTACTACT |
12: 110,634,877 (GRCm39) |
|
probably null |
Het |
| Acap3 |
CCTGGGCTGCTG |
CCTGGGCTGCTGCATACTGGGCTGCTG |
4: 155,989,553 (GRCm39) |
|
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,455,289 (GRCm39) |
E702V |
possibly damaging |
Het |
| Arpc3 |
A |
G |
5: 122,538,489 (GRCm39) |
T7A |
probably benign |
Het |
| Bcl3 |
G |
A |
7: 19,542,966 (GRCm39) |
P393L |
probably damaging |
Het |
| Ceacam9 |
A |
G |
7: 16,459,304 (GRCm39) |
D201G |
possibly damaging |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
| Clgn |
A |
G |
8: 84,152,235 (GRCm39) |
K579R |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 46,998,599 (GRCm39) |
R884W |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,954,207 (GRCm39) |
D377E |
probably damaging |
Het |
| Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
| D5Ertd579e |
A |
C |
5: 36,772,006 (GRCm39) |
I796M |
probably damaging |
Het |
| Dmkn |
GGTGGAAGTGGTGGAAG |
GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG |
7: 30,466,600 (GRCm39) |
|
probably benign |
Het |
| Dpagt1 |
G |
T |
9: 44,243,262 (GRCm39) |
V266L |
possibly damaging |
Het |
| Ebf3 |
C |
A |
7: 136,915,671 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,522,691 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CACTCCTGGTGT |
CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT |
17: 23,981,141 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,600 (GRCm39) |
|
probably null |
Het |
| Golga4 |
A |
G |
9: 118,387,057 (GRCm39) |
D1393G |
probably damaging |
Het |
| Gpc5 |
G |
A |
14: 115,789,688 (GRCm39) |
V521I |
probably damaging |
Het |
| Grik1 |
A |
T |
16: 87,693,225 (GRCm39) |
N859K |
|
Het |
| Insrr |
G |
A |
3: 87,711,792 (GRCm39) |
A511T |
possibly damaging |
Het |
| Isx |
A |
G |
8: 75,600,474 (GRCm39) |
D69G |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Lkaaear1 |
CAGCTCCAG |
CAGCTCCAGGTCGAGCTCCAG |
2: 181,339,370 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,029,841 (GRCm39) |
E915G |
unknown |
Het |
| Maml3 |
A |
G |
3: 51,764,083 (GRCm39) |
S294P |
probably damaging |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
| Mef2d |
A |
T |
3: 88,075,574 (GRCm39) |
T486S |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,053,689 (GRCm39) |
V139A |
possibly damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2z8 |
T |
G |
8: 72,812,468 (GRCm39) |
*315G |
probably null |
Het |
| Pdik1l |
GTTTTTGTTTT |
GTTTTTGTTTTTTTTTTGTTTT |
4: 134,006,678 (GRCm39) |
|
probably null |
Het |
| Pnma8a |
TCATGATGCACCTGCTTCAACATC |
TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC |
7: 16,695,352 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,296,817 (GRCm39) |
L177P |
probably damaging |
Het |
| Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,102,467 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,552,367 (GRCm39) |
F966L |
probably benign |
Het |
| Rad17 |
A |
G |
13: 100,773,593 (GRCm39) |
L132S |
probably damaging |
Het |
| Raph1 |
GG |
GGGGG |
1: 60,528,426 (GRCm39) |
|
probably benign |
Het |
| Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
| Rwdd2b |
C |
T |
16: 87,233,558 (GRCm39) |
A181T |
probably benign |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
| Sla |
C |
T |
15: 66,654,593 (GRCm39) |
G231D |
probably benign |
Het |
| Tcof1 |
CAG |
CAGTAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCAACA |
17: 48,097,019 (GRCm39) |
|
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,902,092 (GRCm39) |
E192D |
probably damaging |
Het |
| Tmem123 |
A |
G |
9: 7,791,414 (GRCm39) |
Y171C |
probably damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,385 (GRCm39) |
A999V |
|
Het |
| Triobp |
C |
T |
15: 78,858,482 (GRCm39) |
P1361L |
probably benign |
Het |
| Ubac1 |
A |
T |
2: 25,895,470 (GRCm39) |
W328R |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,688,200 (GRCm39) |
N324S |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,939,472 (GRCm39) |
I407T |
possibly damaging |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- AGAAAGCCACCATGCTGCTG -3'
(R):5'- TCTTGGCCCACTGAGGAGTTAG -3'
Sequencing Primer
(F):5'- TGCTGGGAGCCATGACACAG -3'
(R):5'- CCCACTGAGGAGTTAGAGAGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation