Incidental Mutation 'R0045:Sh3pxd2a'
ID |
218403 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
038339-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0045 (G1)
|
Quality Score |
74 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47255622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1032
(I1032T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
AlphaFold |
O89032 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081619
AA Change: I1060T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: I1060T
Domain | Start | End | E-Value | Type |
PX
|
3 |
124 |
3.6e-32 |
SMART |
SH3
|
169 |
224 |
3.24e-16 |
SMART |
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
SH3
|
269 |
324 |
6.49e-16 |
SMART |
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
SH3
|
450 |
505 |
4.49e-10 |
SMART |
low complexity region
|
519 |
537 |
N/A |
INTRINSIC |
low complexity region
|
632 |
652 |
N/A |
INTRINSIC |
low complexity region
|
654 |
676 |
N/A |
INTRINSIC |
low complexity region
|
685 |
709 |
N/A |
INTRINSIC |
SH3
|
836 |
891 |
2.41e-10 |
SMART |
SH3
|
1066 |
1124 |
3.85e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111800
AA Change: I1032T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: I1032T
Domain | Start | End | E-Value | Type |
PX
|
3 |
124 |
3.6e-32 |
SMART |
SH3
|
169 |
224 |
3.24e-16 |
SMART |
SH3
|
241 |
296 |
6.49e-16 |
SMART |
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
SH3
|
422 |
477 |
4.49e-10 |
SMART |
low complexity region
|
491 |
509 |
N/A |
INTRINSIC |
low complexity region
|
604 |
624 |
N/A |
INTRINSIC |
low complexity region
|
626 |
648 |
N/A |
INTRINSIC |
low complexity region
|
657 |
681 |
N/A |
INTRINSIC |
SH3
|
808 |
863 |
2.41e-10 |
SMART |
SH3
|
1038 |
1096 |
3.85e-9 |
SMART |
|
Meta Mutation Damage Score |
0.3203 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
Validation Efficiency |
100% (75/75) |
MGI Phenotype |
PHENOTYPE: Homozygous disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,220,148 (GRCm39) |
N299S |
probably damaging |
Het |
Abi3 |
A |
G |
11: 95,723,541 (GRCm39) |
*368R |
probably null |
Het |
Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
Arvcf |
T |
A |
16: 18,222,208 (GRCm39) |
L722Q |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
Atg9b |
G |
T |
5: 24,592,396 (GRCm39) |
Q621K |
probably damaging |
Het |
Atp12a |
G |
A |
14: 56,610,330 (GRCm39) |
E234K |
probably damaging |
Het |
C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,096,365 (GRCm39) |
K1578E |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
Commd10 |
T |
C |
18: 47,100,903 (GRCm39) |
S114P |
possibly damaging |
Het |
Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
Egr2 |
T |
A |
10: 67,376,310 (GRCm39) |
V252E |
probably benign |
Het |
Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
Gm10840 |
C |
A |
11: 106,051,926 (GRCm39) |
|
probably benign |
Het |
Gpr37l1 |
A |
G |
1: 135,088,883 (GRCm39) |
L394P |
probably damaging |
Het |
Gsap |
T |
C |
5: 21,431,830 (GRCm39) |
M243T |
possibly damaging |
Het |
Hsd3b5 |
T |
A |
3: 98,526,460 (GRCm39) |
I329F |
probably benign |
Het |
Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
Il17b |
G |
A |
18: 61,823,315 (GRCm39) |
V50M |
probably damaging |
Het |
Itga4 |
A |
T |
2: 79,131,375 (GRCm39) |
Y581F |
probably damaging |
Het |
Jmjd8 |
A |
G |
17: 26,048,255 (GRCm39) |
E92G |
probably damaging |
Het |
Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
Klhl42 |
A |
G |
6: 146,993,666 (GRCm39) |
T213A |
probably benign |
Het |
Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
Lrrd1 |
A |
G |
5: 3,916,418 (GRCm39) |
K812E |
possibly damaging |
Het |
Ltbp2 |
T |
C |
12: 84,860,062 (GRCm39) |
T631A |
probably damaging |
Het |
Ltbp2 |
G |
A |
12: 84,856,361 (GRCm39) |
T701I |
probably damaging |
Het |
Mavs |
G |
A |
2: 131,080,751 (GRCm39) |
R13Q |
probably damaging |
Het |
Mtor |
C |
G |
4: 148,549,406 (GRCm39) |
H597D |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,410,555 (GRCm39) |
H1309Q |
unknown |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Nnat |
A |
T |
2: 157,402,408 (GRCm39) |
|
probably benign |
Het |
Or14c40 |
T |
C |
7: 86,313,548 (GRCm39) |
L226S |
possibly damaging |
Het |
Or2ag19 |
T |
A |
7: 106,444,596 (GRCm39) |
Y259* |
probably null |
Het |
Or5h17 |
G |
A |
16: 58,820,854 (GRCm39) |
D269N |
probably benign |
Het |
Or7e175 |
A |
T |
9: 20,048,487 (GRCm39) |
Q25L |
probably benign |
Het |
Pclo |
C |
T |
5: 14,589,485 (GRCm39) |
A595V |
unknown |
Het |
Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
Pkd2 |
T |
A |
5: 104,603,671 (GRCm39) |
|
probably benign |
Het |
Ppp2r3c |
T |
A |
12: 55,340,606 (GRCm39) |
I155F |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
Ripor2 |
A |
G |
13: 24,878,209 (GRCm39) |
D328G |
probably damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
Slc25a13 |
A |
T |
6: 6,109,277 (GRCm39) |
S362T |
probably benign |
Het |
Stk35 |
A |
T |
2: 129,642,488 (GRCm39) |
R10* |
probably null |
Het |
Tal1 |
A |
G |
4: 114,925,762 (GRCm39) |
D277G |
probably damaging |
Het |
Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
Trp53bp1 |
A |
C |
2: 121,034,978 (GRCm39) |
V103G |
probably benign |
Het |
Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
Ttll5 |
T |
G |
12: 85,926,133 (GRCm39) |
|
probably benign |
Het |
Usp8 |
A |
G |
2: 126,584,143 (GRCm39) |
T451A |
probably benign |
Het |
Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
Vars1 |
C |
A |
17: 35,217,042 (GRCm39) |
A471S |
probably benign |
Het |
Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
Vmn2r70 |
T |
C |
7: 85,215,252 (GRCm39) |
N94S |
probably damaging |
Het |
Vpreb1b |
T |
C |
16: 17,798,631 (GRCm39) |
L39P |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
Wapl |
A |
G |
14: 34,455,751 (GRCm39) |
I176V |
probably benign |
Het |
Wdr31 |
G |
T |
4: 62,382,270 (GRCm39) |
L4I |
possibly damaging |
Het |
|
Other mutations in Sh3pxd2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00900:Sh3pxd2a
|
APN |
19 |
47,302,594 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01606:Sh3pxd2a
|
APN |
19 |
47,257,035 (GRCm39) |
missense |
probably benign |
|
IGL02001:Sh3pxd2a
|
APN |
19 |
47,261,886 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02060:Sh3pxd2a
|
APN |
19 |
47,361,817 (GRCm39) |
splice site |
probably benign |
|
IGL02830:Sh3pxd2a
|
APN |
19 |
47,271,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03240:Sh3pxd2a
|
APN |
19 |
47,256,465 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03263:Sh3pxd2a
|
APN |
19 |
47,302,482 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03290:Sh3pxd2a
|
APN |
19 |
47,412,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Sh3pxd2a
|
UTSW |
19 |
47,255,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R0504:Sh3pxd2a
|
UTSW |
19 |
47,256,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R0683:Sh3pxd2a
|
UTSW |
19 |
47,255,950 (GRCm39) |
missense |
probably benign |
0.04 |
R0726:Sh3pxd2a
|
UTSW |
19 |
47,257,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Sh3pxd2a
|
UTSW |
19 |
47,256,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R1276:Sh3pxd2a
|
UTSW |
19 |
47,256,822 (GRCm39) |
missense |
probably benign |
|
R1349:Sh3pxd2a
|
UTSW |
19 |
47,256,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R1372:Sh3pxd2a
|
UTSW |
19 |
47,256,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R1525:Sh3pxd2a
|
UTSW |
19 |
47,266,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Sh3pxd2a
|
UTSW |
19 |
47,266,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1664:Sh3pxd2a
|
UTSW |
19 |
47,256,821 (GRCm39) |
missense |
probably benign |
0.02 |
R1766:Sh3pxd2a
|
UTSW |
19 |
47,261,689 (GRCm39) |
missense |
probably benign |
0.01 |
R1931:Sh3pxd2a
|
UTSW |
19 |
47,255,947 (GRCm39) |
missense |
probably benign |
0.00 |
R1932:Sh3pxd2a
|
UTSW |
19 |
47,255,947 (GRCm39) |
missense |
probably benign |
0.00 |
R2024:Sh3pxd2a
|
UTSW |
19 |
47,255,703 (GRCm39) |
missense |
probably benign |
0.35 |
R2165:Sh3pxd2a
|
UTSW |
19 |
47,266,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R2210:Sh3pxd2a
|
UTSW |
19 |
47,255,782 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2567:Sh3pxd2a
|
UTSW |
19 |
47,413,008 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4097:Sh3pxd2a
|
UTSW |
19 |
47,412,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R4466:Sh3pxd2a
|
UTSW |
19 |
47,353,146 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4788:Sh3pxd2a
|
UTSW |
19 |
47,302,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R4885:Sh3pxd2a
|
UTSW |
19 |
47,257,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R4939:Sh3pxd2a
|
UTSW |
19 |
47,266,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R5184:Sh3pxd2a
|
UTSW |
19 |
47,261,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5340:Sh3pxd2a
|
UTSW |
19 |
47,256,670 (GRCm39) |
missense |
probably benign |
0.36 |
R5673:Sh3pxd2a
|
UTSW |
19 |
47,257,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R5925:Sh3pxd2a
|
UTSW |
19 |
47,256,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Sh3pxd2a
|
UTSW |
19 |
47,353,077 (GRCm39) |
missense |
probably benign |
0.16 |
R6120:Sh3pxd2a
|
UTSW |
19 |
47,255,848 (GRCm39) |
missense |
probably damaging |
0.99 |
R6432:Sh3pxd2a
|
UTSW |
19 |
47,258,366 (GRCm39) |
missense |
probably damaging |
0.99 |
R6650:Sh3pxd2a
|
UTSW |
19 |
47,256,663 (GRCm39) |
missense |
probably benign |
0.00 |
R6700:Sh3pxd2a
|
UTSW |
19 |
47,353,146 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6831:Sh3pxd2a
|
UTSW |
19 |
47,271,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R7015:Sh3pxd2a
|
UTSW |
19 |
47,256,562 (GRCm39) |
missense |
probably benign |
0.00 |
R7225:Sh3pxd2a
|
UTSW |
19 |
47,255,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R7449:Sh3pxd2a
|
UTSW |
19 |
47,256,091 (GRCm39) |
missense |
probably benign |
|
R7695:Sh3pxd2a
|
UTSW |
19 |
47,256,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R7904:Sh3pxd2a
|
UTSW |
19 |
47,308,753 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8143:Sh3pxd2a
|
UTSW |
19 |
47,257,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R8268:Sh3pxd2a
|
UTSW |
19 |
47,256,033 (GRCm39) |
missense |
probably benign |
|
R8290:Sh3pxd2a
|
UTSW |
19 |
47,302,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Sh3pxd2a
|
UTSW |
19 |
47,258,277 (GRCm39) |
missense |
probably null |
0.72 |
R8350:Sh3pxd2a
|
UTSW |
19 |
47,257,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Sh3pxd2a
|
UTSW |
19 |
47,275,073 (GRCm39) |
missense |
probably benign |
0.01 |
R8767:Sh3pxd2a
|
UTSW |
19 |
47,257,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R8948:Sh3pxd2a
|
UTSW |
19 |
47,361,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R9357:Sh3pxd2a
|
UTSW |
19 |
47,260,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R9433:Sh3pxd2a
|
UTSW |
19 |
47,255,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R9515:Sh3pxd2a
|
UTSW |
19 |
47,255,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R9748:Sh3pxd2a
|
UTSW |
19 |
47,257,093 (GRCm39) |
missense |
probably benign |
|
V3553:Sh3pxd2a
|
UTSW |
19 |
47,255,658 (GRCm39) |
missense |
probably benign |
0.12 |
X0013:Sh3pxd2a
|
UTSW |
19 |
47,256,303 (GRCm39) |
missense |
probably benign |
0.01 |
X0026:Sh3pxd2a
|
UTSW |
19 |
47,452,589 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCACGATTAGGCTTTTCCCAC -3'
(R):5'- TGTCCGCAGGAACTCCTCCTTTAG -3'
Sequencing Primer
(F):5'- CATGGCCTGTGCTAAATGAC -3'
(R):5'- TTTAGCACCGCACGGTCAG -3'
|
Posted On |
2014-08-06 |