Incidental Mutation 'R8948:Sh3pxd2a'
ID |
681490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
068786-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8948 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47361882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 83
(R83G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
AlphaFold |
O89032 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081619
AA Change: R83G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: R83G
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 |
possibly damaging
Transcript: ENSMUST00000111800
AA Change: R83G
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: R83G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
T |
C |
16: 8,418,805 (GRCm39) |
I102T |
possibly damaging |
Het |
Abca9 |
T |
C |
11: 110,054,206 (GRCm39) |
|
probably null |
Het |
Ago3 |
T |
C |
4: 126,244,115 (GRCm39) |
|
probably null |
Het |
Akap1 |
G |
T |
11: 88,735,099 (GRCm39) |
A75E |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,041,012 (GRCm39) |
A227E |
possibly damaging |
Het |
Bmpr1a |
G |
T |
14: 34,163,148 (GRCm39) |
H81N |
possibly damaging |
Het |
Camkv |
C |
T |
9: 107,824,296 (GRCm39) |
T236I |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,181,358 (GRCm39) |
E601G |
probably benign |
Het |
Ccin |
G |
A |
4: 43,984,064 (GRCm39) |
R157H |
probably damaging |
Het |
Cdkn3 |
C |
T |
14: 47,004,780 (GRCm39) |
P114L |
probably damaging |
Het |
Col6a2 |
C |
T |
10: 76,446,527 (GRCm39) |
G352D |
probably damaging |
Het |
Csf2rb |
A |
T |
15: 78,232,520 (GRCm39) |
D609V |
probably benign |
Het |
Ctc1 |
T |
G |
11: 68,917,175 (GRCm39) |
Y110* |
probably null |
Het |
D630023F18Rik |
T |
A |
1: 65,147,899 (GRCm39) |
N218I |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,408,212 (GRCm39) |
H1873Q |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,012,396 (GRCm39) |
D1901G |
probably damaging |
Het |
Eddm3b |
T |
A |
14: 51,354,110 (GRCm39) |
S33T |
probably damaging |
Het |
Efcc1 |
A |
G |
6: 87,728,768 (GRCm39) |
T408A |
probably benign |
Het |
Epas1 |
A |
G |
17: 87,134,920 (GRCm39) |
T518A |
probably benign |
Het |
Ergic2 |
A |
T |
6: 148,104,005 (GRCm39) |
M84K |
probably damaging |
Het |
Ergic3 |
T |
C |
2: 155,853,160 (GRCm39) |
V201A |
probably benign |
Het |
Espn |
C |
A |
4: 152,223,278 (GRCm39) |
W258L |
probably damaging |
Het |
Gm45337 |
A |
G |
7: 141,697,817 (GRCm39) |
S156P |
unknown |
Het |
Hmcn2 |
T |
C |
2: 31,244,741 (GRCm39) |
Y733H |
probably damaging |
Het |
Itga2 |
C |
T |
13: 115,009,866 (GRCm39) |
G363D |
probably damaging |
Het |
Kcnk5 |
T |
C |
14: 20,192,046 (GRCm39) |
R372G |
probably benign |
Het |
Khdc4 |
G |
T |
3: 88,617,219 (GRCm39) |
S506I |
probably damaging |
Het |
Kif11 |
T |
A |
19: 37,386,602 (GRCm39) |
D387E |
probably damaging |
Het |
Lrrn2 |
A |
C |
1: 132,866,104 (GRCm39) |
I390L |
probably benign |
Het |
Map2 |
G |
T |
1: 66,419,684 (GRCm39) |
R5L |
probably damaging |
Het |
Muc16 |
C |
T |
9: 18,558,529 (GRCm39) |
R2588K |
unknown |
Het |
Or3a10 |
A |
G |
11: 73,935,782 (GRCm39) |
F106S |
possibly damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,445 (GRCm39) |
I32F |
probably damaging |
Het |
Or7g29 |
A |
G |
9: 19,286,262 (GRCm39) |
I305T |
probably benign |
Het |
Osbpl8 |
T |
C |
10: 111,103,530 (GRCm39) |
I178T |
probably damaging |
Het |
Pak2 |
A |
T |
16: 31,852,729 (GRCm39) |
|
probably benign |
Het |
Perp |
A |
T |
10: 18,729,326 (GRCm39) |
I86F |
possibly damaging |
Het |
Plpp1 |
A |
T |
13: 112,993,511 (GRCm39) |
I149F |
probably damaging |
Het |
Polr1f |
T |
A |
12: 33,483,526 (GRCm39) |
Y93N |
probably damaging |
Het |
Preb |
A |
G |
5: 31,115,671 (GRCm39) |
S220P |
probably damaging |
Het |
Prrt4 |
T |
C |
6: 29,177,665 (GRCm39) |
T35A |
probably damaging |
Het |
Ror2 |
T |
A |
13: 53,286,032 (GRCm39) |
I73F |
possibly damaging |
Het |
Rpl36-ps4 |
A |
G |
17: 88,228,574 (GRCm39) |
T40A |
probably damaging |
Het |
Rsbn1 |
A |
T |
3: 103,868,830 (GRCm39) |
H623L |
possibly damaging |
Het |
Sap30 |
C |
A |
8: 57,940,456 (GRCm39) |
A49S |
possibly damaging |
Het |
Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
Slc35e1 |
A |
T |
8: 73,246,042 (GRCm39) |
I130N |
probably damaging |
Het |
Smchd1 |
C |
T |
17: 71,743,767 (GRCm39) |
R466Q |
probably damaging |
Het |
Smgc |
C |
T |
15: 91,722,565 (GRCm39) |
|
probably benign |
Het |
Stk32b |
A |
T |
5: 37,612,341 (GRCm39) |
N348K |
possibly damaging |
Het |
Sult2a1 |
A |
G |
7: 13,530,342 (GRCm39) |
F266L |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,467,484 (GRCm39) |
M1L |
probably damaging |
Het |
Telo2 |
A |
G |
17: 25,332,085 (GRCm39) |
V161A |
probably benign |
Het |
Tmed11 |
C |
T |
5: 108,925,293 (GRCm39) |
R173H |
probably damaging |
Het |
Trappc6a |
G |
A |
7: 19,249,923 (GRCm39) |
|
probably benign |
Het |
Vmn2r5 |
A |
T |
3: 64,398,522 (GRCm39) |
V819D |
probably damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,606,569 (GRCm39) |
I259T |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,723,340 (GRCm39) |
I286T |
probably damaging |
Het |
Vsig10l |
A |
T |
7: 43,117,623 (GRCm39) |
I739F |
possibly damaging |
Het |
Zfyve1 |
A |
C |
12: 83,594,802 (GRCm39) |
V730G |
probably benign |
Het |
Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly damaging |
Het |
Zmym4 |
C |
T |
4: 126,758,060 (GRCm39) |
R1498H |
probably damaging |
Het |
Znhit2 |
A |
T |
19: 6,111,803 (GRCm39) |
R183* |
probably null |
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 |
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 |
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'- TGACTGATCCCAAGTGACAGTC -3'
(R):5'- TGTTCATAGAAGCCCAAGATGG -3'
Sequencing Primer
(F):5'- GTGACAGTCACTCCACACC -3'
(R):5'- AAGATGGCAGCCTCCAGG -3'
|
Posted On |
2021-08-31 |