Incidental Mutation 'R8143:Sh3pxd2a'
ID |
632671 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
067571-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8143 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 47257138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 555
(P555S)
|
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: P555S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: P555S
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: P527S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: P527S
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: 99.7%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 85.9%
|
Validation Efficiency |
100% (65/65) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
C |
A |
2: 35,265,884 (GRCm39) |
C262F |
probably damaging |
Het |
Acss1 |
T |
C |
2: 150,509,801 (GRCm39) |
|
probably null |
Het |
Adamtsl1 |
T |
C |
4: 86,260,492 (GRCm39) |
V909A |
possibly damaging |
Het |
Adprh |
G |
A |
16: 38,270,694 (GRCm39) |
T37M |
probably benign |
Het |
Ak9 |
T |
A |
10: 41,213,588 (GRCm39) |
Y264* |
probably null |
Het |
Aox3 |
G |
T |
1: 58,198,074 (GRCm39) |
A629S |
probably benign |
Het |
Apcs |
G |
A |
1: 172,721,900 (GRCm39) |
P149S |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,377,294 (GRCm39) |
|
probably null |
Het |
Asb13 |
G |
A |
13: 3,692,065 (GRCm39) |
G15D |
probably damaging |
Het |
Bltp1 |
T |
G |
3: 37,000,657 (GRCm39) |
|
probably null |
Het |
Cacnb1 |
T |
G |
11: 97,894,146 (GRCm39) |
T459P |
probably benign |
Het |
Chrnb2 |
T |
C |
3: 89,654,630 (GRCm39) |
T718A |
unknown |
Het |
Cttn |
T |
A |
7: 144,014,999 (GRCm39) |
K70* |
probably null |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Cyp39a1 |
T |
C |
17: 44,036,517 (GRCm39) |
V349A |
probably benign |
Het |
Ebf2 |
C |
A |
14: 67,649,386 (GRCm39) |
Y430* |
probably null |
Het |
Eef2 |
T |
C |
10: 81,017,182 (GRCm39) |
Y730H |
probably damaging |
Het |
Eif2ak2 |
G |
A |
17: 79,165,961 (GRCm39) |
T412I |
probably benign |
Het |
Flnc |
G |
C |
6: 29,441,484 (GRCm39) |
R422P |
probably benign |
Het |
Fryl |
G |
A |
5: 73,207,682 (GRCm39) |
A2496V |
probably benign |
Het |
Galnt6 |
A |
G |
15: 100,614,088 (GRCm39) |
L71P |
probably damaging |
Het |
Gm7579 |
C |
T |
7: 141,766,163 (GRCm39) |
Q190* |
probably null |
Het |
H2-T3 |
T |
A |
17: 36,498,384 (GRCm39) |
R220S |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,734,957 (GRCm39) |
V185A |
probably benign |
Het |
Ifi208 |
T |
A |
1: 173,510,242 (GRCm39) |
D132E |
possibly damaging |
Het |
Itgb4 |
G |
A |
11: 115,884,255 (GRCm39) |
V981I |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,683,003 (GRCm39) |
T310A |
unknown |
Het |
Kat5 |
A |
G |
19: 5,657,577 (GRCm39) |
|
probably null |
Het |
Kif22 |
A |
T |
7: 126,632,397 (GRCm39) |
D304E |
probably damaging |
Het |
Mapre3 |
A |
T |
5: 31,020,719 (GRCm39) |
N147Y |
possibly damaging |
Het |
Morc2a |
T |
C |
11: 3,628,537 (GRCm39) |
V330A |
probably benign |
Het |
Mylk |
G |
A |
16: 34,734,525 (GRCm39) |
V709M |
possibly damaging |
Het |
Myo3a |
T |
G |
2: 22,287,476 (GRCm39) |
|
probably null |
Het |
N4bp2l2 |
A |
T |
5: 150,585,670 (GRCm39) |
D103E |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,336,530 (GRCm39) |
K1062R |
possibly damaging |
Het |
Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
Numa1 |
A |
G |
7: 101,648,891 (GRCm39) |
Q874R |
possibly damaging |
Het |
Olig3 |
T |
G |
10: 19,232,732 (GRCm39) |
V119G |
probably damaging |
Het |
Or7g34 |
A |
G |
9: 19,478,587 (GRCm39) |
V31A |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,922,906 (GRCm39) |
S485P |
probably benign |
Het |
Otogl |
A |
G |
10: 107,642,527 (GRCm39) |
F1301S |
probably damaging |
Het |
Pank3 |
A |
G |
11: 35,667,036 (GRCm39) |
Y51C |
probably damaging |
Het |
Pex5l |
T |
C |
3: 33,136,658 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
G |
A |
4: 99,824,415 (GRCm39) |
|
probably null |
Het |
Psmd9 |
T |
G |
5: 123,366,479 (GRCm39) |
I37S |
probably damaging |
Het |
Qtrt2 |
A |
G |
16: 43,692,117 (GRCm39) |
S135P |
probably damaging |
Het |
Rexo5 |
T |
A |
7: 119,433,484 (GRCm39) |
|
probably null |
Het |
Rsrp1 |
T |
A |
4: 134,654,319 (GRCm39) |
D286E |
probably benign |
Het |
Scara3 |
C |
T |
14: 66,169,269 (GRCm39) |
C116Y |
probably damaging |
Het |
Serpina3b |
A |
T |
12: 104,096,793 (GRCm39) |
T25S |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,568,230 (GRCm39) |
L89Q |
probably damaging |
Het |
Tgm6 |
T |
A |
2: 129,983,763 (GRCm39) |
N307K |
probably damaging |
Het |
Tmem86b |
G |
T |
7: 4,631,484 (GRCm39) |
D189E |
probably damaging |
Het |
Trim65 |
G |
A |
11: 116,017,287 (GRCm39) |
R392C |
probably benign |
Het |
Trpc7 |
T |
C |
13: 56,930,362 (GRCm39) |
T769A |
probably benign |
Het |
Trrap |
T |
A |
5: 144,772,707 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,693,677 (GRCm39) |
E397G |
possibly damaging |
Het |
Vcl |
A |
T |
14: 21,037,112 (GRCm39) |
M237L |
possibly damaging |
Het |
Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
Vmn2r23 |
A |
T |
6: 123,718,312 (GRCm39) |
D555V |
probably damaging |
Het |
Wnk4 |
A |
G |
11: 101,153,625 (GRCm39) |
N229S |
probably damaging |
Het |
Zfp784 |
A |
C |
7: 5,038,910 (GRCm39) |
V216G |
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 |
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 |
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'- AGATGGTCTCCTCTTCCAGG -3'
(R):5'- ATCGACAAGAACTCGGGTGG -3'
Sequencing Primer
(F):5'- GGCCACGTCCTCAGAAGACTC -3'
(R):5'- ACAAGAACTCGGGTGGTTGGTG -3'
|
Posted On |
2020-06-30 |