Incidental Mutation 'R8742:Sh3pxd2a'
ID |
686541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3pxd2a
|
Ensembl Gene |
ENSMUSG00000053617 |
Gene Name |
SH3 and PX domains 2A |
Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
MMRRC Submission |
068587-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8742 (G1)
|
Quality Score |
46.0072 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 47275073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 230
(S230L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081619]
[ENSMUST00000111800]
|
AlphaFold |
O89032 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081619
AA Change: S230L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000080325 Gene: ENSMUSG00000053617 AA Change: S230L
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 benign
Transcript: ENSMUST00000111800
AA Change: S230L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107430 Gene: ENSMUSG00000053617 AA Change: S230L
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.0%
|
Validation Efficiency |
100% (55/55) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,265,835 (GRCm39) |
I893V |
probably benign |
Het |
Adhfe1 |
A |
G |
1: 9,630,401 (GRCm39) |
I317V |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,171,556 (GRCm39) |
V951A |
probably damaging |
Het |
Ankrd35 |
T |
A |
3: 96,586,502 (GRCm39) |
H59Q |
probably damaging |
Het |
Atg16l1 |
C |
T |
1: 87,694,620 (GRCm39) |
T161I |
probably damaging |
Het |
Axl |
A |
G |
7: 25,463,861 (GRCm39) |
V591A |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Cdcp3 |
A |
G |
7: 130,783,741 (GRCm39) |
I45V |
unknown |
Het |
Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
Cfh |
A |
T |
1: 140,029,390 (GRCm39) |
F986L |
probably damaging |
Het |
Cfh |
G |
T |
1: 140,064,469 (GRCm39) |
T393K |
probably damaging |
Het |
Clic1 |
A |
G |
17: 35,274,356 (GRCm39) |
N179S |
probably benign |
Het |
Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dst |
T |
A |
1: 34,251,425 (GRCm39) |
D2159E |
probably benign |
Het |
Epn3 |
T |
G |
11: 94,386,921 (GRCm39) |
T150P |
probably damaging |
Het |
Fgr |
T |
C |
4: 132,724,828 (GRCm39) |
Y310H |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,391,593 (GRCm39) |
Y727C |
probably damaging |
Het |
Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gdf10 |
A |
T |
14: 33,654,426 (GRCm39) |
H311L |
probably benign |
Het |
Gphn |
C |
T |
12: 78,659,766 (GRCm39) |
R423C |
probably damaging |
Het |
Gpr132 |
T |
C |
12: 112,819,517 (GRCm39) |
|
probably benign |
Het |
Herc2 |
C |
A |
7: 55,744,143 (GRCm39) |
T406K |
probably benign |
Het |
Hpf1 |
T |
C |
8: 61,346,748 (GRCm39) |
V21A |
probably benign |
Het |
Ifitm6 |
A |
G |
7: 140,596,008 (GRCm39) |
I75T |
probably benign |
Het |
Itgax |
A |
T |
7: 127,743,795 (GRCm39) |
H852L |
probably benign |
Het |
Klhl3 |
T |
C |
13: 58,159,021 (GRCm39) |
Y546C |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,644,571 (GRCm39) |
L578P |
possibly damaging |
Het |
Ltbp1 |
A |
G |
17: 75,617,217 (GRCm39) |
Y734C |
probably damaging |
Het |
Mapre2 |
C |
A |
18: 24,016,688 (GRCm39) |
H281N |
probably benign |
Het |
Mcm4 |
T |
C |
16: 15,443,430 (GRCm39) |
D831G |
possibly damaging |
Het |
Mlf1 |
G |
A |
3: 67,305,119 (GRCm39) |
A207T |
probably damaging |
Het |
Mslnl |
A |
T |
17: 25,964,047 (GRCm39) |
I459F |
probably damaging |
Het |
Mtnr1a |
A |
G |
8: 45,540,720 (GRCm39) |
D227G |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,851,216 (GRCm39) |
L803Q |
probably damaging |
Het |
Nr3c2 |
T |
G |
8: 77,635,210 (GRCm39) |
S104A |
probably damaging |
Het |
Or4k52 |
A |
G |
2: 111,610,910 (GRCm39) |
I82V |
probably benign |
Het |
Pard3 |
C |
T |
8: 128,050,592 (GRCm39) |
A218V |
possibly damaging |
Het |
Poteg |
A |
T |
8: 27,984,957 (GRCm39) |
N439Y |
possibly damaging |
Het |
Pramel34 |
T |
A |
5: 93,785,935 (GRCm39) |
D115V |
probably damaging |
Het |
Ret |
A |
T |
6: 118,155,484 (GRCm39) |
L404Q |
probably damaging |
Het |
Ripk4 |
A |
T |
16: 97,556,272 (GRCm39) |
V157D |
probably damaging |
Het |
Rsf1 |
CGGCGGCGGCGGCGGCGGCGGC |
CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Serinc1 |
A |
T |
10: 57,395,895 (GRCm39) |
N298K |
probably benign |
Het |
Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
Skint11 |
T |
C |
4: 114,051,922 (GRCm39) |
I90T |
probably damaging |
Het |
Slc36a4 |
A |
G |
9: 15,632,039 (GRCm39) |
T72A |
probably damaging |
Het |
Slc38a9 |
T |
A |
13: 112,865,818 (GRCm39) |
I505K |
probably damaging |
Het |
Sprr3 |
C |
T |
3: 92,364,307 (GRCm39) |
R179H |
possibly damaging |
Het |
Syne1 |
A |
T |
10: 5,058,661 (GRCm39) |
I7284N |
probably benign |
Het |
Timeless |
A |
T |
10: 128,083,107 (GRCm39) |
T648S |
probably benign |
Het |
Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,667,469 (GRCm39) |
F815L |
probably damaging |
Het |
Uimc1 |
A |
G |
13: 55,240,971 (GRCm39) |
L39S |
possibly damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,304,263 (GRCm39) |
T723A |
probably benign |
Het |
Vps11 |
A |
G |
9: 44,267,070 (GRCm39) |
|
probably benign |
Het |
Zp3r |
A |
T |
1: 130,511,230 (GRCm39) |
C383S |
probably 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 |
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 |
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'- GTGAGTGAATCGCAAACCCAAC -3'
(R):5'- GGCATTTCCCAGGTTTTCTG -3'
Sequencing Primer
(F):5'- AACCCACTCTAGTAGCTGAGGTG -3'
(R):5'- TCTGGGTCAGTGCCTTGCC -3'
|
Posted On |
2021-10-20 |