Incidental Mutation 'R6831:Sh3pxd2a'
| ID |
537884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3pxd2a
|
| Ensembl Gene |
ENSMUSG00000053617 |
| Gene Name |
SH3 and PX domains 2A |
| Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
| MMRRC Submission |
044941-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6831 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47271532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 244
(R244C)
|
| 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: R244C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: R244C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
G |
10: 29,100,675 (GRCm39) |
D349E |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
| Akr1cl |
C |
T |
1: 65,053,831 (GRCm39) |
|
probably null |
Het |
| Alcam |
A |
G |
16: 52,130,264 (GRCm39) |
Y29H |
probably benign |
Het |
| Alg3 |
A |
T |
16: 20,427,497 (GRCm39) |
S25T |
probably damaging |
Het |
| Amdhd1 |
T |
G |
10: 93,363,118 (GRCm39) |
L323F |
probably damaging |
Het |
| Apcdd1 |
C |
A |
18: 63,083,197 (GRCm39) |
Y342* |
probably null |
Het |
| Aqp9 |
T |
A |
9: 71,069,702 (GRCm39) |
|
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,257,933 (GRCm39) |
T1326A |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,297,860 (GRCm39) |
V1238A |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,233,748 (GRCm39) |
D440G |
probably damaging |
Het |
| Dnah5 |
G |
C |
15: 28,411,661 (GRCm39) |
G3677R |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
| E330034G19Rik |
T |
C |
14: 24,346,163 (GRCm39) |
S25P |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fat3 |
C |
A |
9: 16,287,847 (GRCm39) |
V559L |
probably damaging |
Het |
| Fra10ac1 |
A |
T |
19: 38,195,737 (GRCm39) |
I162K |
probably benign |
Het |
| Glrx3 |
C |
T |
7: 137,060,951 (GRCm39) |
T195M |
possibly damaging |
Het |
| Gm9949 |
T |
A |
18: 62,313,616 (GRCm39) |
|
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,217,767 (GRCm39) |
S228P |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,646,044 (GRCm39) |
T718I |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,857,067 (GRCm39) |
S1010P |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,629,198 (GRCm39) |
Y394* |
probably null |
Het |
| Itpr2 |
G |
A |
6: 146,013,927 (GRCm39) |
T2623M |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,072,496 (GRCm39) |
C67* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,063,749 (GRCm39) |
C758S |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,106,490 (GRCm39) |
K274* |
probably null |
Het |
| Neu2 |
G |
A |
1: 87,524,455 (GRCm39) |
G147R |
probably damaging |
Het |
| Nkx1-1 |
A |
T |
5: 33,591,147 (GRCm39) |
S58R |
unknown |
Het |
| Or2ag16 |
A |
T |
7: 106,351,778 (GRCm39) |
N272K |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,706,086 (GRCm39) |
D211G |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pacs1 |
T |
A |
19: 5,210,823 (GRCm39) |
I151F |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,445,276 (GRCm39) |
R270C |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,838,443 (GRCm39) |
Q1417* |
probably null |
Het |
| Pkm |
G |
C |
9: 59,582,398 (GRCm39) |
M409I |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,631,131 (GRCm39) |
K215N |
probably benign |
Het |
| Polk |
T |
C |
13: 96,631,999 (GRCm39) |
K245E |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,094 (GRCm39) |
Q263L |
probably benign |
Het |
| Prl |
T |
G |
13: 27,243,530 (GRCm39) |
I65S |
probably benign |
Het |
| Proser3 |
T |
C |
7: 30,239,781 (GRCm39) |
H441R |
probably benign |
Het |
| Psmb3 |
A |
G |
11: 97,597,728 (GRCm39) |
K98R |
probably benign |
Het |
| Ptpn20 |
T |
C |
14: 33,354,882 (GRCm39) |
V319A |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,290,991 (GRCm39) |
Y397N |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,420,087 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
T |
A |
5: 113,428,246 (GRCm39) |
Y314F |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,461,767 (GRCm39) |
V3466M |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 76,013,568 (GRCm39) |
F2921I |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
| Trmt112 |
T |
A |
19: 6,887,563 (GRCm39) |
L4H |
probably damaging |
Het |
| Trmu |
A |
G |
15: 85,779,207 (GRCm39) |
T285A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,601,846 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
G |
C |
7: 42,673,004 (GRCm39) |
A143P |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,838,972 (GRCm39) |
E522G |
probably damaging |
Het |
| Zfp354a |
T |
C |
11: 50,961,381 (GRCm39) |
S529P |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
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 |
|
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'- CGCTGCAGTGAATGAGAAAC -3'
(R):5'- GACCCAAGGTCCTTTAGTCC -3'
Sequencing Primer
(F):5'- GAGAAACAAATCTTGCCAGATCTG -3'
(R):5'- AGTCCGCTTCTAGATCCGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation