Incidental Mutation 'IGL03240:Sh3pxd2a'
| ID |
414260 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3pxd2a
|
| Ensembl Gene |
ENSMUSG00000053617 |
| Gene Name |
SH3 and PX domains 2A |
| Synonyms |
2310014D11Rik, Fish, Tks5, Sh3md1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03240
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
47248613-47452840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47256465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 751
(L751P)
|
| 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: L779P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: L779P
| 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: L751P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: L751P
| 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,350,365 (GRCm39) |
|
probably benign |
Het |
| AA467197 |
A |
G |
2: 122,481,182 (GRCm39) |
T57A |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,733,345 (GRCm39) |
D1852E |
probably damaging |
Het |
| Arg2 |
T |
A |
12: 79,178,605 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,845,107 (GRCm39) |
D1437G |
probably benign |
Het |
| AW551984 |
C |
A |
9: 39,500,418 (GRCm39) |
R780L |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,974,352 (GRCm39) |
K503* |
probably null |
Het |
| Bltp3a |
C |
A |
17: 28,112,227 (GRCm39) |
N1167K |
probably benign |
Het |
| Cdk2ap1 |
A |
T |
5: 124,484,207 (GRCm39) |
H96Q |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,010,859 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,585,665 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
G |
A |
15: 71,679,777 (GRCm39) |
P877S |
unknown |
Het |
| Col7a1 |
A |
T |
9: 108,797,441 (GRCm39) |
N1681Y |
probably null |
Het |
| Dennd1b |
T |
G |
1: 139,067,130 (GRCm39) |
S398A |
possibly damaging |
Het |
| Fgd2 |
C |
T |
17: 29,580,135 (GRCm39) |
|
probably benign |
Het |
| Hadh |
T |
C |
3: 131,042,192 (GRCm39) |
S98G |
probably benign |
Het |
| Has2 |
C |
T |
15: 56,531,656 (GRCm39) |
R353H |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,783 (GRCm39) |
S857P |
probably benign |
Het |
| Hemgn |
T |
A |
4: 46,400,732 (GRCm39) |
R43* |
probably null |
Het |
| Htr4 |
A |
T |
18: 62,570,692 (GRCm39) |
H249L |
possibly damaging |
Het |
| Hycc2 |
A |
G |
1: 58,569,076 (GRCm39) |
L501P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,022,281 (GRCm39) |
S495P |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,732,271 (GRCm39) |
D99G |
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,428,394 (GRCm39) |
S333C |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 152,999,871 (GRCm39) |
I1163V |
probably damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,866,065 (GRCm39) |
I377F |
possibly damaging |
Het |
| Mcm5 |
T |
A |
8: 75,842,530 (GRCm39) |
I268N |
probably damaging |
Het |
| Mmp21 |
G |
T |
7: 133,276,300 (GRCm39) |
H514Q |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,336,492 (GRCm39) |
T495A |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,701,688 (GRCm39) |
V21E |
probably damaging |
Het |
| Nap1l4 |
A |
G |
7: 143,091,982 (GRCm39) |
S49P |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,247,316 (GRCm39) |
S369F |
probably damaging |
Het |
| Niban2 |
A |
C |
2: 32,812,109 (GRCm39) |
Y397S |
probably benign |
Het |
| Or5g9 |
A |
T |
2: 85,552,675 (GRCm39) |
K309* |
probably null |
Het |
| Pon2 |
A |
G |
6: 5,265,316 (GRCm39) |
|
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,112,393 (GRCm38) |
|
probably benign |
Het |
| Ptprk |
G |
T |
10: 28,368,957 (GRCm39) |
R643L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,524,368 (GRCm39) |
Y455F |
probably benign |
Het |
| Sec23b |
G |
A |
2: 144,408,679 (GRCm39) |
|
probably benign |
Het |
| Snx6 |
T |
A |
12: 54,830,228 (GRCm39) |
H77L |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,048,188 (GRCm39) |
C3472F |
possibly damaging |
Het |
| Trpd52l3 |
A |
T |
19: 29,981,396 (GRCm39) |
E50D |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,246,809 (GRCm39) |
D205G |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,699,797 (GRCm39) |
V352E |
probably benign |
Het |
| Tulp2 |
T |
G |
7: 45,171,734 (GRCm39) |
F436C |
probably damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,282 (GRCm39) |
M58K |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,174,931 (GRCm39) |
V514A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,862,329 (GRCm39) |
V2982A |
probably benign |
Het |
| Ywhaq |
T |
C |
12: 21,445,001 (GRCm39) |
T215A |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,135 (GRCm39) |
H64L |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation