Incidental Mutation 'IGL02308:Sh3d19'
| ID |
287698 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3d19
|
| Ensembl Gene |
ENSMUSG00000028082 |
| Gene Name |
SH3 domain protein D19 |
| Synonyms |
Kryn |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
85878416-86037833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86001017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 238
(K238E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107664]
[ENSMUST00000182666]
|
| AlphaFold |
Q91X43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107664
AA Change: K238E
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: K238E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
336 |
361 |
N/A |
INTRINSIC |
|
SH3
|
417 |
472 |
1.33e-3 |
SMART |
|
SH3
|
497 |
552 |
1.88e-21 |
SMART |
|
SH3
|
573 |
628 |
3.99e-16 |
SMART |
|
SH3
|
663 |
718 |
2.8e-20 |
SMART |
|
SH3
|
732 |
787 |
7.62e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182666
AA Change: K238E
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: K238E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
336 |
361 |
N/A |
INTRINSIC |
|
SH3
|
417 |
472 |
1.33e-3 |
SMART |
|
SH3
|
497 |
552 |
1.88e-21 |
SMART |
|
SH3
|
573 |
628 |
3.99e-16 |
SMART |
|
SH3
|
663 |
718 |
2.8e-20 |
SMART |
|
SH3
|
732 |
787 |
7.62e-22 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,093,308 (GRCm39) |
S8F |
probably damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,931 (GRCm39) |
Q37L |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,736,463 (GRCm39) |
T1343A |
probably benign |
Het |
| Cmbl |
C |
A |
15: 31,585,554 (GRCm39) |
P146Q |
possibly damaging |
Het |
| Cog2 |
A |
T |
8: 125,259,951 (GRCm39) |
|
probably null |
Het |
| Dgkh |
C |
A |
14: 78,825,016 (GRCm39) |
V880L |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,402,141 (GRCm39) |
S1114P |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,080,828 (GRCm39) |
V723D |
probably damaging |
Het |
| Gdf11 |
A |
G |
10: 128,721,253 (GRCm39) |
Y314H |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
G |
A |
11: 57,127,750 (GRCm39) |
V320I |
probably benign |
Het |
| H2-Q10 |
T |
A |
17: 35,784,463 (GRCm39) |
*326R |
probably null |
Het |
| Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,832,120 (GRCm39) |
|
probably benign |
Het |
| Mios |
A |
G |
6: 8,231,269 (GRCm39) |
I718V |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,096,893 (GRCm39) |
V318A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,039,897 (GRCm39) |
*528W |
probably null |
Het |
| Nom1 |
T |
A |
5: 29,642,708 (GRCm39) |
V403D |
probably damaging |
Het |
| Npffr2 |
C |
A |
5: 89,731,310 (GRCm39) |
N413K |
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,476,860 (GRCm39) |
R135K |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,779,121 (GRCm39) |
Y26N |
probably benign |
Het |
| Or52e8 |
T |
A |
7: 104,624,665 (GRCm39) |
I176F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,140,600 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,431,698 (GRCm39) |
M1158V |
probably benign |
Het |
| Smarcc2 |
G |
T |
10: 128,318,641 (GRCm39) |
R641L |
probably damaging |
Het |
| Th |
T |
C |
7: 142,451,794 (GRCm39) |
E75G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Top6bl |
T |
C |
19: 4,713,583 (GRCm39) |
K132E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,724,705 (GRCm39) |
R2107* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,245,119 (GRCm39) |
C1636S |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,597 (GRCm39) |
I103K |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,437 (GRCm39) |
M558V |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,777,573 (GRCm39) |
M1801I |
probably benign |
Het |
|
| Other mutations in Sh3d19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01415:Sh3d19
|
APN |
3 |
86,005,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01483:Sh3d19
|
APN |
3 |
86,022,103 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02272:Sh3d19
|
APN |
3 |
86,028,474 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02431:Sh3d19
|
APN |
3 |
86,014,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Sh3d19
|
UTSW |
3 |
86,033,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0323:Sh3d19
|
UTSW |
3 |
86,033,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0624:Sh3d19
|
UTSW |
3 |
86,022,213 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0639:Sh3d19
|
UTSW |
3 |
86,014,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0673:Sh3d19
|
UTSW |
3 |
86,014,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1148:Sh3d19
|
UTSW |
3 |
86,014,634 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1148:Sh3d19
|
UTSW |
3 |
86,014,634 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1569:Sh3d19
|
UTSW |
3 |
86,033,951 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1738:Sh3d19
|
UTSW |
3 |
86,027,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3911:Sh3d19
|
UTSW |
3 |
86,014,534 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3913:Sh3d19
|
UTSW |
3 |
85,992,083 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4246:Sh3d19
|
UTSW |
3 |
86,033,995 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4327:Sh3d19
|
UTSW |
3 |
86,031,020 (GRCm39) |
missense |
probably benign |
|
|
R4663:Sh3d19
|
UTSW |
3 |
86,030,570 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4730:Sh3d19
|
UTSW |
3 |
86,024,171 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4812:Sh3d19
|
UTSW |
3 |
86,031,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Sh3d19
|
UTSW |
3 |
86,031,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Sh3d19
|
UTSW |
3 |
86,031,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Sh3d19
|
UTSW |
3 |
86,033,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Sh3d19
|
UTSW |
3 |
86,011,409 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6504:Sh3d19
|
UTSW |
3 |
85,992,643 (GRCm39) |
missense |
probably benign |
|
|
R6806:Sh3d19
|
UTSW |
3 |
86,011,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6916:Sh3d19
|
UTSW |
3 |
85,992,218 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7012:Sh3d19
|
UTSW |
3 |
85,992,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7147:Sh3d19
|
UTSW |
3 |
86,011,584 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7367:Sh3d19
|
UTSW |
3 |
86,011,535 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7590:Sh3d19
|
UTSW |
3 |
86,022,213 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7739:Sh3d19
|
UTSW |
3 |
86,031,038 (GRCm39) |
missense |
probably benign |
|
|
R7971:Sh3d19
|
UTSW |
3 |
86,022,103 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8321:Sh3d19
|
UTSW |
3 |
86,001,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Sh3d19
|
UTSW |
3 |
86,014,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8415:Sh3d19
|
UTSW |
3 |
85,992,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8454:Sh3d19
|
UTSW |
3 |
86,014,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8480:Sh3d19
|
UTSW |
3 |
85,992,184 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8703:Sh3d19
|
UTSW |
3 |
86,014,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8807:Sh3d19
|
UTSW |
3 |
85,992,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9032:Sh3d19
|
UTSW |
3 |
86,033,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Sh3d19
|
UTSW |
3 |
86,033,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Sh3d19
|
UTSW |
3 |
85,990,918 (GRCm39) |
start gained |
probably benign |
|
|
R9219:Sh3d19
|
UTSW |
3 |
86,030,507 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9610:Sh3d19
|
UTSW |
3 |
86,014,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9777:Sh3d19
|
UTSW |
3 |
86,028,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0027:Sh3d19
|
UTSW |
3 |
86,028,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sh3d19
|
UTSW |
3 |
86,014,331 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation