Incidental Mutation 'R5814:Sh3d19'
ID |
447666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3d19
|
Ensembl Gene |
ENSMUSG00000028082 |
Gene Name |
SH3 domain protein D19 |
Synonyms |
Kryn |
MMRRC Submission |
043396-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5814 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
85878416-86037833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86033911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 755
(V755I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107664]
[ENSMUST00000182666]
|
AlphaFold |
Q91X43 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107664
AA Change: V755I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103291 Gene: ENSMUSG00000028082 AA Change: V755I
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 benign
Transcript: ENSMUST00000182666
AA Change: V755I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138320 Gene: ENSMUSG00000028082 AA Change: V755I
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 |
noncoding transcript
Transcript: ENSMUST00000183202
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
91% (52/57) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,740,811 (GRCm39) |
D135G |
probably benign |
Het |
Arrdc3 |
G |
T |
13: 81,038,698 (GRCm39) |
R220L |
possibly damaging |
Het |
Bace1 |
A |
G |
9: 45,771,562 (GRCm39) |
D458G |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,034,880 (GRCm39) |
Y1360C |
probably benign |
Het |
Ccnb1-ps |
T |
C |
7: 41,756,522 (GRCm39) |
|
noncoding transcript |
Het |
Cd209b |
T |
C |
8: 3,973,348 (GRCm39) |
E112G |
probably damaging |
Het |
Cit |
T |
A |
5: 116,117,478 (GRCm39) |
L1176Q |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
Clvs2 |
G |
T |
10: 33,404,503 (GRCm39) |
Q238K |
probably benign |
Het |
Creb3l3 |
C |
T |
10: 80,921,496 (GRCm39) |
V350M |
probably benign |
Het |
Crot |
A |
C |
5: 9,023,996 (GRCm39) |
D373E |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,289,694 (GRCm39) |
I187N |
probably damaging |
Het |
Degs1l |
G |
A |
1: 180,882,663 (GRCm39) |
V142I |
probably damaging |
Het |
Dnhd1 |
C |
A |
7: 105,369,102 (GRCm39) |
A4291D |
possibly damaging |
Het |
Dnmt3b |
A |
T |
2: 153,514,417 (GRCm39) |
E403D |
probably benign |
Het |
Ect2l |
A |
T |
10: 18,075,757 (GRCm39) |
I43K |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,626,940 (GRCm39) |
|
probably benign |
Het |
Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
Erp27 |
A |
T |
6: 136,888,564 (GRCm39) |
V138E |
possibly damaging |
Het |
Gbp4 |
G |
A |
5: 105,267,785 (GRCm39) |
A487V |
probably benign |
Het |
Gm10142 |
C |
A |
10: 77,551,957 (GRCm39) |
T106N |
probably damaging |
Het |
Gxylt2 |
C |
A |
6: 100,710,196 (GRCm39) |
H112Q |
probably damaging |
Het |
Hexim2 |
G |
A |
11: 103,029,209 (GRCm39) |
R87Q |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,807,305 (GRCm39) |
N399S |
probably benign |
Het |
Ikbke |
T |
A |
1: 131,199,516 (GRCm39) |
I302F |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kdm1b |
A |
G |
13: 47,216,622 (GRCm39) |
|
probably null |
Het |
Krtap19-9a |
T |
C |
16: 88,721,002 (GRCm39) |
|
noncoding transcript |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mmp10 |
G |
A |
9: 7,503,621 (GRCm39) |
A164T |
possibly damaging |
Het |
Myrip |
G |
A |
9: 120,253,734 (GRCm39) |
G269D |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Paxbp1 |
G |
T |
16: 90,827,384 (GRCm39) |
R420S |
probably damaging |
Het |
Pcbp2 |
T |
A |
15: 102,391,597 (GRCm39) |
S38R |
probably damaging |
Het |
Pcf11 |
A |
G |
7: 92,306,922 (GRCm39) |
V1082A |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,269,629 (GRCm39) |
E3305G |
probably damaging |
Het |
Pla2g4c |
T |
A |
7: 13,074,543 (GRCm39) |
W250R |
probably damaging |
Het |
Prune2 |
A |
G |
19: 16,993,725 (GRCm39) |
|
probably null |
Het |
Rpsa |
A |
G |
9: 119,957,551 (GRCm39) |
|
probably benign |
Het |
Sema3e |
A |
G |
5: 14,275,680 (GRCm39) |
I262V |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,396,826 (GRCm39) |
L1663* |
probably null |
Het |
Spag9 |
T |
A |
11: 93,973,654 (GRCm39) |
V14E |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
T |
6: 48,428,818 (GRCm39) |
Q411L |
probably damaging |
Het |
Sycp1 |
A |
C |
3: 102,803,213 (GRCm39) |
S532R |
probably benign |
Het |
Taf6l |
C |
A |
19: 8,752,210 (GRCm39) |
A493S |
probably benign |
Het |
Tsnaxip1 |
A |
G |
8: 106,570,603 (GRCm39) |
D574G |
probably benign |
Het |
Ttll10 |
T |
A |
4: 156,132,084 (GRCm39) |
K117N |
possibly damaging |
Het |
Uqcc5 |
A |
G |
14: 30,846,477 (GRCm39) |
|
probably null |
Het |
Utp4 |
T |
A |
8: 107,638,907 (GRCm39) |
I405K |
probably damaging |
Het |
Vmn2r45 |
T |
A |
7: 8,474,475 (GRCm39) |
Y851F |
probably benign |
Het |
Vps33a |
T |
C |
5: 123,703,119 (GRCm39) |
D168G |
probably damaging |
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 |
IGL02308:Sh3d19
|
APN |
3 |
86,001,017 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGGCCTGAAAGCAAATGTC -3'
(R):5'- TCTGCCCTCAGAAATTCTAGTGTAC -3'
Sequencing Primer
(F):5'- GCCTGAAAGCAAATGTCATTAGG -3'
(R):5'- CTCAGAAATTCTAGTGTACCACGTAC -3'
|
Posted On |
2016-12-15 |