Incidental Mutation 'R4246:Sh3d19'
| ID |
320411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d19
|
| Ensembl Gene |
ENSMUSG00000028082 |
| Gene Name |
SH3 domain protein D19 |
| Synonyms |
Kryn |
| MMRRC Submission |
041062-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85878416-86037833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86033995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 783
(V783I)
|
| 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: V783I
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: V783I
| 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: V783I
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: V783I
| 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: 97.5%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,384 (GRCm39) |
T151A |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,658,557 (GRCm39) |
D2189G |
probably damaging |
Het |
| Ccdc91 |
C |
T |
6: 147,493,646 (GRCm39) |
A346V |
unknown |
Het |
| Dnah6 |
C |
T |
6: 73,106,431 (GRCm39) |
E1769K |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,750,786 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Glyatl3 |
T |
A |
17: 41,220,989 (GRCm39) |
D126V |
probably benign |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Igkv8-21 |
T |
A |
6: 70,292,436 (GRCm39) |
M1L |
possibly damaging |
Het |
| Itih4 |
C |
A |
14: 30,613,359 (GRCm39) |
H261N |
probably damaging |
Het |
| Jpt1 |
T |
C |
11: 115,405,119 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Klhl32 |
A |
C |
4: 24,800,822 (GRCm39) |
S3A |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,737,970 (GRCm39) |
|
probably benign |
Het |
| Lamtor5 |
T |
C |
3: 107,186,354 (GRCm39) |
V41A |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Lrfn1 |
G |
T |
7: 28,159,367 (GRCm39) |
V429L |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,508 (GRCm39) |
I252N |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 34,056,373 (GRCm39) |
F464S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,361,916 (GRCm39) |
L1454F |
probably damaging |
Het |
| Nr4a3 |
C |
T |
4: 48,083,125 (GRCm39) |
P553S |
possibly damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,198 (GRCm39) |
T187I |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,624 (GRCm39) |
C147S |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,125,950 (GRCm39) |
E144G |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pira1 |
C |
T |
7: 3,740,348 (GRCm39) |
G291E |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,780 (GRCm39) |
E378V |
probably damaging |
Het |
| Psd2 |
T |
C |
18: 36,139,172 (GRCm39) |
L540P |
probably damaging |
Het |
| Rnf14 |
T |
A |
18: 38,434,701 (GRCm39) |
|
probably null |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Snca |
T |
C |
6: 60,710,149 (GRCm39) |
E110G |
possibly damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,096,856 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tuft1 |
C |
A |
3: 94,522,108 (GRCm39) |
M319I |
probably benign |
Het |
| Vill |
C |
A |
9: 118,889,461 (GRCm39) |
N132K |
probably damaging |
Het |
| Wars2 |
T |
A |
3: 99,123,904 (GRCm39) |
V255E |
probably damaging |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAGATTATTCACGCCGC -3'
(R):5'- GTACACCTTTCCACTGTGAATG -3'
Sequencing Primer
(F):5'- AGATTATTCACGCCGCTCCAGG -3'
(R):5'- CCTTTCCACTGTGAATGAAGCTAAGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation