Incidental Mutation 'R7590:Sh3d19'
| ID |
587342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d19
|
| Ensembl Gene |
ENSMUSG00000028082 |
| Gene Name |
SH3 domain protein D19 |
| Synonyms |
Kryn |
| MMRRC Submission |
045669-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
85878416-86037833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86022213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 548
(V548I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107664]
[ENSMUST00000182666]
|
| AlphaFold |
Q91X43 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107664
AA Change: V548I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: V548I
| 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 |
possibly damaging
Transcript: ENSMUST00000182666
AA Change: V548I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: V548I
| 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 |
|
| Meta Mutation Damage Score |
0.3056 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,829,341 (GRCm39) |
T1373S |
probably damaging |
Het |
| Bbox1 |
A |
T |
2: 110,098,577 (GRCm39) |
N333K |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,969,402 (GRCm39) |
M1L |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,609,087 (GRCm39) |
I157F |
probably damaging |
Het |
| Casp1 |
T |
A |
9: 5,306,710 (GRCm39) |
M384K |
probably damaging |
Het |
| Chpt1 |
A |
G |
10: 88,316,688 (GRCm39) |
S257P |
probably damaging |
Het |
| Dennd4a |
G |
A |
9: 64,795,869 (GRCm39) |
G731D |
probably benign |
Het |
| Dlk2 |
A |
T |
17: 46,609,609 (GRCm39) |
S21C |
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,918,854 (GRCm39) |
L620P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,752,435 (GRCm39) |
V414A |
probably benign |
Het |
| Fmo1 |
T |
A |
1: 162,687,251 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,443 (GRCm39) |
N115S |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,438,668 (GRCm39) |
V905A |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,803,779 (GRCm39) |
V490D |
probably benign |
Het |
| Itprid2 |
G |
T |
2: 79,488,454 (GRCm39) |
V846F |
possibly damaging |
Het |
| Lbr |
A |
G |
1: 181,649,076 (GRCm39) |
S348P |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,409,330 (GRCm39) |
D191E |
possibly damaging |
Het |
| Mlip |
A |
T |
9: 77,137,325 (GRCm39) |
D527E |
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,167,679 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nckap5 |
G |
T |
1: 125,954,270 (GRCm39) |
Q761K |
probably benign |
Het |
| Neb |
A |
T |
2: 52,133,854 (GRCm39) |
D3376E |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 15,006,693 (GRCm38) |
*1116W |
probably null |
Het |
| Or2t43 |
T |
C |
11: 58,458,085 (GRCm39) |
I29V |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,149 (GRCm39) |
S99P |
probably damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,386 (GRCm39) |
H95L |
probably benign |
Het |
| Pak2 |
A |
T |
16: 31,871,014 (GRCm39) |
I56K |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,686,629 (GRCm39) |
Y526C |
probably damaging |
Het |
| Phc2 |
T |
A |
4: 128,641,820 (GRCm39) |
L714H |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,232 (GRCm39) |
D223E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Rbm6 |
A |
T |
9: 107,668,949 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,495,466 (GRCm39) |
M352T |
probably damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,256,398 (GRCm39) |
I321F |
possibly damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,771 (GRCm39) |
S85P |
possibly damaging |
Het |
| Speer4a2 |
G |
T |
5: 26,290,764 (GRCm39) |
H136N |
possibly damaging |
Het |
| Ssb |
G |
A |
2: 69,697,634 (GRCm39) |
A122T |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,466 (GRCm39) |
L40P |
possibly damaging |
Het |
| Tex10 |
A |
C |
4: 48,467,725 (GRCm39) |
V358G |
probably damaging |
Het |
| Tmprss11c |
A |
T |
5: 86,387,332 (GRCm39) |
H195Q |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,810 (GRCm39) |
V31A |
possibly damaging |
Het |
| Trim29 |
G |
A |
9: 43,222,788 (GRCm39) |
A206T |
probably damaging |
Het |
| Trim71 |
A |
C |
9: 114,391,893 (GRCm39) |
V98G |
probably benign |
Het |
| Trpm6 |
C |
G |
19: 18,809,945 (GRCm39) |
L1114V |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,822,489 (GRCm39) |
D601G |
possibly damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,194 (GRCm39) |
I767F |
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 |
|
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 |
|
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'- CTGCTTTAATCACATGTGCAGC -3'
(R):5'- GGTCACTGCTGAGATCTTACTC -3'
Sequencing Primer
(F):5'- TGCAGCTGGGGCAATTCATC -3'
(R):5'- CTTCATAACTGAATGCTGACAGAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation