Incidental Mutation 'R7739:Sh3d19'
| ID |
596409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d19
|
| Ensembl Gene |
ENSMUSG00000028082 |
| Gene Name |
SH3 domain protein D19 |
| Synonyms |
Kryn |
| MMRRC Submission |
045795-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85878416-86037833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86031038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 734
(V734A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107664]
[ENSMUST00000182666]
|
| AlphaFold |
Q91X43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107664
AA Change: V734A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: V734A
| 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: V734A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: V734A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,885,875 (GRCm39) |
A336S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,865,417 (GRCm39) |
S347P |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,352,983 (GRCm39) |
T326A |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,419 (GRCm39) |
I355T |
|
Het |
| Atp2a2 |
G |
A |
5: 122,607,768 (GRCm39) |
T247I |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,837,227 (GRCm39) |
D555E |
probably benign |
Het |
| Aurkb |
G |
T |
11: 68,939,058 (GRCm39) |
G94* |
probably null |
Het |
| B130006D01Rik |
A |
T |
11: 95,616,986 (GRCm39) |
H37L |
unknown |
Het |
| Cabin1 |
A |
G |
10: 75,494,492 (GRCm39) |
L1629P |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,095,578 (GRCm39) |
T1840I |
possibly damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,916,186 (GRCm39) |
D314A |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,360,845 (GRCm39) |
I201N |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,761,653 (GRCm39) |
L2246P |
probably damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,484,511 (GRCm39) |
M657L |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,453 (GRCm39) |
V87A |
probably damaging |
Het |
| Drd5 |
G |
T |
5: 38,477,421 (GRCm39) |
W138L |
probably damaging |
Het |
| Dspp |
G |
A |
5: 104,326,012 (GRCm39) |
D792N |
unknown |
Het |
| Fat2 |
C |
A |
11: 55,171,957 (GRCm39) |
E2919* |
probably null |
Het |
| Fgf20 |
A |
G |
8: 40,732,937 (GRCm39) |
V167A |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,266 (GRCm39) |
V934A |
possibly damaging |
Het |
| Gtf3c3 |
G |
T |
1: 54,444,198 (GRCm39) |
A730D |
possibly damaging |
Het |
| H2-T24 |
A |
G |
17: 36,325,483 (GRCm39) |
V335A |
probably benign |
Het |
| Havcr2 |
T |
G |
11: 46,347,384 (GRCm39) |
N120K |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,348,038 (GRCm39) |
F4895L |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,342,847 (GRCm39) |
Y475H |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,933,620 (GRCm39) |
D85G |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,500,975 (GRCm39) |
S657G |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,584,816 (GRCm39) |
Y382N |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
| Mtf1 |
T |
A |
4: 124,718,081 (GRCm39) |
C260S |
probably damaging |
Het |
| Naa35 |
A |
G |
13: 59,747,598 (GRCm39) |
D110G |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,115,501 (GRCm39) |
T808S |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,909 (GRCm39) |
W56R |
probably damaging |
Het |
| Pax9 |
A |
T |
12: 56,746,884 (GRCm39) |
H240L |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,993,529 (GRCm39) |
T413A |
probably benign |
Het |
| Pik3r1 |
A |
G |
13: 101,846,205 (GRCm39) |
V127A |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,381,324 (GRCm39) |
E170G |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,931,819 (GRCm39) |
I966T |
possibly damaging |
Het |
| Prelid2 |
A |
G |
18: 42,045,433 (GRCm39) |
|
probably null |
Het |
| Rab29 |
T |
A |
1: 131,799,923 (GRCm39) |
M166K |
probably damaging |
Het |
| Rab2b |
T |
C |
14: 52,503,717 (GRCm39) |
E135G |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,463 (GRCm39) |
S365T |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,301,687 (GRCm39) |
E387K |
|
Het |
| Spata31e5 |
T |
A |
1: 28,816,689 (GRCm39) |
T448S |
possibly damaging |
Het |
| Spmip3 |
T |
A |
1: 177,570,828 (GRCm39) |
I54K |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,914 (GRCm39) |
N124K |
probably damaging |
Het |
| Tbc1d31 |
C |
T |
15: 57,799,494 (GRCm39) |
R227* |
probably null |
Het |
| Tcerg1 |
A |
G |
18: 42,657,039 (GRCm39) |
T174A |
unknown |
Het |
| Tenm2 |
T |
C |
11: 35,960,388 (GRCm39) |
S980G |
possibly damaging |
Het |
| Trim30a |
T |
C |
7: 104,079,386 (GRCm39) |
I156M |
possibly damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,396 (GRCm39) |
D454G |
possibly damaging |
Het |
| Trpc7 |
A |
T |
13: 56,921,579 (GRCm39) |
*863K |
probably null |
Het |
| Tubgcp3 |
A |
G |
8: 12,707,561 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn1r33 |
C |
T |
6: 66,589,357 (GRCm39) |
D66N |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,043 (GRCm39) |
I268N |
probably damaging |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,080 (GRCm39) |
E582D |
probably benign |
Het |
| Vtcn1 |
T |
C |
3: 100,791,211 (GRCm39) |
F83S |
probably damaging |
Het |
| Wdr81 |
G |
T |
11: 75,332,811 (GRCm39) |
D684E |
|
Het |
| Wipi1 |
A |
G |
11: 109,470,535 (GRCm39) |
S295P |
probably damaging |
Het |
| Zfp27 |
A |
T |
7: 29,593,699 (GRCm39) |
H755Q |
possibly damaging |
Het |
| Zfp963 |
A |
G |
8: 70,195,533 (GRCm39) |
F307L |
possibly 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 |
|
R7590:Sh3d19
|
UTSW |
3 |
86,022,213 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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'- GCAGCTAACTTTGACTAACACATAG -3'
(R):5'- TTCCCCTAGGTTCCTAAAGGAC -3'
Sequencing Primer
(F):5'- AGGTGAACATCCTTTATCTTTTTGC -3'
(R):5'- CTCACTAGAAGCTCAAGGTAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation