Incidental Mutation 'R6916:Sh3d19'
| ID |
539331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d19
|
| Ensembl Gene |
ENSMUSG00000028082 |
| Gene Name |
SH3 domain protein D19 |
| Synonyms |
Kryn |
| MMRRC Submission |
045037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
85878416-86037833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85992218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 82
(E82G)
|
| 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: E82G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: E82G
| 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: E82G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: E82G
| 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 |
0.1571 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (59/60) |
| 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 |
|---|
| 2700049A03Rik |
T |
A |
12: 71,211,318 (GRCm39) |
I684K |
possibly damaging |
Het |
| Abcg3 |
T |
A |
5: 105,122,601 (GRCm39) |
R97S |
probably benign |
Het |
| Acin1 |
A |
T |
14: 54,902,873 (GRCm39) |
F160L |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,987 (GRCm39) |
I329N |
probably benign |
Het |
| Asb10 |
T |
C |
5: 24,742,854 (GRCm39) |
D293G |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,825 (GRCm39) |
S117P |
probably benign |
Het |
| Bahcc1 |
T |
A |
11: 120,163,835 (GRCm39) |
V711E |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,799,120 (GRCm39) |
S335T |
probably benign |
Het |
| Bdkrb2 |
C |
T |
12: 105,558,038 (GRCm39) |
A93V |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,817,321 (GRCm39) |
V1247D |
probably damaging |
Het |
| Cenpb |
A |
C |
2: 131,021,544 (GRCm39) |
F85V |
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,750,202 (GRCm39) |
Q142K |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,327,071 (GRCm39) |
|
probably null |
Het |
| Cnr1 |
A |
G |
4: 33,943,897 (GRCm39) |
D95G |
probably benign |
Het |
| Ctnnd1 |
A |
T |
2: 84,439,990 (GRCm39) |
D767E |
probably benign |
Het |
| Ddx20 |
T |
C |
3: 105,587,929 (GRCm39) |
N384D |
probably damaging |
Het |
| Dnaaf3 |
T |
A |
7: 4,530,532 (GRCm39) |
D191V |
probably damaging |
Het |
| Efna1 |
T |
C |
3: 89,183,695 (GRCm39) |
N44D |
possibly damaging |
Het |
| Errfi1 |
A |
T |
4: 150,951,930 (GRCm39) |
K453* |
probably null |
Het |
| Fam149a |
C |
A |
8: 45,803,443 (GRCm39) |
K349N |
probably damaging |
Het |
| Fbxl20 |
T |
A |
11: 98,004,079 (GRCm39) |
I70L |
possibly damaging |
Het |
| Flnb |
C |
T |
14: 7,907,171 (GRCm38) |
T1248I |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,455,109 (GRCm39) |
R2156G |
probably damaging |
Het |
| Ftl1 |
T |
C |
7: 45,108,964 (GRCm39) |
Y31C |
probably damaging |
Het |
| Gm5862 |
G |
T |
5: 26,224,346 (GRCm39) |
H208N |
probably benign |
Het |
| Hc |
A |
T |
2: 34,900,044 (GRCm39) |
Y1096* |
probably null |
Het |
| Hps1 |
ATCCTCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
19: 42,755,164 (GRCm39) |
|
|
Het |
| Ints3 |
T |
C |
3: 90,313,641 (GRCm39) |
D329G |
probably damaging |
Het |
| Irak3 |
A |
T |
10: 120,037,270 (GRCm39) |
L32Q |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,401,843 (GRCm39) |
T20A |
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,030,774 (GRCm39) |
D95V |
probably benign |
Het |
| Krt79 |
C |
T |
15: 101,844,605 (GRCm39) |
D260N |
probably benign |
Het |
| Lrp11 |
C |
A |
10: 7,484,478 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
C |
A |
10: 116,881,454 (GRCm39) |
R43S |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,418,454 (GRCm39) |
Y3800F |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,278,737 (GRCm39) |
K1003E |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,455,176 (GRCm39) |
I2567T |
probably damaging |
Het |
| Necab2 |
G |
T |
8: 120,194,355 (GRCm39) |
R277L |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 50,350,927 (GRCm39) |
Y525H |
probably benign |
Het |
| Olfm4 |
T |
A |
14: 80,251,638 (GRCm39) |
M186K |
probably damaging |
Het |
| Or10d1c |
T |
C |
9: 38,894,200 (GRCm39) |
I47V |
probably benign |
Het |
| Or1e29 |
T |
A |
11: 73,667,895 (GRCm39) |
Q86L |
probably benign |
Het |
| Or2h2b-ps1 |
T |
C |
17: 37,480,864 (GRCm39) |
K225R |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,434 (GRCm39) |
S255C |
possibly damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,816,518 (GRCm39) |
C704S |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sh2d3c |
C |
T |
2: 32,642,665 (GRCm39) |
R552* |
probably null |
Het |
| Son |
T |
A |
16: 91,451,673 (GRCm39) |
L140Q |
probably damaging |
Het |
| Svil |
G |
A |
18: 5,114,682 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,177,912 (GRCm39) |
K4854R |
probably benign |
Het |
| Tlcd4 |
T |
C |
3: 121,000,805 (GRCm39) |
D276G |
possibly damaging |
Het |
| Tmem202 |
C |
A |
9: 59,432,757 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
T |
C |
1: 58,949,184 (GRCm39) |
T539A |
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,014 (GRCm39) |
S80P |
probably damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,402,459 (GRCm39) |
R57S |
probably benign |
Het |
| Usp34 |
G |
A |
11: 23,408,023 (GRCm39) |
R2616Q |
probably damaging |
Het |
| Usp48 |
T |
C |
4: 137,365,544 (GRCm39) |
Y113H |
probably damaging |
Het |
| Vtcn1 |
G |
T |
3: 100,795,479 (GRCm39) |
|
probably null |
Het |
| Wdr19 |
G |
A |
5: 65,382,677 (GRCm39) |
R467Q |
possibly damaging |
Het |
| Wdr72 |
A |
G |
9: 74,062,321 (GRCm39) |
Y489C |
probably benign |
Het |
| Wipf1 |
C |
A |
2: 73,267,748 (GRCm39) |
G217W |
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 |
|
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'- TTTGAGGGTCAGACGAACAC -3'
(R):5'- TCGGTGGAATCGAAGGGTAC -3'
Sequencing Primer
(F):5'- GGGTCAGACGAACACAGAAATCC -3'
(R):5'- TTTTTCGGCAGCAAAGGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation