Incidental Mutation 'R0673:Sh3d19'
| ID |
61507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d19
|
| Ensembl Gene |
ENSMUSG00000028082 |
| Gene Name |
SH3 domain protein D19 |
| Synonyms |
Kryn |
| MMRRC Submission |
038858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0673 (G1)
|
| Quality Score |
81 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85878416-86037833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86014280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 415
(S415P)
|
| 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: S415P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: S415P
| 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: S415P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: S415P
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
C |
T |
17: 46,043,999 (GRCm39) |
W86* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,224,642 (GRCm39) |
P894S |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,593,849 (GRCm39) |
N122K |
possibly damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,323,047 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
T |
7: 80,149,499 (GRCm39) |
|
probably null |
Het |
| Caml |
C |
T |
13: 55,779,641 (GRCm39) |
T238M |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,624,440 (GRCm39) |
V411D |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,039,182 (GRCm39) |
N516D |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,505 (GRCm39) |
I2861T |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,777,336 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,351,984 (GRCm39) |
D287G |
possibly damaging |
Het |
| Dgkq |
T |
C |
5: 108,803,455 (GRCm39) |
H217R |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,325 (GRCm39) |
I686F |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,100,794 (GRCm39) |
N2003I |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,122,647 (GRCm39) |
R92S |
probably damaging |
Het |
| Ei24 |
T |
G |
9: 36,699,551 (GRCm39) |
|
probably null |
Het |
| Fgl1 |
G |
T |
8: 41,644,661 (GRCm39) |
T281K |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,271,015 (GRCm39) |
T140A |
probably benign |
Het |
| Gtpbp3 |
A |
T |
8: 71,945,379 (GRCm39) |
I485F |
probably damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Inmt |
A |
C |
6: 55,148,212 (GRCm39) |
V139G |
probably damaging |
Het |
| Inpp5j |
T |
A |
11: 3,451,147 (GRCm39) |
M501L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,062,588 (GRCm39) |
N1647S |
probably damaging |
Het |
| Lgals9 |
A |
G |
11: 78,856,679 (GRCm39) |
F252L |
probably damaging |
Het |
| Lingo3 |
C |
A |
10: 80,671,618 (GRCm39) |
R104L |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,544 (GRCm39) |
V440M |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 90,950,772 (GRCm39) |
G36D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,998,773 (GRCm39) |
N1254K |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nudt12 |
A |
T |
17: 59,314,617 (GRCm39) |
|
probably null |
Het |
| Or2l5 |
A |
G |
16: 19,334,146 (GRCm39) |
M80T |
probably damaging |
Het |
| Or4c3d |
A |
C |
2: 89,882,596 (GRCm39) |
M24R |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Prr14l |
C |
T |
5: 32,986,259 (GRCm39) |
D1079N |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,808,449 (GRCm39) |
T494A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,447,664 (GRCm39) |
K3237E |
possibly damaging |
Het |
| Sypl1 |
A |
T |
12: 33,015,420 (GRCm39) |
T40S |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,613,333 (GRCm39) |
|
probably null |
Het |
| Tmed8 |
A |
G |
12: 87,220,878 (GRCm39) |
V236A |
probably damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,588,783 (GRCm39) |
Y257C |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,058,300 (GRCm39) |
F144S |
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 |
|
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 |
|
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'- GCTTTAGTGCCCAGGAGAAATGGTG -3'
(R):5'- TGCCTGCTTCAGGATCACAAGGAC -3'
Sequencing Primer
(F):5'- AAATGGTGGCCTCACTGG -3'
(R):5'- TTCAGGATCACAAGGACATCCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation