Incidental Mutation 'R8703:Sh3d19'
| ID |
669139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d19
|
| Ensembl Gene |
ENSMUSG00000028082 |
| Gene Name |
SH3 domain protein D19 |
| Synonyms |
Kryn |
| MMRRC Submission |
068557-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8703 (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 86014568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 453
(E453G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107664]
[ENSMUST00000182666]
|
| AlphaFold |
Q91X43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107664
AA Change: E453G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: E453G
| 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 damaging
Transcript: ENSMUST00000182666
AA Change: E453G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: E453G
| 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 |
0.0806 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,676,792 (GRCm39) |
T2013I |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,201,120 (GRCm39) |
N137Y |
|
Het |
| Apol10b |
T |
A |
15: 77,472,897 (GRCm39) |
E52D |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,192,291 (GRCm39) |
Y128N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,493,576 (GRCm39) |
L1669* |
probably null |
Het |
| Dppa3 |
A |
T |
6: 122,605,737 (GRCm39) |
D97V |
probably damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,552,329 (GRCm39) |
P490T |
probably damaging |
Het |
| Eya4 |
A |
G |
10: 23,039,340 (GRCm39) |
S85P |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,332 (GRCm39) |
I113N |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,247,997 (GRCm39) |
D1040G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,821,871 (GRCm39) |
D5868V |
probably damaging |
Het |
| Gpr75 |
A |
C |
11: 30,841,890 (GRCm39) |
Q265P |
probably damaging |
Het |
| Iqcm |
G |
T |
8: 76,615,271 (GRCm39) |
G451C |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,506,073 (GRCm39) |
P67L |
probably damaging |
Het |
| Naalad2 |
A |
C |
9: 18,290,008 (GRCm39) |
Y207D |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,323,703 (GRCm39) |
D1325N |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,643,021 (GRCm39) |
|
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4b1b |
T |
A |
2: 90,126,837 (GRCm39) |
I123F |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,244 (GRCm39) |
V124L |
possibly damaging |
Het |
| Or9i14 |
G |
T |
19: 13,792,105 (GRCm39) |
P283H |
probably damaging |
Het |
| Per2 |
T |
A |
1: 91,351,767 (GRCm39) |
N913I |
possibly damaging |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Reps1 |
C |
T |
10: 17,968,990 (GRCm39) |
R183C |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,496,137 (GRCm39) |
C134S |
|
Het |
| Rpl10-ps3 |
A |
G |
9: 50,256,184 (GRCm39) |
S20P |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,605,595 (GRCm39) |
G932C |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,854,959 (GRCm39) |
Q46R |
|
Het |
| Sirt6 |
A |
G |
10: 81,461,548 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,867,657 (GRCm39) |
F129L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,733,207 (GRCm39) |
I399F |
unknown |
Het |
| Slc22a7 |
T |
C |
17: 46,744,951 (GRCm39) |
D365G |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,324,447 (GRCm39) |
M38V |
probably benign |
Het |
| Slc9b2 |
C |
A |
3: 135,031,924 (GRCm39) |
Y261* |
probably null |
Het |
| Spata21 |
A |
G |
4: 140,832,218 (GRCm39) |
I460V |
probably benign |
Het |
| Tes |
C |
G |
6: 17,099,788 (GRCm39) |
P261R |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,724 (GRCm39) |
L718P |
probably benign |
Het |
| Tmem135 |
G |
A |
7: 88,808,170 (GRCm39) |
A202V |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,321 (GRCm39) |
F55L |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,317 (GRCm39) |
L1128P |
probably damaging |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,596 (GRCm39) |
E527G |
probably benign |
Het |
| Zfand4 |
A |
G |
6: 116,250,604 (GRCm39) |
I11M |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,582,888 (GRCm39) |
I512K |
probably benign |
Het |
| Zfp638 |
T |
A |
6: 83,954,143 (GRCm39) |
F1416Y |
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 |
|
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 |
|
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'- AAGTCAAGCTCTTCCCTTACTG -3'
(R):5'- GTAACGCTGCTGATACGAGG -3'
Sequencing Primer
(F):5'- CTGCTCCTGCTATTACACA -3'
(R):5'- GGAACTCAGGGAGTGGAGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation