Incidental Mutation 'R8454:Sh3d19'
| ID |
654911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d19
|
| Ensembl Gene |
ENSMUSG00000028082 |
| Gene Name |
SH3 domain protein D19 |
| Synonyms |
Kryn |
| MMRRC Submission |
067831-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8454 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
85878416-86037833 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86014329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 431
(T431K)
|
| 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: T431K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: T431K
| 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: T431K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: T431K
| 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: 99.7%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,635,103 (GRCm39) |
G300V |
possibly damaging |
Het |
| Adgrg7 |
C |
G |
16: 56,616,045 (GRCm39) |
|
probably benign |
Het |
| Agt |
G |
A |
8: 125,290,842 (GRCm39) |
T155M |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,633 (GRCm39) |
V763A |
probably benign |
Het |
| Btn1a1 |
C |
A |
13: 23,648,420 (GRCm39) |
V138L |
probably benign |
Het |
| Cd163 |
A |
T |
6: 124,305,924 (GRCm39) |
N1109I |
probably benign |
Het |
| Cideb |
T |
A |
14: 55,992,598 (GRCm39) |
Q106L |
possibly damaging |
Het |
| Cntn1 |
A |
G |
15: 92,130,130 (GRCm39) |
T126A |
probably benign |
Het |
| Dnai3 |
T |
C |
3: 145,802,982 (GRCm39) |
K70E |
probably damaging |
Het |
| Elfn1 |
T |
C |
5: 139,957,226 (GRCm39) |
Y77H |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,912,358 (GRCm39) |
H386R |
probably damaging |
Het |
| Fbxo21 |
A |
G |
5: 118,133,479 (GRCm39) |
D413G |
probably damaging |
Het |
| Fkbp8 |
T |
A |
8: 70,984,413 (GRCm39) |
|
probably null |
Het |
| Fzd1 |
T |
C |
5: 4,807,336 (GRCm39) |
Q82R |
probably benign |
Het |
| Gast |
T |
C |
11: 100,227,394 (GRCm39) |
L29P |
probably benign |
Het |
| Glb1l2 |
C |
A |
9: 26,717,713 (GRCm39) |
|
probably benign |
Het |
| Gm1110 |
C |
G |
9: 26,794,576 (GRCm39) |
Q483H |
probably benign |
Het |
| Gm1110 |
T |
A |
9: 26,794,577 (GRCm39) |
Q483L |
probably benign |
Het |
| Gpc6 |
T |
C |
14: 117,163,391 (GRCm39) |
L15P |
probably damaging |
Het |
| Hagh |
C |
A |
17: 25,076,536 (GRCm39) |
S161* |
probably null |
Het |
| Hrh1 |
A |
G |
6: 114,457,814 (GRCm39) |
D365G |
probably benign |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,560 (GRCm39) |
M100K |
probably damaging |
Het |
| Itgb8 |
A |
T |
12: 119,134,513 (GRCm39) |
V518D |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,450,238 (GRCm39) |
Y486C |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,810,357 (GRCm39) |
S85P |
probably damaging |
Het |
| Met |
A |
G |
6: 17,491,768 (GRCm39) |
S177G |
probably damaging |
Het |
| Myl9 |
T |
A |
2: 156,623,048 (GRCm39) |
I162N |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,478,251 (GRCm39) |
N973K |
possibly damaging |
Het |
| Or5p68 |
A |
T |
7: 107,945,889 (GRCm39) |
C100S |
probably damaging |
Het |
| Pcdhga12 |
A |
T |
18: 37,901,190 (GRCm39) |
D674V |
possibly damaging |
Het |
| Phtf1 |
T |
A |
3: 103,911,765 (GRCm39) |
N702K |
probably damaging |
Het |
| Plaa |
A |
T |
4: 94,457,714 (GRCm39) |
I752N |
probably damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,038,011 (GRCm39) |
C194R |
probably damaging |
Het |
| Rnaseh2a |
T |
C |
8: 85,691,776 (GRCm39) |
N133S |
probably benign |
Het |
| Rps6ka1 |
T |
A |
4: 133,575,864 (GRCm39) |
Q685L |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,715,142 (GRCm39) |
G4661C |
unknown |
Het |
| Samd13 |
T |
A |
3: 146,352,157 (GRCm39) |
M65L |
probably benign |
Het |
| Sdr42e2 |
T |
A |
7: 120,430,403 (GRCm39) |
V420E |
possibly damaging |
Het |
| Sec22c |
A |
G |
9: 121,524,721 (GRCm39) |
S21P |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,468,108 (GRCm39) |
M277V |
probably benign |
Het |
| Sis |
T |
C |
3: 72,854,834 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,956,513 (GRCm39) |
N753S |
probably benign |
Het |
| Slitrk6 |
C |
A |
14: 110,989,478 (GRCm39) |
L76F |
probably damaging |
Het |
| Stk3 |
C |
T |
15: 34,876,870 (GRCm39) |
A478T |
probably damaging |
Het |
| Styxl2 |
A |
T |
1: 165,935,702 (GRCm39) |
N165K |
probably damaging |
Het |
| Sugp1 |
C |
A |
8: 70,524,247 (GRCm39) |
Y617* |
probably null |
Het |
| Tinag |
T |
C |
9: 76,938,977 (GRCm39) |
D167G |
probably damaging |
Het |
| Tk2 |
A |
G |
8: 104,967,746 (GRCm39) |
|
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,489,308 (GRCm39) |
V514D |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,723,320 (GRCm39) |
H260R |
probably benign |
Het |
| Tnfrsf14 |
T |
A |
4: 155,011,112 (GRCm39) |
Y83F |
possibly damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,014,553 (GRCm39) |
D285E |
probably benign |
Het |
| Togaram2 |
C |
G |
17: 72,004,873 (GRCm39) |
A310G |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,182,448 (GRCm39) |
Y544C |
probably damaging |
Het |
| Ttl |
T |
A |
2: 128,908,104 (GRCm39) |
V13D |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,908,694 (GRCm39) |
D602E |
probably benign |
Het |
| Vamp5 |
A |
G |
6: 72,347,376 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,402 (GRCm39) |
H838L |
possibly damaging |
Het |
| Vps35l |
T |
A |
7: 118,391,795 (GRCm39) |
F493Y |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,461 (GRCm39) |
Y392N |
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 |
|
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 |
|
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'- AGAAATGGTGGCCTCACTGG -3'
(R):5'- GACATCCCCACGCTGTAAAG -3'
Sequencing Primer
(F):5'- CTCCCAGGGCTCGAGGC -3'
(R):5'- TGTAAAGCACAACAGCACTCTCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation