Incidental Mutation 'R0890:Sh3d21'
ID |
83458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3d21
|
Ensembl Gene |
ENSMUSG00000073758 |
Gene Name |
SH3 domain containing 21 |
Synonyms |
1700029G01Rik |
MMRRC Submission |
039053-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R0890 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126044395-126057284 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126044945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 578
(E578G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052876]
[ENSMUST00000094760]
[ENSMUST00000097891]
[ENSMUST00000106150]
[ENSMUST00000106152]
|
AlphaFold |
Q7TSG5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052876
|
SMART Domains |
Protein: ENSMUSP00000054141 Gene: ENSMUSG00000050212
Domain | Start | End | E-Value | Type |
Pfam:FAM176
|
7 |
154 |
5.3e-59 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094760
AA Change: E462G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092352 Gene: ENSMUSG00000073758 AA Change: E462G
Domain | Start | End | E-Value | Type |
SH3
|
68 |
125 |
7.11e-22 |
SMART |
low complexity region
|
211 |
221 |
N/A |
INTRINSIC |
low complexity region
|
464 |
473 |
N/A |
INTRINSIC |
coiled coil region
|
482 |
510 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097891
AA Change: E578G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000095501 Gene: ENSMUSG00000073758 AA Change: E578G
Domain | Start | End | E-Value | Type |
SH3
|
1 |
57 |
4.29e-7 |
SMART |
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
SH3
|
86 |
141 |
2.96e-19 |
SMART |
SH3
|
184 |
241 |
7.11e-22 |
SMART |
low complexity region
|
327 |
337 |
N/A |
INTRINSIC |
low complexity region
|
580 |
589 |
N/A |
INTRINSIC |
coiled coil region
|
598 |
626 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106150
|
SMART Domains |
Protein: ENSMUSP00000101756 Gene: ENSMUSG00000050212
Domain | Start | End | E-Value | Type |
Pfam:FAM176
|
7 |
154 |
3e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106152
|
SMART Domains |
Protein: ENSMUSP00000101758 Gene: ENSMUSG00000050212
Domain | Start | End | E-Value | Type |
Pfam:FAM176
|
7 |
154 |
3e-63 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122969
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142891
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152402
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
probably damaging |
Het |
|
Other mutations in Sh3d21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02172:Sh3d21
|
APN |
4 |
126,046,153 (GRCm39) |
missense |
probably benign |
|
IGL02869:Sh3d21
|
APN |
4 |
126,056,034 (GRCm39) |
missense |
probably benign |
0.23 |
R0827:Sh3d21
|
UTSW |
4 |
126,046,064 (GRCm39) |
unclassified |
probably benign |
|
R0834:Sh3d21
|
UTSW |
4 |
126,045,065 (GRCm39) |
missense |
probably benign |
0.02 |
R1519:Sh3d21
|
UTSW |
4 |
126,045,519 (GRCm39) |
nonsense |
probably null |
|
R1864:Sh3d21
|
UTSW |
4 |
126,044,729 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1986:Sh3d21
|
UTSW |
4 |
126,056,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R3429:Sh3d21
|
UTSW |
4 |
126,056,625 (GRCm39) |
missense |
probably benign |
0.25 |
R3430:Sh3d21
|
UTSW |
4 |
126,056,625 (GRCm39) |
missense |
probably benign |
0.25 |
R4244:Sh3d21
|
UTSW |
4 |
126,044,511 (GRCm39) |
unclassified |
probably benign |
|
R4501:Sh3d21
|
UTSW |
4 |
126,056,652 (GRCm39) |
frame shift |
probably null |
|
R4972:Sh3d21
|
UTSW |
4 |
126,046,209 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5117:Sh3d21
|
UTSW |
4 |
126,045,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R5249:Sh3d21
|
UTSW |
4 |
126,055,858 (GRCm39) |
unclassified |
probably benign |
|
R5293:Sh3d21
|
UTSW |
4 |
126,046,050 (GRCm39) |
missense |
probably benign |
0.18 |
R5556:Sh3d21
|
UTSW |
4 |
126,056,029 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7085:Sh3d21
|
UTSW |
4 |
126,056,884 (GRCm39) |
missense |
probably benign |
0.02 |
R7247:Sh3d21
|
UTSW |
4 |
126,045,908 (GRCm39) |
missense |
probably benign |
0.00 |
R7564:Sh3d21
|
UTSW |
4 |
126,044,937 (GRCm39) |
missense |
probably benign |
0.13 |
R8262:Sh3d21
|
UTSW |
4 |
126,055,775 (GRCm39) |
missense |
probably benign |
0.03 |
R9047:Sh3d21
|
UTSW |
4 |
126,046,131 (GRCm39) |
unclassified |
probably benign |
|
R9295:Sh3d21
|
UTSW |
4 |
126,045,276 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAGGATTTCCGGTTCCTCTGCATC -3'
(R):5'- TCAATGCCAGCACTTGCCTCAG -3'
Sequencing Primer
(F):5'- AGGAGCGTCTCAGTCTTCAG -3'
(R):5'- TGACTCCTCAGAGAGGTCCTG -3'
|
Posted On |
2013-11-08 |