Incidental Mutation 'R4501:Sh3d21'
| ID |
386426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d21
|
| Ensembl Gene |
ENSMUSG00000073758 |
| Gene Name |
SH3 domain containing 21 |
| Synonyms |
1700029G01Rik |
| MMRRC Submission |
041753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4501 (G1)
|
| Quality Score |
100 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126044395-126057284 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GAATCTCCTGGGAAAATC to GAATC
at 126056652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080919]
[ENSMUST00000094760]
[ENSMUST00000097891]
[ENSMUST00000163176]
|
| AlphaFold |
Q7TSG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080919
|
| SMART Domains |
Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
Pfam:THRAP3_BCLAF1
|
123 |
788 |
1.9e-207 |
PFAM |
|
low complexity region
|
790 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094760
|
| SMART Domains |
Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758
| 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 null
Transcript: ENSMUST00000097891
|
| SMART Domains |
Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758
| 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 |
noncoding transcript
Transcript: ENSMUST00000140390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154702
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163459
|
| SMART Domains |
Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:THRAP3_BCLAF1
|
1 |
39 |
4e-17 |
PFAM |
|
low complexity region
|
41 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
92 |
N/A |
INTRINSIC |
|
Pfam:Btz
|
124 |
192 |
3.1e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163176
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
G |
14: 54,924,044 (GRCm39) |
V65A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,428,753 (GRCm39) |
L956S |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,052,555 (GRCm39) |
T388I |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,919 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,762,642 (GRCm39) |
V434A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,368,485 (GRCm39) |
M1717L |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,457 (GRCm39) |
L151Q |
probably benign |
Het |
| Hc |
A |
T |
2: 34,887,488 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,509,417 (GRCm39) |
S3644T |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,480,718 (GRCm39) |
I761T |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,965 (GRCm39) |
V90A |
probably benign |
Het |
| Ncf2 |
C |
G |
1: 152,710,784 (GRCm39) |
Q432E |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,165,438 (GRCm39) |
E172G |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Phldb3 |
A |
G |
7: 24,311,986 (GRCm39) |
E100G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,021,356 (GRCm39) |
|
probably benign |
Het |
| Pldi |
G |
T |
10: 60,764,188 (GRCm39) |
|
noncoding transcript |
Het |
| Plk5 |
T |
C |
10: 80,195,305 (GRCm39) |
C208R |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,278 (GRCm39) |
A105E |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,973,999 (GRCm39) |
T252A |
probably benign |
Het |
| Rpl13a |
T |
C |
7: 44,775,564 (GRCm39) |
H95R |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,527,136 (GRCm39) |
I370T |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,326,168 (GRCm39) |
F565L |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,009,243 (GRCm39) |
K1050E |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,624,991 (GRCm39) |
I13450L |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,351,529 (GRCm39) |
P1439Q |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,318 (GRCm39) |
N143D |
probably benign |
Het |
| Zbtb44 |
G |
A |
9: 30,965,462 (GRCm39) |
V291I |
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 |
|
R0890:Sh3d21
|
UTSW |
4 |
126,044,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- CGGAGCATTGTACTTCAAGCC -3'
(R):5'- CGGGGTGGGTTCTTCTAAAC -3'
Sequencing Primer
(F):5'- CATTGTACTTCAAGCCAATCAGGGG -3'
(R):5'- GGGTTCTTCTAAACACTTTCCGAAGG -3'
|
| Posted On |
2016-05-27 |
Incidental Mutation