Incidental Mutation 'R4244:Sh3d21'
| ID |
320335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d21
|
| Ensembl Gene |
ENSMUSG00000073758 |
| Gene Name |
SH3 domain containing 21 |
| Synonyms |
1700029G01Rik |
| MMRRC Submission |
041060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4244 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126044395-126057284 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 126044511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101758
(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 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 benign
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 |
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: ENSMUST00000152402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142891
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,560,122 (GRCm39) |
S281N |
probably benign |
Het |
| Arfgef3 |
C |
A |
10: 18,506,168 (GRCm39) |
G878V |
probably damaging |
Het |
| Ccdc137 |
T |
C |
11: 120,352,844 (GRCm39) |
F196S |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,296,838 (GRCm39) |
Q214* |
probably null |
Het |
| Ccrl2 |
T |
C |
9: 110,884,422 (GRCm39) |
I359V |
probably benign |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,482,521 (GRCm38) |
T551A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,714,361 (GRCm39) |
T1683K |
unknown |
Het |
| Copa |
A |
G |
1: 171,938,285 (GRCm39) |
I524V |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,012,031 (GRCm39) |
F1348L |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 105,002,629 (GRCm39) |
K5664I |
probably damaging |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
A |
T |
8: 52,649,435 (GRCm39) |
|
noncoding transcript |
Het |
| Grm4 |
A |
G |
17: 27,721,709 (GRCm39) |
I144T |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krt28 |
G |
T |
11: 99,265,376 (GRCm39) |
S97Y |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
| Mfsd2b |
G |
T |
12: 4,924,356 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or2y3 |
C |
T |
17: 38,393,321 (GRCm39) |
V183I |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,979,632 (GRCm39) |
T244A |
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,412,256 (GRCm39) |
R392W |
probably damaging |
Het |
| Ptpn5 |
C |
T |
7: 46,741,296 (GRCm39) |
W38* |
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Slc5a5 |
A |
G |
8: 71,342,930 (GRCm39) |
V210A |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,558,291 (GRCm39) |
C239R |
probably damaging |
Het |
| Sp5 |
T |
C |
2: 70,307,382 (GRCm39) |
F356L |
probably damaging |
Het |
| Spaca9 |
T |
C |
2: 28,582,998 (GRCm39) |
I141V |
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,485,107 (GRCm39) |
L763H |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,649,112 (GRCm39) |
|
probably benign |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
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 |
|
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'- ATGGTAATGGGAGCCACATGTTG -3'
(R):5'- AAGACTGAGACGCTCCTGTC -3'
Sequencing Primer
(F):5'- CACATGTTGGCCAGATGTGC -3'
(R):5'- CGCTCCTGTCGCCGGAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation