Incidental Mutation 'R5293:Sh3d21'
| ID |
500919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3d21
|
| Ensembl Gene |
ENSMUSG00000073758 |
| Gene Name |
SH3 domain containing 21 |
| Synonyms |
1700029G01Rik |
| MMRRC Submission |
042876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R5293 (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 A
at 126046050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 173
(T173S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092352
(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
AA Change: T173S
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758
AA Change: T173S
| 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
AA Change: T289S
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758
AA Change: T289S
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,300,722 (GRCm39) |
V269A |
possibly damaging |
Het |
| Akap9 |
C |
T |
5: 3,998,687 (GRCm39) |
R19W |
probably damaging |
Het |
| Akr7a5 |
G |
T |
4: 139,041,517 (GRCm39) |
R142L |
probably benign |
Het |
| Atp6v0a2 |
A |
T |
5: 124,784,649 (GRCm39) |
M311L |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,844 (GRCm39) |
R17H |
probably damaging |
Het |
| Ccdc116 |
A |
T |
16: 16,959,651 (GRCm39) |
L346Q |
possibly damaging |
Het |
| Copg2 |
T |
A |
6: 30,803,162 (GRCm39) |
N261I |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,170,871 (GRCm39) |
E648G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,868,851 (GRCm39) |
K2334Q |
probably benign |
Het |
| Foxa2 |
T |
C |
2: 147,885,922 (GRCm39) |
T123A |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,601,382 (GRCm39) |
V299A |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,733,640 (GRCm39) |
S26P |
probably damaging |
Het |
| Jkamp |
A |
G |
12: 72,136,883 (GRCm39) |
S84G |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,047,235 (GRCm39) |
H45R |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,900,176 (GRCm39) |
Y626H |
probably damaging |
Het |
| Mmp19 |
T |
A |
10: 128,626,970 (GRCm39) |
V16D |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,023,599 (GRCm39) |
N280S |
probably benign |
Het |
| Myl7 |
T |
A |
11: 5,848,521 (GRCm39) |
|
probably benign |
Het |
| Ngef |
CCCTCCTCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTCCTCCTC |
1: 87,431,151 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,330,614 (GRCm39) |
L594R |
probably damaging |
Het |
| Or2y3 |
T |
A |
17: 38,393,131 (GRCm39) |
H246L |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,813,611 (GRCm39) |
K269N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,486 (GRCm39) |
T162A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,399,146 (GRCm39) |
V2070A |
probably benign |
Het |
| Plcxd2 |
G |
T |
16: 45,800,706 (GRCm39) |
H173N |
probably damaging |
Het |
| Plec |
C |
G |
15: 76,083,783 (GRCm39) |
W26C |
probably benign |
Het |
| Psmc1 |
C |
T |
12: 100,081,731 (GRCm39) |
T111I |
probably benign |
Het |
| Rbfa |
T |
C |
18: 80,235,981 (GRCm39) |
E256G |
probably benign |
Het |
| Slc41a3 |
T |
A |
6: 90,603,426 (GRCm39) |
V149E |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,665,757 (GRCm39) |
S186P |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,908,111 (GRCm39) |
D29G |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,032,996 (GRCm39) |
V43A |
possibly damaging |
Het |
| Spen |
G |
A |
4: 141,199,717 (GRCm39) |
A2947V |
possibly damaging |
Het |
| Spta1 |
T |
C |
1: 174,023,551 (GRCm39) |
S653P |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,872,596 (GRCm39) |
Y411* |
probably null |
Het |
| Synrg |
C |
T |
11: 83,872,325 (GRCm39) |
L149F |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,946,377 (GRCm39) |
A1085V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,571,276 (GRCm39) |
E18212G |
probably damaging |
Het |
| Wnk4 |
T |
G |
11: 101,166,023 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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'- ACCTGACTGGATGCAGAGTG -3'
(R):5'- TGGACAGATGGACACAACTC -3'
Sequencing Primer
(F):5'- AAGCCTGGGTTCTGGATCC -3'
(R):5'- GGACAGATGGACACAACTCATCTTTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation