Incidental Mutation 'R8524:Spryd3'
| ID |
658732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spryd3
|
| Ensembl Gene |
ENSMUSG00000036966 |
| Gene Name |
SPRY domain containing 3 |
| Synonyms |
|
| MMRRC Submission |
067949-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102024963-102044669 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 102026583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 363
(R363*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046144]
[ENSMUST00000154032]
[ENSMUST00000169627]
[ENSMUST00000228958]
[ENSMUST00000230474]
|
| AlphaFold |
E9Q9B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046144
|
| SMART Domains |
Protein: ENSMUSP00000041087
Gene: ENSMUSG00000037003
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
79 |
2.78e-9 |
SMART |
|
SCOP:d1d5ra2
|
128 |
295 |
8e-24 |
SMART |
|
PTEN_C2
|
297 |
424 |
6.63e-40 |
SMART |
|
low complexity region
|
494 |
513 |
N/A |
INTRINSIC |
|
SH2
|
1136 |
1236 |
1.69e-16 |
SMART |
|
PTB
|
1269 |
1407 |
6.66e-28 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154032
AA Change: R363*
|
| SMART Domains |
Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966
AA Change: R363*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
38 |
N/A |
INTRINSIC |
|
SPRY
|
76 |
201 |
1.66e-11 |
SMART |
|
SPRY
|
256 |
441 |
3.28e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169627
|
| SMART Domains |
Protein: ENSMUSP00000129146
Gene: ENSMUSG00000037003
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
79 |
2.78e-9 |
SMART |
|
SCOP:d1d5ra2
|
128 |
295 |
8e-24 |
SMART |
|
PTEN_C2
|
297 |
424 |
6.63e-40 |
SMART |
|
low complexity region
|
494 |
513 |
N/A |
INTRINSIC |
|
SH2
|
1129 |
1229 |
1.69e-16 |
SMART |
|
PTB
|
1262 |
1400 |
6.66e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230474
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc65 |
A |
T |
15: 98,606,990 (GRCm39) |
T66S |
probably benign |
Het |
| Cers1 |
G |
A |
8: 70,783,898 (GRCm39) |
G282D |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Col25a1 |
C |
A |
3: 130,342,873 (GRCm39) |
P350H |
probably damaging |
Het |
| Coq5 |
T |
C |
5: 115,422,612 (GRCm39) |
I172T |
probably damaging |
Het |
| Dand5 |
A |
T |
8: 85,549,056 (GRCm39) |
L85* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,934,472 (GRCm39) |
W1486R |
possibly damaging |
Het |
| Dpp8 |
T |
C |
9: 64,950,989 (GRCm39) |
Y142H |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gng7 |
T |
A |
10: 80,787,537 (GRCm39) |
H42L |
possibly damaging |
Het |
| Gps2 |
T |
C |
11: 69,805,832 (GRCm39) |
V93A |
probably damaging |
Het |
| Hspa9 |
T |
C |
18: 35,087,297 (GRCm39) |
S3G |
unknown |
Het |
| Impg2 |
A |
G |
16: 56,038,757 (GRCm39) |
N132D |
probably benign |
Het |
| Jak2 |
A |
T |
19: 29,273,105 (GRCm39) |
N643I |
probably damaging |
Het |
| Kcng2 |
T |
C |
18: 80,338,896 (GRCm39) |
D464G |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,706,384 (GRCm39) |
C833S |
probably damaging |
Het |
| Ly86 |
G |
A |
13: 37,560,869 (GRCm39) |
D77N |
probably damaging |
Het |
| Map7 |
G |
A |
10: 20,142,569 (GRCm39) |
A330T |
probably benign |
Het |
| Mettl1 |
T |
C |
10: 126,877,908 (GRCm39) |
S21P |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,771,997 (GRCm39) |
Y1540C |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,183,840 (GRCm39) |
L300P |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,392,895 (GRCm39) |
M3222T |
probably benign |
Het |
| Nat8f6 |
A |
G |
6: 85,785,541 (GRCm39) |
Y203H |
probably benign |
Het |
| Nod1 |
C |
T |
6: 54,925,060 (GRCm39) |
E84K |
probably damaging |
Het |
| Or10v9 |
A |
G |
19: 11,832,445 (GRCm39) |
Y291H |
probably damaging |
Het |
| Or2b28 |
T |
C |
13: 21,531,248 (GRCm39) |
V50A |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,961 (GRCm39) |
Y218C |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,677,006 (GRCm39) |
N598S |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,729,521 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
T |
G |
4: 134,013,921 (GRCm39) |
E12D |
probably benign |
Het |
| Plcg1 |
G |
A |
2: 160,603,387 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,797,638 (GRCm39) |
H172R |
possibly damaging |
Het |
| Rnf41 |
C |
G |
10: 128,271,299 (GRCm39) |
R70G |
possibly damaging |
Het |
| Rsbn1 |
A |
T |
3: 103,835,687 (GRCm39) |
K203* |
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,901,969 (GRCm39) |
D566G |
probably damaging |
Het |
| Slc7a14 |
A |
C |
3: 31,278,282 (GRCm39) |
V441G |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,885,370 (GRCm39) |
N2077I |
probably damaging |
Het |
| St6galnac1 |
G |
T |
11: 116,658,547 (GRCm39) |
R306S |
possibly damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Trim35 |
C |
T |
14: 66,544,493 (GRCm39) |
R276C |
probably damaging |
Het |
| Trim55 |
A |
T |
3: 19,725,113 (GRCm39) |
D210V |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,542,115 (GRCm39) |
D279E |
probably benign |
Het |
|
| Other mutations in Spryd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01638:Spryd3
|
APN |
15 |
102,038,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02138:Spryd3
|
APN |
15 |
102,027,354 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02652:Spryd3
|
APN |
15 |
102,027,425 (GRCm39) |
splice site |
probably null |
|
|
IGL02716:Spryd3
|
APN |
15 |
102,041,896 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02949:Spryd3
|
APN |
15 |
102,026,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
B6819:Spryd3
|
UTSW |
15 |
102,026,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB001:Spryd3
|
UTSW |
15 |
102,026,762 (GRCm39) |
missense |
probably benign |
0.18 |
|
BB011:Spryd3
|
UTSW |
15 |
102,026,762 (GRCm39) |
missense |
probably benign |
0.18 |
|
K7894:Spryd3
|
UTSW |
15 |
102,026,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0111:Spryd3
|
UTSW |
15 |
102,036,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0479:Spryd3
|
UTSW |
15 |
102,038,835 (GRCm39) |
nonsense |
probably null |
|
|
R0654:Spryd3
|
UTSW |
15 |
102,036,969 (GRCm39) |
splice site |
probably null |
|
|
R1014:Spryd3
|
UTSW |
15 |
102,041,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1448:Spryd3
|
UTSW |
15 |
102,026,827 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1510:Spryd3
|
UTSW |
15 |
102,027,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1863:Spryd3
|
UTSW |
15 |
102,026,094 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2069:Spryd3
|
UTSW |
15 |
102,026,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2212:Spryd3
|
UTSW |
15 |
102,038,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4581:Spryd3
|
UTSW |
15 |
102,038,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4892:Spryd3
|
UTSW |
15 |
102,026,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Spryd3
|
UTSW |
15 |
102,037,046 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5586:Spryd3
|
UTSW |
15 |
102,040,372 (GRCm39) |
missense |
probably benign |
|
|
R5771:Spryd3
|
UTSW |
15 |
102,025,342 (GRCm39) |
unclassified |
probably benign |
|
|
R5945:Spryd3
|
UTSW |
15 |
102,026,630 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7080:Spryd3
|
UTSW |
15 |
102,026,627 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7816:Spryd3
|
UTSW |
15 |
102,026,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7924:Spryd3
|
UTSW |
15 |
102,026,762 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8713:Spryd3
|
UTSW |
15 |
102,041,920 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9027:Spryd3
|
UTSW |
15 |
102,027,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9187:Spryd3
|
UTSW |
15 |
102,039,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Spryd3
|
UTSW |
15 |
102,041,869 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9411:Spryd3
|
UTSW |
15 |
102,027,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAAAATAGACCAGGACTCC -3'
(R):5'- GGACTACATTCTGGACAGCG -3'
Sequencing Primer
(F):5'- TAGACCAGGACTCCAGCCTG -3'
(R):5'- CTACATTCTGGACAGCGAGGGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation