Incidental Mutation 'IGL03261:Smyd5'
| ID |
414822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smyd5
|
| Ensembl Gene |
ENSMUSG00000033706 |
| Gene Name |
SET and MYND domain containing 5 |
| Synonyms |
Rrg1, NN8-4AG, Rai15 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
85408971-85423417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85409000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 5
(M5K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045693]
[ENSMUST00000089578]
|
| AlphaFold |
Q3TYX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045693
AA Change: M5K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000048537
Gene: ENSMUSG00000033706
AA Change: M5K
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
21 |
357 |
8.15e-14 |
SMART |
|
low complexity region
|
392 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089578
|
| SMART Domains |
Protein: ENSMUSP00000087006
Gene: ENSMUSG00000068302
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
149 |
211 |
4.04e-22 |
SMART |
|
low complexity region
|
213 |
225 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204615
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
G |
7: 27,279,863 (GRCm39) |
Y281* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 90,030,756 (GRCm39) |
|
probably benign |
Het |
| Afp |
T |
C |
5: 90,639,610 (GRCm39) |
|
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,337,987 (GRCm39) |
T634A |
probably benign |
Het |
| Cidec |
A |
G |
6: 113,410,133 (GRCm39) |
V32A |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,140,982 (GRCm39) |
P315S |
possibly damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,067,849 (GRCm39) |
Y1784C |
probably damaging |
Het |
| Mmp21 |
A |
G |
7: 133,276,403 (GRCm39) |
V480A |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,697,247 (GRCm39) |
T471I |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,000,199 (GRCm39) |
V299A |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,697 (GRCm39) |
S73T |
possibly damaging |
Het |
| Or6c5 |
A |
G |
10: 129,074,272 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,225,552 (GRCm38) |
D505G |
probably damaging |
Het |
| Rag2 |
A |
G |
2: 101,460,608 (GRCm39) |
D306G |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,746,426 (GRCm39) |
S38T |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,746 (GRCm39) |
H408R |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Slx4ip |
A |
T |
2: 136,888,659 (GRCm39) |
R113S |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,842,789 (GRCm39) |
H587L |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
| Tex16 |
C |
A |
X: 111,028,552 (GRCm39) |
D350E |
possibly damaging |
Het |
| Tex38 |
T |
C |
4: 115,637,723 (GRCm39) |
K27E |
possibly damaging |
Het |
| Trdv4 |
T |
C |
14: 54,312,875 (GRCm39) |
L83P |
possibly damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Vmn1r120 |
A |
G |
7: 20,787,450 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,733 (GRCm39) |
D916G |
possibly damaging |
Het |
|
| Other mutations in Smyd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03065:Smyd5
|
APN |
6 |
85,419,146 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0383:Smyd5
|
UTSW |
6 |
85,417,155 (GRCm39) |
nonsense |
probably null |
|
|
R1957:Smyd5
|
UTSW |
6 |
85,415,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1988:Smyd5
|
UTSW |
6 |
85,415,118 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2049:Smyd5
|
UTSW |
6 |
85,421,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3499:Smyd5
|
UTSW |
6 |
85,415,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Smyd5
|
UTSW |
6 |
85,419,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5092:Smyd5
|
UTSW |
6 |
85,422,185 (GRCm39) |
unclassified |
probably benign |
|
|
R6114:Smyd5
|
UTSW |
6 |
85,417,244 (GRCm39) |
intron |
probably benign |
|
|
R6581:Smyd5
|
UTSW |
6 |
85,409,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7191:Smyd5
|
UTSW |
6 |
85,417,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7868:Smyd5
|
UTSW |
6 |
85,421,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Smyd5
|
UTSW |
6 |
85,415,829 (GRCm39) |
nonsense |
probably null |
|
|
R9391:Smyd5
|
UTSW |
6 |
85,418,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation