Incidental Mutation 'IGL00777:Smyd4'
| ID |
14166 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smyd4
|
| Ensembl Gene |
ENSMUSG00000018809 |
| Gene Name |
SET and MYND domain containing 4 |
| Synonyms |
G430029E23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00777
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75239259-75296531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75281634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 369
(M369K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044530]
|
| AlphaFold |
Q8BTK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044530
AA Change: M369K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: M369K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
65 |
132 |
2.4e-10 |
PFAM |
|
SET
|
231 |
576 |
4.85e-1 |
SMART |
|
Blast:TPR
|
694 |
726 |
1e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145888
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit testicular degeneration and atrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,183,100 (GRCm39) |
I82T |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,448,365 (GRCm39) |
Y305C |
possibly damaging |
Het |
| Cldn34c1 |
T |
C |
X: 122,052,570 (GRCm39) |
L103P |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,934,468 (GRCm39) |
L234H |
probably damaging |
Het |
| H1f4 |
T |
A |
13: 23,806,005 (GRCm39) |
|
probably benign |
Het |
| Hgd |
A |
G |
16: 37,433,611 (GRCm39) |
T77A |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,937,325 (GRCm39) |
T17A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,215,293 (GRCm39) |
D1761G |
probably benign |
Het |
| Mmp23 |
T |
G |
4: 155,735,464 (GRCm39) |
Y334S |
possibly damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,107 (GRCm39) |
S858G |
possibly damaging |
Het |
| Nsd1 |
G |
A |
13: 55,386,548 (GRCm39) |
G101E |
probably damaging |
Het |
| Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
| Phex |
A |
G |
X: 155,960,528 (GRCm39) |
L672P |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,223,848 (GRCm39) |
|
probably null |
Het |
| Rfk |
T |
A |
19: 17,372,700 (GRCm39) |
V74E |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,656,933 (GRCm39) |
C467R |
probably damaging |
Het |
| Rufy2 |
G |
A |
10: 62,826,833 (GRCm39) |
C124Y |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,009 (GRCm39) |
I343T |
probably damaging |
Het |
| Spata31e2 |
C |
A |
1: 26,721,173 (GRCm39) |
D1336Y |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,806,597 (GRCm39) |
P1408T |
probably damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,671,924 (GRCm39) |
Y423H |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,049,088 (GRCm39) |
M303K |
probably benign |
Het |
|
| Other mutations in Smyd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02372:Smyd4
|
APN |
11 |
75,281,111 (GRCm39) |
nonsense |
probably null |
|
|
IGL02390:Smyd4
|
APN |
11 |
75,278,332 (GRCm39) |
splice site |
probably null |
|
|
IGL02492:Smyd4
|
APN |
11 |
75,294,252 (GRCm39) |
missense |
probably benign |
|
|
IGL02504:Smyd4
|
APN |
11 |
75,281,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02623:Smyd4
|
APN |
11 |
75,280,890 (GRCm39) |
splice site |
probably benign |
|
|
IGL02661:Smyd4
|
APN |
11 |
75,281,767 (GRCm39) |
nonsense |
probably null |
|
|
IGL03084:Smyd4
|
APN |
11 |
75,281,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4431001:Smyd4
|
UTSW |
11 |
75,294,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Smyd4
|
UTSW |
11 |
75,290,534 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0834:Smyd4
|
UTSW |
11 |
75,281,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1075:Smyd4
|
UTSW |
11 |
75,291,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1215:Smyd4
|
UTSW |
11 |
75,281,121 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1759:Smyd4
|
UTSW |
11 |
75,273,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Smyd4
|
UTSW |
11 |
75,281,927 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2862:Smyd4
|
UTSW |
11 |
75,280,962 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4033:Smyd4
|
UTSW |
11 |
75,240,580 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4655:Smyd4
|
UTSW |
11 |
75,281,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Smyd4
|
UTSW |
11 |
75,282,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Smyd4
|
UTSW |
11 |
75,294,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Smyd4
|
UTSW |
11 |
75,294,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Smyd4
|
UTSW |
11 |
75,273,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5306:Smyd4
|
UTSW |
11 |
75,292,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5327:Smyd4
|
UTSW |
11 |
75,281,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Smyd4
|
UTSW |
11 |
75,280,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Smyd4
|
UTSW |
11 |
75,295,602 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7038:Smyd4
|
UTSW |
11 |
75,281,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Smyd4
|
UTSW |
11 |
75,281,325 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7312:Smyd4
|
UTSW |
11 |
75,281,082 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7576:Smyd4
|
UTSW |
11 |
75,281,032 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7904:Smyd4
|
UTSW |
11 |
75,240,613 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8387:Smyd4
|
UTSW |
11 |
75,292,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8816:Smyd4
|
UTSW |
11 |
75,281,232 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9235:Smyd4
|
UTSW |
11 |
75,295,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9436:Smyd4
|
UTSW |
11 |
75,293,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Smyd4
|
UTSW |
11 |
75,281,625 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Smyd4
|
UTSW |
11 |
75,290,440 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-12-06 |
Incidental Mutation