Incidental Mutation 'R1075:Smyd4'
ID |
85620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smyd4
|
Ensembl Gene |
ENSMUSG00000018809 |
Gene Name |
SET and MYND domain containing 4 |
Synonyms |
G430029E23Rik |
MMRRC Submission |
039161-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1075 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
75239259-75296531 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75291164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 589
(Y589H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044530]
|
AlphaFold |
Q8BTK5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044530
AA Change: Y589H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047505 Gene: ENSMUSG00000018809 AA Change: Y589H
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: ENSMUST00000135774
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
Apbb2 |
G |
T |
5: 66,460,021 (GRCm39) |
P692Q |
probably damaging |
Het |
Arhgap40 |
A |
G |
2: 158,391,567 (GRCm39) |
N627D |
possibly damaging |
Het |
Asns |
G |
A |
6: 7,676,076 (GRCm39) |
R465* |
probably null |
Het |
Bdkrb1 |
G |
A |
12: 105,570,562 (GRCm39) |
V43I |
probably benign |
Het |
Bod1 |
T |
C |
11: 31,621,514 (GRCm39) |
D63G |
possibly damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Csnka2ip |
T |
A |
16: 64,298,310 (GRCm39) |
K685* |
probably null |
Het |
Dennd5a |
A |
T |
7: 109,517,808 (GRCm39) |
D609E |
probably benign |
Het |
Dhx34 |
G |
C |
7: 15,952,274 (GRCm39) |
T117S |
probably benign |
Het |
Dpp4 |
A |
T |
2: 62,182,630 (GRCm39) |
D550E |
probably benign |
Het |
Enah |
C |
T |
1: 181,784,066 (GRCm39) |
R81K |
unknown |
Het |
Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
Etnppl |
A |
T |
3: 130,423,212 (GRCm39) |
M298L |
probably benign |
Het |
Fam81a |
G |
A |
9: 70,017,556 (GRCm39) |
R130* |
probably null |
Het |
Fbxl3 |
A |
C |
14: 103,332,839 (GRCm39) |
H46Q |
probably benign |
Het |
Gal3st1 |
A |
G |
11: 3,948,509 (GRCm39) |
I239V |
possibly damaging |
Het |
H2-T15 |
C |
T |
17: 36,367,038 (GRCm39) |
G335D |
probably benign |
Het |
Htra4 |
T |
C |
8: 25,523,612 (GRCm39) |
I318V |
probably benign |
Het |
Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
Il7r |
T |
C |
15: 9,516,543 (GRCm39) |
N86S |
probably benign |
Het |
Mettl17 |
A |
G |
14: 52,127,063 (GRCm39) |
N231D |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,299,040 (GRCm39) |
D1998G |
probably benign |
Het |
Myh15 |
G |
T |
16: 48,940,417 (GRCm39) |
R789L |
possibly damaging |
Het |
Myh7 |
A |
G |
14: 55,224,860 (GRCm39) |
V569A |
probably benign |
Het |
Nell1 |
A |
G |
7: 50,503,588 (GRCm39) |
I617M |
probably damaging |
Het |
Nlrp1b |
C |
G |
11: 71,072,512 (GRCm39) |
E444Q |
probably benign |
Het |
Or10ak16 |
T |
C |
4: 118,750,402 (GRCm39) |
S41P |
probably damaging |
Het |
Or2b4 |
T |
A |
17: 38,116,660 (GRCm39) |
L208* |
probably null |
Het |
Or2y8 |
T |
A |
11: 52,035,677 (GRCm39) |
I227F |
possibly damaging |
Het |
Psmd2 |
T |
C |
16: 20,478,709 (GRCm39) |
S603P |
probably damaging |
Het |
Slc4a2 |
T |
A |
5: 24,644,055 (GRCm39) |
I913N |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 100,000,992 (GRCm39) |
E1850G |
probably damaging |
Het |
Srsf11 |
A |
T |
3: 157,718,427 (GRCm39) |
|
probably benign |
Het |
Stra6 |
A |
T |
9: 58,058,687 (GRCm39) |
N488I |
possibly damaging |
Het |
Supt20 |
C |
T |
3: 54,614,362 (GRCm39) |
Q160* |
probably null |
Het |
Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
Uchl1 |
T |
A |
5: 66,839,808 (GRCm39) |
F117I |
probably damaging |
Het |
Usf1 |
T |
A |
1: 171,245,677 (GRCm39) |
N307K |
probably benign |
Het |
Zfp994 |
T |
A |
17: 22,419,926 (GRCm39) |
H341L |
probably damaging |
Het |
|
Other mutations in Smyd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00777:Smyd4
|
APN |
11 |
75,281,634 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAACGTATCCACTTTCACCCGTG -3'
(R):5'- TCCTGGCGACTGACAACCTTTAGC -3'
Sequencing Primer
(F):5'- gctagtgtctatcactgagcc -3'
(R):5'- TTAGCTGGAGCCCTGCC -3'
|
Posted On |
2013-11-18 |