Incidental Mutation 'R5578:Smyd4'
ID |
437312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smyd4
|
Ensembl Gene |
ENSMUSG00000018809 |
Gene Name |
SET and MYND domain containing 4 |
Synonyms |
G430029E23Rik |
MMRRC Submission |
043133-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5578 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
75239259-75296531 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 75295602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 753
(P753S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000769]
[ENSMUST00000044530]
|
AlphaFold |
Q8BTK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000769
|
SMART Domains |
Protein: ENSMUSP00000000769 Gene: ENSMUSG00000000753
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
SERPIN
|
62 |
414 |
5.22e-128 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000044530
AA Change: P753S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000047505 Gene: ENSMUSG00000018809 AA Change: P753S
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,926,932 (GRCm39) |
S521P |
probably benign |
Het |
Aqp11 |
A |
G |
7: 97,386,665 (GRCm39) |
F177S |
probably damaging |
Het |
Arhgap40 |
G |
T |
2: 158,373,126 (GRCm39) |
G128V |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,398,455 (GRCm39) |
K1011I |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,722,203 (GRCm39) |
T89A |
probably benign |
Het |
Cep89 |
ACTCCTCCTCCTCCTCCTCCTCCTC |
ACTCCTCCTCCTCCTCCTCCTC |
7: 35,109,067 (GRCm39) |
|
probably benign |
Het |
Cfhr2 |
A |
T |
1: 139,758,806 (GRCm39) |
C81* |
probably null |
Het |
Chd7 |
A |
G |
4: 8,847,149 (GRCm39) |
T1631A |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,638,196 (GRCm39) |
D22V |
probably benign |
Het |
Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp39a1 |
T |
A |
17: 43,991,031 (GRCm39) |
N113K |
possibly damaging |
Het |
Dnah11 |
A |
T |
12: 117,982,537 (GRCm39) |
V2544D |
probably damaging |
Het |
Dnai3 |
A |
T |
3: 145,802,983 (GRCm39) |
Y69* |
probably null |
Het |
Esr1 |
A |
C |
10: 4,919,164 (GRCm39) |
Q418P |
probably damaging |
Het |
Fam89a |
T |
A |
8: 125,467,968 (GRCm39) |
K115* |
probably null |
Het |
Fstl4 |
T |
A |
11: 53,056,608 (GRCm39) |
V455D |
probably damaging |
Het |
Gm20730 |
T |
A |
6: 43,058,474 (GRCm39) |
M113L |
probably benign |
Het |
H2ac21 |
T |
C |
3: 96,127,554 (GRCm39) |
V108A |
probably damaging |
Het |
Hk3 |
C |
T |
13: 55,159,994 (GRCm39) |
V327M |
probably damaging |
Het |
Itm2c |
T |
A |
1: 85,830,774 (GRCm39) |
V57E |
possibly damaging |
Het |
Lrba |
T |
C |
3: 86,664,814 (GRCm39) |
Y565H |
probably benign |
Het |
Mab21l1 |
C |
T |
3: 55,691,435 (GRCm39) |
Q341* |
probably null |
Het |
Mdm2 |
C |
T |
10: 117,538,192 (GRCm39) |
E69K |
possibly damaging |
Het |
Mdn1 |
A |
T |
4: 32,728,167 (GRCm39) |
I2709F |
probably benign |
Het |
Mpp7 |
T |
C |
18: 7,355,101 (GRCm39) |
N442D |
probably benign |
Het |
Ncoa3 |
A |
G |
2: 165,896,248 (GRCm39) |
I384V |
probably benign |
Het |
Pm20d1 |
A |
G |
1: 131,743,760 (GRCm39) |
N475S |
probably benign |
Het |
Rhpn2 |
A |
G |
7: 35,070,135 (GRCm39) |
D131G |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,155,847 (GRCm39) |
Y193F |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 141,598,880 (GRCm39) |
K182* |
probably null |
Het |
Slx4 |
T |
A |
16: 3,804,726 (GRCm39) |
E696V |
probably damaging |
Het |
Stambp |
T |
G |
6: 83,538,782 (GRCm39) |
D206A |
probably benign |
Het |
Sult5a1 |
G |
T |
8: 123,869,860 (GRCm39) |
Y262* |
probably null |
Het |
Taar1 |
A |
T |
10: 23,796,718 (GRCm39) |
I139F |
possibly damaging |
Het |
Tchh |
A |
T |
3: 93,351,618 (GRCm39) |
R353* |
probably null |
Het |
Thnsl2 |
C |
T |
6: 71,115,749 (GRCm39) |
V153I |
probably benign |
Het |
Trmt5 |
C |
T |
12: 73,331,837 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
A |
1: 14,957,232 (GRCm39) |
Y728F |
probably damaging |
Het |
Usp19 |
T |
C |
9: 108,370,639 (GRCm39) |
V126A |
probably benign |
Het |
Vcan |
A |
G |
13: 89,839,622 (GRCm39) |
V1974A |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,829,514 (GRCm39) |
H461L |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,682,402 (GRCm39) |
Y513C |
probably benign |
Het |
Zfp84 |
A |
C |
7: 29,474,856 (GRCm39) |
M43L |
possibly 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 |
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 |
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'- CTTTGCAGTATGCCCGTGAATG -3'
(R):5'- TCTCAGTCATCACCAGAGCTCC -3'
Sequencing Primer
(F):5'- CTATACTTTCAGATGGTAAGACCCTG -3'
(R):5'- ACCAGAGCTCCTTCTTGAGGG -3'
|
Posted On |
2016-10-26 |