Incidental Mutation 'IGL02623:Smyd4'
| ID |
300976 |
| 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 # |
IGL02623
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75239259-75296531 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 75280890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044530]
|
| AlphaFold |
Q8BTK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044530
|
| SMART Domains |
Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,853,032 (GRCm39) |
I35F |
probably benign |
Het |
| Acad10 |
A |
G |
5: 121,767,993 (GRCm39) |
V819A |
possibly damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,209,809 (GRCm39) |
N279Y |
probably damaging |
Het |
| Aplp2 |
C |
A |
9: 31,089,379 (GRCm39) |
|
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,360 (GRCm39) |
D193G |
probably damaging |
Het |
| Cacng1 |
A |
G |
11: 107,595,145 (GRCm39) |
F144S |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,154,140 (GRCm39) |
D135V |
possibly damaging |
Het |
| Dnm3 |
T |
A |
1: 162,183,001 (GRCm39) |
T105S |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,763,649 (GRCm39) |
I1228F |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,937 (GRCm39) |
D271G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,433 (GRCm39) |
Y2523C |
probably damaging |
Het |
| Fhl4 |
A |
G |
10: 84,934,035 (GRCm39) |
F249L |
probably damaging |
Het |
| Gm17782 |
T |
C |
17: 36,472,958 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,425,502 (GRCm39) |
Y219H |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,128,138 (GRCm39) |
L328P |
probably benign |
Het |
| Hspa12a |
T |
A |
19: 58,797,983 (GRCm39) |
Y245F |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,371 (GRCm39) |
Y153C |
probably damaging |
Het |
| Kcnd2 |
A |
T |
6: 21,726,194 (GRCm39) |
R562S |
probably benign |
Het |
| Lct |
T |
C |
1: 128,235,988 (GRCm39) |
S340G |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,662,185 (GRCm39) |
G262W |
probably damaging |
Het |
| Mindy3 |
G |
A |
2: 12,369,294 (GRCm39) |
Q142* |
probably null |
Het |
| Optn |
T |
C |
2: 5,039,833 (GRCm39) |
E318G |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,363 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,148,768 (GRCm39) |
S443P |
probably benign |
Het |
| Parva |
A |
G |
7: 112,175,646 (GRCm39) |
D259G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,448,269 (GRCm39) |
L3816Q |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,880,737 (GRCm39) |
F967S |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,425,334 (GRCm39) |
N817S |
probably damaging |
Het |
| Ptprt |
C |
A |
2: 161,449,372 (GRCm39) |
|
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,923,236 (GRCm39) |
S154C |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,640,122 (GRCm39) |
I169V |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,045,607 (GRCm39) |
Y326H |
probably benign |
Het |
| Tmem198b |
A |
G |
10: 128,638,320 (GRCm39) |
L81P |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,687,227 (GRCm39) |
C1115* |
probably null |
Het |
| Tns3 |
A |
G |
11: 8,387,141 (GRCm39) |
S1349P |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,376,395 (GRCm39) |
|
probably null |
Het |
| Zfp119b |
T |
C |
17: 56,246,793 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,012,986 (GRCm39) |
C503S |
probably damaging |
Het |
| Zfyve19 |
G |
A |
2: 119,042,496 (GRCm39) |
|
probably null |
Het |
| Zxdc |
G |
T |
6: 90,359,352 (GRCm39) |
K661N |
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 |
|
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 |
2015-04-16 |
Incidental Mutation