Incidental Mutation 'IGL02372:Smyd4'
| ID |
290960 |
| 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 # |
IGL02372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75239259-75296531 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 75281111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 195
(K195*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044530]
|
| AlphaFold |
Q8BTK5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044530
AA Change: K195*
|
| SMART Domains |
Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: K195*
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
A |
G |
11: 120,485,701 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,332,461 (GRCm39) |
|
probably null |
Het |
| Arc |
A |
G |
15: 74,543,954 (GRCm39) |
S90P |
probably damaging |
Het |
| Atp6v1e1 |
T |
A |
6: 120,778,084 (GRCm39) |
K150N |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,674 (GRCm39) |
|
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,917,824 (GRCm39) |
Y259H |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,814,108 (GRCm39) |
V1938A |
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,013,343 (GRCm39) |
V37A |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,667 (GRCm39) |
P467T |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,760,862 (GRCm39) |
T1535A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,986 (GRCm39) |
L302P |
probably benign |
Het |
| Faf1 |
T |
G |
4: 109,792,779 (GRCm39) |
F584V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,707,772 (GRCm39) |
R72C |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,871 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
G |
T |
13: 14,438,706 (GRCm39) |
D892E |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,795,790 (GRCm39) |
E474G |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,559,401 (GRCm39) |
F297V |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,707 (GRCm39) |
N127D |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,986,613 (GRCm39) |
N671K |
probably benign |
Het |
| Nup210l |
C |
A |
3: 90,109,278 (GRCm39) |
T1607N |
possibly damaging |
Het |
| Or8s8 |
A |
T |
15: 98,354,709 (GRCm39) |
T173S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,974,370 (GRCm39) |
K22* |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,513,650 (GRCm39) |
L942P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,186,537 (GRCm39) |
R40W |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,169,609 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,847,298 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
T |
C |
7: 125,890,230 (GRCm39) |
L81P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,104 (GRCm39) |
P1524S |
probably damaging |
Het |
| Smpdl3a |
T |
A |
10: 57,683,611 (GRCm39) |
N240K |
probably benign |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,304,561 (GRCm39) |
M231K |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,668,739 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation