Incidental Mutation 'IGL02492:Smyd4'
| ID |
295686 |
| 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 # |
IGL02492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75239259-75296531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75294252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 711
(L711P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044530]
|
| AlphaFold |
Q8BTK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044530
AA Change: L711P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809
AA Change: L711P
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
G |
9: 53,367,159 (GRCm39) |
L2482P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,881,945 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,262 (GRCm39) |
E1320G |
probably benign |
Het |
| Ccrl2 |
A |
G |
9: 110,884,871 (GRCm39) |
I209T |
probably benign |
Het |
| Cd200r2 |
A |
G |
16: 44,729,903 (GRCm39) |
K149R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,907,855 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
T |
A |
1: 10,097,377 (GRCm39) |
T291S |
probably benign |
Het |
| Csmd1 |
C |
A |
8: 16,052,597 (GRCm39) |
V2176F |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,595,972 (GRCm39) |
S221R |
probably damaging |
Het |
| Cxcl3 |
A |
G |
5: 90,934,199 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
C |
T |
5: 4,154,304 (GRCm39) |
V2I |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,532,844 (GRCm39) |
F285L |
probably benign |
Het |
| Dst |
T |
G |
1: 34,191,274 (GRCm39) |
|
probably benign |
Het |
| Frzb |
A |
T |
2: 80,254,935 (GRCm39) |
|
probably benign |
Het |
| Gm5070 |
A |
T |
3: 95,318,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,402,182 (GRCm38) |
|
noncoding transcript |
Het |
| Grip1 |
A |
G |
10: 119,765,945 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,086,001 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,856,439 (GRCm39) |
I675N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,060 (GRCm39) |
K235N |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,453 (GRCm39) |
V660L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,194,069 (GRCm39) |
L484R |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,701,602 (GRCm39) |
V305D |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,365,023 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
C |
T |
16: 17,457,215 (GRCm39) |
A391V |
probably damaging |
Het |
| Spag16 |
T |
G |
1: 69,926,688 (GRCm39) |
M261R |
probably benign |
Het |
| Steap1 |
A |
G |
5: 5,790,561 (GRCm39) |
V129A |
possibly damaging |
Het |
| Tbcd |
A |
T |
11: 121,387,960 (GRCm39) |
I364L |
probably benign |
Het |
| Trmt13 |
C |
T |
3: 116,376,192 (GRCm39) |
D400N |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,625,001 (GRCm39) |
S2753P |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,346,511 (GRCm39) |
S2917R |
probably damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (GRCm39) |
|
probably null |
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 |
|
|
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