Incidental Mutation 'R6732:Smyd3'
| ID |
530091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smyd3
|
| Ensembl Gene |
ENSMUSG00000055067 |
| Gene Name |
SET and MYND domain containing 3 |
| Synonyms |
2410008A19Rik, Zmynd1 |
| MMRRC Submission |
044850-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6732 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
178779525-179345606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 179223395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 178
(H178P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111134]
[ENSMUST00000128302]
|
| AlphaFold |
Q9CWR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111134
AA Change: H178P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106764
Gene: ENSMUSG00000055067
AA Change: H178P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-MYND
|
40 |
87 |
2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128302
|
| SMART Domains |
Protein: ENSMUSP00000117410
Gene: ENSMUSG00000055067
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
4 |
246 |
1.04e-11 |
SMART |
|
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(34) : Targeted, other(5) Gene trapped(29)
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,117,190 (GRCm39) |
I486T |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,223,434 (GRCm39) |
N158S |
probably benign |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ap1ar |
G |
A |
3: 127,609,334 (GRCm39) |
Q96* |
probably null |
Het |
| Cd101 |
C |
T |
3: 100,915,515 (GRCm39) |
S684N |
probably benign |
Het |
| Cdh16 |
T |
G |
8: 105,345,165 (GRCm39) |
I375L |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,551,436 (GRCm39) |
V75A |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,551,374 (GRCm39) |
N110K |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,869,943 (GRCm39) |
V93A |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,652,740 (GRCm39) |
|
probably null |
Het |
| Egln3 |
C |
T |
12: 54,227,427 (GRCm39) |
A235T |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,212,124 (GRCm39) |
T2335A |
probably damaging |
Het |
| Fzd3 |
T |
C |
14: 65,473,252 (GRCm39) |
D172G |
probably benign |
Het |
| Galnt2 |
T |
A |
8: 125,067,561 (GRCm39) |
W447R |
probably damaging |
Het |
| Iqce |
A |
G |
5: 140,660,990 (GRCm39) |
L450P |
probably benign |
Het |
| Ly9 |
T |
C |
1: 171,421,653 (GRCm39) |
T533A |
possibly damaging |
Het |
| Map3k19 |
A |
C |
1: 127,751,969 (GRCm39) |
F257V |
probably benign |
Het |
| Mroh7 |
GTT |
GTTT |
4: 106,537,910 (GRCm39) |
|
probably null |
Het |
| Or5ac20 |
A |
T |
16: 59,104,314 (GRCm39) |
V182E |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,197 (GRCm39) |
I176F |
probably benign |
Het |
| Pigp |
A |
C |
16: 94,166,300 (GRCm39) |
L96R |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,788,387 (GRCm39) |
D715G |
probably damaging |
Het |
| Plxnd1 |
A |
C |
6: 115,946,890 (GRCm39) |
L828R |
possibly damaging |
Het |
| Pramel15 |
C |
T |
4: 144,099,743 (GRCm39) |
V341I |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,481,386 (GRCm39) |
S814T |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,573 (GRCm39) |
S87P |
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,521,180 (GRCm39) |
D34E |
probably benign |
Het |
| Rhof |
A |
G |
5: 123,269,999 (GRCm39) |
F53L |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,123,851 (GRCm39) |
P1217T |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,235,389 (GRCm39) |
Y263H |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,576,599 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
C |
17: 84,761,842 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
C |
15: 75,541,337 (GRCm39) |
|
probably null |
Het |
| Trim17 |
A |
T |
11: 58,861,851 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,770,395 (GRCm39) |
F2599I |
possibly damaging |
Het |
| Tuba3a |
A |
T |
6: 125,258,608 (GRCm39) |
D127E |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,106 (GRCm39) |
T68A |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,351 (GRCm39) |
V411A |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,758 (GRCm39) |
V196E |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,227,684 (GRCm39) |
Y131C |
probably damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,752,282 (GRCm39) |
S667Y |
probably damaging |
Het |
|
| Other mutations in Smyd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02044:Smyd3
|
APN |
1 |
178,799,844 (GRCm39) |
missense |
probably benign |
|
|
IGL03088:Smyd3
|
APN |
1 |
178,921,898 (GRCm39) |
critical splice donor site |
probably null |
|
|
D3080:Smyd3
|
UTSW |
1 |
178,913,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Smyd3
|
UTSW |
1 |
178,871,437 (GRCm39) |
missense |
probably benign |
|
|
R0230:Smyd3
|
UTSW |
1 |
179,250,993 (GRCm39) |
splice site |
probably benign |
|
|
R0390:Smyd3
|
UTSW |
1 |
178,785,138 (GRCm39) |
splice site |
probably benign |
|
|
R1651:Smyd3
|
UTSW |
1 |
178,871,441 (GRCm39) |
missense |
probably benign |
|
|
R4651:Smyd3
|
UTSW |
1 |
178,871,306 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4771:Smyd3
|
UTSW |
1 |
178,921,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Smyd3
|
UTSW |
1 |
179,238,024 (GRCm39) |
missense |
probably benign |
|
|
R5542:Smyd3
|
UTSW |
1 |
179,238,024 (GRCm39) |
missense |
probably benign |
|
|
R5697:Smyd3
|
UTSW |
1 |
179,239,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Smyd3
|
UTSW |
1 |
178,871,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Smyd3
|
UTSW |
1 |
178,799,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8065:Smyd3
|
UTSW |
1 |
179,238,028 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8067:Smyd3
|
UTSW |
1 |
179,238,028 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8236:Smyd3
|
UTSW |
1 |
179,233,205 (GRCm39) |
splice site |
probably null |
|
|
R8735:Smyd3
|
UTSW |
1 |
178,920,482 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9146:Smyd3
|
UTSW |
1 |
178,920,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Smyd3
|
UTSW |
1 |
178,877,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9200:Smyd3
|
UTSW |
1 |
179,232,963 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9372:Smyd3
|
UTSW |
1 |
178,871,470 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0024:Smyd3
|
UTSW |
1 |
178,877,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCGGGCAGTTCCTTAAC -3'
(R):5'- AGGTGTAAGTCCAAGTCTTCACTC -3'
Sequencing Primer
(F):5'- CCTTAACTAGTTGGCATCAAGGAGC -3'
(R):5'- TGTAAGTCCAAGTCTTCACTCAAACC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation