Incidental Mutation 'IGL02330:Hmces'
| ID |
288638 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hmces
|
| Ensembl Gene |
ENSMUSG00000030060 |
| Gene Name |
5-hydroxymethylcytosine (hmC) binding, ES cell specific |
| Synonyms |
Srap1, 8430410A17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL02330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87890917-87913611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87891517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 8
(H8R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032141]
[ENSMUST00000113606]
[ENSMUST00000113607]
[ENSMUST00000204232]
|
| AlphaFold |
Q8R1M0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032141
AA Change: H8R
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032141
Gene: ENSMUSG00000030060
AA Change: H8R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRAP
|
1 |
262 |
4.9e-58 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113606
AA Change: H8R
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109236
Gene: ENSMUSG00000030060
AA Change: H8R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF159
|
1 |
263 |
9.4e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113607
|
| SMART Domains |
Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
23 |
539 |
4.1e-135 |
PFAM |
|
Pfam:COP-gamma_platf
|
611 |
759 |
7.6e-64 |
PFAM |
|
Pfam:Coatomer_g_Cpla
|
761 |
873 |
1.5e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149907
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204232
AA Change: H8R
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181696
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout leads to changes in DNA methylation, resulting in an altered embryonic gene expression profile and embryonic sub-lethality (lower embryonic survival). [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 |
|---|
| Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,328 (GRCm39) |
G500D |
possibly damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,352,224 (GRCm39) |
|
probably benign |
Het |
| Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
| Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
| Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
| Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
| Ralb |
A |
T |
1: 119,399,450 (GRCm39) |
C203S |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Sf3b4 |
A |
T |
3: 96,080,376 (GRCm39) |
T42S |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,749,493 (GRCm39) |
T584A |
probably benign |
Het |
| Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,165 (GRCm39) |
Y299H |
possibly damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,977,896 (GRCm39) |
I385N |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
| Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
|
| Other mutations in Hmces |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02272:Hmces
|
APN |
6 |
87,894,837 (GRCm39) |
splice site |
probably null |
|
|
IGL02803:Hmces
|
APN |
6 |
87,902,711 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03222:Hmces
|
APN |
6 |
87,902,674 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1196:Hmces
|
UTSW |
6 |
87,913,164 (GRCm39) |
missense |
probably benign |
|
|
R1470:Hmces
|
UTSW |
6 |
87,913,121 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1470:Hmces
|
UTSW |
6 |
87,913,121 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1705:Hmces
|
UTSW |
6 |
87,910,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1711:Hmces
|
UTSW |
6 |
87,898,574 (GRCm39) |
nonsense |
probably null |
|
|
R2571:Hmces
|
UTSW |
6 |
87,913,202 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3014:Hmces
|
UTSW |
6 |
87,894,823 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5150:Hmces
|
UTSW |
6 |
87,910,217 (GRCm39) |
splice site |
probably null |
|
|
R8883:Hmces
|
UTSW |
6 |
87,910,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9457:Hmces
|
UTSW |
6 |
87,910,256 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0013:Hmces
|
UTSW |
6 |
87,913,102 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Hmces
|
UTSW |
6 |
87,913,112 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2015-04-16 |
Incidental Mutation