Incidental Mutation 'IGL03222:Hmces'
| ID |
413680 |
| 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 # |
IGL03222
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87890917-87913611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87902674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 172
(R172G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032141]
[ENSMUST00000113606]
[ENSMUST00000204232]
|
| AlphaFold |
Q8R1M0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032141
AA Change: R172G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032141
Gene: ENSMUSG00000030060
AA Change: R172G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRAP
|
1 |
262 |
4.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113606
AA Change: R172G
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109236
Gene: ENSMUSG00000030060
AA Change: R172G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF159
|
1 |
263 |
9.4e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204614
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
A |
G |
X: 126,303,093 (GRCm39) |
D344G |
probably benign |
Het |
| Aqr |
A |
T |
2: 113,951,737 (GRCm39) |
L877Q |
probably damaging |
Het |
| Ctr9 |
T |
C |
7: 110,642,257 (GRCm39) |
Y328H |
probably benign |
Het |
| Ebf2 |
A |
G |
14: 67,649,441 (GRCm39) |
|
probably null |
Het |
| Ebpl |
A |
G |
14: 61,579,682 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
A |
T |
11: 77,028,193 (GRCm39) |
D515E |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,802,950 (GRCm39) |
N1187S |
possibly damaging |
Het |
| Ighv14-2 |
T |
C |
12: 113,958,114 (GRCm39) |
D109G |
possibly damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,300,843 (GRCm39) |
R423H |
probably damaging |
Het |
| Muc13 |
T |
C |
16: 33,619,335 (GRCm39) |
S28P |
unknown |
Het |
| Or5p70 |
A |
T |
7: 107,994,393 (GRCm39) |
D22V |
possibly damaging |
Het |
| Or7e170 |
G |
T |
9: 19,795,495 (GRCm39) |
Y35* |
probably null |
Het |
| Polg |
T |
C |
7: 79,104,404 (GRCm39) |
T824A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,995,302 (GRCm39) |
V782D |
probably damaging |
Het |
| Rin2 |
T |
A |
2: 145,702,115 (GRCm39) |
C270* |
probably null |
Het |
| Sdk2 |
C |
A |
11: 113,729,257 (GRCm39) |
V1107L |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,628,304 (GRCm39) |
V539E |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,488,983 (GRCm39) |
S764P |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,586,083 (GRCm39) |
T21883A |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,987,315 (GRCm39) |
T117A |
probably damaging |
Het |
| Xkr9 |
T |
A |
1: 13,771,505 (GRCm39) |
Y340* |
probably null |
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 |
|
|
IGL02330:Hmces
|
APN |
6 |
87,891,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02803:Hmces
|
APN |
6 |
87,902,711 (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 |
2016-08-02 |
Incidental Mutation