Incidental Mutation 'R3014:Hmces'
ID |
257594 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmces
|
Ensembl Gene |
ENSMUSG00000030060 |
Gene Name |
5-hydroxymethylcytosine (hmC) binding, ES cell specific |
Synonyms |
Srap1, 8430410A17Rik |
MMRRC Submission |
040535-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3014 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
87890917-87913611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 87894823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 62
(D62E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109236
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032141]
[ENSMUST00000113606]
[ENSMUST00000113607]
[ENSMUST00000204232]
|
AlphaFold |
Q8R1M0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032141
AA Change: D62E
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000032141 Gene: ENSMUSG00000030060 AA Change: D62E
Domain | Start | End | E-Value | Type |
Pfam:SRAP
|
1 |
262 |
4.9e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113606
AA Change: D62E
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109236 Gene: ENSMUSG00000030060 AA Change: D62E
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: ENSMUST00000132651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181696
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204232
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204614
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
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 |
Angpt4 |
G |
T |
2: 151,771,517 (GRCm39) |
V278L |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,633,827 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,321,304 (GRCm39) |
N3921K |
probably benign |
Het |
Duxf4 |
G |
A |
10: 58,071,356 (GRCm39) |
T286I |
possibly damaging |
Het |
Fam193a |
A |
T |
5: 34,623,016 (GRCm39) |
E1201D |
probably benign |
Het |
Gm10220 |
G |
C |
5: 26,322,826 (GRCm39) |
D195E |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,922,857 (GRCm39) |
K607E |
possibly damaging |
Het |
Gprin1 |
T |
A |
13: 54,886,288 (GRCm39) |
D662V |
probably benign |
Het |
Gria4 |
A |
G |
9: 4,464,294 (GRCm39) |
I556T |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hcar2 |
A |
T |
5: 124,002,768 (GRCm39) |
V245E |
probably damaging |
Het |
Ighv1-4 |
T |
A |
12: 114,450,769 (GRCm39) |
Y113F |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kng1 |
C |
T |
16: 22,898,120 (GRCm39) |
H507Y |
possibly damaging |
Het |
Lypd10 |
A |
G |
7: 24,412,821 (GRCm39) |
I76M |
possibly damaging |
Het |
Map3k5 |
A |
T |
10: 19,970,175 (GRCm39) |
Y694F |
probably damaging |
Het |
Myo1a |
T |
G |
10: 127,552,214 (GRCm39) |
F778V |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Or1ad1 |
A |
G |
11: 50,875,534 (GRCm39) |
D2G |
probably benign |
Het |
Or4l1 |
G |
A |
14: 50,166,489 (GRCm39) |
H171Y |
probably benign |
Het |
Or6aa1 |
A |
G |
7: 86,043,884 (GRCm39) |
V274A |
probably benign |
Het |
Or6z6 |
A |
T |
7: 6,491,470 (GRCm39) |
Y134* |
probably null |
Het |
Parp3 |
C |
A |
9: 106,348,514 (GRCm39) |
S507I |
possibly damaging |
Het |
Ppip5k2 |
T |
A |
1: 97,671,800 (GRCm39) |
T491S |
probably damaging |
Het |
Psmg1 |
T |
A |
16: 95,781,248 (GRCm39) |
I266F |
probably damaging |
Het |
Ptpn23 |
T |
C |
9: 110,218,763 (GRCm39) |
T476A |
probably benign |
Het |
Rttn |
G |
C |
18: 89,032,744 (GRCm39) |
V671L |
probably damaging |
Het |
Srsf7 |
T |
C |
17: 80,508,990 (GRCm39) |
E235G |
unknown |
Het |
Sv2a |
G |
A |
3: 96,096,751 (GRCm39) |
W416* |
probably null |
Het |
Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
Tenm2 |
T |
C |
11: 35,914,800 (GRCm39) |
T2245A |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,319,627 (GRCm39) |
H451L |
possibly damaging |
Het |
Xkr6 |
T |
C |
14: 64,056,793 (GRCm39) |
Y235H |
unknown |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTTCCTGCCGTACCTGAG -3'
(R):5'- AAGTGCCTTTTCCCTATACACG -3'
Sequencing Primer
(F):5'- GGTTCTAAGAACGTAACTCAGGTCC -3'
(R):5'- ATACACGCTGCCTACCTTGAATG -3'
|
Posted On |
2015-01-11 |