Incidental Mutation 'R1196:Hmces'
| ID |
101115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmces
|
| Ensembl Gene |
ENSMUSG00000030060 |
| Gene Name |
5-hydroxymethylcytosine (hmC) binding, ES cell specific |
| Synonyms |
Srap1, 8430410A17Rik |
| MMRRC Submission |
039268-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R1196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87890917-87913611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87913164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 306
(D306E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032141]
[ENSMUST00000113606]
|
| AlphaFold |
Q8R1M0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032141
AA Change: D306E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032141
Gene: ENSMUSG00000030060
AA Change: D306E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRAP
|
1 |
262 |
4.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113606
AA Change: D306E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109236
Gene: ENSMUSG00000030060
AA Change: D306E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF159
|
1 |
263 |
9.4e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204614
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 86.8%
|
| Validation Efficiency |
97% (38/39) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,383,153 (GRCm39) |
I2112T |
probably benign |
Het |
| Agtpbp1 |
C |
A |
13: 59,598,132 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,890,623 (GRCm39) |
M834T |
probably damaging |
Het |
| Aspg |
A |
G |
12: 112,082,958 (GRCm39) |
T213A |
possibly damaging |
Het |
| Chpf2 |
T |
C |
5: 24,794,646 (GRCm39) |
V272A |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Ddah2 |
G |
T |
17: 35,280,503 (GRCm39) |
D215Y |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Fbrsl1 |
T |
A |
5: 110,522,385 (GRCm39) |
M150L |
probably benign |
Het |
| Itga2 |
C |
T |
13: 115,002,691 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,075,015 (GRCm39) |
|
probably benign |
Het |
| Krr1 |
T |
A |
10: 111,811,562 (GRCm39) |
H85Q |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,389,314 (GRCm39) |
R6Q |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,530 (GRCm39) |
M199V |
probably benign |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,620 (GRCm39) |
C353* |
probably null |
Het |
| Myo7a |
T |
G |
7: 97,746,880 (GRCm39) |
I178L |
possibly damaging |
Het |
| Myof |
G |
A |
19: 37,899,408 (GRCm39) |
T1043I |
probably damaging |
Het |
| Noc4l |
C |
T |
5: 110,798,450 (GRCm39) |
E247K |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,787,837 (GRCm39) |
C437R |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or4p19 |
A |
T |
2: 88,242,890 (GRCm39) |
N37K |
probably damaging |
Het |
| Or7e168 |
A |
G |
9: 19,719,928 (GRCm39) |
I105V |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,062,630 (GRCm39) |
F584L |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,312,875 (GRCm39) |
F1198L |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,380,316 (GRCm39) |
T147A |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,107,630 (GRCm39) |
I554T |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,247,866 (GRCm39) |
D1023G |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,583 (GRCm39) |
K94* |
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 |
|
IGL03222:Hmces
|
APN |
6 |
87,902,674 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACATGCTTCTTCCTTCACACTG -3'
(R):5'- AGCTGACATTGGGCCACCACATTC -3'
Sequencing Primer
(F):5'- ACACTGGTATTCAACCCTGC -3'
(R):5'- GGTTACAATTCCAGTCAACTGGTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation