Incidental Mutation 'R4335:Erh'
| ID |
323748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erh
|
| Ensembl Gene |
ENSMUSG00000021131 |
| Gene Name |
ERH mRNA splicing and mitosis factor |
| Synonyms |
Prei1, Mer |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R4335 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80680799-80690616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80689615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 3
(L3P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021559]
[ENSMUST00000085245]
[ENSMUST00000166931]
[ENSMUST00000217889]
[ENSMUST00000218364]
[ENSMUST00000218740]
[ENSMUST00000219706]
[ENSMUST00000219405]
|
| AlphaFold |
P84089 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021559
|
| SMART Domains |
Protein: ENSMUSP00000021559
Gene: ENSMUSG00000021131
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ER
|
1 |
103 |
9.9e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085245
|
| SMART Domains |
Protein: ENSMUSP00000082343
Gene: ENSMUSG00000048833
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
4 |
146 |
2.6e-13 |
PFAM |
|
Pfam:Zip
|
132 |
303 |
2e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166931
AA Change: L3P
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129620
Gene: ENSMUSG00000021131
AA Change: L3P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ER
|
21 |
118 |
4.6e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218440
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219405
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
| Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
| Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
| Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
| Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
| Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
| Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Erh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2198:Erh
|
UTSW |
12 |
80,689,559 (GRCm39) |
unclassified |
probably benign |
|
|
R7466:Erh
|
UTSW |
12 |
80,687,757 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7679:Erh
|
UTSW |
12 |
80,684,345 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8039:Erh
|
UTSW |
12 |
80,684,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Erh
|
UTSW |
12 |
80,684,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8914:Erh
|
UTSW |
12 |
80,684,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8917:Erh
|
UTSW |
12 |
80,684,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8918:Erh
|
UTSW |
12 |
80,684,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8968:Erh
|
UTSW |
12 |
80,684,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9557:Erh
|
UTSW |
12 |
80,689,571 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Erh
|
UTSW |
12 |
80,689,578 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAGCTATTCATTCTTTGCCAC -3'
(R):5'- AGGGTCCTGGTCCCAAAATC -3'
Sequencing Primer
(F):5'- TTTGAAAACTATAAACACACCTGCTC -3'
(R):5'- AATGAGATCCCCTGGGTCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation