Incidental Mutation 'R1134:Erich2'
| ID |
94798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erich2
|
| Ensembl Gene |
ENSMUSG00000075302 |
| Gene Name |
glutamate rich 2 |
| Synonyms |
4933404M02Rik |
| MMRRC Submission |
039207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
70339163-70371228 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 70366535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 370
(L370*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100041]
[ENSMUST00000134607]
|
| AlphaFold |
E9Q1A6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100041
AA Change: L396*
|
| SMART Domains |
Protein: ENSMUSP00000097619
Gene: ENSMUSG00000075302
AA Change: L396*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000134607
AA Change: L370*
|
| SMART Domains |
Protein: ENSMUSP00000122481
Gene: ENSMUSG00000075302
AA Change: L370*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151851
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl6 |
C |
A |
16: 23,787,115 (GRCm39) |
R595L |
probably benign |
Het |
| Cd40 |
T |
A |
2: 164,912,738 (GRCm39) |
C230S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
T |
C |
10: 99,100,816 (GRCm39) |
F271L |
probably damaging |
Het |
| Endou |
A |
G |
15: 97,611,747 (GRCm39) |
V339A |
probably damaging |
Het |
| Fabp12 |
T |
C |
3: 10,312,731 (GRCm39) |
D97G |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,015,460 (GRCm39) |
N92S |
probably benign |
Het |
| Klhl28 |
A |
G |
12: 64,998,391 (GRCm39) |
S368P |
probably benign |
Het |
| Lhfpl2 |
C |
T |
13: 94,310,760 (GRCm39) |
S10L |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,557 (GRCm39) |
V645A |
probably benign |
Het |
| Ms4a4d |
C |
T |
19: 11,535,298 (GRCm39) |
L199F |
possibly damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,476 (GRCm39) |
S291G |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,525 (GRCm39) |
Y35C |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,947,938 (GRCm39) |
E2313G |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,655,272 (GRCm39) |
V1733A |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,832 (GRCm39) |
Q112R |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,915,138 (GRCm39) |
V716I |
probably benign |
Het |
| Plekhg2 |
G |
T |
7: 28,061,426 (GRCm39) |
S816R |
probably damaging |
Het |
| Rev1 |
G |
A |
1: 38,096,768 (GRCm39) |
S810L |
probably benign |
Het |
| Tbx15 |
G |
T |
3: 99,223,639 (GRCm39) |
V276L |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,525 (GRCm39) |
D274V |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,061,143 (GRCm39) |
L150P |
possibly damaging |
Het |
| Trpa1 |
A |
T |
1: 14,951,972 (GRCm39) |
I909N |
possibly damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,708,975 (GRCm39) |
I80T |
probably damaging |
Het |
| Zcchc8 |
C |
G |
5: 123,855,090 (GRCm39) |
G40R |
probably damaging |
Het |
|
| Other mutations in Erich2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02596:Erich2
|
APN |
2 |
70,343,147 (GRCm39) |
intron |
probably benign |
|
|
IGL02945:Erich2
|
APN |
2 |
70,364,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03227:Erich2
|
APN |
2 |
70,343,114 (GRCm39) |
intron |
probably benign |
|
|
IGL03055:Erich2
|
UTSW |
2 |
70,339,529 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0503:Erich2
|
UTSW |
2 |
70,371,119 (GRCm39) |
missense |
unknown |
|
|
R0503:Erich2
|
UTSW |
2 |
70,340,043 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1496:Erich2
|
UTSW |
2 |
70,343,117 (GRCm39) |
intron |
probably benign |
|
|
R3689:Erich2
|
UTSW |
2 |
70,371,097 (GRCm39) |
missense |
unknown |
|
|
R4027:Erich2
|
UTSW |
2 |
70,343,134 (GRCm39) |
intron |
probably benign |
|
|
R4833:Erich2
|
UTSW |
2 |
70,364,636 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6284:Erich2
|
UTSW |
2 |
70,370,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Erich2
|
UTSW |
2 |
70,339,505 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7485:Erich2
|
UTSW |
2 |
70,362,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Erich2
|
UTSW |
2 |
70,364,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Erich2
|
UTSW |
2 |
70,357,873 (GRCm39) |
splice site |
probably null |
|
|
R8998:Erich2
|
UTSW |
2 |
70,361,964 (GRCm39) |
unclassified |
probably benign |
|
|
R9698:Erich2
|
UTSW |
2 |
70,371,055 (GRCm39) |
missense |
unknown |
|
|
Z1176:Erich2
|
UTSW |
2 |
70,339,458 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTAAAAGCAGAATAGCTGCTGGATCA -3'
(R):5'- GGACAGCGATCAGTCTGTCTACATCAA -3'
Sequencing Primer
(F):5'- caagaggcagaggcaagg -3'
(R):5'- TACACACAGAGGTGCTCTTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation