Incidental Mutation 'R8965:Erich6'
| ID |
682661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erich6
|
| Ensembl Gene |
ENSMUSG00000070471 |
| Gene Name |
glutamate rich 6 |
| Synonyms |
4932431H17Rik, Fam194a |
| MMRRC Submission |
068799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
58523721-58544628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58531738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 419
(D419E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041115]
|
| AlphaFold |
D3Z6S9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041115
AA Change: D419E
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000040882
Gene: ENSMUSG00000070471
AA Change: D419E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
27 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
400 |
N/A |
INTRINSIC |
|
Pfam:FAM194
|
473 |
675 |
5.4e-67 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,760,723 (GRCm39) |
I1260K |
probably benign |
Het |
| Ace3 |
G |
T |
11: 105,896,175 (GRCm39) |
C707F |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,839,761 (GRCm39) |
H224R |
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,107,612 (GRCm39) |
D669G |
probably benign |
Het |
| Cdk5rap2 |
A |
C |
4: 70,185,042 (GRCm39) |
V1136G |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,479,646 (GRCm39) |
V277E |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,186 (GRCm39) |
L416P |
possibly damaging |
Het |
| Dnah17 |
T |
G |
11: 117,915,492 (GRCm39) |
T4376P |
probably damaging |
Het |
| E4f1 |
C |
T |
17: 24,664,504 (GRCm39) |
V429M |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Grid2 |
A |
G |
6: 64,296,990 (GRCm39) |
E451G |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,118,469 (GRCm39) |
Y181H |
probably damaging |
Het |
| Igkv2-109 |
A |
T |
6: 68,280,112 (GRCm39) |
Y111F |
probably damaging |
Het |
| Lztr1 |
T |
C |
16: 17,327,296 (GRCm39) |
|
probably null |
Het |
| Myh13 |
A |
T |
11: 67,255,432 (GRCm39) |
M1601L |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,901 (GRCm39) |
I207F |
possibly damaging |
Het |
| Or2w2 |
T |
C |
13: 21,758,387 (GRCm39) |
T80A |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,314 (GRCm39) |
L130P |
probably damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,051 (GRCm39) |
V156A |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,791,134 (GRCm39) |
N444S |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,257,815 (GRCm39) |
Y559H |
probably damaging |
Het |
| Pcna |
T |
C |
2: 132,094,769 (GRCm39) |
D63G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
| Peli1 |
T |
C |
11: 21,098,488 (GRCm39) |
Y408H |
probably damaging |
Het |
| Psma5 |
T |
A |
3: 108,172,510 (GRCm39) |
|
probably null |
Het |
| Ptpn11 |
G |
A |
5: 121,301,229 (GRCm39) |
T205M |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,851 (GRCm39) |
L453P |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,671,982 (GRCm39) |
V910A |
possibly damaging |
Het |
| Spaca6 |
A |
G |
17: 18,058,718 (GRCm39) |
T306A |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,680,009 (GRCm39) |
Y422* |
probably null |
Het |
| Svop |
A |
G |
5: 114,173,271 (GRCm39) |
Y367H |
probably benign |
Het |
| Trgv3 |
T |
A |
13: 19,427,180 (GRCm39) |
L21Q |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,975,006 (GRCm39) |
L315S |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,901,797 (GRCm39) |
Y521N |
possibly damaging |
Het |
| Vcam1 |
T |
A |
3: 115,922,422 (GRCm39) |
K34* |
probably null |
Het |
| Vwa1 |
A |
T |
4: 155,857,440 (GRCm39) |
Y119* |
probably null |
Het |
| Vwa5b2 |
A |
G |
16: 20,415,076 (GRCm39) |
H366R |
possibly damaging |
Het |
| Wac |
C |
A |
18: 7,905,936 (GRCm39) |
Q168K |
probably benign |
Het |
| Wipf2 |
A |
G |
11: 98,783,497 (GRCm39) |
S308G |
probably benign |
Het |
| Zbtb25 |
A |
C |
12: 76,396,577 (GRCm39) |
I215S |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,155 (GRCm39) |
S71P |
probably damaging |
Het |
|
| Other mutations in Erich6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Erich6
|
APN |
3 |
58,544,464 (GRCm39) |
missense |
unknown |
|
|
IGL01352:Erich6
|
APN |
3 |
58,529,781 (GRCm39) |
splice site |
probably null |
|
|
IGL01362:Erich6
|
APN |
3 |
58,529,781 (GRCm39) |
splice site |
probably null |
|
|
IGL01928:Erich6
|
APN |
3 |
58,528,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Erich6
|
APN |
3 |
58,529,775 (GRCm39) |
splice site |
probably benign |
|
|
IGL03125:Erich6
|
APN |
3 |
58,531,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4243001:Erich6
|
UTSW |
3 |
58,537,300 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0081:Erich6
|
UTSW |
3 |
58,543,547 (GRCm39) |
splice site |
probably benign |
|
|
R0129:Erich6
|
UTSW |
3 |
58,531,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Erich6
|
UTSW |
3 |
58,543,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0682:Erich6
|
UTSW |
3 |
58,544,232 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0734:Erich6
|
UTSW |
3 |
58,536,809 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Erich6
|
UTSW |
3 |
58,543,543 (GRCm39) |
splice site |
probably benign |
|
|
R0833:Erich6
|
UTSW |
3 |
58,526,365 (GRCm39) |
splice site |
probably benign |
|
|
R0836:Erich6
|
UTSW |
3 |
58,526,365 (GRCm39) |
splice site |
probably benign |
|
|
R1385:Erich6
|
UTSW |
3 |
58,544,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1536:Erich6
|
UTSW |
3 |
58,534,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1570:Erich6
|
UTSW |
3 |
58,538,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1708:Erich6
|
UTSW |
3 |
58,523,868 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2187:Erich6
|
UTSW |
3 |
58,537,266 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2268:Erich6
|
UTSW |
3 |
58,526,260 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2441:Erich6
|
UTSW |
3 |
58,526,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Erich6
|
UTSW |
3 |
58,528,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Erich6
|
UTSW |
3 |
58,544,125 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4166:Erich6
|
UTSW |
3 |
58,526,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Erich6
|
UTSW |
3 |
58,531,712 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4729:Erich6
|
UTSW |
3 |
58,543,480 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4838:Erich6
|
UTSW |
3 |
58,544,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5117:Erich6
|
UTSW |
3 |
58,530,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5305:Erich6
|
UTSW |
3 |
58,532,537 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5546:Erich6
|
UTSW |
3 |
58,526,218 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5605:Erich6
|
UTSW |
3 |
58,532,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Erich6
|
UTSW |
3 |
58,530,622 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6033:Erich6
|
UTSW |
3 |
58,530,622 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6378:Erich6
|
UTSW |
3 |
58,529,780 (GRCm39) |
splice site |
probably null |
|
|
R6606:Erich6
|
UTSW |
3 |
58,523,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Erich6
|
UTSW |
3 |
58,532,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Erich6
|
UTSW |
3 |
58,523,987 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6974:Erich6
|
UTSW |
3 |
58,526,220 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6996:Erich6
|
UTSW |
3 |
58,543,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Erich6
|
UTSW |
3 |
58,544,305 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7484:Erich6
|
UTSW |
3 |
58,534,112 (GRCm39) |
splice site |
probably null |
|
|
R7526:Erich6
|
UTSW |
3 |
58,538,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Erich6
|
UTSW |
3 |
58,526,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Erich6
|
UTSW |
3 |
58,528,699 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8358:Erich6
|
UTSW |
3 |
58,544,449 (GRCm39) |
nonsense |
probably null |
|
|
R8944:Erich6
|
UTSW |
3 |
58,537,275 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9342:Erich6
|
UTSW |
3 |
58,534,101 (GRCm39) |
nonsense |
probably null |
|
|
R9429:Erich6
|
UTSW |
3 |
58,536,935 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9622:Erich6
|
UTSW |
3 |
58,544,162 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9624:Erich6
|
UTSW |
3 |
58,536,766 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9633:Erich6
|
UTSW |
3 |
58,537,277 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACCTCTAAAAGCCAGAG -3'
(R):5'- ATAGGACCACTTGCAGGCTC -3'
Sequencing Primer
(F):5'- GGGCCTGAACCTCACATC -3'
(R):5'- GCAGGCTCTGACTACATAAAATAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation